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[ "INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.", "INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage." ]

[ "INCA" ]

[ "INCA: synonymous codon usage analysis and clustering by means of self-organizing map.", "INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.", "UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes.", "INCA: synonymous codon usage analysis and clustering by means of self-organizing map", "INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes", "INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes.", "UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.", "UNLABELLED: INteractive Codon usage Analysis (INCA) provides an array of features useful in analysis of synonymous codon usage in whole genomes. In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage.", "In addition to computing codon frequencies and several usage indices, such as 'codon bias', effective Nc and CAI, the primary strength of INCA has numerous options for the interactive graphical display of calculated values, thus allowing visual detection of various trends in codon usage. Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.", "Finally, INCA includes a specific unsupervised neural network algorithm, the self-organizing map, used for gene clustering according to the preferred utilization of codons.AVAILABILITY: INCA is available for the Win32 platform and is free of charge for academic use.", "INCA: synonymous codon usage analysis and clustering by means of self-organizing map." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15059815" ]

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[ "MINDY-1 (motif interacting with Ub-containing novel DUB family) is a member of an evolutionarily conserved and structurally distinct new family of deubiquitinating enzymes. Found in all eukaryotes, MINDY-family DUBs are highly selective at cleaving K48-linked polyUb, a signal that targets proteins for degradation. MINDY-1 prefers cleaving long polyUb chains and works by trimming chains from the distal end.", "MINDY-1 Is a Member of an Evolutionarily Conserved and Structurally Distinct New Family of Deubiquitinating Enzymes" ]

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[ "MINDY-1 Is a Member of an Evolutionarily Conserved and Structurally Distinct New Family of Deubiquitinating Enzymes", "Here we report the discovery of a new family of DUBs, which we have named MINDY (motif interacting with Ub-containing novel DUB family). Found in all eukaryotes, MINDY-family DUBs are highly selective at cleaving K48-linked polyUb, a signal that targets proteins for degradation. We identify the catalytic activity to be encoded within a previously unannotated domain, the crystal structure of which reveals a distinct protein fold with no homology to any of the known DUBs. The crystal structure of MINDY-1 (also known as FAM63A) in complex with propargylated Ub reveals conformational changes that realign the active site for catalysis. MINDY-1 prefers cleaving long polyUb chains and works by trimming chains from the distal end. Collectively, our results reveal a new family of DUBs that may have specialized roles in regulating proteostasis" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27292798" ]

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[ "http://www.uniprot.org/uniprot/FA63A_MOUSE", "http://www.uniprot.org/uniprot/FA63A_PONAB", "http://www.uniprot.org/uniprot/FA63A_BOVIN", "http://www.uniprot.org/uniprot/FA63A_RAT", "http://www.uniprot.org/uniprot/FA63A_DANRE", "http://www.uniprot.org/uniprot/FA63A_HUMAN" ]

[ "Benserazide is a peripheral decarboxylase inhibitor. Benserazide in combination with L-DOPA constitutes a slow-release formulation of L-DOPA in patients with Parkinson's disease (PD), it reduces peaks and rapid fluctuations of L-DOPA plasma levels (possibly responsible for peak-dose dyskinesias and end-of-dose deterioration) and considered as the best available therapy." ]

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[ "Recent human and animal biochemical investigations clearly confirm and extend previous findings indicating that benserazide is much more potent than carbidopa as peripheral decarboxylase inhibitor. L-DOPA in combination with benserazide or carbidopa constitutes the best available therapy for Parkinson's disease (PD). To reduce peaks and rapid fluctuations of L-DOPA plasma levels (possibly responsible for peak-dose dyskinesias and end-of-dose deterioration) a slow-release formulation of L-DOPA in combination with benserazide or with benserazide plus catechol-O-methyltransferase inhibitors should be developed. ", "In an open label study 63 patients with idiopathic Parkinson's disease suffering from end-of-dose akinesia were switched from a treatment with a L-DOPA standard formulation to a combined therapy of L-DOPA standard in the morning and L-DOPA slow release (levodopa, benserazide, Madopar Depot) at the remaining single doses.", "In the present study, L-dopa and benserazide were loaded by poly (lactic-co-glycolic acid) microspheres (LBM), which can release levodopa and benserazide in a sustained manner in order to continuous stimulate dopaminergic receptors." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20303948", "http://www.ncbi.nlm.nih.gov/pubmed/3768865", "http://www.ncbi.nlm.nih.gov/pubmed/12703659", "http://www.ncbi.nlm.nih.gov/pubmed/11166288", "http://www.ncbi.nlm.nih.gov/pubmed/8584079", "http://www.ncbi.nlm.nih.gov/pubmed/11587490", "http://www.ncbi.nlm.nih.gov/pubmed/25511986", "http://www.ncbi.nlm.nih.gov/pubmed/6437857", "http://www.ncbi.nlm.nih.gov/pubmed/9372552", "http://www.ncbi.nlm.nih.gov/pubmed/452602" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:14330", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275540", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010300", "http://www.biosemantics.org/jochem#4275540" ]

[ "Statistically assessing the relation between a set of genomic regions and other genomic features is a common challenging task in genomic and epigenomic analyses. regioneR is an R package that implements a permutation test framework specifically designed to work with genomic regions. In addition to the predefined randomization and evaluation strategies, regioneR is fully customizable allowing the use of custom strategies to adapt it to specific questions. Finally, it also implements a novel function to evaluate the local specificity of the detected association. regioneR is an R package released under Artistic-2.0 License. The source code and documents are freely available through Bioconductor (http://www.bioconductor.org/packages/regioneR).", "RegioneR is an R/Bioconductor package for the association analysis of genomic regions based on permutation tests. It implements a permutation test framework specifically designed to work with genomic regions. In addition to the predefined randomization and evaluation strategies, regioneR is fully customizable allowing the use of custom strategies to adapt it to specific questions. Finally, it also implements a novel function to evaluate the local specificity of the detected association.", "Statistically assessing the relation between a set of genomic regions and other genomic features is a common challenging task in genomic and epigenomic analyses. Randomization based approaches implicitly take into account the complexity of the genome without the need of assuming an underlying statistical model. regioneR is an R package that implements a permutation test framework specifically designed to work with genomic regions. In addition to the predefined randomization and evaluation strategies, regioneR is fully customizable allowing the use of custom strategies to adapt it to specific questions. Finally, it also implements a novel function to evaluate the local specificity of the detected association. The source code and documents are freely available through Bioconductor (http://www.bioconductor.org/packages/regioneR)." ]

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[ "regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests", "regioneR is an R package that implements a permutation test framework specifically designed to work with genomic regions. In addition to the predefined randomization and evaluation strategies, regioneR is fully customizable allowing the use of custom strategies to adapt it to specific questions. Finally, it also implements a novel function to evaluate the local specificity of the detected association.", "Randomization based approaches implicitly take into account the complexity of the genome without the need of assuming an underlying statistical model.regioneR is an R package that implements a permutation test framework specifically designed to work with genomic regions", "In addition to the predefined randomization and evaluation strategies, regioneR is fully customizable allowing the use of custom strategies to adapt it to specific questions", "Finally, it also implements a novel function to evaluate the local specificity of the detected association.regioneR is an R package released under Artistic-2.0 License", "The source code and documents are freely available through Bioconductor (http://www.bioconductor.org/packages/regioneR).rmalinverni@carrerasresearch.org.<CopyrightInformation>© The Author 2015" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26424858" ]

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[ "Drug repositioning, exemplified by sildenafil and thalidomide, is a promising way to explore alternative indications for existing drugs. THE USE OF A DRUG WITH A TEMPORARY MARKETING AUTHORISATION: Thalidomide is currently available in France for nominative or cohort use with a temporary marketing authorisation (TMA). Currently, it is used for a few indications; in Brazil, where leprosy is endemic, thalidomide is used for the treatment of erythema nodosum leprosum, and recent cases of thalidomide embryopathy have been reported.We analyzed the frequency of births with phenotypes consistent with thalidomide embryopathy (TEP) and correlated this with the distribution of thalidomide and the prevalence of leprosy between 2005 and 2010 in Brazil.A total of 5,889,210 thalidomide tablets were distributed; the prevalence of limb reduction defects was 1.60 (CI95%: 1.54-1.66) and TEP was 0.11 (CI95%: 0.10-0.13) Currently it includes a group of new drugs (immunosuppressives tacrolimus mycophenolate, thalidomide, biologic therapy, probiotics, neuroinflammation blockers), new treatment techniques (cytaphereses, sequential immunosuppression, immunosuppression with high doses), and finally new indications (chemoprophylaxis). A review of the therapeutic indications for thalidomide in dermatology as well as the mechanisms of action and side-effects of this drug are presented.", "Thalidomide can be used to treat multiple myeloma, polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS) syndrome and possibly Irritable Bowel Syndrome." ]

[ "Multiple myeloma", "polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes", "POEMS", "Irritable Bowels Syndrome ", "IBS" ]

[ "In this retrospective study, pharmacy claims were analyzed for those patients with a diagnosis of MM who received thalidomide, lenalidomide, or pomalidomide from a large specialty pharmacy in the US between January 1, 2011, and December 31, 2013.", "Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS) syndrome is a fatal systemic disorder associated with plasma cell dyscrasia and the overproduction of the vascular endothelial growth factor (VEGF). Recently, the prognosis of POEMS was substantially improved by introduction of therapeutic intervention for myeloma. However, no randomised clinical trial has been performed because of the rarity and severity of the disease.METHODS AND ANALYSIS: The Japanese POEMS syndrome with Thalidomide (J-POST) Trial is a phase II/III multicentre, double-blinded, randomised, controlled trial that aims to evaluate the efficacy and safety of a 24-week treatment with thalidomide in POEMS syndrome", "Thalidomide could relieve clinical symptoms and intestinal mucosal lesions effectively in children with refractory inflammatory bowel disease (IBD) from the pre-clinical study.", "In reactional states of leprosy the use of thalidomide is established.", "The use of thalidomide was never discontinued in Brazil where it is prescribed for leprosy type 2 reaction.", "New uses of thalidomide.", "Currently, it is used for a few indications; in Brazil, where leprosy is endemic, thalidomide is used for the treatment of erythema nodosum leprosum, and recent cases of thalidomide embryopathy have been reported.We analyzed the frequency of births with phenotypes consistent with thalidomide embryopathy (TEP) and correlated this with the distribution of thalidomide and the prevalence of leprosy between 2005 and 2010 in Brazil.A total of 5,889,210 thalidomide tablets were distributed; the prevalence of limb reduction defects was 1.60 (CI95%: 1.54-1.66) and TEP was 0.11 (CI95%: 0.10-0.13) per 10,000 births.", "The comeback of thalidomide to the legitimate status of a marketed drug came in 1998 when it received FDA approval for the treatment of erythema nodosum leprosum (ENL)", "To explore the inhibitory effect of thalidomide combined with interferon (IFN) on the human acute myeloid leukemia cell line Kasumi- 1 and its mechanism.The inhibitiory effect of Kasumi- 1 cells by thalidomide, interferon or combination was detected by CCK- 8 method, the apoptosis by flow cytometry, the expression of apoptosis related proteins by Western blot, vascular endothelial growth factor (VEGF) concentration in culture supernatant by ELISA.Thalidomide inhibited the proliferation of Kasumi- 1 in a dose- dependent manner from 50 μg/ml to 500 μg/ml with an IC₅₀ of (451.", "Interferon (INF)-α was the maintenance treatment of choice after autologous stem cell transplantation in multiple myeloma in the past, but currently Thalidomide is commonly used", "However, no randomised clinical trial has been performed because of the rarity and severity of the disease.The Japanese POEMS syndrome with Thalidomide (J-POST) Trial is a phase II/III multicentre, double-blinded, randomised, controlled trial that aims to evaluate the efficacy and safety of a 24-week treatment with thalidomide in POEMS syndrome, with an additional 48-week open-label safety study", "Thalidomide, mainly used for the treatment of leprosy, is a current teratogen in South America, and it is reasonable to assume that at present this situation is affecting many births in underdeveloped countries. ", "Currently, it is used for a few indications; in Brazil, where leprosy is endemic, thalidomide is used for the treatment of erythema nodosum leprosum, and recent cases of thalidomide embryopathy have been reported.We analyzed the frequency of births with phenotypes consistent with thalidomide embryopathy (TEP) and correlated this with the distribution of thalidomide and the prevalence of leprosy between 2005 and 2010 in Brazil.A total of 5,889,210 thalidomide tablets were distributed; the prevalence of limb reduction defects was 1.60 (CI95%: 1.54-1.66) and TEP was 0.11 (CI95%: 0.10-0.13)", "A review of the therapeutic indications for thalidomide in dermatology as well as the mechanisms of action and side-effects of this drug are presented.", "Thalidomide first was marketed as a sedative in the 1950s and withdrawn from the market in 1961 following reports of teratogenicity. Later, it was used as an investigational agent for the treatment of Hansen's disease, Kaposi's sarcoma, myelofibrosis, RAUs, and wasting associated with HIV.", "The drug has since been found effective for several different indications.", "Based on present publications we review indications of the therapy of dermatoses with thalidomide as well as possible mechanisms of action and side effects of this drug.", "Use of thalidomide in dermatological indications.", "Current data demonstrates that thalidomide is clinically promising in multiple myeloma, glioblastoma multiforme and renal cell cancer.", "Erythema nodosum leprosum is the only registered indication for the use of thalidomide in the United States of America.", "Thalidomide is currently under investigation for the treatment of a wide variety of diseases, including conditions thought to have an inflammatory or immune basis, malignancies and complications of infection with HIV.", "Gradually, thalidomide was reintroduced for the treatment of a few skin diseases including leprous erythema nodosum, severe mucosal ulcers (e.g., associated with HIV infection or Behçet's disease), lymphocytic skin infiltrations, cutaneous lupus erythematosus, and chronic graft-versus-host disease", "Thalidomide has been used in several cutaneous inflammatory disorders (such as erythema nodosum leprosum in lepromatous leprosy, cutaneous lupus erythematosus, severe aphtosis), cancers (relapsed/refractory multiple myeloma) and inflammatory conditions.", "This drug was more recently rediscovered as a powerful immunomodulatory and antiinflammatory agent and was approved by the FDA in 1998 for treatment of erythema nodosum leprosum.", " Since, however, it has been found to be an effective drug in erythema nodosum leprosum" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12423428", "http://www.ncbi.nlm.nih.gov/pubmed/18034532", "http://www.ncbi.nlm.nih.gov/pubmed/26462773", "http://www.ncbi.nlm.nih.gov/pubmed/26652728", "http://www.ncbi.nlm.nih.gov/pubmed/18050580", "http://www.ncbi.nlm.nih.gov/pubmed/24931258", "http://www.ncbi.nlm.nih.gov/pubmed/11809002", "http://www.ncbi.nlm.nih.gov/pubmed/9098920", "http://www.ncbi.nlm.nih.gov/pubmed/24196904", "http://www.ncbi.nlm.nih.gov/pubmed/22650376", "http://www.ncbi.nlm.nih.gov/pubmed/25828060", "http://www.ncbi.nlm.nih.gov/pubmed/23142220", "http://www.ncbi.nlm.nih.gov/pubmed/11717819", "http://www.ncbi.nlm.nih.gov/pubmed/11235821", "http://www.ncbi.nlm.nih.gov/pubmed/25573527", "http://www.ncbi.nlm.nih.gov/pubmed/17274497", "http://www.ncbi.nlm.nih.gov/pubmed/8592478", "http://www.ncbi.nlm.nih.gov/pubmed/12190008", "http://www.ncbi.nlm.nih.gov/pubmed/6841082" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056687", "http://www.biosemantics.org/jochem#4018109", "http://www.biosemantics.org/jochem#4017077", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4250023", "http://www.biosemantics.org/jochem#4250023", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013792" ]

[ "Reactive metabolites are generated when a small molecule, commonly a drug or hydrocarbon, is broken down in the body. Reactive metabolites can cause cancer and other diseases as well as hepatoxicty. " ]

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[ "The results implicate the cis-enedial reactive metabolite of DIOB was responsible for the observed toxicities. The observed modest depletion of hepatic GSH in DIOB-treated animals suggests the actions of one or more reactive metabolites, and the hepatic injury observed could be due at least in part to reactions of these metabolites with crucial biomolecules. Cytochrome P450 3A enzymes are implicated in DIOB-induced hepatotoxicities by catalyzing the formation of the reactive metabolite of DIOB.", ". The neurotoxicity of endosulfan and its metabolites is closely related to oxidative damage and antioxidative deficit.", "Our data from this study strongly indicate that Dic as well as its metabolites could be involved in the hepato-toxic action through inhibition of ATP synthesis.", "Reactive metabolites can form adducts with trapping reagents, such as glutathione, which makes the reactive metabolites detectable.", "[Reactive metabolites of xenobiotics : their role in the hepatotoxicity of drugs].", "The formation of reactive metabolites has been associated with the observed hepatotoxicity.", "Electrochemical oxidation of troglitazone: identification and characterization of the major reactive metabolite in liver microsomes.", "DNA bases attack by reactive metabolites produced during carbon tetrachloride biotransformation and promotion of liver microsomal lipid peroxidation.", "Certain drugs are transformed into reactive metabolites by cytochrome P-450, a hepatic microsomal enzyme. The reactive metabolites covalently bind to hepatocyte macromolecules, thus determining liver lesions. Induction of microsomial enzymes increases the formation of reactive metabolites and exaggerates hepatotoxicity of these drugs.", "It is generally accepted that a predominant pathway of drug-induced toxicity is through the generation of reactive metabolites.", "In addition, the incidence and nature of adverse reactions associated with a given drug is probably determined in large measure by the location of reactive metabolite formation, as well as the chemical reactivity of the reactive metabolite.", "Reactive metabolite-mediated toxicity is frequently limited to the organ where the electrophilic metabolites are generated.", "While there is a disproportionate number of compounds metabolized to reactive metabolites that are associated with drug-induced hepatotoxicity and serious skin toxicities such as toxic endothelial necrolysis and Steven's Johnson syndrome, ", "Central to most hypotheses of the mechanism of idiosyncratic drug-induced blood dyscrasias is the involvement of reactive metabolite", "Although idiosyncratic adverse drug reactions are rare, they are still a major concern to patient safety. Reactive metabolites are widely accepted as playing a pivotal role in the pathogenesis of idiosyncratic adverse drug reactions. ", "detection and identification of minor reactive metabolites are equally important since the minor metabolites, even though at low levels, may be highly reactive and also play an important role in drug-induced adverse reactions. ", "Metabolic activation of a drug leading to reactive metabolite(s) that can covalently modify proteins is considered an initial step that may lead to drug-induced organ toxicities.", "Reactive metabolites are believed to be responsible for most idiosyncratic drug reactions.", " This review will focus on our current understanding and speculative views on how a reactive metabolite of a drug might ultimately lead to immune-mediated toxicity", "he decline in approval of new drugs during the past decade has led to a close analysis of the drug discovery process. One of the main reasons for attrition is preclinical toxicity, frequently attributed to the generation of protein-reactive drug metabolites.", "Reactive metabolites are estimated to be one of the main reasons behind unexpected drug-induced toxicity, by binding covalently to cell proteins or DNA", "rug metabolism can result in the formation of highly reactive metabolites that are known to play a role in toxicity resulting in a significant proportion of attrition during drug development and clinical use. ", "The formation of reactive metabolites through biotransformation is the suspected cause of many adverse drug reactions. ", "Drug bioactivation leading to the formation of reactive species capable of covalent binding to proteins represents an important cause of drug-induced toxicity.", "The traditional view of these reactive oxygen metabolites is one of oxidative stress and damage that leads to decline of tissue and organ systems in aging and disease", " A number of withdrawn drugs are known to undergo bioactivation by a range of drug metabolizing enzymes to chemically reactive metabolites that bind covalently to protein and DNA resulting in organ toxicity and carcinogenesis" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/159767", "http://www.ncbi.nlm.nih.gov/pubmed/8987247", "http://www.ncbi.nlm.nih.gov/pubmed/25363902", "http://www.ncbi.nlm.nih.gov/pubmed/26627130", "http://www.ncbi.nlm.nih.gov/pubmed/21469730", "http://www.ncbi.nlm.nih.gov/pubmed/25851819", "http://www.ncbi.nlm.nih.gov/pubmed/23090860", "http://www.ncbi.nlm.nih.gov/pubmed/26735163", "http://www.ncbi.nlm.nih.gov/pubmed/12093356", "http://www.ncbi.nlm.nih.gov/pubmed/9614200", "http://www.ncbi.nlm.nih.gov/pubmed/16235238", "http://www.ncbi.nlm.nih.gov/pubmed/25174933", "http://www.ncbi.nlm.nih.gov/pubmed/22681489", "http://www.ncbi.nlm.nih.gov/pubmed/21148252", "http://www.ncbi.nlm.nih.gov/pubmed/16967439", "http://www.ncbi.nlm.nih.gov/pubmed/18788755", "http://www.ncbi.nlm.nih.gov/pubmed/1628536", "http://www.ncbi.nlm.nih.gov/pubmed/9144833", "http://www.ncbi.nlm.nih.gov/pubmed/21083235", "http://www.ncbi.nlm.nih.gov/pubmed/17145699" ]

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[ "Chronic administration of traditional levodopa/dopa decarboxylase inhibitor formulations to Paskinson's Disease patients is associated with the development of complications, such as wearing-off phenomenon. Wearing-off phenomenon is characterized by the predictable emergence of motor symptoms (e.g. rigidity and freezing) and nonmotor PD symptoms (e.g. anxiety and shortness of breath), before the next scheduled dose of medication." ]

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[ "It is unlike the \"wearing-off\" phenomenon that occurs when dopaminergic drug levels decline and responds to dopaminergic rescue drugs. ", "Unfortunately, chronic use of traditional levodopa/dopa decarboxylase inhibitor formulations is associated with the development of complications, such as wearing-off and dyskinesia.", "One of the first complications observed with levodopa therapy is wearing-off, which can emerge within 1-3 years of initiation of levodopa treatment. Wearing-off is characterized by the predictable emergence of motor and nonmotor PD symptoms before the next scheduled dose of medication. Despite effective treatment options to tackle wearing-off, it remains underrecognized and under treated. ", "Shortness of breath, a 'wearing-off' symptom in Parkinson's disease.", "Although levodopa is considered the gold standard for Parkinson's disease therapy, prolonged use of this drug can result in motor complications such as a 'wearing-off' phenomenon. This outcome is seen in a significant number of patients with Parkinson's disease taking levodopa and, in some cases, is observed only a few hours after intake of the last dose of levodopa. Patients experiencing the wearing-off period may present with sensory, autonomic, psychiatric and motor fluctuations. Although infrequent, shortness of breath is an important non-motor wearing-off symptom experienced by patients with Parkinson's disease.", "We report here on a patient with Parkinson's disease who was taking levodopa and developed both shortness of breath and hyperventilation during wearing-off periods.", "His shortness of breath was determined to be a wearing-off phenomenon and his condition improved with the addition of a catechol-O-methyltransferase inhibitor (entacapone).", "The wearing-off phenomenon in patients with Parkinson's disease (PD) is a complication of prolonged levodopa usage. During this phenomenon, motor symptoms such as rigidity and freezing re-emerge. This is often accompanied by non-motor symptoms, including anxiety, the so-called wearing-off related anxiety (WRA). ", "Patients with wearing-off tended to receive higher L-dopa dosage and endure longer duration of L-dopa treatment. ", "The wearing-off phenomenon frequently complicates levodopa therapy of Parkinson's disease (PD).", "The effects of tolcapone, a catechol-O-methyltransferase inhibitor, on the bioavailability and efficacy of levodopa were evaluated in 12 patients with Parkinson's disease (PD), 8 of whom showed signs of daily motor fluctuations (wearing-off phenomenon).", "Although infrequent, shortness of breath is an important non-motor wearing-off symptom experienced by patients with Parkinson's disease.", "Although levodopa is considered the gold standard for Parkinson's disease therapy, prolonged use of this drug can result in motor complications such as a 'wearing-off' phenomenon.", "More than 50% of patients with Parkinsons disease develop motor response fluctuations (the wearing off\" phenomenon) after more than five years of levodopa therapy", "More than 50% of patients with Parkinsons disease develop motor response fluctuations (the \"wearing off\" phenomenon) after more than five years of levodopa therapy", "The wearing-off phenomenon in patients with Parkinsons disease (PD) is a complication of prolonged levodopa usage", "Short-term effect of a single levodopa dose on micturition disturbance in Parkinsons disease patients with the wearing-off phenomenon", "To evaluate the effectiveness of entacapone in the management of levodopa wearing-off in Parkinsons disease (PD) in a naturalistic, real-life setting.This prospective, open-label, observational study included patients with idiopathic PD. Patients were eligible for inclusion if they had been taking 3-5 doses of levodopa per day for ≥2 months and had shown signs of levodopa wearing-off for ≥1 month", "The duration of clinical control of motor symptoms of Parkinson disease (PD) treated with levodopa/carbidopa preparations eventually starts to shorten, a phenomenon known as end-of-dose \"wearing off.\" The involvement of core nonmotor symptoms of \"wearing off\" (depressed mood, pain/aching, anxiety, and cloudy/slowed thinking) is not well understood.", "Efficacy and tolerability of entacapone in patients with Parkinsons disease treated with levodopa plus a dopamine agonist and experiencing wearing-off motor fluctuations", "The efficacy and tolerability of entacapone was investigated in a randomized, double-blind, placebo-controlled, 3-month study of 162 patients with Parkinsons disease (PD) treated with levodopa and a dopamine agonist and experiencing wearing-off motor fluctuations", "Efficacy and safety of entacapone in levodopa/carbidopa versus levodopa/benserazide treated Parkinsons disease patients with wearing-off", "We conclude that tolcapone as an adjunct offers promise for the relief of the \"wearing-off \" phenomenon in levodopa-treated parkinsonian patients.", "We conclude that tolcapone as an adjunct offers promise for the relief of the \"wearing-off\" phenomenon in levodopa-treated parkinsonian patients.", "Our data also support the involvement of postsynaptic dopamine receptor mechanisms in the wearing-off phenomenon seen in levodopa-treated parkinsonian patients.", "Short-term effect of a single levodopa dose on micturition disturbance in Parkinson's disease patients with the wearing-off phenomenon.", "It is unlike the \"wearing-off\" phenomenon that occurs when dopaminergic drug levels decline and responds to dopaminergic rescue drugs. ", "More than 50% of patients with Parkinson's disease develop motor response fluctuations (the 'wearing off\" phenomenon) after more than five years of levodopa therapy.", "The primary objective of this study was to assess the effect of tolcapone on levodopa dosage in parkinsonian patients whose \"wearing-off\" phenomenon has been controlled with more frequent levodopa dosage.", "More than 50% of patients with Parkinson's disease develop motor response fluctuations (the \"wearing off\" phenomenon) after more than five years of levodopa therapy.", "To evaluate the role of the practicing pharmacist in the identification and current treatment of the levodopa wearing-off phenomenon experienced by patients with Parkinson's disease (PD) who are receiving chronic levodopa therapy.Literature retrieval was accessed through MEDLINE (1967-June 2007) using the terms levodopa, wearing-off, and Parkinson's disease.", "This study investigated the effects of OPC in comparison with placebo on levodopa pharmacokinetics, tolerability and safety, COMT activity and motor response to levodopa in Parkinson's disease (PD) patients with motor fluctuations.This was a randomized, multicentre, double-blind and placebo-controlled study in four parallel groups of PD patients treated with standard-release 100/25 mg levodopa/carbidopa or levodopa/benserazide and with motor fluctuations (wearing-OFF phenomenon).", "Patients experiencing the wearing-off period may present with sensory, autonomic, psychiatric and motor fluctuations. Although infrequent, shortness of breath is an important non-motor wearing-off symptom experienced by patients with Parkinson's disease.", "This outcome is seen in a significant number of patients with Parkinson's disease taking levodopa and, in some cases, is observed only a few hours after intake of the last dose of levodopa. Patients experiencing the wearing-off period may present with sensory, autonomic, psychiatric and motor fluctuations. Although infrequent, shortness of breath is an important non-motor wearing-off symptom experienced by patients with Parkinson's disease.", "Although levodopa is considered the gold standard for Parkinson's disease therapy, prolonged use of this drug can result in motor complications such as a 'wearing-off' phenomenon. This outcome is seen in a significant number of patients with Parkinson's disease taking levodopa and, in some cases, is observed only a few hours after intake of the last dose of levodopa. Patients experiencing the wearing-off period may present with sensory, autonomic, psychiatric and motor fluctuations.", "It is suggested that tolcapone may be useful drug adjunct to levodopa in treating patients with PD with wearing-off phenomena.", "It is suggested that tolcapone may be useful drug adjunct to levodopa in treating patients with PD with wearing-off phenomena..", "Levodopa-treated Parkinson's disease is often complicated by the occurrence of motor fluctuations, which can be predictable ('wearing-off') or unpredictable ('on-off').", "She was treated with 400 mg/day of levodopa-carbidopa, which improved her symptoms, however, she developed wearing off phenomenon 3 years after the initiation of levodopa treatment.", "[Benefit of L-DOPA-without-DCI (decarboxylase inhibitor) therapy on wearing-off phenomenon in advanced stages of Parkinson's disease patients].", "To evaluate the role of the practicing pharmacist in the identification and current treatment of the levodopa wearing-off phenomenon experienced by patients with Parkinson's disease (PD) who are receiving chronic levodopa therapy.", "However, once the decision to initiate levodopa therapy has been made, studies generally support the use of entacapone as an adjunct to levodopa in patients with Parkinson's disease and the 'wearing off' phenomenon..", "These results suggest that wearing-off phenomenon may arise as a consequence of the degeneration of dopamine terminals due to natural disease progression with a resultant inability to buffer variations in levodopa availability; on-off phenomenon, may reflect additional postsynaptic dopamine receptor dysregulation, possibly in response to the resultant, nonphysiologic fluctuations in synaptic dopamine..", "Conversion from oral to intravenous levodopa treatment immediately stabilized plasma levodopa levels in both the wearing-off and on-off groups; motor variability also decreased, especially in those with wearing-off phenomenon." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25616444", "http://www.ncbi.nlm.nih.gov/pubmed/16805724", "http://www.ncbi.nlm.nih.gov/pubmed/14960500", "http://www.ncbi.nlm.nih.gov/pubmed/15098347", "http://www.ncbi.nlm.nih.gov/pubmed/10654309", "http://www.ncbi.nlm.nih.gov/pubmed/11889758", "http://www.ncbi.nlm.nih.gov/pubmed/3435068", "http://www.ncbi.nlm.nih.gov/pubmed/16381182", "http://www.ncbi.nlm.nih.gov/pubmed/12722172", "http://www.ncbi.nlm.nih.gov/pubmed/3042912", "http://www.ncbi.nlm.nih.gov/pubmed/3579222", "http://www.ncbi.nlm.nih.gov/pubmed/15824341", "http://www.ncbi.nlm.nih.gov/pubmed/26347184", "http://www.ncbi.nlm.nih.gov/pubmed/26101038", "http://www.ncbi.nlm.nih.gov/pubmed/19793544", "http://www.ncbi.nlm.nih.gov/pubmed/21942133", "http://www.ncbi.nlm.nih.gov/pubmed/8024257", "http://www.ncbi.nlm.nih.gov/pubmed/17878397", "http://www.ncbi.nlm.nih.gov/pubmed/2682215", "http://www.ncbi.nlm.nih.gov/pubmed/9339691", "http://www.ncbi.nlm.nih.gov/pubmed/9343116", "http://www.ncbi.nlm.nih.gov/pubmed/25985062", "http://www.ncbi.nlm.nih.gov/pubmed/27942720", "http://www.ncbi.nlm.nih.gov/pubmed/24830331", "http://www.ncbi.nlm.nih.gov/pubmed/12658373", "http://www.ncbi.nlm.nih.gov/pubmed/18922214", "http://www.ncbi.nlm.nih.gov/pubmed/10439935", "http://www.ncbi.nlm.nih.gov/pubmed/8771074", "http://www.ncbi.nlm.nih.gov/pubmed/9591523", "http://www.ncbi.nlm.nih.gov/pubmed/9591522", "http://www.ncbi.nlm.nih.gov/pubmed/19715385", "http://www.ncbi.nlm.nih.gov/pubmed/25649051", "http://www.ncbi.nlm.nih.gov/pubmed/9399217", "http://www.ncbi.nlm.nih.gov/pubmed/9203084", "http://www.ncbi.nlm.nih.gov/pubmed/8255478" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010300", "http://www.biosemantics.org/jochem#4222145", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007980", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275540", "http://www.disease-ontology.org/api/metadata/DOID:14330", "http://www.biosemantics.org/jochem#4001922", "http://www.biosemantics.org/jochem#4257430", "http://www.biosemantics.org/jochem#4275540" ]

[ "Prion diseases are protein conformation disorders and neither caused by viroid or virus but is a transmissible particle labeled a prion by Pruisner. Normal prion protein becomes infectious by a different folding, but the triggers are not known. ", "A prion is an infectious agent composed entirely of protein and is responsible for a number of neurodegenerative diseases. Prions are self-propagating infectious protein isoforms. " ]

[]

[ "Prion diseases are protein conformation disorders and neither caused by viroid or virus but is a transmissible particle labeled a prion by Pruisner. Normal prion protein becomes infectious by a different folding, but the triggers are not known. ", "Prions are proteins most commonly associated with fatal neurodegenerative diseases in mammals but are also responsible for a number of harmless heritable phenotypes in yeast. These states arise when a misfolded form of a protein appears and, rather than be removed by cellular quality control mechanisms, persists. The misfolded prion protein forms aggregates and is capable of converting normally folded protein to the misfolded state through direct interaction between the two forms.", "Prion diseases or transmissible spongiform encephalopathies are fatal neurodegenerative diseases characterized by the aggregation and deposition of the misfolded prion protein in the brain. ", "Several neurodegenerative diseases such as transmissible spongiform encephalopathies, Alzheimer's and Parkinson's diseases are caused by the conversion of cellular proteins to a pathogenic conformer. ", "Prions are self-propagating infectious protein isoforms.", "Prions are units of propagation of an altered state of a protein or proteins; prions can propagate from organism to organism, through cooption of other protein copies" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26297259", "http://www.ncbi.nlm.nih.gov/pubmed/27833227", "http://www.ncbi.nlm.nih.gov/pubmed/22363733", "http://www.ncbi.nlm.nih.gov/pubmed/25645281", "http://www.ncbi.nlm.nih.gov/pubmed/27293325", "http://www.ncbi.nlm.nih.gov/pubmed/24390581" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011328", "http://www.disease-ontology.org/api/metadata/DOID:649", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017096", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000072002" ]

[ "Yes, vitamin D induces autophagy." ]

[ "yes" ]

[ " 1,25(OH)2D treatment was accompanied by autophagy activation ", "Autophagy signaling pathway was regulated by vitamin D3", "vitamin D induces autophagy", "Vitamin D shows promise for the prevention and amelioration of pathologic responses in IBD, an effect that is mediated, at least in part, by the induction and modulation of autophagy." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27915989", "http://www.ncbi.nlm.nih.gov/pubmed/27430408", "http://www.ncbi.nlm.nih.gov/pubmed/26562100", "http://www.ncbi.nlm.nih.gov/pubmed/27174720" ]

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[]

[ "sQTLseekeR is an R package for the identification of genetic variants associated with alternative splicing. It is based on a statistical framework that uses a distance-based approach to compute the variability of splicing ratios across observations, and a non-parametric analogue to multivariate analysis of variance." ]

[]

[ "Identification of genetic variants associated with alternative splicing using sQTLseekeR.", "We develop a statistical framework that uses a distance-based approach to compute the variability of splicing ratios across observations, and a non-parametric analogue to multivariate analysis of variance. We implement this approach in the R package sQTLseekeR and use it to analyze RNA-Seq data from the Geuvadis project in 465 individuals. We identify hundreds of single nucleotide polymorphisms (SNPs) as splicing QTLs (sQTLs), including some falling in genome-wide association study SNPs. By developing the appropriate metrics, we show that sQTLseekeR compares favorably with existing methods that rely on univariate approaches, predicting variants that behave as expected from mutations affecting splicing", "Identification of genetic variants associated with alternative splicing using sQTLseekeR", "Identification of genetic variants associated with alternative splicing using sQTLseekeR." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25140736" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017398", "http://amigo.geneontology.org/amigo/term/GO:0000380" ]

[ "Creutzfeldt-Jakob disease (CJD) is the most prevalent of the human prion diseases, which are fatal and transmissible neurodegenerative diseases caused by the infectious prion protein (PrP(Sc)). The origin of CJD is unknown, although the initiating event is thought to be the stochastic misfolding of endogenous prion protein (PrP(C)) into infectious PrP(Sc).", "Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system Creutzfeldt-Jakob disease (sCJD) is the most prevalent of the human prion diseases, which are fatal and transmissible neurodegenerative diseases caused by the infectious prion protein (PrP(Sc)", "Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system" ]

[]

[ "Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease affecting the central nervous system", "Creutzfeldt-Jakob disease (sCJD) is the most prevalent of the human prion diseases, which are fatal and transmissible neurodegenerative diseases caused by the infectious prion protein (PrP(Sc)", "The origin of sCJD is unknown, although the initiating event is thought to be the stochastic misfolding of endogenous prion protein (PrP(C)) into infectious PrP(Sc).", "Creutzfeldt-Jakob disease (CJD) is a progressive, fatal, neurodegenerative disease classified under transmissible spongiform encephalopathies (TSE) or prion diseases", "Sporadic Creutzfeldt-Jakob disease (CJD) is the most prevalent manifestation of the transmissible spongiform encephalopathies or prion diseases affecting humans", "Creutzfeldt-Jakob disease (CJD) is a rare, degenerative and fatal brain disease that appears to be caused by an abnormal form of a protein called a prion.", "Creutzfeldt-Jakob disease (CJD) is presumably caused by a slow infectious pathogen or prion. The principal clinical features of Creutzfeldt-Jakob disease are dementia, pyramidal and extrapyramidal symptoms and signs, cerebellar dysfunction, and myoclonus.", "Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, neurodegenerative disorder causing dramatic neuromuscular symptoms, profound dementia, and death.", "Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder.", "Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative condition with a rapid disease course and a mortality rate of 100%.", "Creutzfeldt-Jakob disease is a rare, but rapidly progressive, up to now untreatable and fatal neurodegenerative disorder", "Creutzfeldt-Jakob disease is a rare neurodegenerative disease that belongs to the group of human spongiform encephalopathies and usually affects elderly people.", "Creutzfeldt-Jakob disease (CJD) is a transmissible spongiform encephalopathy" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21303352", "http://www.ncbi.nlm.nih.gov/pubmed/11115241", "http://www.ncbi.nlm.nih.gov/pubmed/1777133", "http://www.ncbi.nlm.nih.gov/pubmed/26840797", "http://www.ncbi.nlm.nih.gov/pubmed/16023527", "http://www.ncbi.nlm.nih.gov/pubmed/9660576", "http://www.ncbi.nlm.nih.gov/pubmed/26840342", "http://www.ncbi.nlm.nih.gov/pubmed/22930754", "http://www.ncbi.nlm.nih.gov/pubmed/19702572", "http://www.ncbi.nlm.nih.gov/pubmed/26646926", "http://www.ncbi.nlm.nih.gov/pubmed/12811992", "http://www.ncbi.nlm.nih.gov/pubmed/25552850", "http://www.ncbi.nlm.nih.gov/pubmed/27665282", "http://www.ncbi.nlm.nih.gov/pubmed/26454226" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:11949", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007562" ]

[ "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex." ]

[]

[ "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. ", "Absence of the nipple, areola (athelia), or the breast tissue (amastia) is less frequent.", "The absence of nipple-areola complex is a rare entity and is always associated with other anomalies. This paper described a case of bilateral athelia without other alterations.", "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who presented with a spectrum of nipple anomalies ranging from unilateral hypothelia to bilateral athelia but no other consistently associated anomalies except a characteristic eyebrow shape.", "Athelia is a very rare entity that is defined by the absence of the nipple-areola complex." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24872738", "http://www.ncbi.nlm.nih.gov/pubmed/24781087", "http://www.ncbi.nlm.nih.gov/pubmed/15950955" ]

[]

[]

[ "Yes. Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. RASA2 expression was lost in ≥30% of human melanomas and was associated with reduced patient survival. These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer." ]

[ "yes" ]

[ "Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas. Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration. RASA2 expression was lost in ≥30% of human melanomas and was associated with reduced patient survival. These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer.", "Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas", "These findings identify RASA2 inactivation as a melanoma driver and highlight the importance of RasGAPs in cancer.", "Recurrent loss-of-function mutations in RASA2 were found to increase RAS activation, melanoma cell growth and migration.", "Analysis of 501 melanoma exomes identified RASA2, encoding a RasGAP, as a tumor-suppressor gene mutated in 5% of melanomas." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26502337" ]

[]

[ "http://www.uniprot.org/uniprot/RASA2_RAT", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008545", "http://www.disease-ontology.org/api/metadata/DOID:1909", "http://www.uniprot.org/uniprot/RASA2_HUMAN", "http://www.uniprot.org/uniprot/RASA2_MOUSE" ]

[ "A community wide effort to evaluate biomedical information extraction and text mining." ]

[]

[ " two biomedical named entity recognition (NER) comparative evaluations that have been held to date, namely BioCreative and Coling ", "The BioCreative II.5 community challenge addressed these tasks in a competition-style assessment to evaluate and compare different methodologies, to make aware of the increasing accuracy of automated methods, and to guide future implementations. In this paper, we present our approaches for protein-named entity recognition,", "In task 1A of the BioCreAtIvE evaluation, systems had to be devised that recognize words and phrases forming gene or protein names in natural language sentences", "BioCreAtIvE, a competition for automated gene/protein name recognition.", "An overview of the BioCreative 2012 Workshop Track III: interactive text mining task.", "Biocuration workflows and text mining: overview of the BioCreative 2012 Workshop Track II.", "Evaluation of text-mining systems for biology: overview of the Second BioCreative community challenge.", "How to link ontologies and protein-protein interactions to literature: text-mining approaches and the BioCreative experience.", "The 2006 BioCreative competition was aimed at evaluating text-mining procedures in comparison with manual annotation of protein-protein interactions. ", "RESULTS: The Biocreative 2010 competition addressed three tasks: gene normalization, article classification and interaction method identification. ", "BioCreAtIvE task 2 was an experiment to test if automatically derived classification using information retrieval and extraction could assist expert biologists in the annotation of the GO vocabulary to the proteins in the UniProt Knowledgebase.", "To this end BioCreative I was held in 2004, BioCreative II in 2007, and BioCreative II.5 in 2009. Each of these workshops involved humanly annotated test data for several basic tasks in text mining applied to the biomedical literature.", "BACKGROUND: The overall goal of the BioCreative Workshops is to promote the development of text mining and text processing tools which are useful to the communities of researchers and database curators in the biological sciences. To this end BioCreative I was held in 2004, BioCreative II in 2007, and BioCreative II.5 in 2009.", "BACKGROUND: The overall goal of the BioCreative Workshops is to promote the development of text mining and text processing tools which are useful to the communities of researchers and database curators in the biological sciences. To this end BioCreative I was held in 2004, BioCreative II in 2007, and BioCreative II.5 in 2009. Each of these workshops involved humanly annotated test data for several basic tasks in text mining applied to the biomedical literature.", "To this end BioCreative I was held in 2004, BioCreative II in 2007, and BioCreative II.5 in 2009. Each of these workshops involved humanly annotated test data for several basic tasks in text mining applied to the biomedical literature. Participants in the workshops were invited to compete in the tasks by constructing software systems to perform the tasks automatically and were given scores based on their performance.", "Overview of BioCreAtIvE: critical assessment of information extraction for biology." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18629295", "http://www.ncbi.nlm.nih.gov/pubmed/18834491", "http://www.ncbi.nlm.nih.gov/pubmed/22151647", "http://www.ncbi.nlm.nih.gov/pubmed/23327936", "http://www.ncbi.nlm.nih.gov/pubmed/18834496", "http://www.ncbi.nlm.nih.gov/pubmed/16504116", "http://www.ncbi.nlm.nih.gov/pubmed/23160416", "http://www.ncbi.nlm.nih.gov/pubmed/27589962", "http://www.ncbi.nlm.nih.gov/pubmed/22151968", "http://www.ncbi.nlm.nih.gov/pubmed/20498514", "http://www.ncbi.nlm.nih.gov/pubmed/22438567", "http://www.ncbi.nlm.nih.gov/pubmed/18834487", "http://www.ncbi.nlm.nih.gov/pubmed/22151178", "http://www.ncbi.nlm.nih.gov/pubmed/15960842", "http://www.ncbi.nlm.nih.gov/pubmed/15960843", "http://www.ncbi.nlm.nih.gov/pubmed/15960821" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063369" ]

[ "Contrave(?) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity", "Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity", "Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity." ]

[ "Obesity" ]

[ "Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity", "Assuming that the results of the Contrave phase III clinical program reaffirm the efficacy and safety of the drug combination, this agent could be approved and launched to become a market leader in the anti-obesity therapeutic arena.", "Current antiobesity medications and pharmacological strategies will be reviewed.Two new antiobesity drugs - naltrexone/bupropion (Contrave) and liraglutide (Saxenda) - were approved by the US Food and Drug Administration in 2014 and join four other approved obesity medications, including phentermine/topiramate XR (Qsymia) and lorcaserin (Belviq), to form the largest number of medications available for the treatment of obesity.", "The Contrave Obesity Research I (COR-I) study assessed the effect of such treatment on bodyweight in overweight and obese participants.Men and women aged 18-65 years who had a body-mass index (BMI) of 30-45 kg/m(2) and uncomplicated obesity or BMI 27-45 kg/m(2) with dyslipidaemia or hypertension were eligible for enrolment in this randomised, double-blind, placebo-controlled, phase 3 trial undertaken at 34 sites in the USA.", "Contrave, under development by Orexigen Therapeutics Inc for the potential treatment of obesity, is an oral, sustained-release combination of the dopamine and norepinephrine reuptake antagonist bupropion and the opioid antagonist naltrexone.", "Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity, and is used with lifestyle modification.", "Naltrexone/bupropion: Contrave(R); naltrexone SR/bupropion SR.", "Contrave, a bupropion and naltrexone combination therapy for the potential treatment of obesity.", "Naltrexone/bupropion ER (Contrave): newly approved treatment option for chronic weight management in obese adults.", " The use of synergies of anti-obesity drugs with different mechanisms of action is an effective approach for developing new combined pharmaceutical compositions (Contrave®", "Oral naltrexone extended-release/bupropion extended-release (naltrexone ER/bupropion ER; Contrave(®), Mysimba(™)) is available as an adjunct to a reduced-calorie diet and increased physical activity in adults with an initial body mass index (BMI) of ≥ 30 kg/m(2) (i.e. obese) or a BMI of ≥ 27 kg/m(2) (i.e. overweight) in the presence of at least one bodyweight-related comorbidity, such as type 2 diabetes mellitus, hypertension or dyslipidaemia. ", "naltrexone/bupropion (NB32 or Contrave®)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20673995", "http://www.ncbi.nlm.nih.gov/pubmed/22313529", "http://www.ncbi.nlm.nih.gov/pubmed/26679384", "http://www.ncbi.nlm.nih.gov/pubmed/26105116", "http://www.ncbi.nlm.nih.gov/pubmed/25258511", "http://www.ncbi.nlm.nih.gov/pubmed/26222044", "http://www.ncbi.nlm.nih.gov/pubmed/26957883", "http://www.ncbi.nlm.nih.gov/pubmed/20509712", "http://www.ncbi.nlm.nih.gov/pubmed/26313898", "http://www.ncbi.nlm.nih.gov/pubmed/21951371", "http://www.ncbi.nlm.nih.gov/pubmed/26648466", "http://www.ncbi.nlm.nih.gov/pubmed/19777400", "http://www.ncbi.nlm.nih.gov/pubmed/23408728" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009271", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055553", "http://www.biosemantics.org/jochem#4276121", "http://www.biosemantics.org/jochem#4249647", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016642" ]

[ "The gene encoding DAT1 consists of 15 exons spanning 60 kb and is located on chromosome 5p15.3." ]

[ "5p15.3" ]

[ "The gene encoding DAT1 consists of 15 exons spanning 60 kb on chromosome 5p15.32.", "The locus of the solute carrier 6A3 (SLC6A3; dopamine transporter 1; DAT1) localizes to 5p15.33; the gene has repeatedly been implicated in the etiology of ADHD. ", "In 29 adults with attention deficit hyperactivity disorder (ADHD) striatal dopamine transporter (DAT) availability was assessed by [(99m)Tc]TRODAT-1 SPECT and correlated with 3' VNTR polymorphism of the DAT gene on chromosome 5p15.3. ", "Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR.", "The gene encoding DAT1 consists of 15 exons spanning 60 kb on chromosome 5p15.32. ", "The dopamine transporter (DAT1) is a membrane spanning protein that binds the neurotransmitter dopamine and performs re-uptake of dopamine from the synapse into a neuron. The gene encoding DAT1 consists of 15 exons spanning 60 kb on chromosome 5p15.32. Several studies have investigated the possible associations between variants in DAT1 gene and psychiatric disorders.", "The dopamine transporter (DAT1) is a membrane spanning protein that binds the neurotransmitter dopamine and performs re-uptake of dopamine from the synapse into a neuron. The gene encoding DAT1 consists of 15 exons spanning 60 kb on chromosome 5p15.32.", "Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16222334", "http://www.ncbi.nlm.nih.gov/pubmed/1478653", "http://www.ncbi.nlm.nih.gov/pubmed/19779799", "http://www.ncbi.nlm.nih.gov/pubmed/16861140", "http://www.ncbi.nlm.nih.gov/pubmed/17579611" ]

[]

[ "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275128", "http://www.biosemantics.org/jochem#4275128", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004298", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050483" ]

[ "The mutation event giving rise to industrial melanism in Britain was the insertion of a large, tandemly repeated, transposable element into the first intron of the gene cortex." ]

[ "transposable element insertion" ]

[ "The industrial melanism mutation in British peppered moths is a transposable element.", "Here we show that the mutation event giving rise to industrial melanism in Britain was the insertion of a large, tandemly repeated, transposable element into the first intron of the gene cortex." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27251284", "http://www.ncbi.nlm.nih.gov/pubmed/12298233", "http://www.ncbi.nlm.nih.gov/pubmed/12140267" ]

[]

[]

[ "Huntington disease (HD; OMIM 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide CAG (polyQ) motif in the HTT gene. Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD).", "Huntington disease is a progressive neurodegenerative disorder and is caused by an expanded trinucleotide CAG (polyQ) motif in the HTT gene." ]

[ "HTT or IT-15 gene or HD gene" ]

[ "Huntington disease (HD; OMIM 143100), a progressive neurodegenerative disorder, is caused by an expanded trinucleotide CAG (polyQ) motif in the HTT gene.", "Huntington's disease (HD) is caused by a genetic mutation that results in polyglutamine expansion in the N-terminal regions of huntingtin.", "Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD).", "Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin.", "Huntington disease is a monogenic, autosomal dominant, progressive neurodegenerative disorder caused by a trinucleotide CAG repeat expansion in exon 1 of the huntingtin (HTT) gene; age of onset of clinical symptoms inversely correlates with expanded CAG repeat length", "The causative gene (mutated HTT) is widely expressed outside the CNS and several peripheral signs of disease, including weight loss and increased proinflammatory signalling, are often seen; however, their importance in the pathophysiology of Huntington's disease is not clear.", "Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by a single-gene mutation: a CAG expansion in the huntingtin (HTT) gene that results in production of a mutated protein, mutant HTT, with a polyglutamine tail (polyQ-HTT).", "Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the normal function of huntingtin and the effects of the mutation on its function and on its neuronal location remain unknown. To study whether mutated huntingtin has the same neuronal distribution and intracellular location as normal huntingtin, we analyzed immunohistochemically both forms of this protein in the brain of 5 controls and 5 patients with Huntington's disease.", "Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the normal function of huntingtin and the effects of the mutation on its function and on its neuronal location remain unknown.", "Huntingtons disease (HD) is a hereditary disorder involving the central nervous system. Its effects are devastating, to the affected person as well as his family.", "Huntington disease (HD) is a neurodegenerative disorder due to an excessive number of CAG repeats in the IT15 gene on chromosome 4.", "Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene", "The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene", "Huntington's disease in relation to the number of trinucleotide CAG repeats in IT-15 gene", "Huntington's disease (HD) is a neurological condition of progressive course that results from abnormally increased number of CAG repeats within IT-15 gene, coding for huntington.", "Huntington's disease (HD) is a neurodegenerative disorder characterized by the expansion of CAG repeats in exon 1 of the HD gene", "However, not all patients with an HD phenotype carry the pathological expansion in HTT, and the positive diagnosis rate is poor", "The expansion of a polymorphic CAG repeat in the HD gene encoding huntingtin has been identified as the major cause of Huntington's disease (HD) and determines 42-73% of the variance in the age-at-onset of the disease", "Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline, and psychiatric symptoms, caused by a CAG repeat expansion in the huntingtin (HTT) gene on chromosome 4p", "The disorder is caused by mutation in the gene encoding the huntingtin protein (Htt), producing intracellular aggregates", "HD is less common in other ethnic groups. Huntington's disease is caused by an expanded trinucleotide CAG repeat in the HD gene on chromosome 4. The gene encodes for the protein huntingtin, with an as yet unknown functio" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25993131", "http://www.ncbi.nlm.nih.gov/pubmed/1839672", "http://www.ncbi.nlm.nih.gov/pubmed/25254119", "http://www.ncbi.nlm.nih.gov/pubmed/26863614", "http://www.ncbi.nlm.nih.gov/pubmed/18651325", "http://www.ncbi.nlm.nih.gov/pubmed/19059613", "http://www.ncbi.nlm.nih.gov/pubmed/26160070", "http://www.ncbi.nlm.nih.gov/pubmed/16109169", "http://www.ncbi.nlm.nih.gov/pubmed/15651335", "http://www.ncbi.nlm.nih.gov/pubmed/11723754", "http://www.ncbi.nlm.nih.gov/pubmed/19816846", "http://www.ncbi.nlm.nih.gov/pubmed/26079385", "http://www.ncbi.nlm.nih.gov/pubmed/12805114", "http://www.ncbi.nlm.nih.gov/pubmed/9392570", "http://www.ncbi.nlm.nih.gov/pubmed/25931812", "http://www.ncbi.nlm.nih.gov/pubmed/12523115", "http://www.ncbi.nlm.nih.gov/pubmed/16847693", "http://www.ncbi.nlm.nih.gov/pubmed/27400454", "http://www.ncbi.nlm.nih.gov/pubmed/26466780", "http://www.ncbi.nlm.nih.gov/pubmed/8985734", "http://www.ncbi.nlm.nih.gov/pubmed/24196395", "http://www.ncbi.nlm.nih.gov/pubmed/11494364" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:1289", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006816", "http://www.disease-ontology.org/api/metadata/DOID:12858" ]

[ "PHYLUCE is a software package for the analysis of conserved genomic loci. It identifies targeted, enriched loci from the off-target background data; aligns enriched contigs representing conserved loci to one another; and prepare and manipulate these alignments for subsequent phylogenomic inference. PHYLUCE is an efficient and easy-to-install software package that accomplishes these tasks across hundreds of taxa and thousands of enriched loci", "PHYLUCE is a software package for the analysis of conserved genomic loci" ]

[ "PHYLUCE" ]

[ "PHYLUCE is a software package for the analysis of conserved genomic loci", "Prior to downstream inference, data from these types of targeted enrichment studies must undergo preprocessing to assemble contigs from sequence data; identify targeted, enriched loci from the off-target background data; align enriched contigs representing conserved loci to one another; and prepare and manipulate these alignments for subsequent phylogenomic inference. PHYLUCE is an efficient and easy-to-install software package that accomplishes these tasks across hundreds of taxa and thousands of enriched loci.", "PHYLUCE is a software package for the analysis of conserved genomic loci." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26530724" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012984", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017124" ]

[ "Christianson syndrome is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities." ]

[ "SLC9A6" ]

[ "X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.", "CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes. ", "A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.", "BACKGROUND: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. ", "BACKGROUND: Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia.", "OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). ", "Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.", "Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6.", "Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. ", "We report on two children with CS and confirmed mutations in SLC9A6 focusing on neuroimaging findings and review the available literature. ", "Mutations in the SLC9A6 gene cause Christianson syndrome in boys.", "Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.", "This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome.", "Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum", "Mutations in the SLC9A6 gene cause Christianson syndrome in boys. ", "A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).", "Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. ", "Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures. ", "This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome. ", "The single-gene disorders include Pitt–Hopkins syndrome (TCF4), Christianson syndrome (SLC9A6), Mowat–Wilson syndrome (ZEB2), Kleefstra syndrome (EHMT1), and Rett (MECP2) syndrome.", "In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6.", "Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia.", "Mutations in SLC9A6 are associated with Christianson syndrome (OMIM 300243), a syndromic form of X-linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures.", "Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6.", "A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.", "CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes.", "Our studies in heterozygous Slc9a6 KO female mice provide important clues for understanding the likely phenotypic range of Christianson syndrome among females heterozygous for SLC9A6 mutations and might improve diagnostic practice and genetic counseling by helping to characterize this presumably underappreciated patient/carrier group.", "A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).", "X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24630051", "http://www.ncbi.nlm.nih.gov/pubmed/18342287", "http://www.ncbi.nlm.nih.gov/pubmed/26421989", "http://www.ncbi.nlm.nih.gov/pubmed/25044251", "http://www.ncbi.nlm.nih.gov/pubmed/25273398", "http://www.ncbi.nlm.nih.gov/pubmed/27142213", "http://www.ncbi.nlm.nih.gov/pubmed/26515654", "http://www.ncbi.nlm.nih.gov/pubmed/27256868", "http://www.ncbi.nlm.nih.gov/pubmed/20949524", "http://www.ncbi.nlm.nih.gov/pubmed/25002837", "http://www.ncbi.nlm.nih.gov/pubmed/27590723", "http://www.ncbi.nlm.nih.gov/pubmed/24839169", "http://www.ncbi.nlm.nih.gov/pubmed/24285247", "http://www.ncbi.nlm.nih.gov/pubmed/24779060", "http://www.ncbi.nlm.nih.gov/pubmed/21964919", "http://www.ncbi.nlm.nih.gov/pubmed/21932316", "http://www.ncbi.nlm.nih.gov/pubmed/22541666" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154" ]

[ "Eteplirsen (Exondys 51) is an antisense oligonucleotide designed to induce exon 51 skipping that is developed by Sarepta Therapeutics. Intravenous eteplirsen has received accelerated approval from the US FDA for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene amenable to exon 51 skipping.\nBy the method of exon skipping in dystrophin pre-mRNA the reading frame is restored and the internally deleted but functional dystrophin is produced." ]

[]

[ "Eteplirsen (Exondys 51) is an antisense oligonucleotide designed to induce exon 51 skipping that is developed by Sarepta Therapeutics. Intravenous eteplirsen has received accelerated approval from the US FDA for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene amenable to exon 51 skipping.", "Exon skipping is a therapeutic approach for Duchenne muscular dystrophy (DMD) that has been in development for close to two decades. This approach uses antisense oligonucleotides (AONs) to modulate pre-mRNA splicing of dystrophin transcripts to restore the disrupted DMD reading frame. ", "By the method of exon skipping in dystrophin pre-mRNA the reading frame is restored and the internally deleted but functional dystrophin is produced. ", "s, eteplirsen, a phosphorodiamidate morpholino oligomer, enabled dystrophin production in Duchenne muscular dystrophy (DMD) with genetic mutations amenable to skipping exon 51. ", "Restoration of the open reading frame of the DMD gene and dystrophin protein production in Duchenne muscular dystrophy (DMD) can be achieved by exon skipping using antisense oligomers (AOs) targeted to splicing elements. ", "We previously conducted a proof of principle; dose escalation study in Duchenne muscular dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.) injection.", "AVI-4658 is a phosphorodiamidate morpholino oligomer (PMO) designed to induce skipping of dystrophin exon 51 and restore its expression in patients with Duchenne muscular dystrophy (DMD)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27807823", "http://www.ncbi.nlm.nih.gov/pubmed/21540335", "http://www.ncbi.nlm.nih.gov/pubmed/25980936", "http://www.ncbi.nlm.nih.gov/pubmed/22086232", "http://www.ncbi.nlm.nih.gov/pubmed/27936976", "http://www.ncbi.nlm.nih.gov/pubmed/23907995", "http://www.ncbi.nlm.nih.gov/pubmed/23995279", "http://www.ncbi.nlm.nih.gov/pubmed/23075107" ]

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[ "SINEUPs represent a new class of natural and synthetic antisense long non-coding RNAs that activate translation. These molecules have been named SINEUPs since their function requires the activity of an embedded inverted SINEB2 sequence to UP-regulate translation. Natural SINEUPs suggest that embedded Transposable Elements may represent functional domains in long non-coding RNAs. Synthetic SINEUPs may be designed by targeting the antisense sequence to the mRNA of choice representing the first scalable tool to increase protein synthesis of potentially any gene of interest." ]

[]

[ "SINEUPs: A new class of natural and synthetic antisense long non-coding RNAs that activate translation", "In this review, we will detail the discovery of a new functional class of natural and synthetic antisense lncRNAs that stimulate translation of sense mRNAs. These molecules have been named SINEUPs since their function requires the activity of an embedded inverted SINEB2 sequence to UP-regulate translation. Natural SINEUPs suggest that embedded Transposable Elements may represent functional domains in long non-coding RNAs. Synthetic SINEUPs may be designed by targeting the antisense sequence to the mRNA of choice representing the first scalable tool to increase protein synthesis of potentially any gene of interest", "SINEUPs are modular antisense long non-coding RNAs that increase synthesis of target proteins in cells", "In summary, SINEUPs represent the first scalable tool to increase synthesis of proteins of interest. We propose SINEUPs as reagents for molecular biology experiments, in protein manufacturing as well as in therapy of haploinsufficiencies", "In summary, SINEUPs represent the first scalable tool to increase synthesis of proteins of interest", "We propose SINEUPs as reagents for molecular biology experiments, in protein manufacturing as well as in therapy of haploinsufficiencies", "These molecules have been named SINEUPs since their function requires the activity of an embedded inverted SINEB2 sequence to UP-regulate translation", "Natural SINEUPs suggest that embedded Transposable Elements may represent functional domains in long non-coding RNAs", "Synthetic SINEUPs may be designed by targeting the antisense sequence to the mRNA of choice representing the first scalable tool to increase protein synthesis of potentially any gene of interest", "We have previously identified SINEUPs as a new functional class of natural and synthetic long non-coding RNAs that through the activity of an inverted SINEB2 element are able to promote translation of partially overlapping sense coding mRNAs", "Here we show that by taking advantage of their modular structure, synthetic SINEUPs can be designed to increase production of secreted proteins", "These results lead us to propose synthetic SINEUPs as new versatile tools to optimize production of secreted proteins in manufacturing pipelines and natural SINEUPs as new regulatory RNAs in the secretory pathways. <CopyrightInformation>Copyright © 2015 Elsevier B.V. All rights reserved.</", "It is the representative member of SINEUPs (SINEB2 sequence to UP-regulate translation), a new functional class of natural antisense lncRNAs that activate translation of their sense genes", "Recently, an antisense lncRNA to mouse Ubiquitin carboxyl-terminal hydrolase L1 (Uchl1) was reported to increase UCHL1 protein synthesis, representing a new functional class of lncRNAs, designated as SINEUPs, for SINE element-containing translation UP-regulators.", "We have previously identified SINEUPs as a new functional class of natural and synthetic long non-coding RNAs that through the activity of an inverted SINEB2 element are able to promote translation of partially overlapping sense coding mRNAs.", "We named this class of RNAs SINEUPs for their requirement of the inverted SINEB2 sequence to UP-regulate translation in a gene-specific manner.", "It is the representative member of SINEUPs (SINEB2 sequence to UP-regulate translation), a new functional class of natural antisense lncRNAs that activate translation of their sense genes.", "SINEUPs are long antisense non-coding RNAs that up-regulate translation in mammalian cells in a gene-specific manner, although, so far evidence of SINEUP efficacy has only been demonstrated in in vitro systems." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26259533", "http://www.ncbi.nlm.nih.gov/pubmed/27646849", "http://www.ncbi.nlm.nih.gov/pubmed/26029048", "http://www.ncbi.nlm.nih.gov/pubmed/26045368", "http://www.ncbi.nlm.nih.gov/pubmed/25883552", "http://www.ncbi.nlm.nih.gov/pubmed/27265476" ]

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[ "Trichotillomania is a hair pulling disorder." ]

[ "Trichotillomania is a hair pulling disorder." ]

[ "Trichotillomania (hair pulling disorder, HPD) is characterized by significant psychological distress, childhood-onset, and, in adults, certain cognitive deficits such as inhibitory control. ", "TRICHOTILLOMANIA (HAIR PULLING DISORDER)", "Hair pulling disorder (HPD; trichotillomania) is thought to be associated with significant psychiatric comorbidity and functional impairment. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27137957", "http://www.ncbi.nlm.nih.gov/pubmed/26001984", "http://www.ncbi.nlm.nih.gov/pubmed/26580849" ]

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[ "Raxibacumab is a recombinant human IgG1 monoclonal antibody that binds the protective antigen of Bacillus anthracis, thus blocking toxin effects.\nIt is approved to treat inhalational anthrax." ]

[]

[ " Raxibacumab, an IgG1 monoclonal antibody, binds the protective antigen (PA) of Bacillus anthracis, thus blocking toxin effects and leading to improved survival in the rabbit and monkey models of inhalational anthrax. ", "RESULTS: Interesting results were obtained using monoclonal antibodies: raxibacumab, cAb29 or cocktails of antibodies.", "We showed previously in a 96-h sedated canine model that raxibacumab, a monoclonal antibody against protective antigen, augmented hemodynamic support (HS) and improved survival with lethal toxin challenge.", "On December 14, 2012, the FDA approved Raxibacumab, the first monoclonal antibody product developed under Project BioShield to achieve this milestone, and the first biologic product to be approved through the FDA animal efficacy rule (or \"Animal Rule\").", "With the only anthrax toxin inhibiting therapy (protective antigen-targeting with a monoclonal antibody, raxibacumab) approved to treat inhalational anthrax, the situation, in our view, is still insecure.", "Raxibacumab is a recombinant human monoclonal antibody developed against inhalational anthrax.", "Raxibacumab is the first monoclonal antitoxin antibody made available that can be used with the antibiotics recommended for treatment of the disease.", "Antibiotics can control B. anthracis bacteremia, whereas raxibacumab binds PA and blocks lethal toxin effects. ", "Blocking the activity of the toxins with raxibacumab, a fully-human mAb directed against the protective antigen of Bacillus anthracis, may serve as an adjunct treatment. ", "Raxibacumab is a human IgG1lambda monoclonal antibody directed against protective antigen, a component of the anthrax toxin.", "Raxibacumab (ABthrax) is a human IgG1 monoclonal antibody against Bacillus anthracis protective antigen. ", "Raxibacumab for the treatment of inhalational anthrax.", "Added benefit of raxibacumab to antibiotic treatment of inhalational anthrax.", "To assess raxibacumab's added benefit over levofloxacin (LVX) alone, rabbits surviving to 84 h after a challenge with 200 times the median (50%) lethal dose of B. anthracis spores were randomized to receive 3 daily intragastric LVX doses of 50 mg/kg of body weight, with the first LVX dose administered just prior to administration of a single intravenous dose of placebo or 40 mg/kg raxibacumab. ", "Raxibacumab is a human IgG1lambda monoclonal antibody directed against protective antigen, a component of the anthrax toxin. ", "Bacillus anthracis protective antigen kinetics in inhalation spore-challenged untreated or levofloxacin/ raxibacumab-treated New Zealand white rabbits.", "Raxibacumab is approved for the treatment of adult and pediatric patients with inhalational anthrax due to Bacillus anthracis in combination with appropriate antibiotic drugs and for prophylaxis of inhalational anthrax when alternative therapies are not available or not appropriate.", "The availability of bioterrorism countermeasures has become more important since the September 2001 anthrax attacks, and development of raxibacumab is a significant advance in this area.", "With the only anthrax toxin inhibiting therapy (protective antigen-targeting with a monoclonal antibody, raxibacumab) approved to treat inhalational anthrax, the situation, in our view, is still insecure.", "anthracis bacteremia, whereas raxibacumab binds PA and blocks lethal toxin effects.", "Concentrations of raxibacumab provide a surrogate end point that should be predictive of clinical benefit.CONCLUSIONS: A single dose of raxibacumab improved survival in rabbits and monkeys with symptomatic inhalational anthrax.", "Raxibacumab is a human IgG1lambda monoclonal antibody directed against protective antigen, a component of the anthrax toxin.METHODS: We evaluated the efficacy of raxibacumab as a prophylactic agent and after disease onset in a total of four randomized, placebo-controlled studies conducted in rabbits and monkeys.", "Raxibacumab, an IgG1 monoclonal antibody, binds the protective antigen (PA) of Bacillus anthracis, thus blocking toxin effects and leading to improved survival in the rabbit and monkey models of inhalational anthrax.", "Raxibacumab provides additional protection against inhalational anthrax via a mechanism different from that of either antibiotics or active immunization.", "Raxibacumab for the treatment of inhalational anthrax.", "Raxibacumab for inhalational anthrax: an effective specific therapeutic approach?", "Added benefit of raxibacumab to antibiotic treatment of inhalational anthrax.", "Approval of Raxibacumab for the Treatment of Inhalation Anthrax Under the US Food and Drug Administration \"Animal Rule\"." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24812521", "http://www.ncbi.nlm.nih.gov/pubmed/20068396", "http://www.ncbi.nlm.nih.gov/pubmed/26648915", "http://www.ncbi.nlm.nih.gov/pubmed/23344456", "http://www.ncbi.nlm.nih.gov/pubmed/26094508", "http://www.ncbi.nlm.nih.gov/pubmed/25487792", "http://www.ncbi.nlm.nih.gov/pubmed/26097803", "http://www.ncbi.nlm.nih.gov/pubmed/24447197", "http://www.ncbi.nlm.nih.gov/pubmed/20450444", "http://www.ncbi.nlm.nih.gov/pubmed/19587338", "http://www.ncbi.nlm.nih.gov/pubmed/20811384" ]

[]

[ "http://www.biosemantics.org/jochem#4002353", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045504" ]

[ "The cytoplasmic polyadenylation element (CPE) is the binding platform for CPE-binding protein (CPEB), which promotes polyadenylation-induced translation." ]

[]

[ "CPEB (Cytoplasmic Polyadenylation Element Binding) proteins are a family of four RNA-binding proteins that regulate the translation of maternal mRNAs controlling meiotic cell cycle progression", "The family of cytoplasmic polyadenylation element binding proteins CPEB1, CPEB2, CPEB3, and CPEB4 binds to the 3'-untranslated region (3'-UTR) of mRNA, and plays significant roles in mRNA metabolism and translation regulation. ", "This cytoplasmic polyadenylation element (CPE) is the binding platform for CPE-binding protein (CPEB), which promotes polyadenylation-induced translation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17481902", "http://www.ncbi.nlm.nih.gov/pubmed/26398195", "http://www.ncbi.nlm.nih.gov/pubmed/25066254", "http://www.ncbi.nlm.nih.gov/pubmed/17923234", "http://www.ncbi.nlm.nih.gov/pubmed/23776146" ]

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[ "Yes, SUMOylation that is the conjugation of target proteins with SUMO (small ubiquitin-related modifier), is a type of post-translational modification in eukaryotes." ]

[ "yes" ]

[ "SUMOylation, the conjugation of target proteins with SUMO (small ubiquitin-related modifier), is a type of post-translational modification in eukaryotes and involves the sequential action of activation (E1), conjugation (E2) and ligation (E3) enzymes. ", "Plants have evolved to cope with changing environmental conditions. One way plants achieve this is through post-translational modification of target proteins by ubiquitination and SUMOylation.", "Sumoylation is a post-translational modification essential in most eukaryotes that regulates stability, localization, activity, or interaction of a multitude of proteins.", "SUMOylation, the covalent attachment of a member of the small ubiquitin-like modifier (SUMO) family of proteins to lysines in target substrates, is an essential post-translational modification in eukaryotes. ", "Post-translational modification by SUMO is a highly conserved pathway in eukaryotes that plays very important regulatory roles in many cellular processes. ", "SUMOylation is an essential post-translational modification that regulates a variety of cellular processes including cell cycle progression. Although the SUMOylation pathway has been identified and investigated in many eukaryotes, the mechanisms of SUMOylation in regulating the functions of various substrates are still poorly understood. ", "SUMOylation is a relevant protein post-translational modification in eukaryotes.", "SUMOylation is a reversible post-translational modification essential for genome stability.", "Many SUMOylated lysines have previously been reported to be ubiquitinated, acetylated or methylated, thus indicating cross-talk between SUMO and other post-translational modifications.", "Sumoylation is a post-translational modification shown to play a role in diverse biological processes.", "Besides phosphorylation or ubiquitylation, for which many examples of modulation by pathogens exist, a post-translational modification called SUMOylation was recently shown to be targeted by pathogenic bacteria.", "cruzi SUMOylated proteins are similarly modified, indicating conserved functions for protein SUMOylation in this early divergent eukaryote.", "PML is a potent tumor suppressor and proapoptotic factor and is functionally regulated by post-translational modifications such as phosphorylation, sumoylation, and ubiquitination.", "SUMOylation is an essential post-translational modification that regulates a variety of cellular processes including cell cycle progression.", "SUMOylation in Giardia lamblia: A Conserved Post-Translational Modification in One of the Earliest Divergent Eukaryotes", "SUMOylation, the covalent attachment of a member of the small ubiquitin-like modifier (SUMO) family of proteins to lysines in target substrates, is an essential post-translational modification in eukaryotes", "SUMOylation is a relevant protein post-translational modification in eukaryotes", "Post-translational modifications (PTMs) are one facet of this proteasomal regulation, with over 400 known phosphorylation sites, over 500 ubiquitination sites and 83 internal lysine acetylation sites, as well as multiple sites for caspase cleavage, glycosylation (such as O-GlcNAc modification), methylation, nitrosylation, oxidation, and SUMOylation", "SUMOylation is an important post-translational modification, and Akt SUMOylation was found to regulate cell proliferation, tumorigenesis and cell cycle, but the molecular mechanism of Akt SUMOylation is less well known", "SUMOylation is a form of post-translational modification where small ubiquitin-like modifiers (SUMO) are covalently attached to target proteins to regulate their properties", "One distinctive feature in acute proteotoxic stresses, such as heat shock (HS), is rapid post-translational modification of proteins by SUMOs (small ubiquitin-like modifier proteins; SUMOylation)", "Post-translational modification by the Small Ubiquitin-like Modifier (SUMO) proteins, a process termed SUMOylation, is involved in many fundamental cellular processes", "SUMOylation is an important post-translational modification that is involved in many key biological processes", "Group III metabotropic glutamate receptors (mGluRs) undergo post-translational modification by SUMO in in vitro assays but the SUMOylation of full-length mGluRs in mammalian cells has not been reported", "SUMOylation is a relevant protein post-translational modification in eukaryotes. ", "However, the effects of pathogenic bacteria on SUMOylation, an essential post-translational modification in eukaryotic cells, remain largely unknown. ", "A novel post-translational modification of nucleolin, SUMOylation at Lys-294, mediates arsenite-induced cell death by regulating gadd45� mRNA stability.", "Drosophila Bicoid is a substrate of sumoylation and its activator function is subject to inhibition by this post-translational modification.", "Here, we demonstrate that SUMOylation of RelB might be one of these post-translational modifications rendering the function of the NF-�B transcription factor RelB. ", "In the last decade, SUMOylation has emerged as an essential post-translational modification in eukaryotes.", "SUMOylation, the conjugation of target proteins with SUMO (small ubiquitin-related modifier), is a type of post-translational modification in eukaryotes and involves the sequential action of activation (E1), conjugation (E2) and ligation (E3) enzymes.", "SUMOylation, the covalent attachment of a member of the small ubiquitin-like modifier (SUMO) family of proteins to lysines in target substrates, is an essential post-translational modification in eukaryotes.", "One way plants achieve this is through post-translational modification of target proteins by ubiquitination and SUMOylation.", "The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis.", "Post-translational modification by SUMO is a highly conserved pathway in eukaryotes that plays very important regulatory roles in many cellular processes.", "Many SUMOylated lysines have previously been reported to be ubiquitinated, acetylated or methylated, thus indicating cross-talk between SUMO and other post-translational modifications. We identified 70 phosphorylation and four acetylation events in proximity to SUMOylation sites, and we provide evidence for acetylation-dependent SUMOylation of endogenous histone H3. SUMOylation regulates target proteins involved in all nuclear processes including transcription, DNA repair, chromatin remodeling, precursor-mRNA splicing and ribosome assembly.", "SUMOylation is a reversible post-translational modification essential for genome stability. Using high-resolution MS, we have studied global SUMOylation in human cells in a site-specific manner, identifying a total of>4,300 SUMOylation sites in>1,600 proteins.", "We quantitatively studied SUMOylation dynamics in response to SUMO protease inhibition, proteasome inhibition and heat shock. Many SUMOylated lysines have previously been reported to be ubiquitinated, acetylated or methylated, thus indicating cross-talk between SUMO and other post-translational modifications. We identified 70 phosphorylation and four acetylation events in proximity to SUMOylation sites, and we provide evidence for acetylation-dependent SUMOylation of endogenous histone H3.", "Sumoylation is a post-translational modification shown to play a role in diverse biological processes. Here, we demonstrate that sumoylation is essential for proper heterochromatin function in Drosophila through modification of SU(VAR)3-7. Indeed, SU(VAR)3-7 is sumoylated at lysine K839; this modification is required for localization of SU(VAR)3-7 at pericentric heterochromatin, chromosome 4, and telomeres.", "Sumoylation is a post-translational modification shown to play a role in diverse biological processes. Here, we demonstrate that sumoylation is essential for proper heterochromatin function in Drosophila through modification of SU(VAR)3-7.", "Our results suggest a new level of regulation of Sall activity in vivo during animal development through post-translational modification by sumoylation.", "BACKGROUND: Small Ubiquitin-like MOdifier protein (SUMO) is a key regulator of nuclear functions but little is known regarding the role of the post-translational modification sumoylation outside of the nucleus, particularly in the Central Nervous System (CNS).METHODOLOGY/PRINCIPAL FINDINGS: Here, we report that the expression levels of SUMO-modified substrates as well as the components of the sumoylation machinery are temporally and spatially regulated in the developing rat brain.", "SUMOylation in Giardia lamblia: A Conserved Post-Translational Modification in One of the Earliest Divergent Eukaryotes.", "Identification of a novel post-translational modification in Plasmodium falciparum: protein sumoylation in different cellular compartments.", "More recently, Akt has been identified as a substrate for many different post-translational modifications, including not only phosphorylation of other residues, but also acetylation, glycosylation, oxidation, ubiquitination and SUMOylation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18468939", "http://www.ncbi.nlm.nih.gov/pubmed/20414307", "http://www.ncbi.nlm.nih.gov/pubmed/25561743", "http://www.ncbi.nlm.nih.gov/pubmed/15744326", "http://www.ncbi.nlm.nih.gov/pubmed/21178495", "http://www.ncbi.nlm.nih.gov/pubmed/22192309", "http://www.ncbi.nlm.nih.gov/pubmed/27012284", "http://www.ncbi.nlm.nih.gov/pubmed/21255632", "http://www.ncbi.nlm.nih.gov/pubmed/26259101", "http://www.ncbi.nlm.nih.gov/pubmed/25218447", "http://www.ncbi.nlm.nih.gov/pubmed/24797264", "http://www.ncbi.nlm.nih.gov/pubmed/18547337", "http://www.ncbi.nlm.nih.gov/pubmed/20074036", "http://www.ncbi.nlm.nih.gov/pubmed/20562097", "http://www.ncbi.nlm.nih.gov/pubmed/25997832", "http://www.ncbi.nlm.nih.gov/pubmed/24616021", "http://www.ncbi.nlm.nih.gov/pubmed/24880118", "http://www.ncbi.nlm.nih.gov/pubmed/25867063", "http://www.ncbi.nlm.nih.gov/pubmed/25959766", "http://www.ncbi.nlm.nih.gov/pubmed/25833950", "http://www.ncbi.nlm.nih.gov/pubmed/23273862", "http://www.ncbi.nlm.nih.gov/pubmed/26142185", "http://www.ncbi.nlm.nih.gov/pubmed/20299342", "http://www.ncbi.nlm.nih.gov/pubmed/24140722", "http://www.ncbi.nlm.nih.gov/pubmed/22525038", "http://www.ncbi.nlm.nih.gov/pubmed/27195426", "http://www.ncbi.nlm.nih.gov/pubmed/23387271", "http://www.ncbi.nlm.nih.gov/pubmed/21832256", "http://www.ncbi.nlm.nih.gov/pubmed/18218095", "http://www.ncbi.nlm.nih.gov/pubmed/24970140", "http://www.ncbi.nlm.nih.gov/pubmed/25308709", "http://www.ncbi.nlm.nih.gov/pubmed/22438991", "http://www.ncbi.nlm.nih.gov/pubmed/18621739", "http://www.ncbi.nlm.nih.gov/pubmed/27152458", "http://www.ncbi.nlm.nih.gov/pubmed/25533125", "http://www.ncbi.nlm.nih.gov/pubmed/22584054" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0043687", "http://amigo.geneontology.org/amigo/term/GO:0016925", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058207" ]

[ "Human telomeres are associated with the shelterin complex which consists of six telomere-associated proteins that specifically bind to telomeric DNA. Alterations or removal of individual shelterin components would lead to telomere uncapping and telomere dysfunction, resulting in cellular senescence and transformation to a malignant state." ]

[]

[ "Human telomeres are associated with the shelterin complex which consists of six telomere-associated proteins that specifically bind to telomeric DNA. Alterations or removal of individual shelterin components would lead to telomere uncapping and telomere dysfunction, resulting in cellular senescence and transformation to a malignant state.", "Telomeres interact with numerous proteins, including components of the shelterin complex, whose alteration, similarly to proliferation-induced telomere shortening, initiates cellular senescence.", "Telomere repeat binding factor TRF2 is a member of shelterin complex with an important role in protecting and stabilizing chromosomal ends.", "In human, the shelterin complex binds TTAGGG DNA repeats and provides capping to chromosome ends.", "Shelterin Protects Chromosome Ends by Compacting Telomeric Chromatin.", "Telomeres, repetitive DNA sequences at chromosome ends, are shielded against the DNA damage response (DDR) by the shelterin complex. ", "Telomeres need to be protected by the shelterin complex to avoid junctions occurring between chromosomes while failing topoisomerases or clustered DNA damage processing may produce double-strand breaks, thus requiring swift repair to avoid cell death.", "A multiprotein complex known as shelterin prevents recognition of telomeric sequences as sites of DNA damage. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27814571", "http://www.ncbi.nlm.nih.gov/pubmed/26598048", "http://www.ncbi.nlm.nih.gov/pubmed/26748096", "http://www.ncbi.nlm.nih.gov/pubmed/26921407", "http://www.ncbi.nlm.nih.gov/pubmed/27135879", "http://www.ncbi.nlm.nih.gov/pubmed/26871633", "http://www.ncbi.nlm.nih.gov/pubmed/26119943" ]

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[ "Aducanumab is an anti-Aβ antibody being developed for the treatment of Alzheimer's disease (AD)." ]

[ "Alzheimer's disease" ]

[ " Most importantly, recent trials of three different Aβ antibodies (solanezumab, crenezumab, and aducanumab) have suggested a slowing of cognitive decline in post hoc analyses of mild AD subjects. ", "ecent results from trials of agents such as aducanumab are encouraging but must also be interpreted with caution. Such medicines could potentially delay the onset of dementia and would therefore markedly reduce its prevalence.", "Aducanumab is an anti-Aβ antibody being developed for the treatment of AD, and interim analyses of a phase 1b clinical trial have suggested potential beneficial effects on the amyloid pathology and the cognitive status in patients treated with aducanumab", "The antibody aducanumab reduces Aβ plaques in Alzheimer's disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27025652", "http://www.ncbi.nlm.nih.gov/pubmed/27810931", "http://www.ncbi.nlm.nih.gov/pubmed/27582220", "http://www.ncbi.nlm.nih.gov/pubmed/27251914" ]

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[ "To explore the clonal evolution of monosomy 7 in patients with aplastic anemia (AA).Monosomy 7 (-7) in 81 AA patients with normal karyotype at diagnosis and 46 AA treated with immunosuppressive therapy (IST) and more than 6 months of recombinant human granulocyte colony-stimulating factor (rhuG-CSF) were detected by interphase- fluorescence in situ hybridization (FISH) retrospectively.There were 5.4% - 7.6% of -7 cells in 11 (13.6%) of 81 patients at diagnosis, the survival and response rate to IST in -7 positive patients did not differ s Former molecular cytogenetic studies showed that such aberrations as an equivalent of intrinsic radiosensitivity can be detected by fluorescence in-situ hybridization (FISH) techniques using whole chromosome painting (wcp) probes. Five-color FISH was performed using human DNA segments specific for peri-CEN or subTEL, which were labeled with five different fluorescent dyes [7-diethylaminocoumarin (DEAC): blue, fluorescein isothiocyanate (FITC): green, rhodamine 6G (R6G): yellow, TexRed: red, and cyanine5 (Cy5): purple]. Using this technique, followed by cell-by-cell multicolor fluorescence in situ hybridization (FISH) analysis of purified FNRBCs, we were able to detect some of the most common human aneuploidies (including Down syndrome, Klinefelter syndrome, and trisomy 13) in 33 pregnant women referred for amniocentesis.", "The human syndromes which can be detected with FISH are:\n1) Myelodysplastic Syndrome (MDS)\n2) Genetic syndromes caused by somatic chromosomal mosaicism\n3) Prader Willi syndrome (PWS)\n4) Angelman syndrome (AS)\n5) Williams syndrome\n6) Smith Magenis syndrome \n7) Velocardiofacial syndrome\n8) Jacobsen syndrome\n9) Shwachman-Diamond syndrome\n10) Saethre-Chotzen syndrome \n11) DiGeorge syndrome (DGS) \n12) Velo-cardio-facial syndrome (VCFS)\n13) Miller-Dieker syndrome\n14) Deletion 22q11.2 syndrome (D22S)" ]

[ "Myelodysplastic Syndrome", "MDS", "Genetic syndromes caused by somatic chromosomal mosaicism", "Prader Willi syndrome", "PWS", "Angelman syndrome", "AS", "Williams syndrome", "Smith Magenis syndrome", "Velocardiofacial syndrome", "Jacobsen syndrome", "Shwachman-Diamond syndrome", "Saethre-Chotzen syndrome", "DiGeorge syndrome", "DGS", "Velo-cardio-facial syndrome", "VCFS", "Miller-Dieker syndrome", "Deletion 22q11.2 syndrome", "D22S", "Down syndrome", "Trisomy 21", "DS", "DNS", "Klinefelter Syndrome", "47", "XXY", "KS", "Trisomy 13", "Patau Syndrome" ]

[ "We demonstrate that, using a sensitive FISH technique, 12p deletion occurs significantly more frequently in MDS than previously described (7.6% by CD34+ PB-FISH vs. 1.6% by CBA, P<0.001) and is often associated with other aberrations (93% by CD34+ PB-FISH vs. 60% by CBA)", "Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases.", "The mosaicism was characterized and confirmed by fluorescence in situ hybridization (FISH) and/or chromosome analysis. Different categories of abnormal cell lines were detected: (1) aneuploidy, including sex chromosome abnormalities and isochromosomes (22 cases), (2) ring or marker chromosomes (12 cases), (3) single deletion/duplication copy number variations (CNVs) (11 cases), (4) multiple deletion/duplication CNVs (5 cases), (5) exonic CNVs (4 cases), and (6) unbalanced translocations (3 cases). ", "Positive cases with MLPA technique were confirmed using either fluorescence in situ hybridization (FISH) or follow up confirmatory MLPA probe sets.", "The deletions/duplications detected in non telomeric regions include regions for Prader Willi/Angelman regions, Williams syndrome, Smith Magenis syndrome and Velocardiofacial syndrome.", "The bone marrow specimen from a patient with MDS was comprehensively analyzed by a combination of genomic approaches, including chromosomal karyotyping, fluorescence in situ hybridization (FISH), genome scanning using Affymetrix high density SNP microarray platform, and next-generation sequencing (NGS) analysis using IonTorrent Cancer Gene Panel.", "Detection of TET2 abnormalities by fluorescence in situ hybridization in 41 patients with myelodysplastic syndrome.", "Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes.", "Fluorescence in situ hybridization (FISH) can effectively demonstrate TET2 deletions and is often used to validate molecular results. ", "These findings demonstrate that 1) FISH is an effective and economical method to reveal cryptic abnormalities of band 4q22-q24 resulting in TET2 deletions;", "FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q).", " Using a standardized approach, we focused our investigation on detection of -5/del(5q), -7/del(7q), trisomy 8 and del(20q) in patients with MDS (N=52), MDS/myeloproliferative overlap syndromes (N=7) and acute myeloid leukemia (N=15) using MC, FISH and SNP-A karyotyping. ", "We conclude that MC, FISH and SNP-A are complementary techniques that, when applied and interpreted together, can improve the diagnostic yield for identifying genetic lesions in MDS and contribute to the better description of abnormal karyotypes.", "Here, we report the detection of a reciprocal translocation t(7;21)(p22;q22) in the marrow of two adults with MDS and AML, using conventional cytogenetic analysis and fluorescence-in situ-hybridization (FISH).", "Detection of cytogenetic abnormalities involving chromosomes 5,7 and 8 in myelodysplastic syndromes with fluorescence in situ hybridization and its clinical significance", "To identify the abnormal karyotypes by fluorescence in situ hybridization (FISH) and explore prognostic implications in patients with myelodysplastic syndromes (MDS).", "FISH was used to detect the frequently occurring chromosome abnormalities (-5/5q, +8, -7/7q-) in 37 MDS cases. ", "FISH detected monosomy 7 in 6 samples at the time MDS was diagnosed and in 2 samples at the time AA was diagnosed.", "As chromosomal instability may contribute to leukemogenesis in patients with congenital bone marrow failure (CBMF) disorders, it was the aim of this study to characterize chromosomally aberrant clones that arise during the clinical course of disease by means of R-banding and fluorescence in situ hybridization (FISH) analyses.", "In one child with congenital thrombocytopenia, Jacobsen syndrome [del(11)(q24)c] was diagnosed, and thus a CBMF could be excluded. In a girl with Shwachman-Diamond syndrome, two independent clones, one with an isochromosome i(7)(q10), another with a complex aberrant karyotype, were identified. Simultaneously, transition into a myelodysplastic syndrome (MDS) occurred. The brother, who was also afflicted with Shwachman-Diamond syndrome, showed an isochromosome i(7q) as a single aberration. ", "In summary, we suggest that follow-up of patients with CBMF using chromosome and FISH analyses will be helpful for the early detection of transition into MDS or AML and thus should be an integral part of the clinical management of these patients.", "Here we assess this capability by applying array CGH to the analysis of copy number alterations in 44 patients with a phenotype of the 22q11.2 deletion syndrome. Twenty-five patients had the deletion on chromosome 22 characteristic of this syndrome as determined by fluorescence in situ hybridization (FISH). ", "Subtelomeric aberrations previously detected by fluorescence in situ hybridization (FISH) analysis were confirmed in two patients, and accurate diagnosis was provided in two previously undiagnosed complex cases. Microdeletions at 15q11.2-q13 in a newborn with hypotonia, cryptorchidism, and hypopigmentation were detected with few discrepancies between the array results and FISH analysis. Contiguous microdeletion of GSCL, HIRA and TBX1 genes at 22q11.2 was identified in a previously undiagnosed boy with an unusual presentation of the VCF/DiGeorge spectrum. ", "Detection of 20q(-) chromosome abnormality in myelodysplastic syndrome by interphase fluorescence in situ hybridization", "The results showed that among 52 cases of MDS, 7 (13.5%) cases were positive by FISH, however, of which, 4 cases were positive and the other 3 cases were negative by CC assay. It is concluded that YAC912C3 and interphase FISH providing a powerful technique in the detection of 20q(-) in MDS is an important complement to CC assay.", "A FISH assay was performed to analyze 70 AML/MDS patients who had received conventional cytogenetic analysis (CCA). ", "FISH is a powerful tool to identify or refine chromosomal structural aberrations involving 7q, and it provides accurate evaluation of -7/7q- in all the patients. -7 and 7q- clone frequently coexist in the same specimen, and the significantly increasing percentage of 7q- cells implies that -7 clone secondary to 7q- clone is a result from loss of 7q-.", "Saethre-Chotzen syndrome is a common craniosynostosis syndrome characterized by craniofacial and limb anomalies.", "We propose that initial screening for the FGFR3 P250R mutation, followed by sequencing of TWIST and then fluorescence in situ hybridization (FISH) for deletion detection of TWIST, is sufficient to detect mutations in>80% of patients with the Saethre-Chotzen phenotype.", "We clearly present that the use of SKY combined with conventional G-banding analysis and FISH has assisted in the identification of important chromosomal events that may play a key role in the development of t-MDS.", "n this study, we used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) as complementary techniques for the analysis of two therapy-related secondary myelodysplastic syndrome (t-MDS) cases with complex karyotypes, previously analyzed by G-banding. ", "Comparison of detection of trisomy 8 with fluorescence in situ hybridization and conventional karyotype analysis in myelodysplastic syndrome", "The trisomy 8 clones were simultaneously detected in 48 MDS cases with FISH and conventional cytogenetic analysis (CCA).", "Trisomy 8 was detected in 1 of 15 specimens with normal or abnormal karyotype without trisomy 8 by FISH.", "In conclusion, our results showed that FISH is a sensitive and accurate technique to detect trisomy 8 in MDS patients. It can provide contribute to diagnosis, assessment of curative effect and predicting progress of disease in MDS. ", "Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization", "Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.", "Among 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case)", "Detection of -5/5q- chromosome abnormality in myelodysplastic syndromes by interphase fluorescence in situ hybridization", "In 48 MDS patients, 13 were positive for interphase FISH, of whom, 7 were positive and 6 were negative for conventional cytogenetics (CC).", "Interphase FISH is more sensitive than CC for the detection of -5/5q- in MDS.", "Three cases displayed -7/7q- by conventional cytogenetics(CC) and were confirmed by interphase FISH. Six cases in 43 cases who did not show -7/7q- by CC displayed -7/7q- by interphase FISH.CONCLUSION: Interphase FISH is very useful for the detection of -7 or 7q- in MDS and it is more sensitive than CC.", "Diagnosis of microdeletion syndromes by fluorescence in situ hybridization (FISH).", "Detection of trisomy 8 with interphase fluorescence in situ hybridization in myelodysplastic syndromes", "Interphase FISH was a useful method for the detection of trisomy 8 in MDS, especially in patients with normal karyotype or marker chromosome. ", "Congenital cardiovascular (c-v) malformations are the leading signs of two syndromes of highly variable phenotypes, the DiGeorge syndrome (DGS) and the velo-cardio-facial syndrome (VCFS), both of which in the majority of cases are caused by microdeletion in the chromosome region 22q11.2. ", "In patients with congenital c-v and associated malformations of dysmorphism microdeletion diagnosis of 22q11.2 by FISH is indicated in addition to conventional cytogenetic testing. ", "Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia.", "Fluorescence in situ hybridization of progenitor cells obtained by fluorescence-activated cell sorting for the detection of cells affected by chromosome abnormality trisomy 8 in patients with myelodysplastic syndromes.", "We conclude that the combination of FACS/FISH/BUdR, which determines the number, phenotype and proliferation rate of very rare leukaemic cells in patients with AML or MDS in clinical remission, provides information that is useful in the identification of patients with high and low likelihood of relapse.", "FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.", "We conclude that FISH analysis is a rapid and reliable method for detection of deletions within 15q11-q13 and whenever a deletion is found, FISH analysis of parental chromosomes should also be considered.", "We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15q11-q13 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15S11, SNRPN, D15S10, and GABRB3. ", "Study of clonality in myelodysplastic syndromes: detection of trisomy 8 in bone marrow cell smears by fluorescence in situ hybridization.", "Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.", "Fluorescence in situ hybridization (FISH) was used for the detection of chromosome 15(q11-13) deletions (with probes from the PWS/AS region) and to define the involvement of the telomere in the derivative chromosomes (with library probes and telomere-specific probes).", "Fluorescence in situ hybridization improves the detection of monosomy 7 in myelodysplastic syndromes.", "Detection of monosomy 7 by fluorescence in situ hybridization in acute nonlymphocytic leukemia and myelodysplastic syndrome.", "Fluorescence in situ hybridization (FISH) with a chromosome 7 specific alpha satellite DNA probe was used to detect monosomy 7 in interphase and metaphase cells obtained from patients with myelodysplastic syndrome (MDS) and acute nonlymphocytic leukemia (ANLL).", "A 15-year-old male with myelodysplastic syndrome (MDS) characterized by monosomy 7 was cytogenetically evaluated by metaphase karyotyping and fluorescence in situ hybridization (FISH) of interphase cells at six different points during the course of his disease.", "Fluorescence in situ hybridization (FISH) using two cosmid probes (41A and P13) from the Miller-Dieker syndrome (MDS) critical region in 17p13.3 was performed in a blinded comparison of three MDS patients with submicroscopic deletions and in four normal relatives used as controls.", "These studies demonstrate that in situ hybridization is an efficient method for deletion detection in Miller-Dieker syndrome. ", "This study identified cytogenetic abnormalities in a population screened for deletion 22q11.2 syndrome (D22S) by fluorescence in situ hybridization (FISH) and G-banding and correlated these abnormalities to referring specialty and submitted indications. ", "Positive test results for D22S FISH and other abnormalities found by other FISH assays and G-banding were correlated to submitting specialist and indication", "Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases.", "Deletions of 22q11.2 have been detected in the majority of patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes by either cytogenetic analysis, fluorescence in situ hybridization (FISH), or Southern blot hybridization.", "Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q-.", "To explore the value of multiplex fluorescence in situ hybridization (M-FISH) technique in the detection of the complex chromosomal aberrations (CCAs) in myelodysplastic syndromes (MDS).M-FISH was used in ten MDS patients with R-banding CCAs to refine the complex chromosomal rearrangements, the constitute of marker chromosomes, and to identify the cryptic translocations.Thirty-seven kinds of structural rearrangements were detected by M-FISH including insertion, deletion, translocation and derivative chromosomes, among which 34 kinds were unbalanced rearrangements, and 3 were balanced rearrangements including t(6;22) (q21; q12), t(9; 19) (q13; p13) and t(3;5) (?; ?).", "To explore the clonal evolution of monosomy 7 in patients with aplastic anemia (AA).Monosomy 7 (-7) in 81 AA patients with normal karyotype at diagnosis and 46 AA treated with immunosuppressive therapy (IST) and more than 6 months of recombinant human granulocyte colony-stimulating factor (rhuG-CSF) were detected by interphase- fluorescence in situ hybridization (FISH) retrospectively.There were 5.4% - 7.6% of -7 cells in 11 (13.6%) of 81 patients at diagnosis, the survival and response rate to IST in -7 positive patients did not differ significantly from that in -7 negative patients (P = 0.", "To compare the results of fluorescence in situ hybridization (FISH) versus conventional cytogenetics (CC) in the detection of common chromosomal abnormalities and evaluate the significance of FISH in myelodysplastic syndrome (MDS) .A total of 344 patients with de novo MDS from June 2008 to October 2012 were detected by 6 pairs of probes, including CSF1R/D5S23-D5S721 (5q33) , EGR1/ D5S23-D5S721 (5q31) , D7S486 (7q31) /CSP7, D7S522 (7q31) /CSP7, D20S108/CSP8 (20q12/CSP8) and CSPX/CSPY", "Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21", "To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.Two AS patients and 1 normal fetus in the family were successfully detected by FISH.Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family", "To investigate the prenatal diagnosis of trisomy 21 syndrome using chromosome 13/21 alpha satellite probe fluorescence in situ hybridization (FISH) on uncultured interphase cells from amniotic fluid.The interphase amniocytes of 10 fetuses who were detected normal and 3 fetus who were detected trisomy by prenatal cytogenetic diagnosis were selected", "To optimize the prenatal diagnosis platform by using domestically made fluorescence in situ hybridization(FISH) kit and to explore the clinical application of FISH to rapid prenatal diagnosis of a wide range of chromosomal abnormalities.Amniotic fluid samples from 110 pregnant women were studied with the rapid prenatal diagnosis method of FISH and the conventional cell culture method of karyotyping, the results from both methods were compared.Four cases of trisomy 21, 1 case of trisomy 18, 58 cases of 46, XX, and 47 cases of 46, XY were detected by FISH in the 110 amniotic fluid samples.", "Implementation of Fluorescent in situ hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences.", "Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH).", "Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.", "Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.", "Using this technique, followed by cell-by-cell multicolor fluorescence in situ hybridization (FISH) analysis of purified FNRBCs, we were able to detect some of the most common human aneuploidies (including Down syndrome, Klinefelter syndrome, and trisomy 13) in 33 pregnant women referred for amniocentesis.", "FISH with 5p subtelomeric probes and 18p subtelomeric probe further confirmed that the derivative chromosome 5 has derived from a translocation between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn karyotype.A de novo 5p partial deletion in conjunction with a cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat syndrome.", "We conclude that FISH is a useful, easily applied technique for the diagnosis of 22q11.2 microdeletion syndromes, particularly DGS.", "In group B (n=79), the 5q deletion had been observed by cytogenetics and was confirmed to be present in all cases by fluorescence in situ hybridization of 5q31.CONCLUSIONS: Fluorescence in situ hybridization of 5q31 detected the 5q deletion in 6% of cases without clear evidence of del(5q) by conventional banding cytogenetics. We suggest that fluorescence in situ hybridization of 5q31 should be performed in cases of a suspected '5q- syndrome' and/or if the cytogenetic study shows no metaphases or an aberrant karyotype with chromosome 5 involved (no 5q- chromosome).", "Although conventional cytogenetics is considered the gold standard to detect chromosomal abnormalities in myelodysplastic syndromes (MDS), fluorescence in situ hybridization (FISH) is being increasingly used additionally.", "Cytogenetic aberrations in myelodysplastic syndrome detected by comparative genomic hybridization and fluorescence in situ hybridization.", "To detect chromosomal abnormalities in myelodysplastic syndrome (MDS) patients by fluorescence in situ hybridization (FISH) and conventional cytogenetic analysis (CCA).", "Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.", "Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.", "We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH).", "Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26355708", "http://www.ncbi.nlm.nih.gov/pubmed/1394103", "http://www.ncbi.nlm.nih.gov/pubmed/16351727", "http://www.ncbi.nlm.nih.gov/pubmed/12505257", "http://www.ncbi.nlm.nih.gov/pubmed/26066831", "http://www.ncbi.nlm.nih.gov/pubmed/11424143", "http://www.ncbi.nlm.nih.gov/pubmed/22749034", "http://www.ncbi.nlm.nih.gov/pubmed/9806578", "http://www.ncbi.nlm.nih.gov/pubmed/14669212", "http://www.ncbi.nlm.nih.gov/pubmed/10699172", "http://www.ncbi.nlm.nih.gov/pubmed/16222476", "http://www.ncbi.nlm.nih.gov/pubmed/26829723", "http://www.ncbi.nlm.nih.gov/pubmed/24056568", "http://www.ncbi.nlm.nih.gov/pubmed/17867985", "http://www.ncbi.nlm.nih.gov/pubmed/9763574", "http://www.ncbi.nlm.nih.gov/pubmed/25754580", "http://www.ncbi.nlm.nih.gov/pubmed/10485139", "http://www.ncbi.nlm.nih.gov/pubmed/10493892", "http://www.ncbi.nlm.nih.gov/pubmed/16857771", "http://www.ncbi.nlm.nih.gov/pubmed/1897521", "http://www.ncbi.nlm.nih.gov/pubmed/11769675", "http://www.ncbi.nlm.nih.gov/pubmed/27134897", "http://www.ncbi.nlm.nih.gov/pubmed/17394204", "http://www.ncbi.nlm.nih.gov/pubmed/12513811", "http://www.ncbi.nlm.nih.gov/pubmed/8634784", "http://www.ncbi.nlm.nih.gov/pubmed/15287942", "http://www.ncbi.nlm.nih.gov/pubmed/15949578", "http://www.ncbi.nlm.nih.gov/pubmed/18991056", "http://www.ncbi.nlm.nih.gov/pubmed/8260718", "http://www.ncbi.nlm.nih.gov/pubmed/20064152", "http://www.ncbi.nlm.nih.gov/pubmed/12744739", "http://www.ncbi.nlm.nih.gov/pubmed/11484160", "http://www.ncbi.nlm.nih.gov/pubmed/7627929", "http://www.ncbi.nlm.nih.gov/pubmed/17631477", "http://www.ncbi.nlm.nih.gov/pubmed/8152255", "http://www.ncbi.nlm.nih.gov/pubmed/26509426", "http://www.ncbi.nlm.nih.gov/pubmed/8795688", "http://www.ncbi.nlm.nih.gov/pubmed/9951451", "http://www.ncbi.nlm.nih.gov/pubmed/10464634", "http://www.ncbi.nlm.nih.gov/pubmed/18356781", "http://www.ncbi.nlm.nih.gov/pubmed/12673589", "http://www.ncbi.nlm.nih.gov/pubmed/9359505", "http://www.ncbi.nlm.nih.gov/pubmed/25011965", "http://www.ncbi.nlm.nih.gov/pubmed/10408793", "http://www.ncbi.nlm.nih.gov/pubmed/8882776", "http://www.ncbi.nlm.nih.gov/pubmed/9040786", "http://www.ncbi.nlm.nih.gov/pubmed/12437640", "http://www.ncbi.nlm.nih.gov/pubmed/19758696", "http://www.ncbi.nlm.nih.gov/pubmed/8362906", "http://www.ncbi.nlm.nih.gov/pubmed/10330122", "http://www.ncbi.nlm.nih.gov/pubmed/26815134", "http://www.ncbi.nlm.nih.gov/pubmed/14749005", "http://www.ncbi.nlm.nih.gov/pubmed/24405535", "http://www.ncbi.nlm.nih.gov/pubmed/20226525", "http://www.ncbi.nlm.nih.gov/pubmed/8207974", "http://www.ncbi.nlm.nih.gov/pubmed/10598142", "http://www.ncbi.nlm.nih.gov/pubmed/8149646", "http://www.ncbi.nlm.nih.gov/pubmed/19806569", "http://www.ncbi.nlm.nih.gov/pubmed/12040758", "http://www.ncbi.nlm.nih.gov/pubmed/17701956", "http://www.ncbi.nlm.nih.gov/pubmed/24604040", "http://www.ncbi.nlm.nih.gov/pubmed/12616613", "http://www.ncbi.nlm.nih.gov/pubmed/18428311", "http://www.ncbi.nlm.nih.gov/pubmed/16468325", "http://www.ncbi.nlm.nih.gov/pubmed/27576943", "http://www.ncbi.nlm.nih.gov/pubmed/20677157", "http://www.ncbi.nlm.nih.gov/pubmed/7977469", "http://www.ncbi.nlm.nih.gov/pubmed/25947045", "http://www.ncbi.nlm.nih.gov/pubmed/23450488", "http://www.ncbi.nlm.nih.gov/pubmed/11783350", "http://www.ncbi.nlm.nih.gov/pubmed/9831340", "http://www.ncbi.nlm.nih.gov/pubmed/24398791", "http://www.ncbi.nlm.nih.gov/pubmed/24370037", "http://www.ncbi.nlm.nih.gov/pubmed/8723064", "http://www.ncbi.nlm.nih.gov/pubmed/17649717", "http://www.ncbi.nlm.nih.gov/pubmed/7649555", "http://www.ncbi.nlm.nih.gov/pubmed/18000985", "http://www.ncbi.nlm.nih.gov/pubmed/14666267", "http://www.ncbi.nlm.nih.gov/pubmed/12116251", "http://www.ncbi.nlm.nih.gov/pubmed/11876976", "http://www.ncbi.nlm.nih.gov/pubmed/26392809", "http://www.ncbi.nlm.nih.gov/pubmed/18591625", "http://www.ncbi.nlm.nih.gov/pubmed/17653548", "http://www.ncbi.nlm.nih.gov/pubmed/7666455", "http://www.ncbi.nlm.nih.gov/pubmed/21223721", "http://www.ncbi.nlm.nih.gov/pubmed/7934162" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017404", "http://www.disease-ontology.org/api/metadata/DOID:11983", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011218", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013050", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017403" ]

[ "Epilepsy, ataxia, sensorineural deafness, and tubulopathy comprise EAST syndrome that is associated with recessive mutations in the KCNJ10 gene." ]

[ "epilepsy", "ataxia", "sensorineural deafness", "tubulopathy" ]

[ "This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. ", "Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.", "Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy.", "We next injected splice- and translation-blocking kcnj10 antisense morpholino oligonucleotides and reproduced the cardinal symptoms of EAST syndrome - ataxia, epilepsy and renal tubular defects. ", "AIM: Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.", "EAST syndrome should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like ataxia, epilepsy or sensorineural deafness.<CopyrightInformation>Copyright © 2011 S. Karger AG, Basel.</C", "Recently, mutations in KCNJ10 were recognised as pathogenic in man, causing a constellation of symptoms, including epilepsy, ataxia, sensorineural deafness and a renal tubulopathy designated as EAST syndrome.", "Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.", "EAST syndrome should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like ataxia, epilepsy or sensorineural deafness.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27500072", "http://www.ncbi.nlm.nih.gov/pubmed/21300747", "http://www.ncbi.nlm.nih.gov/pubmed/21633011", "http://www.ncbi.nlm.nih.gov/pubmed/23471908", "http://www.ncbi.nlm.nih.gov/pubmed/23924083", "http://www.ncbi.nlm.nih.gov/pubmed/20651251", "http://www.ncbi.nlm.nih.gov/pubmed/21849804", "http://www.ncbi.nlm.nih.gov/pubmed/21221631" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012816" ]

[ "Inactivated poliovirus vaccine (IPV), developed in the USA by Jonas Salk in the early 1950s, was field tested in 1954,", "The Salk polio Vaccine was field tested in 1954." ]

[ "1954" ]

[ "Inactivated poliovirus vaccine (IPV), developed in the USA by Jonas Salk in the early 1950s, was field tested in 1954,", "the use of an oral polio vaccine (OPV) during a vaccination campaign launched by the Wistar Institute, Philadelphia, PA, USA, in the Belgian Congo in 1958 and 1959. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12931339", "http://www.ncbi.nlm.nih.gov/pubmed/14997988", "http://www.ncbi.nlm.nih.gov/pubmed/11326104" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000071497", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011051", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011052", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011054", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011055", "http://www.disease-ontology.org/api/metadata/DOID:9786", "http://www.disease-ontology.org/api/metadata/DOID:0050513", "http://www.disease-ontology.org/api/metadata/DOID:0050514" ]

[ "Yes, annexin V is an early apoptotic marker.", "Yes, Annexin V is an apoptotic marker." ]

[ "yes" ]

[ "The apoptosis of the MSCs was induced by subjecting the cells to OGD conditions for 4 h and was detected by Annexin V/PI and Hoechst 33258 staining. ", "In addition to the antimicrobial activity, we found that treatment of the cancer cell lines, Jurkat T-cells, Granta cells, and melanoma cells, with the Pseudomonas sp. In5 crude extract increased staining with the apoptotic marker Annexin V while no staining of healthy normal cells, i.e., naïve or activated CD4 T-cells, was observed.", "At the same time, the expressions of CD105, CD31, and the apoptotic marker of Annexin V were detected through flow cytometry for analyzing the relationship between the expression of cell surface markers and biological behavior.", "However, we found decreased sperm concentration, increase of morphologically abnormal spermatozoa and increased binding of apoptotic marker annexin V. ", "hCG enhanced viability of granulosa-lutein cells through antiapoptosis but not proliferation, because the apoptotic marker of annexin V was decreased, but the proliferative markers of Ki67 and proliferating cell nuclear antigen were not increased.", "However, as the DOTAP concentration increased from 50 to 800 microM, the apoptotic marker Annexin V and ROS double positive cells increased, suggesting that high dose of DOTAP-generated ROS causes cell apoptosis. ", "Expression of the apoptotic marker annexin V was unaffected by antibiotic exposure, whereas the uptake of the necrotic marker PI was increased by ofloxacin (5 mg/mL) but not by netilmicin (ofloxacin versus netilmicin, ANOVA, P<0.05).", "he apoptotic marker of annexin V was decreased", "the apoptotic marker Annexin V", "Annexin V labels apoptotic neurons following hypoxia-ischemia.", "In the present study, the apoptotic cell population was identified immunocytochemically using Annexin V, a marker of cells in an early stage of apoptosis.", "Use of annexin V antibody to identify apoptotic cells during pregnancy.", "Only few SF Treg cells were apoptotic, as indicated by limited annexin V staining of these cells.", "Eosinophils 'aged' in vitro for 48 h exhibited endonuclease DNA degradation, apoptotic morphology, increased red autofluorescence and externalisation of phosphatidylserine (PS) as assessed by binding of FITC-labelled annexin V.", "In vivo detection of apoptotic cells with fluorescently labeled annexin V is an emerging technique that we evaluated for detecting apoptotic germ cells in a mouse model of testicular torsion.Annexin V labeled with an indocyanine fluorophore (bisfunctional succinimidyl ester of cyanine 5.5) (Amersham, Little Chalfont, United Kingdom) was injected intravenously in mice 18 hours after the repair of unilateral 720-degree testicular torsion for 2 hours", "Here, we tested the hypothesis that enhanced endothelial apoptotic microparticles and decreased endothelial progenitor cell (EPC) levels might contribute to the pathophysiology of microalbuminuria or macroalbuminuria in cardiovascular disease.Flow cytometry was used to assess endothelial cell apoptosis and circulating EPC levels by quantification of circulating CD31/annexin V apoptotic microparticles and EPC markers (defined as KDRCD133, CD34CD133, CD34KDR) in peripheral blood.In total, 125 patients with hypertension were enrolled in the study, of whom 80 patients (64%) were with normoalbuminuria (albumin excretion rate of &lt;20 microg/min, overnight urine samples), 35 patients (28%) with microalbuminuria (an albumin excretion rate of 20-200 microg/min), and 10 patients (8%) with macroalbuminuria (an albumin excretion rate >200 microg/min).", "Surfactant protein A (SP-A) binds to phosphatidylserine and competes with annexin V binding on late apoptotic cells", "Targeting of apoptotic macrophages and experimental atheroma with radiolabeled annexin V: a technique with potential for noninvasive imaging of vulnerable plaque", "Because annexin V has a high affinity for exposed phosphatidylserine on apoptotic cells, radiolabeled annexin V may be used for noninvasive detection of apoptosis in atherosclerotic lesions.Atherosclerotic plaques were produced in 5 rabbits by deendothelialization of the infradiaphragmatic aorta followed by 12 weeks of cholesterol diet; 5 controls were studied without manipulation", "Apoptotic abscess imaging with 99mTc-HYNIC-rh-Annexin-V.", "Synthesis and evaluation of a 18F-labelled recombinant annexin-V derivative, for identification and quantification of apoptotic cells with PET.", "Sensitive and visible detection of apoptotic cells on Annexin-V modified substrate using aminophenylboronic acid modified gold nanoparticles (APBA-GNPs) labeling.", "Fluorescence-activated cell sorting (FACS) for expression of the early apoptosis marker Annexin V and for nuclear staining by 7-aminoactinomycin (7-AAD) revealed different extents of apoptosis versus non-apoptotic cell death for the three agents.", "At immunofluorescence these cells contained lipid vesicles positive for the apoptotic cell marker Annexin V suggesting the phagocytosis of apoptotic bodies derived from dead fat-laden hepatocytes.", "In this respect, we identified binding of Annexin V as an convenient marker for apoptotic cells.", "DR5 expression was elevated and associated with the apoptotic marker annexin V. Apoptosis was reduced in CD4(+) T cells when cultured with anti-DR5 antibody.", "Flow cytometric analysis using the apoptotic marker, Annexin V, shows that this endogenous re-expression is sufficient to drive the SCLC cells to apoptosis.", "Apoptotic cell death was evaluated by staining nuclei with propidium iodide and phosphatidylserine (a marker of early apoptotic events) with Annexin V as well as by DNA fragmentation assay.", "Decreased cell growth was not caused by cell death as BEL exposure did not alter nuclear morphology or increase annexin V (apoptotic cell marker) or propidium iodide (necrotic cell marker) staining after 48 h.", "Four populations of cells can be identified: region R1: vital cells (annexin V negative/PI negative), region R2: apoptotic cells (annexin V positive/PI negative), region R3: dead cells (annexin V positive/ PI positive); and region R4: damaged cells (annexin V negative/PI positive).", "Furthermore, uptake of (111)In-DTPA-PEG-annexin V by tumors correlated with apoptotic index (r = 0.87, P = 0.02).", "Annexin V(+)/PI(-) cells were characterized as early apoptotic, Annexin V(+)/PI(+) as late apoptotic and Annexin V(-)/PI(+) as dead.", "Targeting ability of Annexin V for apoptotic macrophages was kept and enhanced.", "[18F]annexin V accumulated in the infarct area of the left ventricle, where apoptotic cells were observed.", "The viability of SiHa cells was evaluated using the MTT assay, apoptosis by acridine orange/ethidium bromide, propidium iodide, TUNEL assay, and Annexin V-Cy3, cell cycle distribution and mitochondrial transmembrane potential using flow cytometry, and apoptotic marker genes using quantitative real-time PCR. ", "Furthermore, hesperetin-induced apoptosis was confirmed by TUNEL and Annexin V-Cy3.", "The procedure delivers two sperm fractions: annexin V-negative (nonapoptotic) and annexin V-positive (apoptotic).", "The percentage of cells stained with annexin V, an early apoptotic marker, increased dramatically after cytoskeletal disruption with cytochalasin D compared with non-cytochalasin-D-treated controls (P<0.05). ", "Apoptotic marker Annexin V analysis showed that the apoptotic rate of NB4 cells was increased after treatment with quercetin.", "The cytomorphology of NB4 cells was assessed by Wright-stain, apoptosis rate by apoptotic marker Annexin V, and VEGF secretion level by ELISA.", " We have coupled annexin V with the bifunctional hydrazinonicotinamide reagent (HYNIC) to prepare technetium-99m HYNIC-annexin V and demonstrated localization of radioactivity in tissues undergoing apoptosis in vivo.", "In conlusion, these studies confirm the value of (99m)Tc-HYNIC-annexin V uptake as a marker for the detection and quantification of apoptotic cells in vivo.", "The application of Annexin V labeling at electron microscopy will allow a more refined description of the morphological events occurring during apoptosis.", "Apoptotic cells were identified by Annexin V-FITC/PI staining. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24412631", "http://www.ncbi.nlm.nih.gov/pubmed/16046522", "http://www.ncbi.nlm.nih.gov/pubmed/23000925", "http://www.ncbi.nlm.nih.gov/pubmed/20122665", "http://www.ncbi.nlm.nih.gov/pubmed/26582221", "http://www.ncbi.nlm.nih.gov/pubmed/27619241", "http://www.ncbi.nlm.nih.gov/pubmed/9776585", "http://www.ncbi.nlm.nih.gov/pubmed/26734508", "http://www.ncbi.nlm.nih.gov/pubmed/24021657", "http://www.ncbi.nlm.nih.gov/pubmed/7812008", "http://www.ncbi.nlm.nih.gov/pubmed/16740972", "http://www.ncbi.nlm.nih.gov/pubmed/20444920", "http://www.ncbi.nlm.nih.gov/pubmed/16331047", "http://www.ncbi.nlm.nih.gov/pubmed/22913657", "http://www.ncbi.nlm.nih.gov/pubmed/9461328", "http://www.ncbi.nlm.nih.gov/pubmed/11585299", "http://www.ncbi.nlm.nih.gov/pubmed/14676140", "http://www.ncbi.nlm.nih.gov/pubmed/25339644", "http://www.ncbi.nlm.nih.gov/pubmed/12573319", "http://www.ncbi.nlm.nih.gov/pubmed/25591763", "http://www.ncbi.nlm.nih.gov/pubmed/26935620", "http://www.ncbi.nlm.nih.gov/pubmed/9359032", "http://www.ncbi.nlm.nih.gov/pubmed/21340828", "http://www.ncbi.nlm.nih.gov/pubmed/25116573", "http://www.ncbi.nlm.nih.gov/pubmed/16737615", "http://www.ncbi.nlm.nih.gov/pubmed/21203987", "http://www.ncbi.nlm.nih.gov/pubmed/22960471", "http://www.ncbi.nlm.nih.gov/pubmed/16253964", "http://www.ncbi.nlm.nih.gov/pubmed/12552341", "http://www.ncbi.nlm.nih.gov/pubmed/14666384", "http://www.ncbi.nlm.nih.gov/pubmed/18441250", "http://www.ncbi.nlm.nih.gov/pubmed/16813956", "http://www.ncbi.nlm.nih.gov/pubmed/20520578", "http://www.ncbi.nlm.nih.gov/pubmed/7622868", "http://www.ncbi.nlm.nih.gov/pubmed/9462458", "http://www.ncbi.nlm.nih.gov/pubmed/14734682", "http://www.ncbi.nlm.nih.gov/pubmed/18554742", "http://www.ncbi.nlm.nih.gov/pubmed/16239600", "http://www.ncbi.nlm.nih.gov/pubmed/11708469", "http://www.ncbi.nlm.nih.gov/pubmed/20430734", "http://www.ncbi.nlm.nih.gov/pubmed/10541822", "http://www.ncbi.nlm.nih.gov/pubmed/16306419", "http://www.ncbi.nlm.nih.gov/pubmed/26112094" ]

[]

[ "http://www.uniprot.org/uniprot/ANXA5_CYNPY", "http://www.uniprot.org/uniprot/ANXA5_MOUSE", "http://www.uniprot.org/uniprot/ANXA5_HUMAN", "http://www.uniprot.org/uniprot/ANXA5_MACFA", "http://www.uniprot.org/uniprot/ANXA5_BOVIN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017304", "http://www.uniprot.org/uniprot/ANXA5_CHICK", "http://www.uniprot.org/uniprot/ANXA5_PANTR", "http://www.uniprot.org/uniprot/ANXA5_RAT" ]

[ "The lipid lowering drugs administered in patients with Coronary Artery Disease (CAD) are:\n1) Statins\n2) Fibrates\n3) Resins\n4) Niacin\n5) Cholesterol absorption-inhibiting drugs." ]

[ "Statins", "Fibrates", "Resins", "Niacin", "Cholesterol absorption-inhibiting drugs" ]

[ "Impact of adding ezetimibe to statin to achieve low-density lipoprotein cholesterol goal (from the Clinical Outcomes Utilizing Revascularization and Aggressive Drug Evaluation [COURAGE] trial).", "After maximizing statin dose, ezetimibe was added to reach the LDL cholesterol goal in 34% of patients (n = 734). ", "Using Cox regression analysis, the most significant factors associated with achieving LDL cholesterol goals were lower baseline LDL cholesterol, average statin dose, and ezetimibe use. In conclusion, after maximizing statin dose, the addition of ezetimibe results in a substantial increase in the percentage of patients who reach LDL cholesterol goal, a key component of optimal medical therapy.", "Comparative study of bezafibrate and pravastatin in patients with coronary artery disease and high levels of remnant lipoprotein.", "Remnant lipoproteinemia is a strong risk factor for cardiovascular (CV) diseases. This study examined which of 2 common lipid-lowering drugs (fibrates and statins) is more effective in patients with remnant lipoproteinemia and if lowering remnant lipoprotein levels can reduce CV risk.", "RLP-C levels at 1 year of treatment were reduced more by bezafibrate than pravastatin (37% and 25% from baseline, respectively). ", "Bezafibrate therapy decreased RLP-C levels to a greater extent than pravastatin and a decrease in RLP-C level may be associated with a reduction in CV events in patients with high RLP-C levels.", "Statins are powerful lipid-lowering drugs, widely used in patients with hyperlipidemia and coronary artery disease. ", "Patients are frequently treated with lipid-lowering drugs such as resins, fibrates, niacin, statins and cholesterol absorption-inhibiting drugs (ezetimibe). ", "This study sought to investigate the effect of daily glucose fluctuation on coronary plaque properties in patients with coronary artery disease (CAD) pre-treated with lipid-lowering therapy.There is growing evidence that glucose fluctuation, as a residual risk apart from dyslipidemia, is an important factor contributing to the development of CAD.This prospective study enrolled 70 consecutive CAD patients who were referred for percutaneous coronary intervention and whose low-density lipoprotein cholesterol level was &lt;120 mg/dl under statin treatment or &lt;100 mg/dl without statins", "To investigate the impact of lipid lowering therapy by different means on skin microvascular function in patients with dysglycaemia and coronary artery disease (CAD).Thirty-six patients were randomized to simvastatin 80 mg daily (S80, n = 19) or ezetimibe 10 mg and simvastatin 10 mg daily (E10/S10, n = 17) for 6 weeks", "Large clinical trials have elucidated that lipid-lowering therapy using statins reduces cardiovascular events in patients with coronary artery disease (CAD)", "The aim of the present study was to investigate whether LLT (lipid-lowering therapy) with statins could attenuate EPC telomere erosion in patients with CAD (coronary artery disease)", "Beneficial effects of pravastatin (+/-colestyramine/niacin) initiated immediately after a coronary event (the randomized Lipid-Coronary Artery Disease [L-CAD] Study)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23074505", "http://www.ncbi.nlm.nih.gov/pubmed/23409830", "http://www.ncbi.nlm.nih.gov/pubmed/15174957", "http://www.ncbi.nlm.nih.gov/pubmed/19801853", "http://www.ncbi.nlm.nih.gov/pubmed/19090788", "http://www.ncbi.nlm.nih.gov/pubmed/23538020", "http://www.ncbi.nlm.nih.gov/pubmed/10987597", "http://www.ncbi.nlm.nih.gov/pubmed/20574136", "http://www.ncbi.nlm.nih.gov/pubmed/10637948", "http://www.ncbi.nlm.nih.gov/pubmed/19563393", "http://www.ncbi.nlm.nih.gov/pubmed/25934512", "http://www.ncbi.nlm.nih.gov/pubmed/15809368", "http://www.ncbi.nlm.nih.gov/pubmed/18674471", "http://www.ncbi.nlm.nih.gov/pubmed/11113401", "http://www.ncbi.nlm.nih.gov/pubmed/11597936", "http://www.ncbi.nlm.nih.gov/pubmed/24527682", "http://www.ncbi.nlm.nih.gov/pubmed/27923158", "http://www.ncbi.nlm.nih.gov/pubmed/18973424", "http://www.ncbi.nlm.nih.gov/pubmed/20671371", "http://www.ncbi.nlm.nih.gov/pubmed/16098846", "http://www.ncbi.nlm.nih.gov/pubmed/25999102", "http://www.ncbi.nlm.nih.gov/pubmed/20124992" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:3393", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003324", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003327" ]

[ "The programmed death-1 (PD-1) pathway negatively regulates T-cell activation and has an important role in regulating antitumor host immunity. Monoclonal antibodies directed against PD-1 or the PD-1 ligand (PD-L1) are used to treat cancer. " ]

[]

[ " The programmed death-1 (PD-1) pathway negatively regulates T-cell activation and has an important role in regulating antitumor host immunity. Monoclonal antibodies directed against PD-1 or the PD-1 ligand (PD-L1) have shown activity in several tumor types with preliminary data suggesting a relationship between PD-L1 expression and response.", "Pembrolizumab is a selective humanized IgG4 kappa monoclonal antibody that inhibits the programmed death-1 (PD-1) receptor, an integral component of immune checkpoint regulation in the tumor microenvironment.", "Checkpoint inhibitors with monoclonal antibodies targeting the CTLA-4 or PD-1 axis have revolutionized treatment in some solid tumors, especially melanoma and lung", "In recent years, the introduction and Federal Drug Administration approval of immune checkpoint inhibitor antibodies has dramatically improved the clinical outcomes for patients with advanced melanoma.", "Nivolumab and pembrolizumab target programmed cell death protein 1 (PD-1) receptors and have proven to be superior to ipilimumab alone. T", "The Next Immune-Checkpoint Inhibitors: PD-1/PD-L1 Blockade in Melanoma", "PD-1 inhibitors are also poised to become standard of care treatment for other cancers, including non-small cell lung cancer, renal cell carcinoma and Hodgkins lymphoma", "PD-1 inhibitors raise survival in NSCLC", "PD-1 inhibitors raise survival in NSCLC.", "PD-1-PD-1 ligand interaction contributes to immunosuppressive microenvironment of Hodgkin lymphoma.", "The development of programmed cell death 1 (PD-1)/PD-1 ligand 1 (PD-L1) checkpoint inhibitors has changed the landscape of non-small-cell lung cancer (NSCLC) therapy, with 2 approvals from the US Food and Drug Administration of PD-1 inhibitors for second-line therapy.", "In this article, we will review the unique biologic features that predispose cHL to PD-1 inhibition, current data regarding the safety and efficacy of PD-1 inhibitors in the treatment of cHL, biomarkers of immune response, ongoing clinical trials with PD-1 inhibitors, as well as areas of uncertainty.", "To determine how PD-1 signaling inhibits T cell proliferation, we used human CD4(+) T cells to examine the effects of PD-1 signaling on the molecular control of the cell cycle.", "PD-1 inhibits T cell proliferation by upregulating p27 and p15 and suppressing Cdc25A.", "The field of immuno-oncology has witnessed unprecedented success in recent years, with several programmed cell death 1 and PD-L1 inhibitors obtaining US FDA registration and breakthrough drug therapy designation in multiple tumor types.", "The use of antibodies against programmed cell death 1 (PD-1), such as nivolumab and pembrolizumab, has dramatically improved the prognosis of patients with advanced melanoma.", " Since 2010, treatment options for metastatic melanoma have been developed including chemotherapies, checkpoint inhibition immunotherapies, e.g., anti‑cytotoxic T‑lymphocyte antigen‑4 (CTLA‑4) and anti‑programmed death‑1 (PD‑1), and molecular-targeted therapies, e.g., BRAF and MEK inhibitors. ", "his strategy may be particularly advantageous for vaccines targeting prostate cancer, a disease for which antitumor vaccines have demonstrated clinical benefit and yet PD-1 pathway inhibitors alone have shown little efficacy to dat", "Manipulation of co-stimulatory or co-inhibitory checkpoint proteins allows for the reversal of tumor-induced T-cell anergy observed in cancer", "Colorectal cancers (CRCs) have been identified as potential targets for immunotherapy with programmed cell death (PD)-1 inhibitors", "Blockading the interaction of programmed death-1 (PD-1) protein with its ligands (PD-Ls, such as PD-L1) was proved to be a pathway for suppressing the development of tumors and other degradations of biological species. Thus, finding PD-1 inhibitors situated at the convergence point of drug discovery", "Anti-programmed cell death receptor-1 (PD-1) antibodies have demonstrated antitumor activity in many cancer entitie", " Emerging agents blocking the programmed cell death 1 (PD-1) pathway show activity in metastatic clear cell renal cell carci", "The effectiveness of a CTLA-targeted antibody in treating melanoma was an impetus for the use of programmed cell death-1 (PD-1) inhibitors in cancer treatmen", " Monoclonal antibodies that target the programmed death-1 (PD-1)/programmed death-ligand 1(PD-L1) pathway have shown antitumour activity in metastatic renal cell carcinoma (mRCC)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27534574", "http://www.ncbi.nlm.nih.gov/pubmed/25682878", "http://www.ncbi.nlm.nih.gov/pubmed/22740686", "http://www.ncbi.nlm.nih.gov/pubmed/26775720", "http://www.ncbi.nlm.nih.gov/pubmed/27936870", "http://www.ncbi.nlm.nih.gov/pubmed/26588948", "http://www.ncbi.nlm.nih.gov/pubmed/26177645", "http://www.ncbi.nlm.nih.gov/pubmed/26581237", "http://www.ncbi.nlm.nih.gov/pubmed/18203952", "http://www.ncbi.nlm.nih.gov/pubmed/26567614", "http://www.ncbi.nlm.nih.gov/pubmed/27310809", "http://www.ncbi.nlm.nih.gov/pubmed/24402925", "http://www.ncbi.nlm.nih.gov/pubmed/27059553", "http://www.ncbi.nlm.nih.gov/pubmed/27063329", "http://www.ncbi.nlm.nih.gov/pubmed/27729774", "http://www.ncbi.nlm.nih.gov/pubmed/23032366", "http://www.ncbi.nlm.nih.gov/pubmed/26598057", "http://www.ncbi.nlm.nih.gov/pubmed/27622603", "http://www.ncbi.nlm.nih.gov/pubmed/25823918", "http://www.ncbi.nlm.nih.gov/pubmed/26477470", "http://www.ncbi.nlm.nih.gov/pubmed/27573048", "http://www.ncbi.nlm.nih.gov/pubmed/26850630", "http://www.ncbi.nlm.nih.gov/pubmed/26041735" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061026", "http://www.uniprot.org/uniprot/PDCD1_MOUSE" ]

[ "Yes, lefty is an inhibitor of nodal." ]

[ "yes" ]

[ "The expression of lefty, an inhibitor of nodal is often reduced in tumor cells.", " Nodal, and an inhibitor, Lefty.", "as well as the expression of Lefty, an inhibitor of nodal signaling,", "he Nodal inhibitor lefty", "The morphogen Nodal was proposed to form a long-range signaling gradient via a reaction-diffusion system, on the basis of differential diffusion rates of Nodal and its antagonist Lefty." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26506307", "http://www.ncbi.nlm.nih.gov/pubmed/25669884", "http://www.ncbi.nlm.nih.gov/pubmed/25672326", "http://www.ncbi.nlm.nih.gov/pubmed/26377939", "http://www.ncbi.nlm.nih.gov/pubmed/25684355" ]

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[ "Over the years, a number of different drugs have been withdrawn for Cardiotoxicity. Drugs like Clobutinol, that induce cardiac arrhythmias by a blockade of the potassium channel coded by the hERG channel, sibutramine for weight loss and Cox2 inhibitors, Rofecoxib and Valdecoxib have been withdrawn from the market." ]

[ "Rofecoxib", "Valdecoxib", "Sibutramine", "Clobutinol", "Sertindole", "aprotinin" ]

[ " rofecoxib was voluntarily removed from the market for increased cardiovascular risk and in April 2005, valdecoxib was also withdrawn, at least in part, due to excess cardiovascular risk.", "A common over-the-counter (OTC) non-opioid antitussive drug, clobutinol, was recently withdrawn from the market due to its potential to induce cardiac arrhythmias by a blockade of the potassium channel coded by the human ether-à-go-go-related gene (hERG).", "n. However, despite this, at the time of writing orlistat (Europe; USA) remains the only drug currently marketed for the treatment of obesity, with sibutramine having recently been withdrawn from sale globally due to the increased incidence of serious, non-fatal cardiovascular events", "Diclofenac has a risk very similar to rofecoxib, which was withdrawn from worldwide markets owing to cardiovascular toxicity.", "Sibutramine was associated with an increase in major adverse cardiovascular events in the Sibutramine Cardiovascular Outcomes (SCOUT) trial and it was withdrawn from the market in 2010", "The safety of the most popular agent, aprotinin, has been challenged, and it was withdrawn from world markets in May 2008 because of concerns that it increased the risk of cardiovascular complications and death.To assess the comparative effects of the anti-fibrinolytic drugs aprotinin, tranexamic acid (TXA), and epsilon aminocaproic acid (EACA) on blood loss during surgery, the need for red blood cell (RBC) transfusion, and adverse events, particularly vascular occlusion, renal dysfunction, and death.We searched: the Cochrane Injuries Groups Specialised Register (July 2010), Cochrane Central Register of Controlled Trials (The Cochrane Library 2010, Issue 3), MEDLINE (Ovid SP) 1950 to July 2010, EMBASE (Ovid SP) 1980 to July 2010.", "The safety of the most popular agent, aprotinin, has been challenged, and it was withdrawn from world markets in May 2008 because of concerns that it increased the risk of cardiovascular complications and death.To assess the comparative effects of the anti-fibrinolytic drugs aprotinin, tranexamic acid (TXA), and epsilon aminocaproic acid (EACA) on blood loss during surgery, the need for red blood cell (RBC) transfusion, and adverse events, particularly vascular occlusion, renal dysfunction, and death.We searched: the Cochrane Injuries Groups Specialised Register (July 2010), Cochrane Central Register of Controlled Trials (The Cochrane Library 2010, Issue 3), MEDLINE (Ovid SP) 1950 to July 2010, EMBASE (Ovid SP) 1980 to July 2010.", "Rofecoxib and valdecoxib have been withdrawn from the market worldwide due to safety concerns (most importantly for cardiovascular adverse events) and lumiracoxib has been withdrawn in many countries due to liver toxicity", "In the SCOUT (Sibutramine Cardiovascular OUTcomes) study, sibutramine increased serious cardiovascular events, such as stroke or myocardial infarction, compared with placebo, and was consequently withdrawn from the market", "Diclofenac has a risk very similar to rofecoxib, which was withdrawn from worldwide markets owing to cardiovascular toxicity. ", "Rofecoxib and valdecoxib have been withdrawn from the market worldwide due to safety concerns (most importantly for cardiovascular adverse events) and lumiracoxib has been withdrawn in many countries due to liver toxicity.", "Sertindole , first withdrawn from the market for cardiovascular safety concerns, is currently available in many countries.", "In the SCOUT (Sibutramine Cardiovascular OUTcomes) study, sibutramine increased serious cardiovascular events, such as stroke or myocardial infarction, compared with placebo, and was consequently withdrawn from the market. The lesson learnt from this is the importance of patient selection, limiting the duration of treatment and stopping treatment in non-responders. Currently, phentermine and amfepramone (diethylpropion) are approved for short-term treatment of obesity (up to 3 months) and orlistat is approved for longer-term treatment; however, the gastrointestinal adverse effects of orlistat may be intolerable for some patients.", "BACKGROUND: Certain non-steroidal anti-inflammatory drugs (NSAIDs) (e.g., rofecoxib [Vioxx]) increase the risk of heart attack and stroke and should be avoided in patients at high risk of cardiovascular events.", "In the SCOUT (Sibutramine Cardiovascular OUTcomes) study, sibutramine increased serious cardiovascular events, such as stroke or myocardial infarction, compared with placebo, and was consequently withdrawn from the market.", "Diclofenac has a risk very similar to rofecoxib, which was withdrawn from worldwide markets owing to cardiovascular toxicity.", " Rofecoxib, a selective cyclo-oxygenase (COX)-2 inhibitor, was a widely marketed drug that was used for relief of pain and inflammation in arthritic conditions. It was withdrawn from the market worldwide in September 2004 because of an increased risk of cardiovascular events. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21265828", "http://www.ncbi.nlm.nih.gov/pubmed/21412876", "http://www.ncbi.nlm.nih.gov/pubmed/26934640", "http://www.ncbi.nlm.nih.gov/pubmed/19034038", "http://www.ncbi.nlm.nih.gov/pubmed/21249650", "http://www.ncbi.nlm.nih.gov/pubmed/25084209", "http://www.ncbi.nlm.nih.gov/pubmed/16255660", "http://www.ncbi.nlm.nih.gov/pubmed/19933959", "http://www.ncbi.nlm.nih.gov/pubmed/25806762", "http://www.ncbi.nlm.nih.gov/pubmed/23424288", "http://www.ncbi.nlm.nih.gov/pubmed/16119973", "http://www.ncbi.nlm.nih.gov/pubmed/21751825", "http://www.ncbi.nlm.nih.gov/pubmed/25114779", "http://www.ncbi.nlm.nih.gov/pubmed/25340915", "http://www.ncbi.nlm.nih.gov/pubmed/18782007" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064420", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000069451" ]

[ "Yes, Migalastat is approved for treatment of Fabry disease. Migalastat is an oral pharmacological chaperone developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking." ]

[ "yes" ]

[ "Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.", "BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as an alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (amenable) forms of α-Gal to facilitate normal lysosomal trafficking.", "CONCLUSIONS: Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations.", "Migalastat (Galafold™)-a small molecule drug developed by Amicus Therapeutics that restores the activity of specific mutant forms of α-galactosidase-has been approved for the treatment of Fabry disease in the EU in patients with amenable mutations.", "This article summarizes the milestones in the development of migalastat leading to this first approval in the EU for the long-term treatment of adults and adolescents aged ≥16 years with a confirmed diagnosis of Fabry disease.", "Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.", "BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes.", "Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.", "UNLABELLED: Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. ", "Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.", "migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g.", "A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.", "Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder", "Migalastat HCl is an investigational, oral treatment for Fabry disease, an X-linked lysosomal storage disorder", "Oral administration of migalastat HCl reduces tissue GL-3 in Fabry transgenic mice, and in urine and kidneys of some FD patients. ", "Migalastat HCl is an investigational, oral treatment for Fabry disease, an X-linked lysosomal storage disorder.", "Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder.", "Molecular chaperones (e.g. migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g. eliglustat tartrate for Gaucher disease) are currently under investigation in various clinical trials.<CopyrightInformation>Copyright © 2010 Elsevier Masson SAS.", "Migalastat HCl was well tolerated.Migalastat HCl is a candidate pharmacological chaperone that provides a novel genotype-specific treatment for FD.", "Additionally, these three patients all demonstrated decreases in GL-3 inclusions in kidney peri-tubular capillaries.Migalastat HCl is a candidate oral pharmacological chaperone that provides a potential novel genotype-specific treatment for FD.", "migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g. eliglustat tartrate for Gaucher disease) are currently under investigation in various clinical trials.", "Molecular chaperones (e.g. migalastat for Fabry disease) and inhibitors of glucosylceramide synthesis (e.g. eliglustat tartrate for Gaucher disease) are currently under investigation in various clinical trials.", "Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.", "The GLP HEK assay is a clinically validated method of identifying male and female Fabry patients for treatment with migalastat.Genet Med advance online publication 22 September 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.122..", "A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.", "Migalastat offers promise as a first-in-class oral monotherapy alternative treatment to intravenous ERT for patients with Fabry disease and amenable mutations." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27834756", "http://www.ncbi.nlm.nih.gov/pubmed/27351440", "http://www.ncbi.nlm.nih.gov/pubmed/27657681", "http://www.ncbi.nlm.nih.gov/pubmed/23474038", "http://www.ncbi.nlm.nih.gov/pubmed/19387866", "http://www.ncbi.nlm.nih.gov/pubmed/24189976", "http://www.ncbi.nlm.nih.gov/pubmed/23176611", "http://www.ncbi.nlm.nih.gov/pubmed/21211680", "http://www.ncbi.nlm.nih.gov/pubmed/21598360", "http://www.ncbi.nlm.nih.gov/pubmed/27509102", "http://www.ncbi.nlm.nih.gov/pubmed/23472096", "http://www.ncbi.nlm.nih.gov/pubmed/27121667", "http://www.ncbi.nlm.nih.gov/pubmed/26252393", "http://www.ncbi.nlm.nih.gov/pubmed/21517827" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:14499", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000795" ]

[ "Paneth cells are located in the intestinal crypt base columnar cells (CBCCs)." ]

[ "in the intestinal crypt base columnar cells" ]

[ "The intestinal stem cell niche comprises both epithelial cells, in particular the Paneth cell, ", "Paneth cells have been reported in colorectal adenomas and adenocarcinomas;", " injury to Paneth cells (PCs) in the intestinal crypts", "resence of Paneth cells at the bottom of the crypts of Lieberkühn.", "Paneth cells at the crypt base ", " Paneth cells (crypt base columnar cells (CBCCs))" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21122555", "http://www.ncbi.nlm.nih.gov/pubmed/19397593", "http://www.ncbi.nlm.nih.gov/pubmed/23006982", "http://www.ncbi.nlm.nih.gov/pubmed/24439803", "http://www.ncbi.nlm.nih.gov/pubmed/23232853", "http://www.ncbi.nlm.nih.gov/pubmed/19788585" ]

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[ "Aseptic meningitis is the most common type of meningitis and is characterized by meningeal inflammation that is not linked to identifiable bacterial pathogens in cerebrospinal fluid (CSF). It can be originated from infection from:\n1) Varicella-zoster virus (VZV)\n2) Herpes simplex types I and II (HSV-1, HSV-2)\n3) Epstein-Barr virus (EBV) \n4) Cytomegalovirus (CMV) \n5) Enteroviruses (EV) \n6) Parechoviruses (HPeV) \n7) Human rhinoviruses (HRVs) \n8) Echovirus types 6, 9, 11\n9) West Nile Virus (WNV)" ]

[ "Varicella-zoster virus", "VZV", "Herpes simplex types I and II", "HSV-1", "HSV-2", "Epstein-Barr virus", "EBV", "Cytomegalovirus", "CMV", "Enteroviruses", "EV", "Parechoviruses", "HPeV", "Human rhinoviruses", "HRVs", "Echovirus types 6, 9, 11", "West Nile Virus", "WNV" ]

[ "Aseptic meningitis is the most common type of meningitis and is characterized by meningeal inflammation that is not linked to identifiable bacterial pathogens in cerebrospinal fluid (CSF).", "The results indicate a considerable rate of herpesvirus infection in patients with aseptic meningitis, and that VZV is the most common herpesvirus to cause infection followed by HSV-1. ", "Detection of herpes viruses in the cerebrospinal fluid of adults with suspected viral meningitis in Malawi.", "Of these, 59 (32 %) had proven meningitis (bacterial, tuberculous or cryptococcal), 39 (21 %) had normal CSF and 14 (8 %) had aseptic meningitis. For the latter group, a herpes virus was detected in 9 (64 %): 7 (50 %) had EBV and 2 (14 %) had CMV, all were human immunodeficiency virus (HIV)-positive. ", "Results confirm that EV-specific RT-PCR can detect HRVs, and at a practical level, identify potential problems of interpretation if fecal samples are used for surrogate screening in cases of suspected viral meningitis. ", "Human rhinoviruses (HRVs) can be divided into three species; HRV-A to HRV-C.", "Enteroviruses (EV) and parechoviruses (HPeV) are the most common causes of aseptic meningitis, encephalitis and sepsis-like syndrome in neonates.", "Serous meningitis associated with primary genital herpes infection", "Aseptic meningitis is not an uncommon complication to primary genital herpes infection caused by herpes simplex virus type 2 (HSV-2). Compared with other types of viral meningitis, HSV-2-meningitis is associated with a significant rate of neurological complications in the acute stage. In addition, some patients will suffer from recurrent aseptic meningitis (Mollaret's meningitis) later. We describe six patients, five women and one man, age 26-35 years, with aseptic meningitis caused by HSV-2.", "Viral meningitis due to echovirus types 6 and 9: epidemiological data from Western Australia.", "During the autumn of 1992, Western Australia experienced a large viral meningitis outbreak of dual aetiology. ", "Echovirus 9 caused 41% of cases and occurred mainly in the metropolitan areas of Western Australia whereas echovirus 6, which caused 37% of cases, was more widespread. ", "Sensitive virologic evaluation in suspected meningitis: study of a radioimmunotest for the detection of IgM antibodies against ECHO 9 and ECHO 11 viruses", "The majority of viral meningitis cases is known to be due to ECHO virus infections on one hand, and mumps on the other. ", "The West Nile Virus (WNV) is a Flavivirus which is transmitted to man by means of different species of mosquitoes and causes outbreaks and sporadic cases of illness in different regions of the Old World, including the Mediterranean Basin.", "Bearing in mind the high percentage of neurological complications found to exist in the most recent outbreaks of WNV infections recorded in the Mediterranean Basin (Bucharest, Algeria), it can be thought that the WNV plays some role in the factors contributing to viral meningitis and encephalitis which occur within the population of the areas at risk within Spain.", "This study aimed to evaluate the frequency of aseptic meningitis caused by herpesviruses, namely herpes simplex types I and II (HSV-1, HSV-2), Epstein-Barr virus (EBV), cytomegalovirus (CMV) and varicella-zoster virus (VZV).", "We compared data obtained from patients with mumps meningitis and patients with aseptic meningitis caused by other viruses in order to identify mumps meningitis-specific cytokine/chemokine alterations in cerebrospinal fluid (CSF).METHODS:   We elucidated the cytokine/chemokine network based on the cytokine/chemokine profiles in CSF from children with mumps meningitis and meningitis due to other viral infections using multiplex cytokine measurement.", "SPORADIC OCCURRENCE OF ECHO VIRUS TYPES 27 AND 31 ASSOCIATED WITH ASEPTIC MENINGITIS IN ONTARIO.", "Seventeen cytokines/chemokines, namely interleukin (IL)-1â, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p70), IL-13, IL-17, interferon (IFN)-ã, tumor necrosis factor (TNF)-á, granulocyte colony-stimulating factor (G-CSF), granulocyte monocyte colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1) and macrophage inflammatory protein-1â (MIP-1â), were measured simultaneously in CSF supernatants from eight children with mumps meningitis, 11 children with other types of viral meningitis and eight children with fever without neurological complications such as convulsion.RESULTS:   We found that IL-8, IL-10, IL-12, IL-13 and IFN-ã showed a statistically significant increase in CSF from mumps meningitis when compared to other types of viral meningitis and fever without neurological complications.CONCLUSION:   Mumps meningitis may induce a distinct immunological response when compared with other types of viral meningitis.", "We found that IL-8, IL-10, IL-12, IL-13 and IFN-γ showed a statistically significant increase in CSF from mumps meningitis when compared to other types of viral meningitis and fever without neurological complications", "Mumps meningitis may induce a distinct immunological response when compared with other types of viral meningitis.<CopyrightInformation>© 2011 The Authors.Pediatrics International © 2011 Japan Pediatric Society.</", "[Adult cases of viral meningitis caused by echovirus type 13].", "[Epidemic outbreak of viral meningitis caused by type 30 ECHO virus].", "[Outbreak of viral meningitis caused by echovirus type 4 in Misiones province].", "Compared with other types of viral meningitis, HSV-2-meningitis is associated with a significant rate of neurological complications in the acute stage.", "Seventeen cytokines/chemokines, namely interleukin (IL)-1β, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p70), IL-13, IL-17, interferon (IFN)-γ, tumor necrosis factor (TNF)-α, granulocyte colony-stimulating factor (G-CSF), granulocyte monocyte colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1) and macrophage inflammatory protein-1β (MIP-1β), were measured simultaneously in CSF supernatants from eight children with mumps meningitis, 11 children with other types of viral meningitis a", "We found that IL-8, IL-10, IL-12, IL-13 and IFN-γ showed a statistically significant increase in CSF from mumps meningitis when compared to other types of viral meningitis and fever without neurological complications.", "Mumps meningitis may induce a distinct immunological response when compared with other types of viral meningitis.<CopyrightInformation>© 2011 The Authors.Pediatrics International © 2011 Japan Pediatric Society.</C", "BACKGROUND:   The mumps virus is frequently the causative agent in aseptic meningitis and mumps has still prevailed in Japan. We compared data obtained from patients with mumps meningitis and patients with aseptic meningitis caused by other viruses in order to identify mumps meningitis-specific cytokine/chemokine alterations in cerebrospinal fluid (CSF).METHODS:   We elucidated the cytokine/chemokine network based on the cytokine/chemokine profiles in CSF from children with mumps meningitis and meningitis due to other viral infections using multiplex cytokine measurement.", "BACKGROUND:   The mumps virus is frequently the causative agent in aseptic meningitis and mumps has still prevailed in Japan. We compared data obtained from patients with mumps meningitis and patients with aseptic meningitis caused by other viruses in order to identify mumps meningitis-specific cytokine/chemokine alterations in cerebrospinal fluid (CSF).METHODS:   We elucidated the cytokine/chemokine network based on the cytokine/chemokine profiles in CSF from children with mumps meningitis and meningitis due to other viral infections using multiplex cytokine measurement. Seventeen cytokines/chemokines, namely interleukin (IL)-1â, IL-2, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p70), IL-13, IL-17, interferon (IFN)-ã, tumor necrosis factor (TNF)-á, granulocyte colony-stimulating factor (G-CSF), granulocyte monocyte colony-stimulating factor (GM-CSF), monocyte chemoattractant protein-1 (MCP-1) and macrophage inflammatory protein-1â (MIP-1â), were measured simultaneously in CSF supernatants from eight children with mumps meningitis, 11 children with other types of viral meningitis and eight children with fever without neurological complications such as convulsion.RESULTS:   We found that IL-8, IL-10, IL-12, IL-13 and IFN-ã showed a statistically significant increase in CSF from mumps meningitis when compared to other types of viral meningitis and fever without neurological complications.CONCLUSION:   Mumps meningitis may induce a distinct immunological response when compared with other types of viral meningitis.", "[Adult cases of viral meningitis caused by echovirus type 13].", "  Mumps meningitis may induce a distinct immunological response when compared with other types of viral meningitis..", "A hospitalization with viral meningitis was defined as any discharge with diagnoses of mumps meningitis (B26.1), enteroviral meningitis (A85.0), tick-born encephalitis (A84.1) and viral undifferentiated meningitis (A87.9) due to ICD-10.", "Molecular typing of enteroviruses associated with viral meningitis in Cyprus, 2000-2002." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16909784", "http://www.ncbi.nlm.nih.gov/pubmed/22246843", "http://www.ncbi.nlm.nih.gov/pubmed/25042344", "http://www.ncbi.nlm.nih.gov/pubmed/26568804", "http://www.ncbi.nlm.nih.gov/pubmed/22798048", "http://www.ncbi.nlm.nih.gov/pubmed/8972676", "http://www.ncbi.nlm.nih.gov/pubmed/14226105", "http://www.ncbi.nlm.nih.gov/pubmed/21501303", "http://www.ncbi.nlm.nih.gov/pubmed/18680414", "http://www.ncbi.nlm.nih.gov/pubmed/18354820", "http://www.ncbi.nlm.nih.gov/pubmed/6612271", "http://www.ncbi.nlm.nih.gov/pubmed/9810831", "http://www.ncbi.nlm.nih.gov/pubmed/18669052", "http://www.ncbi.nlm.nih.gov/pubmed/21412795", "http://www.ncbi.nlm.nih.gov/pubmed/16849723", "http://www.ncbi.nlm.nih.gov/pubmed/1418647", "http://www.ncbi.nlm.nih.gov/pubmed/14503358", "http://www.ncbi.nlm.nih.gov/pubmed/9265274", "http://www.ncbi.nlm.nih.gov/pubmed/25975649", "http://www.ncbi.nlm.nih.gov/pubmed/25983131", "http://www.ncbi.nlm.nih.gov/pubmed/15927848", "http://www.ncbi.nlm.nih.gov/pubmed/25562123", "http://www.ncbi.nlm.nih.gov/pubmed/24313836", "http://www.ncbi.nlm.nih.gov/pubmed/26334674", "http://www.ncbi.nlm.nih.gov/pubmed/18565120" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008581", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008582", "http://www.disease-ontology.org/api/metadata/DOID:10310", "http://www.disease-ontology.org/api/metadata/DOID:12157", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008587" ]

[ "There are a number of classes of medications tha are used to treat Type 2 diabetes. These include biguanides like metformin, which decreased hepatic glucose release; sulfonyureas like Glimepride, metglitinides like repaglin and d-phenylalanine derivatives, all of which stimulate pancreatic insulin release; Glitizones or thiazolidinediones which make the body more sensitive to insulin; DPP-4 inhibitors which lower the amount of glucose made in the body; alpha-glucosidase inhibitors which slow the absorbtion of carbohydrate in the blood; and bile acid sequestrants that lower blood glucose" ]

[ "Biguanides", "Sulfonylureas", "Meglitinides", "D-Phenylalanine Derivatives", "glitazones", "DPP-4 Inhibitors", "Alpha-glucosidase inhibitors", "bile acid sequestrants" ]

[ " achieved by selectively inhibiting sodium-glucose co-transporter 2 (SGLT2).", "After a decade-long effort to improve the pharmacokinetics of GLP1, a number of GLP1 analogues are currently available on the market", " short-acting glucagon-like peptide-1 receptor agonists exenatide and lixisenatide. ", " Sulphonylurea (SU) drugs have a history stretching back over 60 years, and have traditionally been the mainstay choice as second-line agents to be added to metformin once glycaemic control with metformin monotherapy deteriorates;", "In 2013, sulfonylureas were the most common second-line treatment after metformin i", "this position was taken by DPP-4 inhibitors", "[Studies on resorption of orally administered antibiotics and chemotherapeutic agents in children and its modification.", "The drugs used to treat diabetes mellitus are diverse and include several classes.", "Many of the therapeutic agents used to treat diabetes mellitus have the ability to lower blood glucose to dangerous concentrations; these include the sulfonylurea, meglitinide, and thiazolidinedione drug classes.", "The most common therapeutic classes of drugs used in all participating regions, in the previous week, were cardiovascular, gastrointestinal, metabolic (including drugs to treat diabetes) and nervous system.", "Use of oral antidiabetic agents, by drug class, did not differ significantly by race/ethnicity (p = 0.33 for TZDs, p = 0.43 for metformin, p = 0.38 for sulfonylureas). ", "The use of these drugs was also common among insulin treated diabetics but did not differ significantly from among non-diabetics. ", "Drug use among those treated with insulin and those treated orally was substantially higher than among non-diabetics while the difference between diabetics on dietary regimen and non-diabetics was much smaller. ", "UNLABELLED: The aims of the study were to evaluate differences in dietary, oral hygiene habits and social class in children with Type I diabetes mellitus (DM), compared to non-diabetics, and to investigate relationship between selected caries-risk factors and caries experience in diabetics. ", "Vildagliptin is a potent and selective inhibitor of dipeptidyl peptidase-IV (DPP-4), orally active, that improves glycemic control in patients with type 2 diabetes (T2DM) primarily by enhancing pancreatic (alpha and beta) islet function.", "The literature covered includes original studies and meta-analyses identified in PubMed, recent abstracts presented at major diabetes scientific conferences, and clinical trials registered at ClinicalTrials.gov.Although there are some differences in the pharmacokinetic and pharmacodynamic profiles of the different DPP-4 inhibitors, all are small orally active compounds with broadly similar HbA1c-lowering efficacy.", "The authors conclude that rosiglitazone can be safely administered with metformin and, due to the different mechanisms of action of these agents, may offer a therapeutic advantage in patients with type 2 diabetes mellitus.", "There are different classes of anti-diabetic drugs reported to treat diabetes.", "There are now four different classes of oral medications which are available to treat diabetes-sulfonylureas, biguanides, thiazolidinediones, and alpha-glucosidase inhibitors.", "During followup, incident treated diabetes was defined as a self-report of a new physician diagnosis of diabetes treated with insulin or oral drugs.", "This systematic review will compare adherence and persistence rates across the different classes of medication available to people with type 2 diabetes.", "Five classes of oral hypoglycaemic drugs and two trace minerals used to treat diabetes mellitus in humans are reviewed and current knowledge on the use of these drugs in diabetic dogs and cats is presented.", "Sulfonylureas, biguanides, alpha-glucosidase, meglitinides, DPP-4 inhibitors and thiazolidinediones are among the classes of oral hypoglycemic drugs available to treat Type II diabetes, but concerns exist regarding safety and efficacy of these drugs.", "Currently, four classes of orally administered antidiabetic agents are available for use in patients with type 2 diabetes: insulin secretagogues, biguanides, a-glucosidase inhibitors, and thiazolidinediones." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12766122", "http://www.ncbi.nlm.nih.gov/pubmed/26932742", "http://www.ncbi.nlm.nih.gov/pubmed/26158794", "http://www.ncbi.nlm.nih.gov/pubmed/9540451", "http://www.ncbi.nlm.nih.gov/pubmed/11075314", "http://www.ncbi.nlm.nih.gov/pubmed/26787264", "http://www.ncbi.nlm.nih.gov/pubmed/18840004", "http://www.ncbi.nlm.nih.gov/pubmed/26928029", "http://www.ncbi.nlm.nih.gov/pubmed/15296954", "http://www.ncbi.nlm.nih.gov/pubmed/11105786", "http://www.ncbi.nlm.nih.gov/pubmed/23671395", "http://www.ncbi.nlm.nih.gov/pubmed/23522121", "http://www.ncbi.nlm.nih.gov/pubmed/16236069", "http://www.ncbi.nlm.nih.gov/pubmed/18220763", "http://www.ncbi.nlm.nih.gov/pubmed/24160357", "http://www.ncbi.nlm.nih.gov/pubmed/27038028", "http://www.ncbi.nlm.nih.gov/pubmed/26597596", "http://www.ncbi.nlm.nih.gov/pubmed/18559413", "http://www.ncbi.nlm.nih.gov/pubmed/11592575", "http://www.ncbi.nlm.nih.gov/pubmed/23919507", "http://www.ncbi.nlm.nih.gov/pubmed/3298298", "http://www.ncbi.nlm.nih.gov/pubmed/26890317", "http://www.ncbi.nlm.nih.gov/pubmed/26551045", "http://www.ncbi.nlm.nih.gov/pubmed/25805649", "http://www.ncbi.nlm.nih.gov/pubmed/17206165", "http://www.ncbi.nlm.nih.gov/pubmed/18316956", "http://www.ncbi.nlm.nih.gov/pubmed/7110736", "http://www.ncbi.nlm.nih.gov/pubmed/10321452", "http://www.ncbi.nlm.nih.gov/pubmed/17355730", "http://www.ncbi.nlm.nih.gov/pubmed/22767115", "http://www.ncbi.nlm.nih.gov/pubmed/18827867", "http://www.ncbi.nlm.nih.gov/pubmed/26587691", "http://www.ncbi.nlm.nih.gov/pubmed/18078018", "http://www.ncbi.nlm.nih.gov/pubmed/25648671", "http://www.ncbi.nlm.nih.gov/pubmed/15251678", "http://www.ncbi.nlm.nih.gov/pubmed/16254468" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016640", "http://www.disease-ontology.org/api/metadata/DOID:11714", "http://www.disease-ontology.org/api/metadata/DOID:0050524", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D048909", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003922", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003921", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020790" ]

[ "PeakXus and Q-nexus enable comprehensive transcription factor binding site discovery from ChIP-nexus experiments." ]

[ "PeakXus", "Q-nexus" ]

[ "PeakXus: comprehensive transcription factor binding site discovery from ChIP-Nexus and ChIP-Exo experiments.", "We describe a peak caller PeakXus that is specifically designed to leverage the increased resolution of ChIP-exo/Nexus and developed with the aim of making as few assumptions of the data as possible to allow discoveries of novel binding patterns. We apply PeakXus to ChIP-Nexus and ChIP-exo experiments performed both in Homo sapiens and in Drosophila melanogaster cell lines.", "Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus.", "Here, we present a comprehensive software package for ChIP-nexus data that exploits the random barcodes for selective removal of PCR duplicates and for quality control. Furthermore, we developed bespoke methods to estimate the width of the protected region resulting from protein-DNA binding and to infer binding positions from ChIP-nexus data. Finally, we applied our peak calling method as well as the two other methods MACE and MACS2 to the available ChIP-nexus data.", "Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus.", "PeakXus: comprehensive transcription factor binding site discovery from ChIP-Nexus and ChIP-Exo experiments." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27814676", "http://www.ncbi.nlm.nih.gov/pubmed/27587683" ]

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[ "Statins lower high cholesterol", "Statins, which specifically inhibit HMG Co-A reductase, the rate-limiting step of cholesterol biosynthesis, are widely prescribed to reduce serum cholesterol and cardiac risk," ]

[]

[ "Statins are inhibitors of HMG-CoA reductase, the enzyme that catalyzes the reduction of HMG-CoA to mevalonic acid by NADPH", "Statins, which specifically inhibit HMG Co-A reductase, the rate-limiting step of cholesterol biosynthesis, are widely prescribed to reduce serum cholesterol and cardiac risk,", "OBJECTIVES: Statins are a lipid-lowering treatment, prescribed frequently to prevent cardiovascular events.", "The doctors' beliefs about statins' ability to prolong life were associated significantly with their willingness to initiate treatment.CONCLUSION: The overall results imply that doctors have varying and suboptimal understanding of the effect of statins.", "However, the meta-regression analysis indicated that age of study participants modified the association between statin use and cancer risk (P = .003).CONCLUSION: Our findings do not support a protective effect of statins against cancer.", "What is less well known is a phenomenon whereby statins may induce a myopathy, which persists or may progress after stopping the drug.", "Statins can cause a necrotizing myopathy and hyperCKaemia which is reversible on cessation of the drug.", "* Our data do not show any beneficial effect of statins in reducing disease inflammation in RA patients.AIM: To investigate the possible anti-inflammatory effect of statins in a cohort of rheumatoid arthritis (RA) patients.METHODS: We conducted a cohort study consisting of all patients with at least one claim for RA using LifeLink, a health insurance claims database.", "Statins are widely used in kidney transplant patients given their established benefits in the general population, however evidence favouring their use is lacking.To assess the benefits and harms of statin therapy on mortality and renal outcomes in kidney transplant recipients.We searched MEDLINE, EMBASE, the Cochrane Central Register of Controlled Trials (CENTRAL), and hand searched reference lists of articles and scientific proceedings.Randomised controlled trials (RCTs) and quasi-RCTs comparing statins with placebo, no treatment or other statins in kidney transplant recipients.Two authors independently assessed study quality and extracted data", "Thus, it is important to understand whether other signaling pathways that are involved in atherosclerosis could be targets of statins, and if so, whether individuals with \"overactivity\" of these pathways could benefit from statin therapy, regardless of serum cholesterol level.Statins inhibit the synthesis of isoprenoids, which are important for the function of the Rho/Rho-associated coiled-coil containing kinase (ROCK) pathway", "Evidence for statins in people who have had a kidney transplant were sparse and lower quality due to imprecise effect estimates and provided limited systematic evaluation of treatment harm.Statins may reduce cardiovascular events in kidney transplant recipients, although treatment effects are imprecise", "Statins decreased 24-hour urinary protein excretion (6 studies, 311 patients: MD -0.73 g/24 h, 95% CI -0.95 to -0.52), but there was no significant improvement in creatinine clearance - a surrogate marker of renal function (11 studies, 548 patients: MD 1.48 mL/min, 95% CI -2.32 to 5.28).The incidence of rhabdomyolysis, elevated liver enzymes and withdrawal rates due to adverse events (well known complications of statins use), were not significantly different between patients receiving statins and placebo.Statins significantly reduced the risk of all-cause and cardiovascular mortality in CKD patients who are not receiving renal replacement therapy.", "Statins are less cost-effective when obtained at average retail prices, particularly in patients at lower CVD risk.Although statins reduce absolute CVD risk in patients with CKD, the increased risk of rhabdomyolysis, and competing risks associated with progressive CKD, partly offset these gains", "In this review, we debate the relative effect of statins in driving insulin resistance and the impairment of insulin secretion.Narrative overview of the literature synthesizing the findings of literature was retrieved from searches of computerized databases, hand searches, and authoritative texts employing the key words \"Statins\", \"Randomized Clinical Trial\", \"Insulin sensitivity\", \"Insulin resistance\", \"Insulin Secretion\", \"Diabetes Mellitus\" alone and/or in combination.The weight of clinical evidence suggests a worsening effect of statins on insulin resistance and secretion, anyway basic science studies did not find a clear molecular explanation, providing conflicting evidence regarding both the beneficial and the adverse effects of statin therapy on insulin sensitivity.", "This study was undertaken to investigate the immunomodulatory mechanisms of statins that target the IFN response in PDCs.We isolated human blood PDCs by flow cytometry and examined the effects of simvastatin and pitavastatin on PDC activation, IFNalpha production, and intracellular signaling.Statins inhibited IFNalpha production profoundly and tumor necrosis factor alpha production modestly in human PDCs in response to Toll-like receptor ligands", "The earlier JUPITER (Justification for the Use of Statins in Primary Prevention) trial provided appealing evidence that the risk of venous thrombosis may be lowered by statins", "Statins (HMG-CoA reductase inhibitors) decrease postoperative adhesions by increasing peritoneal fibrinolytic activity.", "Statins (HMG-CoA reductase inhibitors) reduce CD40 expression in human vascular cells.", "HMG-CoA reductase inhibitors (statins) activate expression of PPARalpha/PPARgamma and ABCA1 in cultured gallbladder epithelial cells.", "HMG-CoA reductase inhibitors (statins) might cause high elevations of creatine phosphokinase (CK) in patients with unnoticed hypothyroidism.", "HMG-CoA reductase inhibitors (statins) reduce hypertrophic scar formation in a rabbit ear wounding model.", "HMG-CoA reductase inhibitors, statins, induce phosphorylation of Mdm2 and attenuate the p53 response to DNA damage.", "The target for statins, HMG-CoA reductase, is expressed in ductal carcinoma-in situ and may predict patient response to radiotherapy.", "Two meta-analyses have shown statins do not improve survival, whereas two others showed improved cardiac function and reduced inflammation in HF. It appears lipophilic statins produce better survival and other outcome benefits compared to hydrophilic statins.", "Statins are the current basis of lipid-lowering therapy, despite which may have limitations on efficacy and safety. In high risk patients who do not achieve current lipid goals, in those intolerant to statins or those with atherogenic dyslipidemia, it is possible combine two or more lipid lowering drugs, including statins, ezetimibe, bile acid sequestrants, fibrates, niacin and prescription omega-3 fatty acids.", "Statins are the current basis of lipid-lowering therapy, despite which may have limitations on efficacy and safety. In high risk patients who do not achieve current lipid goals, in those intolerant to statins or those with atherogenic dyslipidemia, it is possible combine two or more lipid lowering drugs, including statins, ezetimibe, bile acid sequestrants, fibrates, niacin and prescription omega-3 fatty acids. However, for most of these combination therapies pivotal data on clinical outcomes are still lacking.", "Statins are the current basis of lipid-lowering therapy, despite which may have limitations on efficacy and safety.", "However, the findings of two large RCTs do not support the evidence provided by previous studies and suggest statins lack beneficial effects in HF.", "Subsequently, a number of nonrandomised studies have shown statins improve clinical outcomes in patients with heart failure (HF).", "AND WHAT DOES THE STUDY ADD?: Statins have shown broad spectrum anti-cancer properties in laboratory studies.", "Statin-induced myopathy is an important cause of statin intolerance and the most common cause of statin discontinuation.", "These findings underscore the need to better define the pathophysiology of statin-induced myalgia and develop methodologies to guide treatment of statin-intolerant patients.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21784376", "http://www.ncbi.nlm.nih.gov/pubmed/17245169", "http://www.ncbi.nlm.nih.gov/pubmed/26405105", "http://www.ncbi.nlm.nih.gov/pubmed/17001070", "http://www.ncbi.nlm.nih.gov/pubmed/23629822", "http://www.ncbi.nlm.nih.gov/pubmed/19225884", "http://www.ncbi.nlm.nih.gov/pubmed/27829091", "http://www.ncbi.nlm.nih.gov/pubmed/12921488", "http://www.ncbi.nlm.nih.gov/pubmed/26758951", "http://www.ncbi.nlm.nih.gov/pubmed/23500327", "http://www.ncbi.nlm.nih.gov/pubmed/16723812", "http://www.ncbi.nlm.nih.gov/pubmed/26474612", "http://www.ncbi.nlm.nih.gov/pubmed/15541327", "http://www.ncbi.nlm.nih.gov/pubmed/25208056", "http://www.ncbi.nlm.nih.gov/pubmed/23464862", "http://www.ncbi.nlm.nih.gov/pubmed/17463321", "http://www.ncbi.nlm.nih.gov/pubmed/22129898", "http://www.ncbi.nlm.nih.gov/pubmed/23618535", "http://www.ncbi.nlm.nih.gov/pubmed/22286441", "http://www.ncbi.nlm.nih.gov/pubmed/23880257", "http://www.ncbi.nlm.nih.gov/pubmed/22457675", "http://www.ncbi.nlm.nih.gov/pubmed/24470059", "http://www.ncbi.nlm.nih.gov/pubmed/20078616", "http://www.ncbi.nlm.nih.gov/pubmed/14499877", "http://www.ncbi.nlm.nih.gov/pubmed/20545813", "http://www.ncbi.nlm.nih.gov/pubmed/24777857", "http://www.ncbi.nlm.nih.gov/pubmed/19370615", "http://www.ncbi.nlm.nih.gov/pubmed/17241784", "http://www.ncbi.nlm.nih.gov/pubmed/15625077", "http://www.ncbi.nlm.nih.gov/pubmed/21802861", "http://www.ncbi.nlm.nih.gov/pubmed/21342078", "http://www.ncbi.nlm.nih.gov/pubmed/20506142", "http://www.ncbi.nlm.nih.gov/pubmed/23919640", "http://www.ncbi.nlm.nih.gov/pubmed/19154957", "http://www.ncbi.nlm.nih.gov/pubmed/19370693" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019161", "http://amigo.geneontology.org/amigo/term/GO:0036273" ]

[ "Human enteric α-defensins (HD5 and HD6), major antimicrobial peptides produced by Paneth cells in the intestine, play important roles in intestinal innate immunity." ]

[ "Intestinal Paneth cells secretes alpha-defensin 5" ]

[ "The major tissue in which HD5 is expressed is the crypt of the small intestine, an anaerobic niche that should allow for substantial pools of both oxidized and (partly) reduced HD5. ", "Human α-defensin 5 (HD5) exhibits broad spectrum antimicrobial activity and plays an important role in mucosal immunity of the small intestine.", "Human enteric α-defensins (HD5 and HD6), major antimicrobial peptides produced by Paneth cells in the intestine, play important roles in intestinal innate immunity.", "Human α-defensin 5 (HD5), the most abundant enteric antimicrobial peptide,", "HD5, naturally present at very high concentrations in the mucosa of the small intestine, ", "Human α-defensin 5 (HD5) is an innate immune effector peptide secreted by epithelial cells in the genitourinary tract", "Human α-defensin 5 (HD5) is a 32-residue cysteine-rich host-defense peptide that exhibits broad-spectrum antimicrobial activity and contributes to innate immunity in the human gut and other organ systems. ", "The concentrations of lactoferrin and defensins in preterm breast milk have antimicrobial activity against common neonatal pathogens." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26206286", "http://www.ncbi.nlm.nih.gov/pubmed/25664683", "http://www.ncbi.nlm.nih.gov/pubmed/25643281", "http://www.ncbi.nlm.nih.gov/pubmed/25433720", "http://www.ncbi.nlm.nih.gov/pubmed/25970658", "http://www.ncbi.nlm.nih.gov/pubmed/25540379", "http://www.ncbi.nlm.nih.gov/pubmed/25547793" ]

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[ "The relationship between T2DM and statins is further complicated since these drugs can cause new onset diabetes (NOD) although there is an overall benefit in terms of preventing vascular events.", "Statin use has been associated with increased risk of developing type 2 diabetes (T2DM), and with impaired glycemic control in T2DM patients" ]

[ "yes" ]

[ "Statin use has been associated with increased risk of developing type 2 diabetes (T2DM), and with impaired glycemic control in T2DM patients", "The relationship between T2DM and statins is further complicated since these drugs can cause new onset diabetes (NOD) although there is an overall benefit in terms of preventing vascular events ", "It has been repeatedly reported that statins may cause new-onset diabetes mellitus (DM).", "However, a small, but significant risk of new-onset diabetes has been reported in patients treated with statins.", "The National Lipid Association (NLA) Statin Diabetes Safety Task Force concluded that the cardiovascular benefit of statin therapy outweighs the risk for developing diabetes", "It has been repeatedly reported that statins may cause new-onset diabetes mellitus (DM)", "It has been repeatedly reported that statins may cause new-onset diabetes mellitus (DM). However, limited evidence exists from direct head to head comparisons of statins on whether the risk of DM differs among statins.", "Short-term statin exposure is associated with reduced all-cause mortality in persons with diabetes.", "Despite the fact that higher statin doses are more likely to lead to new-onset diabetes, for every case of diabetes caused, there are approximately three cardiovascular events reduced with high dose versus moderate dose statin therapy.", "It has been repeatedly reported that statins may cause new-onset diabetes mellitus (DM).", " Statins are evidence-based drugs to prevent cardiovascular (CV) disease. However, their benefits have been disputed by a statin-related increased risk of new onset diabetes", " Compared with pravastatin, treatment with higher potency statins, especially atorvastatin and simvastatin, might be associated with an increased risk of new onset diabetes", " statins are associated with a small increase in incidence of diabetes in patients predisposed to glycemic alteration", " Higher potency statin use is associated with a moderate increase in the risk of new onset diabetes compared with lower potency statins in patients treated for secondary prevention of cardiovascular disease", "An increased risk of new onset treated diabetes was found in those treated with statins showing significant duration and dose effect", "Although most of the clinical studies suggest a worsening of insulin resistance and secretion, the cardiovascular benefits of statin therapy outweigh the risk of developing insulin resistance, thus the data suggest the need to treat dyslipidemia and to make patients aware of the possible risk of developing type 2 diabetes or, if they already are diabetic, of worsening their metabolic control", "Statin therapy can slightly increase risk of incident diabetes in subjects with hypercholesterolemia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26806344", "http://www.ncbi.nlm.nih.gov/pubmed/25245638", "http://www.ncbi.nlm.nih.gov/pubmed/24404512", "http://www.ncbi.nlm.nih.gov/pubmed/26597211", "http://www.ncbi.nlm.nih.gov/pubmed/25208056", "http://www.ncbi.nlm.nih.gov/pubmed/22845189", "http://www.ncbi.nlm.nih.gov/pubmed/24373206", "http://www.ncbi.nlm.nih.gov/pubmed/25939296", "http://www.ncbi.nlm.nih.gov/pubmed/24874977", "http://www.ncbi.nlm.nih.gov/pubmed/23704171", "http://www.ncbi.nlm.nih.gov/pubmed/23496027", "http://www.ncbi.nlm.nih.gov/pubmed/25312577", "http://www.ncbi.nlm.nih.gov/pubmed/26437128", "http://www.ncbi.nlm.nih.gov/pubmed/22658337", "http://www.ncbi.nlm.nih.gov/pubmed/26466221", "http://www.ncbi.nlm.nih.gov/pubmed/17496714" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003924" ]

[ "Nocodazole trigger mitotic arrest." ]

[ "Mitotic arrest" ]

[ "antimitotic SAC-inducing agents (i.e., nocodazole", "spindle assembly checkpoint (SAC)", "Cells can also be enriched in mitosis using nocodazole", " escape of metaphase I arrest induced by nocodazole treatment ", " the treatment of CD4+T-cells with nocodazole, which disrupts the microtubular network,", "nocodazole-triggered mitotic arrest." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27177335", "http://www.ncbi.nlm.nih.gov/pubmed/27609478", "http://www.ncbi.nlm.nih.gov/pubmed/27262873", "http://www.ncbi.nlm.nih.gov/pubmed/27815904", "http://www.ncbi.nlm.nih.gov/pubmed/27815897", "http://www.ncbi.nlm.nih.gov/pubmed/27833610" ]

[]

[]

[ "Path2PPI is an R package to identify protein-protein interaction (PPI) networks for fully sequenced organisms for which nearly none PPI are known. Path2PPI predicts PPI networks based on sets of proteins from well-established model organisms, providing an intuitive visualization and usability. It can be used to combine and transfer information of a certain pathway or biological process from several reference organisms to one target organism." ]

[]

[ "Path2PPI: an R package to predict protein-protein interaction networks for a set of proteins", "We introduce Path2PPI, a new R package to identify protein-protein interaction (PPI) networks for fully sequenced organisms for which nearly none PPI are known. Path2PPI predicts PPI networks based on sets of proteins from well-established model organisms, providing an intuitive visualization and usability. It can be used to combine and transfer information of a certain pathway or biological process from several reference organisms to one target organism.", ": We introduce Path2PPI, a new R package to identify protein-protein interaction (PPI) networks for fully sequenced organisms for which nearly none PPI are known.", "Path2PPI predicts PPI networks based on sets of proteins from well-established model organisms, providing an intuitive visualization and usability." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26733452" ]

[]

[]

[ "SPAG5 was implicated in prostate cancer, lung cancer and cervical cancer." ]

[ "prostate cancer", "lung cancer", "cervical cancer", "breast cancer" ]

[ "BACKGROUND: We conducted multiple microarray datasets analyses from clinical and xenograft tumor tissues to search for disease progression-driving oncogenes in prostate cancer (PCa). Sperm-associated antigen 5 (SPAG5) attracted our attention. SPAG5 was recently identified as an oncogene participating in lung cancer and cervical cancer progression.", "CONCLUSION: Our results collectively showed a progression-driving role of SPAG5 in PCa which can be regulated by miR-539, suggesting that miR-539/SPAG5 can serve as a potential therapeutic target for PCa.", "RESULTS: We identified that SPAG5 expression was gradually increased in PCa progression and its level was significantly associated with lymph node metastasis, clinical stage, Gleason score, and biochemical recurrence. Our results indicated that SPAG5 knockdown can drastically inhibit PCa cell proliferation, migration, and invasion in vitro and supress tumor growth and metastasis in vivo. ", "miR-539 inhibits prostate cancer progression by directly targeting SPAG5.", "SPAG5 as a prognostic biomarker and chemotherapy sensitivity predictor in breast cancer: a retrospective, integrated genomic, transcriptomic, and protein analysis.", "Copy number aberration leading to SPAG5 gain or amplification and high SPAG5 transcript and SPAG5 protein concentrations were associated with shorter overall breast cancer-specific survival (METABRIC cohort [copy number aberration]: hazard ratio [HR]1·50, 95% CI 1·18-1·92, p=0·00010; METABRIC cohort [transcript]: 1·68, 1·40-2·01, p<0·0001; and Nottingham-HES-breast cancer cohort [protein]: 1·68, 1·32-2·12, p<0·0001). In multivariable analysis, high SPAG5 transcript and SPAG5 protein expression were associated with reduced breast cancer-specific survival at 10 years compared with lower concentrations (Uppsala: HR 1·62, 95% CI 1·03-2·53, p=0·036; METABRIC: 1·27, 1·02-1·58, p=0·034; untreated lymph node-negative cohort: 2·34, 1·24-4·42, p=0·0090; and Nottingham-HES: 1·73, 1·23-2·46, p=0·0020). In patients with oestrogen receptor-negative breast cancer with high SPAG5 protein expression, anthracycline-based adjuvant chemotherapy increased breast cancer-specific survival overall compared with that for patients who did not receive chemotherapy (Nottingham-oestrogen receptor-negative-ACT cohort: HR 0·37, 95% CI 0·20-0·60, p=0·0010). Multivariable analysis showed high SPAG5 transcript concentrations to be independently associated with longer distant relapse-free survival after receiving taxane plus anthracycline neoadjuvant chemotherapy (MD Anderson-NeoACT: HR 0·68, 95% CI 0·48-0·97, p=0·031). ", "INTERPRETATION: SPAG5 is a novel amplified gene on Ch17q11.2 in breast cancer. The transcript and protein products of SPAG5 are independent prognostic and predictive biomarkers that might have clinical utility as biomarkers for combination cytotoxic chemotherapy sensitivity, especially in oestrogen receptor-negative breast cancer.", "SPAG5 upregulation predicts poor prognosis in cervical cancer patients and alters sensitivity to taxol treatment via the mTOR signaling pathway.", "Previously, we found that sperm-associated antigen 5 (SPAG5) was upregulated in pelvic lymph node metastasis-positive cervical cancer.", "In general, SPAG5 upregulation relates to poor prognosis in cervical cancer patients, and SPAG5 is a regulator of mTOR activity during taxol treatment in cervical cancer.", "RESULTS: We identified novel genes whose expression was upregulated in NSCLC, including SPAG5, POLH, KIF23, and RAD54L, which are associated with mitotic spindle formation, DNA repair, chromosome segregation, and dsDNA break repair, respectively.", "Another module identified among male breast cancers, regulated by SPAG5, was closely associated with proliferation.", "In our study, SPAG5 expression in cervical cancer patients was detected using quantitative real-time polymerase chain reaction, western blotting, and immunohistochemistry; cervical cancer cell function with downregulated SPAG5 in vitro was explored using tetrazolium assay, flow cytometry, and colony formation and Transwell assays. ", "In patients with oestrogen receptor-negative breast cancer with high SPAG5 protein expression, anthracycline-based adjuvant chemotherapy increased breast cancer-specific survival overall compared with that for patients who did not receive chemotherapy (Nottingham-oestrogen receptor-negative-ACT cohort: HR 0·37, 95% CI 0·20-0·60, p=0·0010).", "We investigated the clinicopathological relevance of SPAG5 gene copy number aberrations, mRNA transcript expression, and protein expression and analysed the associations of SPAG5 copy number aberrations, transcript expression, and protein expression with breast cancer-specific survival, disease-free survival, distant relapse-free survival, pathological complete response, and residual cancer burden in the Nottingham discovery cohort, Uppsala cohort, METABRIC cohort, a pooled untreated lymph node-negative cohort (n=684), a multicentre combined cohort (n=5439), the Nottingham historical early stage breast cancer cohort (Nottingham-HES; n=1650), N", "In multivariable analysis, high SPAG5 transcript and SPAG5 protein expression were associated with reduced breast cancer-specific survival at 10 years compared with lower concentrations (Uppsala: HR 1·62, 95% CI 1·03-2·53, p=0·036; METABRIC: 1·27, 1·02-1·58, p=0·034; untreated lymph node-negative cohort: 2·34, 1·24-4·42, p=0·0090; and Nottingham-HES: 1·73, 1·23-2·46, p=0·0020).", "THY1 may thus be a promising novel prognostic marker for male breast cancer. Another module identified among male breast cancers, regulated by SPAG5, was closely associated with proliferation.", "Furthermore, men with THY1 positive breast cancers had significantly inferior survival. THY1 may thus be a promising novel prognostic marker for male breast cancer. Another module identified among male breast cancers, regulated by SPAG5, was closely associated with proliferation.", "SPAG5 was recently identified as an oncogene participating in lung cancer and cervical cancer progression.", "SPAG5 is a novel amplified gene on Ch17q11.2 in breast cancer.", "Copy number aberration leading to SPAG5 gain or amplification and high SPAG5 transcript and SPAG5 protein concentrations were associated with shorter overall breast cancer-specific survival (METABRIC cohort [copy number aberration]: hazard ratio [HR] 1·50, 95% CI 1·18-1·92, p=0·00010; METABRIC cohort [transcript]: 1·68, 1·40-2·01, p<0·0001; and Nottingham-HES-breast cancer cohort [protein]: 1·68, 1·32-2·12, p<0·0001)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24853425", "http://www.ncbi.nlm.nih.gov/pubmed/21412013", "http://www.ncbi.nlm.nih.gov/pubmed/27312051", "http://www.ncbi.nlm.nih.gov/pubmed/27037000", "http://www.ncbi.nlm.nih.gov/pubmed/24194916" ]

[]

[ "http://www.uniprot.org/uniprot/SPAG5_HUMAN", "http://www.uniprot.org/uniprot/SPAG5_MOUSE" ]

[ "While most of the symptoms of zika virus are relatively mild, zika virus in pregnant mothers can cause microcephaly and other congenital defects in the fetus." ]

[]

[ "Maternal-fetal transmission of Zika virus has been documented; evidence suggests that congenital Zika virus infection is associated with microcephaly and other adverse pregnancy and infant outcomes", "Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy.", "While the symptoms associated with Zika virus infection are generally mild, consisting of fever, maculopapular rash, arthralgia and conjunctivitis, there have been reports of more severe reactions that are associated with neurological complications. In pregnant women, fetal neurological complications include brain damage and microcephaly, while in adults there have been several cases of virus-associated Guillain-Barre syndrome.", "ika virus is a flavivirus transmitted primarily by Aedes species mosquitoes, and symptoms of infection can include rash, fever, arthralgia, and conjunctivitis (1).* Zika virus infection during pregnancy is a cause of microcephaly and other severe brain defects (2). Infection has also been associated with Guillain-Barré syndrome", "To better understand the etiologic role and mechanism(s) of Zika virus in causing birth defects such as microcephaly,", "Most persons infected with Zika virus have a mild illness or are asymptomatic. However, increasing evidence supports a link between Zika virus infection during pregnancy and adverse pregnancy and birth outcomes (1), and a possible association between recent Zika virus infection and Guillain-Barré syndrome has been reported (2).", "There is now strong biologic evidence of causality between Zika virus and microcephaly and other neurologic abnormalities identified.", "Several pieces of evidence suggest that maternal Zika virus infection is associated with adverse neonatal outcomes, most notably microcephaly.", " Zika virus has gained international attention due to concerns for infection in pregnant women potentially causing fetal microcephaly.", "Zika virus is a flavivirus transmitted primarily by Aedes aegypti and Aedes albopictus mosquitoes, and infection can be asymptomatic or result in an acute febrile illness with rash (1). Zika virus infection during pregnancy is a cause of microcephaly and other severe birth defects (2). Infection has also been associated with Guillain-Barré syndrome (GBS) (3) and severe thrombocytopenia (4,5)", "Most Zika virus infections are asymptomatic (1,6). Clinical illness, when it occurs, is generally mild and characterized by acute onset of fever, maculopapular rash, arthralgia, or nonpurulent conjunctivitis. However, Zika virus infection during pregnancy can cause adverse outcomes such as fetal loss, and microcephaly and other serious brain anomalies ", "In 2015, Zika virus infection was diagnosed in Brazil where it was associated with microcephaly in the infants of some women who were pregnant when they contracted the disease. Cases of the Guillain-Barré syndrome were also found to be associated with Zika virus", "These findings strengthen the putative association between Zika virus and cases of microcephaly in neonates in Brazil", " In response to the current cluster of congenital malformations (microcephaly) and other neurological complications (Guillain-Barré Syndrome) that could be linked to Zika virus infection, WHO declares that Zika virus is of global public health importance. ", "Zika virus infection during pregnancy can cause spontaneous abortion and birth defects, including microcephaly", "n the case of Zika virus, an accumulating body of recent evidence implicates the virus in the etiology of serious pathologies of the human nervous system, that is, the occurrence of microcephaly in neonates and Guillain-Barré syndrome in adults.", "We describe the first case of Guillain-Barré syndrome (GBS) occurring immediately after a Zika virus infection, during the current Zika and type 1 and 3 dengue fever co-epidemics in French Polynesia.", "We report a case of Zika virus infection in an Australian traveler who returned from Indonesia with fever and rash", "woman who recently traveled to Thailand came to a local emergency department with a fever and papular rash. She was tested for measles, malaria, and dengue. Positive finding for IgM antibody against dengue and a failure to seroconvert for IgG against dengue for multiple blood samples suggested an alternate flavivirus etiology. Amplification of a conserved region of the non-structural protein 5 gene of the genus Flavivirus yielded a polymerase chain reaction product with a matching sequence of 99% identity with Zika virus. A urine sample and a nasopharygeal swab specimen obtained for the measles investigation were also positive for this virus by reverse transcription polymerase chain reactio", " It is estimated that approximately 18% of individuals infected with ZIKV will go on to develop symptoms. When symptoms develop, it is usually within 3-12 days, although this may vary. Most often, symptoms are mild and self-limited. The most common symptoms are fever, arthralgia, maculopapular rash, and conjunctivitis lasting up to seven days. Less frequent symptoms include headache, vertigo, myalgia, vomiting, and diarrhea. At present, there is no vaccine available to prevent ZIKV and no specific antiviral treatment. Supportive care consisting of rest, hydration, analgesics, antihistamines, and antipyretics is recommended as needed. ", "marked increase in infants born with microcephaly in Brazil after a 2015 outbreak of Zika virus (Zika virus) disease suggests an association between maternal Zika virus infection and congenital microcephaly.", "Zika virus causes a self-limiting, systemic illness; however, the current outbreak of Zika virus in the Americas has been associated with increased rates of fetal malformations and Guillain-Barré syndrome" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26897108", "http://www.ncbi.nlm.nih.gov/pubmed/22389730", "http://www.ncbi.nlm.nih.gov/pubmed/27557413", "http://www.ncbi.nlm.nih.gov/pubmed/25294619", "http://www.ncbi.nlm.nih.gov/pubmed/27149205", "http://www.ncbi.nlm.nih.gov/pubmed/27088494", "http://www.ncbi.nlm.nih.gov/pubmed/24626205", "http://www.ncbi.nlm.nih.gov/pubmed/27862959", "http://www.ncbi.nlm.nih.gov/pubmed/27631604", "http://www.ncbi.nlm.nih.gov/pubmed/27010422", "http://www.ncbi.nlm.nih.gov/pubmed/489960", "http://www.ncbi.nlm.nih.gov/pubmed/27654889", "http://www.ncbi.nlm.nih.gov/pubmed/27337505", "http://www.ncbi.nlm.nih.gov/pubmed/27695855", "http://www.ncbi.nlm.nih.gov/pubmed/26969497", "http://www.ncbi.nlm.nih.gov/pubmed/27009036", "http://www.ncbi.nlm.nih.gov/pubmed/27490087", "http://www.ncbi.nlm.nih.gov/pubmed/27464346" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000071243", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000071244", "http://www.disease-ontology.org/api/metadata/DOID:0060478" ]

[ "Oseltamivir (has known by its brand name 'Tamiflu') is a prodrug, requiring ester hydrolysis for conversion to the active form, Oseltamivir carboxylate. Oseltamivir is the first orally active neuraminidase inhibitor and it is an antiviral drug for the treatment of Swine Flu." ]

[]

[ "All patients were given specific antiviral therapy (oseltamivir).", "Oseltamivir (has known by its brand name 'Tamiflu') is a prodrug, requiring ester hydrolysis for conversion to the active form, Oseltamivir carboxylate. Oseltamivir was the first orally active neuraminidase inhibitor commercially developed by US based Gilead Sciences and is currently marketed by F. Hoffmann-La Roche (Roche). Oseltamivir is an antiviral drug which works by blocking the function of the viral neuraminidase protein. US FDA approved Oseltamivir for prophylaxis of uncomplicated influenza A and B. Currently, Oseltamivir is the only first line defense drug available for the treatment of Swine Flu. ", "The latter is the binding cavity for 3 currently used neuraminidase inhibitors: oseltamivir (Tamiflu), zanamivir (Relenza) and peramivir; thus, the drugs should remain effective for treatment. ", "Though therapeutic dose of oseltamivir was given as antiviral treatment for the early therapy, and other therapeutic measures such as energetic respiratory and circulatory support, and immunosuppressant therapy were given", "Oseltamivir (Tamiflu), a neuraminidase inhibitor, is widely used for treatment of influenza.", "Oseltamivir (Tamiflu), a neuraminidase inhibitor, is effective for treating both seasonal flu and H5N1 influenza A virus infection.", "BACKGROUND: Oseltamivir phosphate (OP; Tamiflu) is a prodrug of the anti-influenza neuraminidase inhibitor oseltamivir carboxylate (OC) and has been developed for the treatment and prevention of both A and B strains of influenza.", "Oseltamivir (Tamiflu) is currently the frontline antiviral drug employed to fight the flu virus in infected individuals by inhibiting neuraminidase, a flu protein responsible for the release of newly synthesized virions.", "Oseltamivir (Tamiflu) is the most important antiviral drug available and a cornerstone in the defence against a future influenza pandemic.", "The country where oseltamivir is used most is Japan, where it is used to treat seasonal flu.", "Oseltamivir safety and tolerability were verified in patients with new variant infection A/H1N1.", "To investigate oseltamivir and oseltamivir carboxylate pharmacokinetics in critically ill patients who were receiving continuous venovenous hemodialysis (CVVHD) and/or extracorporeal membrane oxygenation (ECMO).Prospective, open-label, pharmacokinetic study.Intensive care units of an academic medical center.Thirteen critically ill patients aged 13 years or older with suspected or confirmed H1N1 influenza who had a prescription for oseltamivir and were concurrently receiving CVVHD and/or ECMO between October 2009 and January 2010.Oseltamivir 150 mg was administered nasogastrically or nasoenterically every 12 hours", "The study included 3351 patients in whom influenza had been diagnosed by use of an antigen detection test kit.Oseltamivir was administered to 1818 patients with influenza A and 1485 patients with influenza B. No anti-influenza drugs were administered to 21 patients with influenza A or to 27 patients with influenza B. Patients receiving oseltamivir therapy were divided into 4 groups according to the time between the onset of fever (temperature, > or = 37.5 degrees C) and administration of the first dose of oseltamivir (0-12 h, 13-24 h, 25-36 h, and 37-48 h)", "To clarify the usefulness of oseltamivir in the elderly we administered oseltamivir to all residents when an influenza A outbreak occurred in a nursing home.Sixty-eight residents in the nursing home were investigated in which the influenza A outbreak occurred; 32 residents had fever and 28 residents were positive for influenza A with direct enzyme immunoassay.Oseltamivir was administered at 75 mg twice daily for 5 days to all residents.Oseltamivir almost inhibited symptom onset in the influenza A-positive afebrile group", "Oseltamivir was administered to patients with influenza like illness and confirmed influenza, while their close contacts were given oseltamivir prophylactically", "Insights from investigating the interaction of oseltamivir (Tamiflu) with neuraminidase of the 2009 H1N1 swine flu virus.", "Evaluation of treatment with Oseltamivir during the 2009 H1N1 (swine flu) pandemic: the problem of incomplete clinical information.", "Immunological effects of the orally administered neuraminidase inhibitor oseltamivir in influenza virus-infected and uninfected mice.", "Oral oseltamivir improves pulmonary function and reduces exacerbation frequency for influenza-infected children with asthma.", "Oseltamivir (Tamiflu) is a potent and selective antiviral drug employed to fight the flu virus in infected individuals by inhibiting neuraminidase (NA), a flu protein responsible for the release and spread of the progeny virions.", "Oseltamivir is an antiviral drug which works by blocking the function of the viral neuraminidase protein.", "Neuraminidase (NA) inhibitors (Oseltamivir and Zanamivir) are presently used as an anti-flu drugs.", "US FDA approved Oseltamivir for prophylaxis of uncomplicated influenza A and B. Currently, Oseltamivir is the only first line defense drug available for the treatment of Swine Flu.", "Oseltamivir and Zanamivir have good number of interactions with H1N1 2009 virus and the scoring function also support to this result.", "The number of interaction and scoring function shows that Oseltamivir and Zanamivir will be able to effectively control the present pandemic H1N1 virus 2009.", "Oseltamivir (Tamiflu), a neuraminidase inhibitor, is effective for treating both seasonal flu and H5N1 influenza A virus infection. Oseltamivir is generally well tolerated, and its most common adverse effects are nausea and vomiting.", "Oseltamivir (Tamiflu) is currently the frontline antiviral drug employed to fight the flu virus in infected individuals by inhibiting neuraminidase, a flu protein responsible for the release of newly synthesized virions. However, oseltamivir resistance has become a critical problem due to rapid mutation of the flu virus.", "Approximately 1.4% of tested isolates are oseltamivir resistant. We report a patient with an underlying hematological malignancy who was hospitalized with influenza A (H1N1) swine-origin and whose strain developed oseltamivir resistance during therapy.", "Oseltamivir (Tamiflu), a neuraminidase inhibitor, is widely used for treatment of influenza. Because abnormal behaviors have been observed in some Japanese teenagers following oseltamivir use, its safety has been questioned. Oseltamivir is known to alter neuronal function and behavior in animals, particularly when administered in combination with ethanol.", "Oseltamivir (Tamiflu), a neuraminidase inhibitor, is effective for treating both seasonal flu and H5N1 influenza A virus infection. Oseltamivir is generally well tolerated, and its most common adverse effects are nausea and vomiting. However, neuropsychiatric behaviors including jumping and falling from balconies by young patients being treated by oseltamivir have been reported from Japan; this has led to warnings against its prescribing by many authorities.", "However, oseltamivir resistance has become a critical problem due to rapid mutation of the flu virus.", "We observed also 10 infections A/H1N1 influenza during pregnancy, with good oseltamivir tolerance and without recent perinathal complications.CONCLUSIONS: Among 109 individuals with swine flu influenza, 67% have not complicated clinical manifestation and they recovered during 3-4 days.", "The number of interaction and scoring function shows that Oseltamivir and Zanamivir will be able to effectively control the present pandemic H1N1 virus 2009..", "Most reported that oseltamivir was an effective treatment for the flu.", "It is needed to perform surveillance on oseltamivir resistance in swine flu.", "The neuraminidase (NA) of influenza virus is the target of anti-flu drugs oseltamivir and zanamivir.", "According to one trial, oseltamivir was moderately effective as a prophylactic for close contacts of 'flu cases (6.6% in absolute values).", "Oseltamivir: a first line defense against swine flu.", "Oseltamivir administered daily for six weeks by the oral route is safe and effective for the prevention of influenza.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23810646", "http://www.ncbi.nlm.nih.gov/pubmed/23794010", "http://www.ncbi.nlm.nih.gov/pubmed/12058885", "http://www.ncbi.nlm.nih.gov/pubmed/22754968", "http://www.ncbi.nlm.nih.gov/pubmed/19273546", "http://www.ncbi.nlm.nih.gov/pubmed/10708809", "http://www.ncbi.nlm.nih.gov/pubmed/22666678", "http://www.ncbi.nlm.nih.gov/pubmed/27341844", "http://www.ncbi.nlm.nih.gov/pubmed/20843284", "http://www.ncbi.nlm.nih.gov/pubmed/20537158", "http://www.ncbi.nlm.nih.gov/pubmed/19453477", "http://www.ncbi.nlm.nih.gov/pubmed/18457919", "http://www.ncbi.nlm.nih.gov/pubmed/12825569", "http://www.ncbi.nlm.nih.gov/pubmed/23208833", "http://www.ncbi.nlm.nih.gov/pubmed/24825206", "http://www.ncbi.nlm.nih.gov/pubmed/19523442", "http://www.ncbi.nlm.nih.gov/pubmed/21677258", "http://www.ncbi.nlm.nih.gov/pubmed/27490658", "http://www.ncbi.nlm.nih.gov/pubmed/20056566", "http://www.ncbi.nlm.nih.gov/pubmed/16838232", "http://www.ncbi.nlm.nih.gov/pubmed/26049014", "http://www.ncbi.nlm.nih.gov/pubmed/10866439", "http://www.ncbi.nlm.nih.gov/pubmed/19457254", "http://www.ncbi.nlm.nih.gov/pubmed/20218988", "http://www.ncbi.nlm.nih.gov/pubmed/23214216", "http://www.ncbi.nlm.nih.gov/pubmed/15750458", "http://www.ncbi.nlm.nih.gov/pubmed/20635821", "http://www.ncbi.nlm.nih.gov/pubmed/23997307", "http://www.ncbi.nlm.nih.gov/pubmed/19557131", "http://www.ncbi.nlm.nih.gov/pubmed/10536125", "http://www.ncbi.nlm.nih.gov/pubmed/23100798", "http://www.ncbi.nlm.nih.gov/pubmed/16494733", "http://www.ncbi.nlm.nih.gov/pubmed/24366750", "http://www.ncbi.nlm.nih.gov/pubmed/20499654", "http://www.ncbi.nlm.nih.gov/pubmed/24524404", "http://www.ncbi.nlm.nih.gov/pubmed/20885781" ]

[]

[ "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4242246", "http://www.biosemantics.org/jochem#4242246", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053139", "http://www.disease-ontology.org/api/metadata/DOID:8469", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4242585", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007251", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007252" ]

[ "Gamma-secretase is a multisubunit enzyme complex which is consists of four proteins: presenilin 1 (PS1) or presenilin 2 (PS2), nicastrin, Aph-1 and Pen-2." ]

[]

[ "Gamma-secretase is a widely expressed multisubunit enzyme complex which is involved in the pathogenesis of Alzheimer disease and hematopoietic malignancies through its aberrant processing of the amyloid precursor protein (APP) and Notch1, respectively.", "Presenilin (PS1 or PS2) is the catalytic component of the gamma-secretase complex, which mediates the final proteolytic processing step leading to the Alzheimer's disease (AD)-characterizing amyloid beta-peptide. ", "gamma-Secretase is a membrane-embedded multi-protein complex that catalyzes the final cut of the Alzheimer's disease-related amyloid precursor protein (APP) to amyloid-beta peptides of variable length (37-43 amino acids) via an unusual intramembrane cleavage.", "The gamma-secretase complex processes substrate proteins within membranes and consists of four proteins: presenilin (PS), nicastrin, Aph-1 and Pen-2. PS harbours the enzymatic activity of the complex, and there are two mammalian PS homologues: PS1 and PS2. ", "gamma-Secretase is known to contain four major protein constituents: presenilin (PS), nicastrin, Aph-1, and Pen-2, all of which are integral membrane proteins. ", "Here we describe the association of all four components of the gamma-secretase complex, namely presenilin 1 (PS1)-derived fragments, mature nicastrin, APH-1, and PEN-2, with cholesterol-rich detergent insoluble membrane (DIM) domains of non-neuronal cells and neurons that fulfill the criteria of lipid rafts. ", "In contrast, the authentic TMD of NCT is critically required for the interaction with gamma-secretase complex components and for formation of an active gamma-secretase complex.", "Active gamma-secretase is a tetrameric protein complex consisting of presenilin-1 (or -2), nicastrin, PEN-2, and Aph-1a (or -1b).", "The gamma-secretase complex processes substrate proteins within membranes and consists of four proteins: presenilin (PS), nicastrin, Aph-1 and Pen-2.", "Maturation of exogenous NCT, gamma-secretase complex formation and proteolytic function was then investigated.", "gamma-Secretase complexes containing N- and C-terminal fragments of different presenilin origin retain normal gamma-secretase activity.", "Co-overexpression of presenilin-1 or APH-1 abrogated gamma-secretase inhibition probably through prevention of the incorporation of CRB2 into the gamma-secretase complex", "We conclude that a PS1/Pen2/Aph1a trimeric complex is an active enzyme, displaying biochemical properties similar to those of gamma-secretase and roughly 50% of its activity when normalized to PS1 N-terminal fragment levels", "γ-Secretase is involved in the regulated intramembrane proteolysis of amyloid-β protein precursor (AβPP) and of many other important physiological substrates. γ-secretase is a multiproteic complex made of four main core components, namely presenilin 1 or 2, APH-1, PEN-2, and Nicastrin", "Amyloid precursor protein associates with a nicastrin-dependent docking site on the presenilin 1-gamma-secretase complex in cells demonstrated by fluorescence lifetime imaging.", "Activity-dependent isolation of the presenilin- gamma -secretase complex reveals nicastrin and a gamma substrate.", "Characterization of the reconstituted gamma-secretase complex from Sf9 cells co-expressing presenilin 1, nicastrin [correction of nacastrin], aph-1a, and pen-2.", "p53-Dependent Aph-1 and Pen-2 anti-apoptotic phenotype requires the integrity of the gamma-secretase complex but is independent of its activity.", "Here we show that all known gamma-secretase complexes are active in APP processing and that all combinations of APH-1 variants with either FAD mutant PS1 or PS2 support pathogenic Abeta(42) production. ", "To characterize the functional similarity between complexes of various PS composition, we analysed PS1, PS2, and chimeric PS composed of the NTF from PS1 and CTF from PS2, or vice versa, in assembly and function of the gamma-secretase complex.", "While beta-secretase is a classical aspartyl protease, gamma-secretase activity is associated with a high molecular weight complex. One of the complex components, which is critically required for gamma-secretase activity is nicastrin (NCT). Here we investigate the assembly of NCT into the gamma-secretase complex.", "Maturation of exogenous NCT, gamma-secretase complex formation and proteolytic function was then investigated. This revealed that the cytoplasmic tail of NCT is dispensable for gamma-secretase complex assembly and function. In contrast, the authentic TMD of NCT is critically required for the interaction with gamma-secretase complex components and for formation of an active gamma-secretase complex.", "This revealed that the cytoplasmic tail of NCT is dispensable for gamma-secretase complex assembly and function. In contrast, the authentic TMD of NCT is critically required for the interaction with gamma-secretase complex components and for formation of an active gamma-secretase complex.", "While beta-secretase is a classical aspartyl protease, gamma-secretase activity is associated with a high molecular weight complex. One of the complex components, which is critically required for gamma-secretase activity is nicastrin (NCT).", "This revealed that the cytoplasmic tail of NCT is dispensable for gamma-secretase complex assembly and function. In contrast, the authentic TMD of NCT is critically required for the interaction with gamma-secretase complex components and for formation of an active gamma-secretase complex. Neither soluble NCT lacking any membrane anchor nor NCT containing a heterologous TMD were inserted into the gamma-secretase complex.", "In contrast, the authentic TMD of NCT is critically required for the interaction with gamma-secretase complex components and for formation of an active gamma-secretase complex. Neither soluble NCT lacking any membrane anchor nor NCT containing a heterologous TMD were inserted into the gamma-secretase complex.", "Maturation of exogenous NCT, gamma-secretase complex formation and proteolytic function was then investigated. This revealed that the cytoplasmic tail of NCT is dispensable for gamma-secretase complex assembly and function.", "Here we investigate the assembly of NCT into the gamma-secretase complex.", "Co-overexpression of presenilin-1 or APH-1 abrogated gamma-secretase inhibition probably through prevention of the incorporation of CRB2 into the gamma-secretase complex.", "This could be demonstrated also in cell-free assays, where in addition presenilin-1, the catalytic subunit of the gamma-secretase complex, was shifted out of lipid rafts.", "In PS1(-/-)/PS2(-/-) and NCT(-/-) fibroblasts, gamma-secretase components that still remain fail to become detergent-resistant, suggesting that raft association requires gamma-secretase complex assembly." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15591316", "http://www.ncbi.nlm.nih.gov/pubmed/24723404", "http://www.ncbi.nlm.nih.gov/pubmed/24338474", "http://www.ncbi.nlm.nih.gov/pubmed/20299451", "http://www.ncbi.nlm.nih.gov/pubmed/12644463", "http://www.ncbi.nlm.nih.gov/pubmed/27059953", "http://www.ncbi.nlm.nih.gov/pubmed/15766275", "http://www.ncbi.nlm.nih.gov/pubmed/20534834", "http://www.ncbi.nlm.nih.gov/pubmed/18650432", "http://www.ncbi.nlm.nih.gov/pubmed/12821663", "http://www.ncbi.nlm.nih.gov/pubmed/11867728", "http://www.ncbi.nlm.nih.gov/pubmed/12834808", "http://www.ncbi.nlm.nih.gov/pubmed/12684521", "http://www.ncbi.nlm.nih.gov/pubmed/15322084", "http://www.ncbi.nlm.nih.gov/pubmed/20130175", "http://www.ncbi.nlm.nih.gov/pubmed/17560791", "http://www.ncbi.nlm.nih.gov/pubmed/16135086", "http://www.ncbi.nlm.nih.gov/pubmed/16249316", "http://www.ncbi.nlm.nih.gov/pubmed/17276981", "http://www.ncbi.nlm.nih.gov/pubmed/12805296", "http://www.ncbi.nlm.nih.gov/pubmed/16539675", "http://www.ncbi.nlm.nih.gov/pubmed/20178366", "http://www.ncbi.nlm.nih.gov/pubmed/14724271", "http://www.ncbi.nlm.nih.gov/pubmed/14602727", "http://www.ncbi.nlm.nih.gov/pubmed/24413617", "http://www.ncbi.nlm.nih.gov/pubmed/18359496" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:0070765", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053829" ]

[ "During cell division Bora becomes multiply phosphorylated by a variety of cell cycle kinases, including Aurora A and Plk1, and GSK3β and Cdk1 albeit at distinctive sites." ]

[ "Cdk1", "Plk1", "Aurora A", "GSK3β" ]

[ "During cell division Bora becomes multiply phosphorylated by a variety of cell cycle kinases, including Aurora A and Plk1, albeit at distinctive sites.", "Likewise, we find that phosphorylation of Bora by Cdk1 promotes phosphorylation of human Plk1 by Aurora A suggesting that this mechanism is conserved in humans. ", "we show that the master mitotic kinase Cdk1 contributes to Plk1 activation through SPAT-1/Bora phosphorylation", "the potential role of Bora phosphorylation by Cdk1 in this process", "phosphorylation of Bora on the Cdk consensus site T52 blocks Bora degradation.", "Here, we used the LC-MS/MS phosphopeptide mapping assay to identify 13 in vivo hBora phosphorylation sites and characterized that GSK3β can interact with hBora and phosphorylate hBora at Ser274 and Ser278." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27831827", "http://www.ncbi.nlm.nih.gov/pubmed/25803405", "http://www.ncbi.nlm.nih.gov/pubmed/26038951", "http://www.ncbi.nlm.nih.gov/pubmed/24675888", "http://www.ncbi.nlm.nih.gov/pubmed/23442801" ]

[]

[]

[ "Yes. Enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation." ]

[ "yes" ]

[ "Deletions of chromosomal regulatory boundaries are associated with congenital disease.", "Our results suggest that enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation", "Deletions of chromosomal regulatory boundaries are associated with congenital disease", "Deletions of chromosomal regulatory boundaries are associated with congenital disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25315429" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002872", "http://www.disease-ontology.org/api/metadata/DOID:1086", "http://www.disease-ontology.org/api/metadata/DOID:0080014" ]

[ "The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis. SUMO-conjugating enzyme (Ubc9) is the sole conjunction enzyme in the SUMO pathway." ]

[ "SUMO-conjugating enzyme" ]

[ "Among the proteins involved in the sumoylation pathway, Ubc9 is the sole E2-conjugating enzyme required for sumoylation and plays a central role by interacting with almost all of the partners required for sumoylation. ", "We also found a marked rise in levels of Ubc9, the only SUMO conjugation enzyme identified so far. ", "Ubiquitin-conjugating enzyme 9 (Ubc9), the sole conjugating enzyme for sumoylation, regulates protein function and plays an important role in sumoylation-mediated cellular pathways.", "We observed steady-state expression of SUMO1-3, SUMO-conjugated enzyme-UBC9 and deSUMOylating enzymes - SENPs, throughout normal gestation. ", "The small ubiquitin-like modifier (SUMO) pathway in eukaryotes is an essential post-translational modification required for a variety of cellular processes, development and organelle biogenesis. SUMO-conjugating enzyme (Ubc9) is an important conjunction enzyme in the SUMO pathway. ", "Western blot analysis, EMSA, ELISA, confocal microscopy and immunoprecipitation demonstrated that drastic tissue hypoxia, elevated levels of proteins conjugated by small ubiquitin-related modifier-1 (SUMO-1), Ubc9 (the only known conjugating enzyme for the sumoylation pathway) or HIF-1α, augmented sumoylation of HIF-1α, nucleus-bound translocation and enhanced transcriptional activity of HIF-1α in RVLM neurons took place preferentially during the pro-life phase of experimental brain death. ", "Among the proteins involved in the sumoylation pathway, Ubc9 is the sole E2-conjugating enzyme required for sumoylation and plays a central role by interacting with almost all of the partners required for sumoylation.", "UBC9 is the only E2 conjugating enzyme involved in this process, and loss of UBC9 completely abolishes the SUMOylation pathway.", "Here we have identified host cell proteins involved with the cellular SUMOylation pathway, SUMO-1 (small ubiquitin-like modifier) and UBC9, a SUMO-1 conjugating enzyme that interact with classical swine fever virus (CSFV) Core protein.", "Ubiquitin-conjugating enzyme 9 (Ubc9), the sole conjugating enzyme for sumoylation, regulates protein function and plays an important role in sumoylation-mediated cellular pathways.", "In this study, we found that the SUMOylation pathway was involved in the DENV life cycle, since DENV replication was reduced by silencing the cellular gene Ubc9, which encodes the sole E2-conjugating enzyme required for SUMOylation.", "Here we demonstrate that the synaptic diffusion of Ubc9, the sole conjugating enzyme of the sumoylation pathway, is regulated by synaptic activity.", "The SUMO pathway parallels the classical ubiquitinylation pathway with three discrete steps: activation involving the enzyme E1, conjugation involving the E2 enzyme UBC9, and substrate modification through the cooperative association of UBC9 and E3 ligases.", "RAP80 interacts with the SUMO-conjugating enzyme UBC9 and is a novel target for sumoylation.", "Among the proteins involved in the sumoylation pathway, Ubc9 is the sole E2-conjugating enzyme required for sumoylation and plays a central role by interacting with almost all of the partners required for sumoylation.", "Although there are multiple E2 enzymes required for ubiquitination, there is only one E2-conjugating enzyme for sumoylation, which is Ubc9.", "Consistent with a role of sumoylation in inhibiting Tec1 activity, specifically increasing sumoylation of Tec1 by fusing it to the sumoylating enzyme Ubc9 leads to a dramatic decrease of Tec1 transcriptional activity.", "Ubc9 is an E2-conjugating enzyme required for sumoylation and has been implicated in regulating several critical cellular pathways.", "We also exposed placental explants to hypoxia to study the effect on the SUMOylation pathway.We observed steady-state expression of SUMO1-3, SUMO-conjugated enzyme-UBC9 and deSUMOylating enzymes - SENPs, throughout normal gestation", "It has been reported that ubiquitin-conjugating enzyme 9 (Ubc9), the unique enzyme2 in the sumoylation pathway, is up-regulated in many cancers", "Among the proteins involved in the sumoylation pathway, Ubc9 is the sole E2-conjugating enzyme required for sumoylation and plays a central role by interacting with almost all of the partners required for sumoylation", "Here we demonstrate that the synaptic diffusion of Ubc9, the sole conjugating enzyme of the sumoylation pathway, is regulated by synaptic activity", "Here, we investigated inhibition of sumoylation as a novel antifibrotic approach.Sumoylation was inhibited by siRNA-mediated knockdown of the Small Ubiquitin-like MOdifiers (SUMO) E2-conjugating enzyme Ubc9, which is essential for sumoylation", "Here we have identified host cell proteins involved with the cellular SUMOylation pathway, SUMO-1 (small ubiquitin-like modifier) and UBC9, a SUMO-1 conjugating enzyme that interact with classical swine fever virus (CSFV) Core protein", "A new pathway that contributes to mutant CFTR degradation is mediated by the small heat shock protein, Hsp27, which cooperates with Ubc9, the E2 enzyme for SUMOylation, to selectively conjugate mutant CFTR with SUMO-2/3", "Using transfection of Ets-1 wildtype (WT) or its sumoylation deficient version (Ets-1 K15R/K227R), as well as WT or mutant proteins of the SUMO pathway, we further demonstrated that the E2 SUMO-conjugating enzyme Ubc9 and a E3 SUMO ligase, PIASy, can enhance Ets-1 sumoylation, while a SUMO protease, SENP1, can desumoylate Ets-1", "The results show that basal SUMO modification is required for stimuli-induced p100 phosphorylation and that blocking SUMOylation of p100, either by site-directed mutation or by short interfering RNA-targeted diminution of E2 SUMO-conjugating enzyme Ubc9, inhibits various physiological stimuli-induced p100 processing and ultimate activation of the alternative NF-kappaB pathway", "Sumoylation proceeds via an enzymatic pathway that is mechanistically analogous to ubiquitination, but requires a different E1-activating enzyme and Ubc9, a SUMO-specific E2-conjugating enzyme", "SUMO-conjugating enzyme E2 UBC9 mediates viral immediate-early protein SUMOylation in crayfish to facilitate reproduction of white spot syndrome virus.", "OBJECTIVE: To determine the role of ubiquitin-conjugating enzyme 9 (UBC9), a small ubiquitin-like modifier-conjugating enzyme, in cardiomyocyte protein quality control. ", "Ubiquitin-conjugating enzyme 9 (Ubc9), the sole conjugating enzyme for sumoylation, regulates protein function and plays a key role in tumorigenesis. ", "UBC9 is the only E2 conjugating enzyme involved in this process, and loss of UBC9 completely abolishes the SUMOylation pathway.", "Here we demonstrate that the synaptic diffusion of Ubc9, the sole conjugating enzyme of the sumoylation pathway, is regulated by synaptic activity.", "Sumoylation proceeds via an enzymatic pathway that is mechanistically analogous to ubiquitination, but requires a different E1-activating enzyme and Ubc9, a SUMO-specific E2-conjugating enzyme.", "Western blot analysis, EMSA, ELISA, confocal microscopy and immunoprecipitation demonstrated that drastic tissue hypoxia, elevated levels of proteins conjugated by small ubiquitin-related modifier-1 (SUMO-1), Ubc9 (the only known conjugating enzyme for the sumoylation pathway) or HIF-1α, augmented sumoylation of HIF-1α, nucleus-bound translocation and enhanced transcriptional activity of HIF-1α in RVLM neurons took place preferentially during the pro-life phase of experimental brain death.", "In this study, we found that the SUMOylation pathway was involved in the DENV life cycle, since DENV replication was reduced by silencing the cellular gene Ubc9, which encodes the sole E2-conjugating enzyme required for SUMOylation.", "In this study, we revisited the role of Tax SUMOylation using a strategy based on the targeting of Ubc9, the unique E2 SUMO-conjugating enzyme.", "Taken together, these findings provide evidence for regulated sumoylation as a mechanism to modulate the activity of Tec1 and validate Ubc9 fusion-directed sumoylation as a useful approach for studying protein sumoylation.", "We report that the high risk HPVE6 proteins reduce the intracellular quantity of the sole SUMO conjugation enzyme, Ubc9, concomitant with decreased host sumoylation.", "We observed steady-state expression of SUMO1-3, SUMO-conjugated enzyme-UBC9 and deSUMOylating enzymes - SENPs, throughout normal gestation.", "As the sole E2 enzyme for SUMOylation, Ubc9 is predominantly nuclear.", "Expression of small ubiquitin-like modifier (SUMO) molecules, SUMO E1 activating enzymes SAE1 and SAE2, SUMO E2 conjugating enzyme UBC9, and de-sumoylation enzyme sentrin/SUMO-specific proteases (SENP)1 was immunolocalized in rat intervertebral disc (IVD) cells." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24991007", "http://www.ncbi.nlm.nih.gov/pubmed/20561671", "http://www.ncbi.nlm.nih.gov/pubmed/25311713", "http://www.ncbi.nlm.nih.gov/pubmed/23628505", "http://www.ncbi.nlm.nih.gov/pubmed/21510985", "http://www.ncbi.nlm.nih.gov/pubmed/20800867", "http://www.ncbi.nlm.nih.gov/pubmed/16862185", "http://www.ncbi.nlm.nih.gov/pubmed/18617892", "http://www.ncbi.nlm.nih.gov/pubmed/19323834", "http://www.ncbi.nlm.nih.gov/pubmed/21518767", "http://www.ncbi.nlm.nih.gov/pubmed/21390240", "http://www.ncbi.nlm.nih.gov/pubmed/25097219", "http://www.ncbi.nlm.nih.gov/pubmed/20865051", "http://www.ncbi.nlm.nih.gov/pubmed/23708104", "http://www.ncbi.nlm.nih.gov/pubmed/21444718", "http://www.ncbi.nlm.nih.gov/pubmed/25637535", "http://www.ncbi.nlm.nih.gov/pubmed/26582473", "http://www.ncbi.nlm.nih.gov/pubmed/26889037", "http://www.ncbi.nlm.nih.gov/pubmed/23097446", "http://www.ncbi.nlm.nih.gov/pubmed/17698038", "http://www.ncbi.nlm.nih.gov/pubmed/26826302", "http://www.ncbi.nlm.nih.gov/pubmed/23381475", "http://www.ncbi.nlm.nih.gov/pubmed/27425617", "http://www.ncbi.nlm.nih.gov/pubmed/23187003", "http://www.ncbi.nlm.nih.gov/pubmed/22525038", "http://www.ncbi.nlm.nih.gov/pubmed/15546615", "http://www.ncbi.nlm.nih.gov/pubmed/11867732", "http://www.ncbi.nlm.nih.gov/pubmed/27142163", "http://www.ncbi.nlm.nih.gov/pubmed/23078246", "http://www.ncbi.nlm.nih.gov/pubmed/25191977", "http://www.ncbi.nlm.nih.gov/pubmed/15087395", "http://www.ncbi.nlm.nih.gov/pubmed/21278366", "http://www.ncbi.nlm.nih.gov/pubmed/22904261", "http://www.ncbi.nlm.nih.gov/pubmed/19826484" ]

[]

[ "http://www.uniprot.org/uniprot/UBC9_CHICK", "http://www.uniprot.org/uniprot/UBC9_MESAU", "http://www.uniprot.org/uniprot/UBC9_XENLA", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058207", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004798", "http://www.uniprot.org/uniprot/UBC9_ARATH", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025841", "http://www.uniprot.org/uniprot/UBC9_YEAST", "http://www.uniprot.org/uniprot/UBC9_SCHPO", "http://www.uniprot.org/uniprot/UBC9_HUMAN", "http://www.uniprot.org/uniprot/UBC9_DICDI", "http://amigo.geneontology.org/amigo/term/GO:0016925", "http://www.uniprot.org/uniprot/UBC9_ICTTR", "http://www.uniprot.org/uniprot/UBC9_MOUSE" ]

[ "Yes. Micro-C XL is an improved method for analysis of chromosome folding at mononucleosome resolution." ]

[ "yes" ]

[ "We present Micro-C XL, an improved method for analysis of chromosome folding at mononucleosome resolution", "We present Micro-C XL, an improved method for analysis of chromosome folding at mononucleosome resolution.", "Micro-C XL: assaying chromosome conformation from the nucleosome to the entire genome.", "Micro-C XL provides a single assay to interrogate chromosome folding at length scales from the nucleosome to the full genome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27723753" ]

[]

[]

[ "Mutations in the KATP channel can lead to neonatal diabetes.", "Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively." ]

[ "yes" ]

[ "Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively.", "To date, all patients affected by neonatal diabetes due to a mutation in the pore-forming subunit of the channel (Kir6.2, KCNJ11) are heterozygous for the mutation. ", "e report the first clinical case of neonatal diabetes caused by a homozygous KCNJ11 mutation", "Diffuse congenital hyperinsulinism in infancy (CHI-D) arises from mutations inactivating the KATP channel;", "We report a case of a 6-week-old infant with diabetes mellitus based on a genetic defect in the sulfonylurea receptor 1 (SUR1), an ATP-sensitive potassium (KATP) channel protein.", "In diabetes, vascular KATP channel function is impaired." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25931474", "http://www.ncbi.nlm.nih.gov/pubmed/27118464", "http://www.ncbi.nlm.nih.gov/pubmed/15746700", "http://www.ncbi.nlm.nih.gov/pubmed/24827651" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016640", "http://www.disease-ontology.org/api/metadata/DOID:11717", "http://www.disease-ontology.org/api/metadata/DOID:9351", "http://www.biosemantics.org/jochem#4277521", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011188", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011189", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003921", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003923", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003922", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4277521", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003920", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D024681", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003924", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015221" ]

[ "FimA has been characterized as an important virulence factor for P. gingivalis, and many studies, both animal experiments and clinical investigations, have characterized fimA genotypes II, Ib, and IV to be associated with disease (periodontitis and cardiovascular disease)" ]

[ "genotypes II", "genotypes Ib", "genotypes IV" ]

[ " FimA has been characterized as an important virulence factor for P. gingivalis, and many studies, both animal experiments and clinical investigations, have characterized fimA genotypes II, Ib, and IV to be associated with disease (periodontitis and cardiovascular disease) ", "Long fimbriae (FimA) are important virulence factors of Porphyromonas gingivalis. Based on the diversity of the fimA gene, this species is classified into 6 genotypes. ", " In cases of chronic apical periodontitis, P. gingivalis variant type IV was the most prevalent (24%), followed by types I (20%), II (16%), and III (8%). In acute abscess samples, variant type II was the most prevalent (12%), followed by types III and IV (8% of each) and type I (4%).", "We show that P. gingivalis strains with genotype I and II of FimA are efficient in interaction with saliva or S. gordonii. ", "A strong association between Porphyromonas gingivalis fimA genotypes II and Ib and chronic periodontitis exists in the Spanish population. The most prevalent genotype in periodontal patients is II.", "Our results suggest that the presence of P. gingivalis is associated with periodontal diseases, and that the type II, IV and Ib/II combination are the most common among fimA genotypes.", "Statistical analysis, however, revealed that a more significant correlation was found between periodontitis and the occurrence of type Ib fimA.", " Type II of fimA was the most prevalent genotype of P. gingivalis in patients with AgP. ", "The population of Tregs further decreased in patients with type II FimA compared with the other types. P.gingivlias FimA genotype II was the dominant type associated with decreased Treg population. ", "A trend toward a greater frequency of FimA II genotype in patients with moderate and severe periodontitis was determined.", "The fimA type Ib genotype of P. gingivalis was found to play a critical role in the destruction of peri-implant tissue, suggesting that it may be a distinct risk factor for peri-implantitis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22549664", "http://www.ncbi.nlm.nih.gov/pubmed/20219603", "http://www.ncbi.nlm.nih.gov/pubmed/22466890", "http://www.ncbi.nlm.nih.gov/pubmed/23264452", "http://www.ncbi.nlm.nih.gov/pubmed/26387644", "http://www.ncbi.nlm.nih.gov/pubmed/22053966", "http://www.ncbi.nlm.nih.gov/pubmed/23646850", "http://www.ncbi.nlm.nih.gov/pubmed/24466164", "http://www.ncbi.nlm.nih.gov/pubmed/26937292", "http://www.ncbi.nlm.nih.gov/pubmed/26600627" ]

[]

[]

[ "Yes, rucaparib is a PARP inhibitor that is used for ovarian cancer treatment." ]

[ "yes" ]

[ "While olaparib is the first PARP inhibitor to receive approval for ovarian cancer treatment, others including rucaparib and niraparib are clearly effective in this disease and, within the next year or two, the results of ongoing randomised trials will clarify their respective roles. ", "Similar trials with other PARP inhibitors (rucaparib, niraparib and veliparib) are in progress and include non-BRCA-mutated ovarian cancer. ", "IMPLICATIONS FOR PRACTICE: The poly(ADP-ribose) polymerase (PARP) inhibitor olaparib has recently received approval from the Food and Drug Administration (FDA) and European Medicines Agency (EMA), with a second agent (rucaparib) likely to be approved in the near future.", "Ovarian Cancers Harbour Defects in Non-Homologous End Joining Resulting in Resistance to Rucaparib.", "There are a number of other PARP inhibitors in late phase clinical development in ovarian cancer including rucaparib, niraparib, veliparib, and talazoparib. ", "Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial.", "INTERPRETATION: In patients with BRCA mutant or BRCA wild-type and LOH high platinum-sensitive ovarian carcinomas treated with rucaparib, progression-free survival was longer than in patients with BRCA wild-type LOH low carcinomas. Our results suggest that assessment of tumour LOH can be used to identify patients with BRCA wild-type platinum-sensitive ovarian cancers who might benefit from rucaparib. ", "Genomic LOH May Predict Rucaparib Response in Ovarian Cancer.", "High LOH is associated with response to the PARP inhibitor rucaparib in BRCA wild-type ovarian cancer.", "Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer.", "While olaparib is the first PARP inhibitor to receive approval for ovarian cancer treatment, others including rucaparib and niraparib are clearly effective in this disease and, within the next year or two, the results of ongoing randomised trials will clarify their respective roles.", "These results support further clinical evaluation of rucaparib either as a single agent or as an adjunct to chemotherapy for the treatment of sporadic ovarian cancer.", "Here, we investigate the potential role of the PARP inhibitor rucaparib (CO-338, formerly known as AG014699 and PF-01367338) for the treatment of sporadic ovarian cancer.", "Rucaparib received US FDA Breakthrough Therapy designation for treatment of platinum-sensitive BRCA-mutated advanced ovarian cancer patients who received greater than two lines of platinum-based therapy.", "These results support further clinical evaluation of rucaparib either as a single agent or as an adjunct to chemotherapy for the treatment of sporadic ovarian cancer.", "Ongoing clinical trials are assessing the efficacy of rucaparib alone or in combination with other cytotoxic drugs, mainly in breast and ovarian cancer patients with mutations in the breast cancer associated (BRCA) genes.PURPOSE: We aimed to establish whether the multidrug efflux transporters ABCG2 (BCRP) and ABCB1 (P-gp, MDR1) affect the oral availability and brain penetration of rucaparib in mice.RESULTS: In vitro, rucaparib was efficiently transported by both human ABCB1 and ABCG2, and very efficiently by mouse Abcg2.", "Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer", "Here, we investigate the potential role of the PARP inhibitor rucaparib (CO-338, formerly known as AG014699 and PF-01367338) for the treatment of sporadic ovarian cancer", "These results support further clinical evaluation of rucaparib either as a single agent or as an adjunct to chemotherapy for the treatment of sporadic ovarian cancer.<CopyrightInformation>©2013 AACR</", "Ongoing clinical trials are assessing the efficacy of rucaparib alone or in combination with other cytotoxic drugs, mainly in breast and ovarian cancer patients with mutations in the breast cancer associated (BRCA) genes.We aimed to establish whether the multidrug efflux transporters ABCG2 (BCRP) and ABCB1 (P-gp, MDR1) affect the oral availability and brain penetration of rucaparib in mice.In vitro, rucaparib was efficiently transported by both human ABCB1 and ABCG2, and very efficiently by mouse Abcg2", "Here, we investigate the potential role of the PARP inhibitor rucaparib (CO-338, formerly known as AG014699 and PF-01367338) for the treatment of sporadic ovarian cancer. ", "While olaparib is the first PARP inhibitor to receive approval for ovarian cancer treatment, others including rucaparib and niraparib are clearly effective in this disease and, within the next year or two, the results of ongoing randomised trials will clarify their respective roles.", "We investigated the efficacy and safety of single-agent rucaparib in germline (g) BRCA mutation carriers with advanced breast and ovarian cancers.Phase II, open-label, multicentre trial of rucaparib in proven BRCA-1/2 mutation carriers with advanced breast and or ovarian cancer, WHO PS 0-1 and normal organ function.", "These results support further clinical evaluation of rucaparib either as a single agent or as an adjunct to chemotherapy for the treatment of sporadic ovarian cancer.<CopyrightInformation>©2013 AACR</C", "Similar trials with other PARP inhibitors (rucaparib, niraparib and veliparib) are in progress and include non-BRCA-mutated ovarian cancer.", "Rucaparib received US FDA Breakthrough Therapy designation for treatment of platinum-sensitive BRCA-mutated advanced ovarian cancer patients who received greater than two lines of platinum-based therapy.", "Therapeutic potential of the poly(ADP-ribose) polymerase inhibitor rucaparib for the treatment of sporadic human ovarian cancer.", "These results support further clinical evaluation of rucaparib either as a single agent or as an adjunct to chemotherapy for the treatment of sporadic ovarian cancer.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24962512", "http://www.ncbi.nlm.nih.gov/pubmed/27141070", "http://www.ncbi.nlm.nih.gov/pubmed/27087632", "http://www.ncbi.nlm.nih.gov/pubmed/27940438", "http://www.ncbi.nlm.nih.gov/pubmed/26281686", "http://www.ncbi.nlm.nih.gov/pubmed/27141062", "http://www.ncbi.nlm.nih.gov/pubmed/27702817", "http://www.ncbi.nlm.nih.gov/pubmed/27908594", "http://www.ncbi.nlm.nih.gov/pubmed/27002934", "http://www.ncbi.nlm.nih.gov/pubmed/27716873", "http://www.ncbi.nlm.nih.gov/pubmed/27022037", "http://www.ncbi.nlm.nih.gov/pubmed/23729402" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812", "http://www.disease-ontology.org/api/metadata/DOID:2394", "http://www.disease-ontology.org/api/metadata/DOID:4001", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D024221" ]

[ "Cohesins form cell-type-specific long-range chromosomal cis-interactions at the developmentally regulated IFNG locus. Hence, the ability of cohesin to constrain chromosome topology is used not only for the purpose of sister chromatid cohesion, but also to dynamically define the spatial conformation of specific loci. This new aspect of cohesin function is probably important for normal development and disease." ]

[]

[ "Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus.", "Here we show that cohesin forms the topological and mechanistic basis for cell-type-specific long-range chromosomal interactions in cis at the developmentally regulated cytokine locus IFNG. Hence, the ability of cohesin to constrain chromosome topology is used not only for the purpose of sister chromatid cohesion, but also to dynamically define the spatial conformation of specific loci. This new aspect of cohesin function is probably important for normal development and disease", "Here we show that cohesin forms the topological and mechanistic basis for cell-type-specific long-range chromosomal interactions in cis at the developmentally regulated cytokine locus IFNG.", "Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus", "Here we show that cohesin forms the topological and mechanistic basis for cell-type-specific long-range chromosomal interactions in cis at the developmentally regulated cytokine locus IFNG", "Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus.", "Here we show that cohesin forms the topological and mechanistic basis for cell-type-specific long-range chromosomal interactions in cis at the developmentally regulated cytokine locus IFNG." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19458616" ]

[]

[ "http://www.uniprot.org/uniprot/IFNG_NUMME", "http://www.uniprot.org/uniprot/IFNG_PHOSU", "http://www.uniprot.org/uniprot/IFNG_PHACO", "http://www.uniprot.org/uniprot/IFNG_PAPAN", "http://www.uniprot.org/uniprot/IFNG_LAMGL", "http://www.uniprot.org/uniprot/IFNG_RABIT", "http://www.uniprot.org/uniprot/IFNG_MACMU", "http://www.uniprot.org/uniprot/IFNG_PANTR", "http://www.uniprot.org/uniprot/IFNG_PERMA", "http://www.uniprot.org/uniprot/IFNG_MACFA" ]

[ "Wellens Syndrome (WS) is a condition characterized by typical changes in ECG, which are biphasic T-wave inversions (less common) or symmetric and deeply inverted T waves (including 75%) in lead V2-V3 chest derivations." ]

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[ "NTRODUCTION: Wellens Syndrome (WS) is a condition characterized by typical changes in ECG, which are biphasic T-wave inversions (less common) or symmetric and deeply inverted T waves (including 75%) in lead V2-V3 chest derivations. ", "BACKGROUND: Reperfusion after coronary occlusion (myocardial infarction, MI), as in Wellens' syndrome, is often represented on ECG as T-wave inversion in the leads overlying the affected myocardial wall(s). ", "Her presentation was concerning for acute coronary syndrome, Wellens syndrome in particular, given the elevated troponin levels, lack of ST segment changes, and characteristic T-wave findings. ", "Omnious T-wave inversions: Wellens' syndrome revisited.", "Wellens' syndrome is characterized by T-wave changes in electrocardiogram (EKG) during pain-free period in a patient with intermittent angina chest pain. ", "We describe a case of a 42-year-old man, with a previous episode of angina and a normal ECG and serum cardiac markers, and a two months later finding of biphasic T wave in leads V2-V3 and deeply inverted T wave in V4-V5 at a asymptomatic occupational evaluation. This is a typical ECG pattern of Wellens' syndrome.", "Whereas the Wellens' syndrome is characterized by symmetrically inverted T-waves with preserved R waves in the precordial leads suggestive of impending myocardial infarction due to a critical proximal left anterior descending stenosis, the pseudo-Wellens' syndrome caused by coronary artery spasm has also rarely been reported in literature.", "The Wellens electrocardiogram (ECG) pattern of dynamic T-wave inversion in the anterior leads is observed in clinical conditions characterized by reversible left ventricular (LV) dysfunction (stunned myocardium), either ischemic or nonischemic", "Wellens Syndrome (WS) is a condition characterized by typical changes in ECG, which are biphasic T-wave inversions (less common) or symmetric and deeply inverted T waves (including 75%) in lead V2-V3 chest derivations.", "The initial electrocardiogram (ECG) showed biphasic T-waves in V2-V4, which was recognized as Wellens' syndrome, or acute coronary T-wave syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27609724", "http://www.ncbi.nlm.nih.gov/pubmed/23420731", "http://www.ncbi.nlm.nih.gov/pubmed/21106319", "http://www.ncbi.nlm.nih.gov/pubmed/12442245", "http://www.ncbi.nlm.nih.gov/pubmed/16380872", "http://www.ncbi.nlm.nih.gov/pubmed/27951539", "http://www.ncbi.nlm.nih.gov/pubmed/26432739", "http://www.ncbi.nlm.nih.gov/pubmed/25161778", "http://www.ncbi.nlm.nih.gov/pubmed/18649894", "http://www.ncbi.nlm.nih.gov/pubmed/14708424", "http://www.ncbi.nlm.nih.gov/pubmed/27041816", "http://www.ncbi.nlm.nih.gov/pubmed/25954534", "http://www.ncbi.nlm.nih.gov/pubmed/21267975", "http://www.ncbi.nlm.nih.gov/pubmed/17720261", "http://www.ncbi.nlm.nih.gov/pubmed/27473406", "http://www.ncbi.nlm.nih.gov/pubmed/18394847", "http://www.ncbi.nlm.nih.gov/pubmed/21699846", "http://www.ncbi.nlm.nih.gov/pubmed/2357882" ]

[]

[]

[ "Ggene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS)." ]

[ "ALS", "amyotrophic lateral sclerosis" ]

[ "Finally, we found that mutations in UBQLN2, which lead to neurodegeneration in humans, are defective in chaperone binding, impair aggregate clearance, and cause cognitive deficits in mice.", "UBQLN2 mutations are detected in ALS cases.", "C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand", "Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS-FTD). ", "Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.", "A mutation in the ubiquilin 2 gene (UBQLN2) was recently identified as a cause of X-linked amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) ", "Interest in the proteins has been heightened by the discovery that gene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27400686", "http://www.ncbi.nlm.nih.gov/pubmed/27480424", "http://www.ncbi.nlm.nih.gov/pubmed/25398946", "http://www.ncbi.nlm.nih.gov/pubmed/26075709", "http://www.ncbi.nlm.nih.gov/pubmed/27834214", "http://www.ncbi.nlm.nih.gov/pubmed/27477512" ]

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[ "Type III hyperlipoproteinemia (HLP) is characterized by the accumulation of remnant lipoproteins in the plasma and it is associated with ApoE2 isoform. ApoE2 binds poorly to low density lipoprotein receptors, resulting in defective remnant lipoprotein clearance." ]

[ "ApoE2 isoform", "Apolipoprotein E2 isoform" ]

[ "ApoE2 which differs from apoE3 by the single amino acid substitution Arg158Cys located near the LDLR recognition site exhibits impaired binding to the receptor and an inability to promote clearance of TG-rich lipoprotein remnant particles; this isoform is associated with Type-III hyperlipoproteinemia. ", "Type III hyperlipoproteinemia (HLP), a disorder associated with a high incidence of premature cardiovascular diseases, is characterized by the accumulation of remnant lipoproteins in the plasma. The primary genetic defect in patients with type III HLP is the presence of apolipoprotein E2 (apoE2), an isoform of apoE, and accumulation of remnant lipoproteins in the plasma has been thought to be attributable to the presence of apoE2, which bind poorly to low density lipoprotein receptors, resulting in defective remnant lipoprotein clearance. ", "ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. ", "Reduced expression of the LDLR is believed to be a precipitating factor in the pathogenesis of type III hyperlipoproteinemia (HLP) in some humans homozygous for the apoE2 allele (APOE*2). ", "Overall, the 2.3-fold normal level of LDLR message in heterozygotes completely ameliorates type III HLP caused by the homozygosity for the human APOE*2 allele, normalizing their plasma lipoprotein profile.", "Isoform (allele)-specific effects include the association of apoE2 with the genetic disorder type III hyperlipoproteinemia and with both increased and decreased risk for atherosclerosis and the association of apoE4 with increased risk for both atherosclerosis and Alzheimer's disease, impaired cognitive function, and reduced neurite outgrowth; isoform-specific differences in cellular signaling events may also exist.", "Type III hyperlipoproteinemia and spontaneous atherosclerosis in mice resulting from gene replacement of mouse Apoe with human Apoe*2.", "Mice expressing human apoE2 (2/2) have virtually all the characteristics of type III hyperlipoproteinemia. ", "ApoE has three major genetically determined isoproteins in plasma, designated apoE-2, apoE-3 and apoE-4, with homozygosity for the allele coding for apoE-2 being associated with dysbetalipoproteinemia or type III hyperlipoproteinemia (HLP).", "Type III hyperlipoproteinemia typically is associated with homozygosity for apolipoprotein (apo) E2(Arg158----Cys).", "ApoE is a polymorphic protein, and homozygosity for the E2 allele is associated with type III hyperlipoproteinemia.", "Homozygosity for the apolipoprotein (apo) E variant apoE2(158 Arg----Cys) invariably gives rise to dysbetalipoproteinemia, and when associated with obesity or a gene for hyperlipidemia, results in type III hyperlipoproteinemia.", "ApoE has three major genetically determined isoproteins in plasma, designated apoE-2, apoE-3 and apoE-4, with homozygosity for the allele coding for apoE-2 being associated with dysbetalipoproteinemia or type III hyperlipoproteinemia (HLP).", "From the data of a high association of apo E4 allele and cardiovascular disease with hypercholesterolemia, apo E isoform may be one of the determinants of hyperlipoproteinemia.", "Isoform (allele)-specific effects include the association of apoE2 with the genetic disorder type III hyperlipoproteinemia and with both increased and decreased risk for atherosclerosis and the association of apoE4 with increased risk for both atherosclerosis and Alzheimers disease, impaired cognitive function, and reduced neurite outgrowth; isoform-specific differences in cellular signaling events may also exist", "Whereas the association of the apo E2 isoform with primary dysbetalipoproteinemia and hyperlipoproteinemia type III is well established, the plasma- and LDL-cholesterol lowering effects of apo E2 and the phenomenon of apo E4 raising these parameters on the development of coronary heart disease is still a matter of controversial discussion. ", "The primary genetic defect in patients with type III HLP is the presence of apolipoprotein E2 (apoE2), an isoform of apoE, and accumulation of remnant lipoproteins in the plasma has been thought to be attributable to the presence of apoE2, which bind poorly to low density lipoprotein receptors, resulting in defective remnant lipoprotein clearance. ", "In the normal population, ApoE3 isoform is the most prevalent, and ApoE2 or E4 is frequently associated with hyperlipoproteinemia.", "ApoE2 which differs from apoE3 by the single amino acid substitution Arg158Cys located near the LDLR recognition site exhibits impaired binding to the receptor and an inability to promote clearance of TG-rich lipoprotein remnant particles; this isoform is associated with Type-III hyperlipoproteinemia.", "In the normal population apo E3 isoform is most prevalent and apo E2 or E4 is frequently associated with hyperlipoproteinemia.", "From the data of a high association of apo E4 allele and cardiovascular disease with hypercholesterolemia, apo E isoform may be one of the determinants of hyperlipoproteinemia.", "We describe a new variant of apoE, apoE-1Harrisburg, which is, in contrast to apoE-2, dominantly associated with type III HLP.", "ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele.", "Type III hyperlipoproteinemia is characterized by delayed chylomicron and VLDL remnant catabolism and is associated with homozygosity for the apoE-2 allele.", "The association of the E2/2 phenotype with type IV/V hyperlipoproteinemia rather than type III hyperlipoproteinemia in identical twin brothers led us to investigate the primary structure of their apoE.", "ApoE2 is defective in binding and homozygosity for apoE2 is associated with type III hyperlipoproteinemia (HLP).", "Homozygous carriers of apoE2 have an increased risk to develop type III hyperlipoproteinemia, whereas apoE4 is associated with elevated levels of low-density lipoprotein cholesterol.", "Patients homozygous for apolipoprotein E2 are predisposed to type III hyperlipoproteinemia, and apoE2 may be protective against AD." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18823563", "http://www.ncbi.nlm.nih.gov/pubmed/8175773", "http://www.ncbi.nlm.nih.gov/pubmed/11163021", "http://www.ncbi.nlm.nih.gov/pubmed/2609136", "http://www.ncbi.nlm.nih.gov/pubmed/11701639", "http://www.ncbi.nlm.nih.gov/pubmed/15630629", "http://www.ncbi.nlm.nih.gov/pubmed/2341812", "http://www.ncbi.nlm.nih.gov/pubmed/6578216", "http://www.ncbi.nlm.nih.gov/pubmed/9649566", "http://www.ncbi.nlm.nih.gov/pubmed/25328986", "http://www.ncbi.nlm.nih.gov/pubmed/2804053", "http://www.ncbi.nlm.nih.gov/pubmed/3585172", "http://www.ncbi.nlm.nih.gov/pubmed/10419818", "http://www.ncbi.nlm.nih.gov/pubmed/21716749", "http://www.ncbi.nlm.nih.gov/pubmed/21467726", "http://www.ncbi.nlm.nih.gov/pubmed/22981543", "http://www.ncbi.nlm.nih.gov/pubmed/8198763", "http://www.ncbi.nlm.nih.gov/pubmed/7635945", "http://www.ncbi.nlm.nih.gov/pubmed/2048769", "http://www.ncbi.nlm.nih.gov/pubmed/11076954", "http://www.ncbi.nlm.nih.gov/pubmed/1730728" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006951", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053329", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006952", "http://www.disease-ontology.org/api/metadata/DOID:3145", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011973" ]

[ "Yes, hypophosphatemic rickets could cause craniosynostosis." ]

[ "yes" ]

[ "This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. ", "Hypophosphatemic rickets and craniosynostosis: a multicenter case series.", "A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. ", "Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis.", "Patients with multisutural involvement or X-linked hypophosphatemic rickets had a significant delay in presentation for craniosynostosis. ", "Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets, which results from a deficiency or impaired metabolism of vitamin D, magnesium, phosphorus or calcium leading to hypomineralization of the bone. X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene. In XLHR, only few case reports of craniosynostosis were described.", "Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis.", "Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH.", "X-linked hypophosphatemic rickets and craniosynostosis.", "X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis. A clinical report of a patient with XLH rickets and craniosynostosis is presented with a review of literature. ", "This may be the reason for the common association of craniosynostosis and XLH rickets. ", "Craniosynostosis and associated craniofacial deformities, such as frontal bossing, often occur as symptoms of vitamin D-resistant rickets in children. Similar skull deformities develop in mice with X-linked dominant hypophosphatemia, the most common form of vitamin D-resistant rickets. ", "The x-linked hypophosphatemic mouse is an animal model that can be used to study the role of vitamin D-resistant rickets in the development of craniosynostosis, to relate craniosynostosis to the development of associated skull deformities, and to test new treatment procedures.", "Craniosynostosis secondary to rickets is rarely reported, but since neither rickets nor craniosynostosis is a reportable disease, the exact incidence of both diseases is unknown.", "X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis.", "A clinical report of a patient with XLH rickets and craniosynostosis is presented with a review of literature.", "METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers.", "Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report.", "X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review", "X-linked hypophosphatemic rickets and craniosynostosis", "X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis", "The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution.To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings.Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years", "Those with multisutural synostosis presented at a significantly older age than patients with sagittal or bicoronal synostosis.Patients with multisutural involvement or X-linked hypophosphatemic rickets had a significant delay in presentation for craniosynostosis", "Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis", "INTRODUCTION TO THE OPHTHALMIC LITERATURE OF AN UNUSUAL CAUSE OF PAPILLEDEMA AND SUBSEQUENT OPTIC ATROPHY: X-linked hypophosphatemic rickets (XLH).Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH.Early intervention with craniofacial surgery prevented the development of optic atrophy.Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision", "CONCLUSIONS: Patients with multisutural involvement or X-linked hypophosphatemic rickets had a significant delay in presentation for craniosynostosis. ", "Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets, which results from a deficiency or impaired metabolism of vitamin D, magnesium, phosphorus or calcium leading to hypomineralization of the bone. ", "Similar skull deformities develop in mice with X-linked dominant hypophosphatemia, the most common form of vitamin D-resistant rickets.", "Craniosynostosis in vitamin D-resistant rickets.", "Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets, which results from a deficiency or impaired metabolism of vitamin D, magnesium, phosphorus or calcium leading to hypomineralization of the bone.", "X-linked hypophosphatemic rickets and craniosynostosis.", "X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets, and there have been reports linking XLH rickets to craniosynostosis.", "Hypophosphatemic rickets and craniosynostosis: a multicenter case series." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26824597", "http://www.ncbi.nlm.nih.gov/pubmed/22220162", "http://www.ncbi.nlm.nih.gov/pubmed/26510652", "http://www.ncbi.nlm.nih.gov/pubmed/23466123", "http://www.ncbi.nlm.nih.gov/pubmed/23348263", "http://www.ncbi.nlm.nih.gov/pubmed/19242361", "http://www.ncbi.nlm.nih.gov/pubmed/27303470", "http://www.ncbi.nlm.nih.gov/pubmed/6265607", "http://www.ncbi.nlm.nih.gov/pubmed/25014884", "http://www.ncbi.nlm.nih.gov/pubmed/17551721", "http://www.ncbi.nlm.nih.gov/pubmed/9069051" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005624", "http://www.disease-ontology.org/api/metadata/DOID:2340", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012279", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053098", "http://www.disease-ontology.org/api/metadata/DOID:0050445", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010294", "http://www.disease-ontology.org/api/metadata/DOID:0050948", "http://www.disease-ontology.org/api/metadata/DOID:0050949", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003398", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063730", "http://www.disease-ontology.org/api/metadata/DOID:10609" ]

[ "Yes. Vortioxetine is the most recently approved medication for the treatment of major depressive disorder." ]

[ "yes" ]

[ "Vortioxetine is the most recently approved medication for the treatment of major depressive disorder (MDD). ", "[Vortioxetine: a new antidepressant to treat depressive episodes].", "Vortioxetine is a new antidepressant, which mechanism of action is multimodal, targeting the 5-HT1A, 5-HT1B, 5-HT1D, 5-HT3, 5-HT7 receptors and the serotonin transporter (5-HTT). ", "In short-term studies (8 weeks), vortioxetine is more efficacious than placebo in decreasing depressive symptoms as measured by the MADRS total score, response rate (vortioxetine: 53.2% vs placebo: 35.2%) and remission rate (vortioxetine: 29.2% vs placebo: 19.3%). In a long-term study (52 weeks), vortioxetine is also superior to placebo in preventing relapses and recurrences. Moreover, in second line treatment, after failure of a first line selective serotonin reuptake inhibitor (SSRI) or serotonin norepinephrin reuptake inhibitor (SNRI), vortioxetine is superior to agomelatine in improving depressive symptoms and achieving response and remission. ", "Against this background, we feature the novel antidepressants vortioxetine, vilazodone and milnacipran/levomilnacipran with regard to their serotonin receptor targets such as the 5-HT1A, 5-HT3 and 5-HT7 which may account for their specific effects on certain symptoms of depression (e.g. cognition and anxiety) as well as a characteristic side-effect profile.", "CONCLUSION: Vortioxetine dominated venlafaxine XR in South Korea and is a relevant treatment option for MDD patients initiating or switching therapy.", "Vortioxetine: a New Treatment for Major Depressive Disorder.", "INTRODUCTION: Vortioxetine is a structurally novel medication that has recently been approved for treatment of major depressive disorder (MDD).", "EXPERT OPINION: Results of placebo-controlled trials suggest efficacy and an overall safety profile comparable to existing first-line antidepressants. ", "The authors suggest that vortioxetine is currently a good second-line antidepressant option and shows promise, pending additional long-term data, to become a first-line antidepressant option.", "Clinical studies indicate that vortioxetine is effective in the treatment of major depression, though there is no suggestion of superiority over active comparators.", "Vortioxetine has been effective in various animal models of depression and anxiety and clinical studies have shown the antidepressant and antianxiety properties of vortioxetine in a dose range of 5-20 mg/day.", "Vortioxetine was significantly more effective than was placebo, with a standardized mean difference (SMD) of -0.118 (95% CIs, -0.203 to -0.033, P = 0.007).", "Vortioxetine for the treatment of depression.", "Vortioxetine for the treatment of major depression.", "Vortioxetine (Lu-AA-21004; 1-[2-(2,4-dimethylphenylsulfanyl)phenyl]piperazine hydrobromide) is a novel orally active molecule that is being investigated by Lundbeck and Takeda for the treatment of major depression and generalized anxiety disorders.", "Vortioxetine (Lu AA21004) is a multi-modal antidepressant in clinical development for the treatment of major depressive disorder (MDD).", "A randomized, double-blind, fixed-dose study comparing the efficacy and tolerability of vortioxetine 2.5 and 10 mg in acute treatment of adults with generalized anxiety disorder.", "Vortioxetine has been effective in various animal models of depression and anxiety and clinical studies have shown the antidepressant and antianxiety properties of vortioxetine in a dose range of 5-20 mg/day.", "Secondary endpoints included response and remission rates, anxiety symptoms(Hamilton Anxiety Rating Scale), Clinical Global Impression, overall functioning (Sheehan Disability Scale), health-related quality of life(EuroQol 5 Dimensions), productivity (work limitation questionnaire) and family functioning (Depression and Family Functioning Scale).RESULTS: Primary endpoint noninferiority was established and vortioxetine (n = 252) was superior to agomelatine (n = 241) by 2.2 MADRS points (p<0.01).", "Vortioxetine (Lu AA21004) is an antidepressant with a mechanism of action thought to be related to a combination of 2 pharmacologic actions: direct modulation of several receptors and inhibition of the serotonin transporter.To evaluate the efficacy of vortioxetine 10 and 20 mg once daily in outpatients with major depressive disorder.This 8-week, multicenter, randomized, double-blind, placebo-controlled, parallel-group study was conducted from July 2010 to January 2012 among adults with a primary diagnosis of recurrent major depressive disorder (DSM-IV-TR).Eligible subjects were randomized in 1:1:1 ratio to 1 of 3 treatment arms: vortioxetine 10 mg, vortioxetine 20 mg, or placebo once daily for 8 weeks.", "Vortioxetine (Lu AA21004) is a new antidepressant that combines a number of neurotransmitter reuptake and receptor effects that have been thought to predict efficacy as a treatment for depressive and anxiety disorders.This review summarizes the pharmacology and neurobiology of vortioxetine", "In the study of elderly patients, vortioxetine 5 mg (n = 136) improved 12-item Health Status Questionnaire scores significantly more than placebo (n = 148) for the domains of health perception (10.4, P &lt; 0.0001, SES of 0.54), mental health (7.9, P &lt; 0.001, SES of 0.44), and energy (6.4, P &lt; 0.05, SES of 0.28) (FAS, mixed model for repeated measures).Vortioxetine yielded significant, meaningful HRQoL improvements in 6 MDD studies of 6 to 8 weeks duration.", "All references included were published between 1999 and 2014.All studies that included humans and were published in English, with data describing vortioxetine for the treatment of MDD, were reviewed.Vortioxetine is a novel multimodal antidepressant agent, which inhibits the 5-HT transporter protein, acts as a 5-HT3 antagonist, 5-HT1A receptor agonist, 5-HT7 receptor antagonist, and a partial agonist of the 5-HT1B receptor", "Vortioxetine has been effective in various animal models of depression and anxiety and clinical studies have shown the antidepressant and antianxiety properties of vortioxetine in a dose range of 5-20 mg/day", "Vortioxetine is an antidepressant with multimodal activity which has shown efficacy in major depressive disorder (MDD) patients in six of ten short-term, randomized, placebo-controlled trials (completed end 2012).We performed meta-regression analyses to indirectly compare vortioxetine to seven marketed antidepressants with different mechanisms of action", "Data were available from 51 human trials involving vortioxetine, and included a total of 7,666 healthy volunteers and patients with a diagnosis of major depressive disorder (MDD) or generalized anxiety disorder who were exposed to at least 1 dose of vortioxetine for a total of 2,743 patient-years.Vortioxetine was effective in treating MDD in the United States at a dose of 20 mg/d", "Vortioxetine is a recently approved multimodal antidepressant with anxiolytic properties in preclinical studies.This double-blind, placebo-controlled study assessed the efficacy and tolerability of vortioxetine in subjects with a primary diagnosis of generalized anxiety disorder.Subjects (n = 457) were randomized 1:1:1 to treatment with placebo or vortioxetine 2.5 or 10 mg once daily", "There was a significant difference for nausea between the two groups (OR=3.01, 95 % CI=2.22-4.09, Z=7.08, P=0.00001), but no significant differences were observed for the other four adverse effects.CONCLUSIONS: For the treatment of major depressive disorder, our results show that a dose of 5 mg/day vortioxetine was more effective, but more easily induced nausea, compared to placebo.", "The efficacy and safety of 5 mg/d Vortioxetine compared to placebo for major depressive disorder: A meta-analysis.", "Vortioxetine: a meta-analysis of 12 short-term, randomized, placebo-controlled clinical trials for the treatment of major depressive disorder.", "Vortioxetine in the treatment of adult patients with major depressive disorder: a meta-analysis of randomized double-blind controlled trials.", "Vortioxetine has been effective in various animal models of depression and anxiety and clinical studies have shown the antidepressant and antianxiety properties of vortioxetine in a dose range of 5-20 mg/day. ", "Clinical studies indicate that vortioxetine is effective in the treatment of major depression, though there is no suggestion of superiority over active comparators.", "The incidence of treatment-emergent adverse events was significantly higher in the duloxetine group than in the vortioxetine group.Duloxetine was more effective but less well-tolerated than vortioxetine in MDD.", "There was no significant difference in discontinuation rates between vortioxetine and comparators owing to inefficacy (OR 0.983, 95% CI 0.585 to 1.650), whereas discontinuation owing to AEs was significantly less common in the vortioxetine than in the comparator group (OR 0.728, 95% CI 0.554 to 0.957).Studies examining the role of vortioxetine in the treatment of MDD are limited.Although our results suggest that vortioxetine may be an effective treatment option for MDD, they should be interpreted and translated into clinical practice with caution, as the meta-analysis was based on a l", "We performed a meta-analysis to increase the statistical power of these studies and enhance our current understanding of the role of vortioxetine in the treatment of MDD.We performed an extensive search of databases and the clinical trial registry.", "BACKGROUND: Vortioxetine is a recently approved multimodal antidepressant with anxiolytic properties in preclinical studies.OBJECTIVE: This double-blind, placebo-controlled study assessed the efficacy and tolerability of vortioxetine in subjects with a primary diagnosis of generalized anxiety disorder.METHODS: Subjects (n = 457) were randomized 1:1:1 to treatment with placebo or vortioxetine 2.5 or 10 mg once daily.", "Vortioxetine significantly improved objective and subjective measures of cognitive function in adults with recurrent MDD and these effects were largely independent of its effect on improving depressive symptoms.", "Furthermore, a statistically significant number of patients with MDD who were on vortioxetine have achieved a greater than or equal to 50% reduction in depression symptoms from baseline.", "BACKGROUND: Vortioxetine is a novel multimodal compound that has recently been approved by the FDA for the treatment of major depressive disorder (MDD).", "Although our results suggest that vortioxetine may be an effective treatment option for MDD, they should be interpreted and translated into clinical practice with caution, as the meta-analysis was based on a limited number of heterogeneous RCTs..", "Vortioxetine is an effective agent for the treatment of MDD, but it does not have any clear advantages over other available treatment options..", "Vortioxetine was significantly more effective than placebo for acute treatment of major depressive disorder (MDD).", "Duloxetine was more effective but less well-tolerated than vortioxetine in MDD." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26346592", "http://www.ncbi.nlm.nih.gov/pubmed/25249164", "http://www.ncbi.nlm.nih.gov/pubmed/25851751", "http://www.ncbi.nlm.nih.gov/pubmed/26525043", "http://www.ncbi.nlm.nih.gov/pubmed/26546771", "http://www.ncbi.nlm.nih.gov/pubmed/24787143", "http://www.ncbi.nlm.nih.gov/pubmed/25087600", "http://www.ncbi.nlm.nih.gov/pubmed/26464458", "http://www.ncbi.nlm.nih.gov/pubmed/24570588", "http://www.ncbi.nlm.nih.gov/pubmed/27067232", "http://www.ncbi.nlm.nih.gov/pubmed/25418918", "http://www.ncbi.nlm.nih.gov/pubmed/25650503", "http://www.ncbi.nlm.nih.gov/pubmed/23252878", "http://www.ncbi.nlm.nih.gov/pubmed/26035185", "http://www.ncbi.nlm.nih.gov/pubmed/26035186", "http://www.ncbi.nlm.nih.gov/pubmed/25893002", "http://www.ncbi.nlm.nih.gov/pubmed/22963932", "http://www.ncbi.nlm.nih.gov/pubmed/25562777", "http://www.ncbi.nlm.nih.gov/pubmed/26641142", "http://www.ncbi.nlm.nih.gov/pubmed/26358483", "http://www.ncbi.nlm.nih.gov/pubmed/26679430", "http://www.ncbi.nlm.nih.gov/pubmed/24424707", "http://www.ncbi.nlm.nih.gov/pubmed/24524096", "http://www.ncbi.nlm.nih.gov/pubmed/27139079", "http://www.ncbi.nlm.nih.gov/pubmed/26316764", "http://www.ncbi.nlm.nih.gov/pubmed/24871704", "http://www.ncbi.nlm.nih.gov/pubmed/26020712", "http://www.ncbi.nlm.nih.gov/pubmed/24676550", "http://www.ncbi.nlm.nih.gov/pubmed/25907797", "http://www.ncbi.nlm.nih.gov/pubmed/25260373", "http://www.ncbi.nlm.nih.gov/pubmed/25350320", "http://www.ncbi.nlm.nih.gov/pubmed/24684240", "http://www.ncbi.nlm.nih.gov/pubmed/25874839" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003863", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003866" ]

[ "Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results.", "Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures.", "webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA currently has three modules: 'SDA docking' to generate structures of the diffusional encounter complexes of two macromolecules, 'SDA association' to calculate bimolecular diffusional association rate constants, and 'SDA multiple molecules' to simulate the diffusive motion of hundreds of macromolecules." ]

[ "webSDA" ]

[ "webSDA: a web server to simulate macromolecular diffusional association.", "Macromolecular interactions play a crucial role in biological systems. Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results.", "webSDA currently has three modules: 'SDA docking' to generate structures of the diffusional encounter complexes of two macromolecules, 'SDA association' to calculate bimolecular diffusional association rate constants, and 'SDA multiple molecules' to simulate the diffusive motion of hundreds of macromolecules.", "Simulation of diffusional association (SDA) is a software for carrying out Brownian dynamics simulations that can be used to study the interactions between two or more biological macromolecules. webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures. webSDA facilitates and automates the use of the SDA software, and offers user-friendly visualization of results. webSDA currently has three modules: SDA docking to generate structures of the diffusional encounter complexes of two macromolecules, SDA association to calculate bimolecular diffusional association rate constants, and SDA multiple molecules to simulate the diffusive motion of hundreds of macromolecules.", "webSDA: a web server to simulate macromolecular diffusional association", "webSDA: a web server to simulate macromolecular diffusional association.", "webSDA allows users to run Brownian dynamics simulations with SDA to study bimolecular association and encounter complex formation, to compute association rate constants, and to investigate macromolecular crowding using atomically detailed macromolecular structures.", "webSDA currently has three modules: 'SDA docking' to generate structures of the diffusional encounter complexes of two macromolecules, 'SDA association' to calculate bimolecular diffusional association rate constants, and 'SDA multiple molecules' to simulate the diffusive motion of hundreds of macromolecules." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25883142" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056004", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003198", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D039301" ]

[ "White kidney bean lectin has been shown to exert anti-proliferative and apoptotic effects on cancer cells" ]

[ "yes" ]

[ "A 60-kDa glucosamine binding lectin, white kidney bean lectin (WKBL), was purified from Phaseolus vulgaris cv. white kidney beans, by application of anion exchange chromatography on Q-Sepharose, affinity chromatography on Affi-gel blue gel, and FPLC-size exclusion on Superdex 75. The anti-proliferative activity of WKBL on HONE1 cells and HepG2 cells was stronger than the activity on MCF7 cells and WRL68 cells ", "Treatment of human stomach cancer KATO III cells with hot-water extracts from adzuki beans led to their growth inhibition as well as apoptosis induction.", "Stimulation of dendritic cell maturation and induction of apoptosis in leukemia cells by a heat-stable extract from azuki bean (Vigna angularis), a promising immunopotentiating food and dietary supplement for cancer prevention.", "Human gut flora-fermented nondigestible fraction from cooked bean ( Phaseolus vulgaris L.) modifies protein expression associated with apoptosis, cell cycle arrest, and proliferation in human adenocarcinoma colon cancer cells.", "This paper reports the effect of fermentation products (FP) by hgf (FP-hgf) from NDF of cooked beans on survival and protein expression associated with apoptosis, cell cycle arrest, and proliferation in human adenocarcinoma colon cancer cells.", "PHA-E is a natural product extracted from red kidney beans, and it has been reported to induce cell apoptosis by blocking EGFR in lung cancer cells", "A Glucosamine-Specific Lectin from Green Dragon No. 8 Beans (Phaseolus vulgaris) Induced Apoptosis on Nasopharyngeal Carcinoma Cells", "PHA-E is a natural product extracted from red kidney beans, and it has been reported to induce cell apoptosis by blocking EGFR in lung cancer cells.", "The anticancer activity of δ-tocotrienol, a bioactive vitamin E present in whole grain cereals, annatto beans and palm fruit, is strongly dependent on its effect on the induction of apoptosis. δ-Tocotrienol-induced apoptosis is associated with consistent induction in the expression of the proapoptotic protein Bcl-2-associated X protein (Bax).", "NDF of cooked common beans inhibited colon carcinogenesis at an early stage by inducing cell cycle arrest of colon cells and morphological changes linked to apoptosis, thus confirming previous results obtained with gene expression studies.", "Azuki extract also inhibited the growth of human leukemia U937 cells, leading to induction of apoptosis.", "Fermentation product of soybean, black bean, and green bean mixture induces apoptosis in a wide variety of cancer cells.", "A non-digestible fraction of the common bean (Phaseolus vulgaris L.) induces cell cycle arrest and apoptosis during early carcinogenesis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24952025", "http://www.ncbi.nlm.nih.gov/pubmed/15302513", "http://www.ncbi.nlm.nih.gov/pubmed/23194196", "http://www.ncbi.nlm.nih.gov/pubmed/25997867", "http://www.ncbi.nlm.nih.gov/pubmed/23027830", "http://www.ncbi.nlm.nih.gov/pubmed/19723093", "http://www.ncbi.nlm.nih.gov/pubmed/15527074", "http://www.ncbi.nlm.nih.gov/pubmed/26769089", "http://www.ncbi.nlm.nih.gov/pubmed/22916808", "http://www.ncbi.nlm.nih.gov/pubmed/23394551", "http://www.ncbi.nlm.nih.gov/pubmed/26290674", "http://www.ncbi.nlm.nih.gov/pubmed/22524832" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017209" ]

[ "Transthyretin (TTR) is a protein synthesized in the choroid plexus, which forms the blood-cerebrospinal fluid barrier. TTR is the physiological carrier of thyroxine (T4) and retinol from the blood into the cerebrospinal fluid and their distribution in the brain. The transport of T4 is important for normal development of the brain." ]

[]

[ "Transthyretin (TTR) is a protein that binds and distributes thyroid hormones (THs). TTR synthesised in the liver is secreted into the bloodstream and distributes THs around the body, whereas TTR synthesised in the choroid plexus is involved in movement of thyroxine from the blood into the cerebrospinal fluid and the distribution of THs in the brain. This is important because an adequate amount of TH is required for normal development of the brain. ", "The choroid plexus forms the blood-cerebrospinal fluid barrier. In reptiles, birds and mammals, the main protein synthesized and secreted by the choroid plexus is a thyroid hormone distributor protein: transthyretin. This transthyretin is secreted into the cerebrospinal fluid and moves thyroid hormones from the blood into the cerebrospinal fluid. Maximal transthyretin synthesis in the choroid plexus occurs just prior to the period of rapid brain growth, suggesting that choroid plexus-derived transthyretin moves thyroid hormones from blood into cerebrospinal fluid just prior to when thyroid hormones are required for rapid brain growth. ", "Transthyretin (TTR) is a visceral protein, which facilitates the transport of thyroid hormones in blood and cerebrospinal fluid. ", "Serum TH binding proteins play a major role for the availability of TH since only free hormone concentrations may dictate cellular uptake. One of these proteins, transthyretin is also present in the cerebrospinal fluid (CSF) after being secreted by the choroid plexus. Entry routes into the brain like the blood-brain-barrier (BBB) and the blood-CSF-barrier will be explicated regarding fetal and adult status. ", "Some POPs, i.e., hydroxylated metabolites of polychlorinated biphenyls (OH-PCBs), pentachlorophenol (PCP), and perfluorooctane sulfonate (PFOS), compete with thyroxin (T4) for binding sites on transthyretin (TTR), a T4 transport protein found in plasma and cerebrospinal fluid. ", "Transthyretin (TTR), a plasma and cerebrospinal fluid protein secreted by the liver and choroid plexus, is mainly known as the physiological carrier of thyroxine (T(4)) and retinol. ", "The secretion of transthyretin by the choroid plexus into the cerebrospinal fluid may have an important function in the transport of thyroxine from the blood to the brain.", "This transthyretin is secreted into the cerebrospinal fluid and moves thyroid hormones from the blood into the cerebrospinal fluid.", "Thyroid hormones enter the choroid plexus via thyroid hormone transmembrane transporters and leave the choroid plexus to enter the cerebrospinal fluid via either thyroid hormone transmembrane transporters or via choroid plexus-derived transthyretin secreted into the cerebrospinal fluid.", "This transthyretin is secreted into the cerebrospinal fluid and moves thyroid hormones from the blood into the cerebrospinal fluid", "Maximal transthyretin synthesis in the choroid plexus occurs just prior to the period of rapid brain growth, suggesting that choroid plexus-derived transthyretin moves thyroid hormones from blood into cerebrospinal fluid just prior to when thyroid hormones are required for rapid brain growth", "Thyroid hormones enter the choroid plexus via thyroid hormone transmembrane transporters and leave the choroid plexus to enter the cerebrospinal fluid via either thyroid hormone transmembrane transporters or via choroid plexus-derived transthyretin secreted into the cerebrospinal fluid", "Transthyretin (TTR) is a visceral protein, which facilitates the transport of thyroid hormones in blood and cerebrospinal fluid", "Transthyretin (TTR) is a plasma and cerebrospinal fluid (CSF)-circulating homotetrameric protein", "Some POPs, i.e., hydroxylated metabolites of polychlorinated biphenyls (OH-PCBs), pentachlorophenol (PCP), and perfluorooctane sulfonate (PFOS), compete with thyroxin (T4) for binding sites on transthyretin (TTR), a T4 transport protein found in plasma and cerebrospinal fluid", "Transthyretin (TTR) is a homotetrameric serum and cerebrospinal fluid protein that transports both thyroxine (T(4)) and the retinol-retinol binding protein complex (holoRBP)", "Dose-dependent transthyretin inhibition of T4 uptake from cerebrospinal fluid in sheep.", "The secretion of transthyretin by the choroid plexus into the cerebrospinal fluid may have an important function in the transport of thyroxine from the blood to the brain.", "High-affinity cellular binding sites for TTR have been described; however, their function and that of choroid plexus synthesis of TTR and transport of T4 into the cerebrospinal fluid remain unclear.", "Transthyretin is the major thyroxine-binding protein in the plasma of rodents, and the main thyroxine-binding protein in the cerebrospinal fluid of both rodents and humans.", "This transthyretin is secreted into the cerebrospinal fluid and moves thyroid hormones from the blood into the cerebrospinal fluid.", "Thyroid hormones enter the choroid plexus via thyroid hormone transmembrane transporters and leave the choroid plexus to enter the cerebrospinal fluid via either thyroid hormone transmembrane transporters or via choroid plexus-derived transthyretin secreted into the cerebrospinal fluid." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25737004", "http://www.ncbi.nlm.nih.gov/pubmed/16325339", "http://www.ncbi.nlm.nih.gov/pubmed/25311081", "http://www.ncbi.nlm.nih.gov/pubmed/7965021", "http://www.ncbi.nlm.nih.gov/pubmed/24160776", "http://www.ncbi.nlm.nih.gov/pubmed/25009532", "http://www.ncbi.nlm.nih.gov/pubmed/12553433", "http://www.ncbi.nlm.nih.gov/pubmed/3601096", "http://www.ncbi.nlm.nih.gov/pubmed/23579071", "http://www.ncbi.nlm.nih.gov/pubmed/19682646", "http://www.ncbi.nlm.nih.gov/pubmed/10718550", "http://www.ncbi.nlm.nih.gov/pubmed/19075702", "http://www.ncbi.nlm.nih.gov/pubmed/1519448", "http://www.ncbi.nlm.nih.gov/pubmed/2309926", "http://www.ncbi.nlm.nih.gov/pubmed/9630636", "http://www.ncbi.nlm.nih.gov/pubmed/11294981", "http://www.ncbi.nlm.nih.gov/pubmed/7553078", "http://www.ncbi.nlm.nih.gov/pubmed/12182890", "http://www.ncbi.nlm.nih.gov/pubmed/25784853" ]

[]

[ "http://www.uniprot.org/uniprot/TTHY_MACEU", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002555", "http://www.uniprot.org/uniprot/TTHY_MACGI", "http://www.uniprot.org/uniprot/TTHY_TILRU", "http://www.uniprot.org/uniprot/TTHY_PIG", "http://www.uniprot.org/uniprot/TTHY_HUMAN", "http://www.uniprot.org/uniprot/TTHY_MONDO", "http://www.uniprot.org/uniprot/TTHY_SMIMA", "http://www.uniprot.org/uniprot/TTHY_CROPO", "http://www.uniprot.org/uniprot/TTHY_BOVIN", "http://www.uniprot.org/uniprot/TTHY_SHEEP" ]

[ "An iatrogenic disease is one that arises from treatment of another illness, such as an arrythmia that results from surgery or and hospital aquired infection in an immunocompromised patient." ]

[ "illness caused by treatment" ]

[ "Iatrogenic neurologic deficits after lumbar spine surgery are rare complications, but important to recognize and manage.", "However, we analyze its etiology in order to determine if it is from iatrogenic causes. This syndrome can be categorized as follows: mistaken diagnoses, transoperative error, technique error, poor application, poor indication", "However, the clinical events that occur during iatrogenic immunosuppression (transplantation and cancer therapy) and as a result of immunocompromise due to human immunodeficiency virus infection are currently promoting our understanding of the epidemiology of CMV disease and the definition of its clinical spectrum", "The authors observed one case of an iatrogenic subarachnoid-pleural fistula secondary to the resection of an upper lobe carcinoma of the lung.", "Radiological procedures require the intravascular administration of iodinated contrast media, which are becoming a great source of an iatrogenic disease known as contrast-induced nephropathy. ", "Many studies have reported that AED therapy is associated with metabolic bone disease and is a major iatrogenic risk factor for fractures.", " The aetiology of arrhythmias can be either iatrogenic, such as postsurgical,", "Iatrogenic diseases are defined as illnesses due to diagnostic or therapeutic procedures.", "BACKGROUND: Iatrogenic illness, defined as a disease that results from a diagnostic procedure or from any form of therapy, is a well-recognized phenomenon in clinical practice. ", "Iatrogenic diseases are defined as illnesses due to diagnostic or therapeutic procedures. ", "Iatrogenic illness, defined as a disease that results from a diagnostic procedure or from any form of therapy, is a well-recognized phenomenon in clinical practice.To study and evaluate major cardiac iatrogenic disease as the cause of admission to the intensive cardiac care unit in the modern era.We assessed 64 critically ill patients suffering from major cardiac iatrogenic problems among a total of 2,559 patients admitted to the intensive cardiac care unit during 3 years.", "Iatrogenic disease was defined as adverse drug reactions according to the World Health Organization Definition and complications induced by non-drug medical interventions.", "Iatrogenic illness, defined as a disease that results from a diagnostic procedure or from any form of therapy, is a well-recognized phenomenon in clinical practice.", "Iatrogenic illness was defined as any problem that resulted from therapy.", "An iatrogenic event was defined as \"an adverse event related to a medical procedure\".", "Patients with colorectal cancer who had splenectomy as a result of iatrogenic damage of the spleen while undergoing resection of the sigmoid or rectum for adenocarcinoma had a significantly worse prognosis.", "Intraoperative aortic dissection remains a rare and unpredictable complication of cardiac surgery, with worse outcomes than spontaneous aortic dissection. Increased age and atheromatous disease at the site of cannulation are significant risk factors for iatrogenic dissection. In this series, off-pump coronary artery bypass did not appear to be a risk factor for iatrogenic aortic dissection", " Iatrogenic injury to the spleen is not an uncommon complication. Left nephrectomy has been reported as the second commonest cause of iatrogenic splenectomy with a reported incidence between 1.3 and 24%. Iatrogenic splenectomy is associated with significant morbidity and mortality.AIMS: We reviewed the occurrence of iatrogenic splenectomy during left nephrectomy at our centre.", "Hallux valgus is a common forefoot pathology often requiring surgical intervention for symptomatic relief. One complication of hallux valgus correction is flexible hallux varus. Iatrogenic flexible hallux varus often requires surgical repair; however, the most advantageous surgical procedure for repair of iatrogenic flexible hallux varus and their sustainability remains unclear", "The possible interrelationship between such deposition and cranial irradiation and/or i.t. MTX suggests a new iatrogenic disorder.", " report of a patient with granulomatous peritonitis following general surgery is presented. Laparoscopy was performed as the final diagnostic procedure. Prevention is the remedy for this iatrogenic problem.", "This report reviews both the medical and surgical literature during the past 15 years of patients treated for pseudomembranous colitis. Analysis of this clinical data has provided us with the opportunity to both define the role of surgery in this disorder and illustrate the necessity for a combined medical and surgical cooperative approach in the early management of this iatrogenic disease.", "Iatrogenic problems following gastric surgery.", "difficult to truly define iatrogenic complications in the postsurgical state in that the surgery is a condition originated by physician intervention and thus any problems that occur may be technically considered as physician created", "he most severe iatrogenic events were nosocomial infections (49/62 [79%]) and respiratory events (nine of 26 [35%]). Cutaneous injuries were frequent (n=94) but generally minor (89 [95%]), as were medication errors (15/19 [76%]). Most medication errors occurred during administration stage (12/19 [63%]) and were ten-fold errors (nine of 19 [47%]). The major risk factors were low birthweight and gestational age (both p<0.0001), length of stay (p<0.0001), a central venous line (p<0.0001), mechanical ventilation (p=0.0021), and support with continuous positive airwary pressure" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21610562", "http://www.ncbi.nlm.nih.gov/pubmed/26767158", "http://www.ncbi.nlm.nih.gov/pubmed/10979347", "http://www.ncbi.nlm.nih.gov/pubmed/25660151", "http://www.ncbi.nlm.nih.gov/pubmed/19063792", "http://www.ncbi.nlm.nih.gov/pubmed/2173098", "http://www.ncbi.nlm.nih.gov/pubmed/8133999", "http://www.ncbi.nlm.nih.gov/pubmed/17091219", "http://www.ncbi.nlm.nih.gov/pubmed/8642152", "http://www.ncbi.nlm.nih.gov/pubmed/8608668", "http://www.ncbi.nlm.nih.gov/pubmed/18176826", "http://www.ncbi.nlm.nih.gov/pubmed/18242414", "http://www.ncbi.nlm.nih.gov/pubmed/3961454", "http://www.ncbi.nlm.nih.gov/pubmed/2534534", "http://www.ncbi.nlm.nih.gov/pubmed/25600788", "http://www.ncbi.nlm.nih.gov/pubmed/24719163", "http://www.ncbi.nlm.nih.gov/pubmed/22197283", "http://www.ncbi.nlm.nih.gov/pubmed/12561154", "http://www.ncbi.nlm.nih.gov/pubmed/17497458", "http://www.ncbi.nlm.nih.gov/pubmed/21481093", "http://www.ncbi.nlm.nih.gov/pubmed/2240392", "http://www.ncbi.nlm.nih.gov/pubmed/355046", "http://www.ncbi.nlm.nih.gov/pubmed/17470323", "http://www.ncbi.nlm.nih.gov/pubmed/8420729", "http://www.ncbi.nlm.nih.gov/pubmed/26386902", "http://www.ncbi.nlm.nih.gov/pubmed/20650043", "http://www.ncbi.nlm.nih.gov/pubmed/133304" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007049" ]

[ "Schwann cells and melanocytes originate from the multipotent population of neural crest cells." ]

[ "neural crest cells", "NCC" ]

[ "The development of the nervous system involves cells remaining within the neural tube (CNS) and a group of cells that delaminate from the dorsal neural tube and migrate extensively throughout the developing embryo called neural crest cells (NCC). These cells are a mesenchymal highly migratory group of cells that give rise to a wide variety of cell derivatives: melanocytes, sensory neurons, bone, Schwann cells, etc. ", "Cell types with neural crest ancestry consequently comprise a number of specialized varieties, such as ectodermal neurons, melanocytes and Schwann cells, as well as mesodermal osteoblasts, adipocytes and smooth muscle cells. ", "Melanocytes, the pigmented cells of the skin, and the glial Schwann cells lining peripheral nerves are developmentally derived from an early and transient ectodermal structure of the vertebrate embryo, the neural crest, which is also at the origin of multiple neural and non-neural cell types. ", "Later, SoxE proteins drive the formation of multiple neural crest derivatives including chondrocytes, melanocytes, and cells of the peripheral nervous system, particularly Schwann cells/peripheral glia. ", "Melanocytes and Schwann cells are derived from the multipotent population of neural crest cells.", "The present results suggest that the induced hamster melanomas originate from neural crest-derived cells which are able to differentiate into both melanocytes and Schwann cells.", "Melanocytes and Schwann cells both arise from the neural crest during development, and some melanocytes arise directly from Schwann cell precursors lining developing spinal nerves", "Schwann cells, the myelinating glia of the peripheral nervous system (PNS), originate from multipotent neural crest cells that also give rise to other cells, including neurons, melanocytes, chondrocytes, and smooth muscle cells", "In the vertebrate embryo, Schwann cells lining the peripheral nerves originate from the neural crest (NC), a structure that also gives rise to ganglion satellite cells, most of the neurons of the peripheral nervous system, melanocytes, and part of the cranial mesenchyme", "The present results suggest that the induced hamster melanomas originate from neural crest-derived cells which are able to differentiate into both melanocytes and Schwann cells", "Thus, the nevus cells shared a common nature with epidermal melanocytes and Schwann cells which originate from the neural crest; however, the former cells were somewhat different from the latter two kinds and from benign and malignant tumors derived from these cells in the expression of these antigenic substances", "Melanocytes, the pigmented cells of the skin, and the glial Schwann cells lining peripheral nerves are developmentally derived from an early and transient ectodermal structure of the vertebrate embryo, the neural crest, which is also at the origin of multiple neural and non-neural cell types", "Furthermore, although both populations are initially part of the Foxd3 lineage, hypaxial melanocytes lose Foxd3 at late stages upon separation from the nerve, whereas we recently found that epaxial melanocytes segregate earlier from Foxd3-positive neural progenitors while still residing in the dorsal neural tube. ", "Reversal of developmental restrictions in neural crest lineages: transition from Schwann cells to glial-melanocytic precursors in vitro.", "Schwann cells, the myelinating glia of the peripheral nervous system (PNS), originate from multipotent neural crest cells that also give rise to other cells, including neurons, melanocytes, chondrocytes, and smooth muscle cells.", "In the vertebrate embryo, Schwann cells lining the peripheral nerves originate from the neural crest (NC), a structure that also gives rise to ganglion satellite cells, most of the neurons of the peripheral nervous system, melanocytes, and part of the cranial mesenchyme.", "Thus, the nevus cells shared a common nature with epidermal melanocytes and Schwann cells which originate from the neural crest; however, the former cells were somewhat different from the latter two kinds and from benign and malignant tumors derived from these cells in the expression of these antigenic substances.", "Other already committed cells are the angioblasts forming the endothelial lining of the blood vessels, the neural crest cells differentiating into melanocytes and Schwann cells, and the blood-derived cells like chrondro- or osteoclasts.", "The dorsal neural tube first generates neural crest cells that exit the neural primordium following an epithelial-to-mesenchymal conversion to become sympathetic ganglia, Schwann cells, dorsal root sensory ganglia, and melanocytes of the skin.", "We show here that neural crest cells arising from the neural tube located at the level of somites 47-53 can differentiate both in vitro and in vivo into melanocytes and Schwann cells but not into neurons.", "This capacity may be due to the common origin of Schwann cells and melanocytes in the neural crest.", "Melanocytes and Schwann cells both arise from the neural crest during development, and some melanocytes arise directly from Schwann cell precursors lining developing spinal nerves.", "In the vertebrate embryo, multiple cell types originate from a common structure, the neural crest (NC), which forms at the dorsal tips of the neural epithelium." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24760871", "http://www.ncbi.nlm.nih.gov/pubmed/17652534", "http://www.ncbi.nlm.nih.gov/pubmed/21501576", "http://www.ncbi.nlm.nih.gov/pubmed/8834474", "http://www.ncbi.nlm.nih.gov/pubmed/23858437", "http://www.ncbi.nlm.nih.gov/pubmed/9142492", "http://www.ncbi.nlm.nih.gov/pubmed/12702775", "http://www.ncbi.nlm.nih.gov/pubmed/23347447", "http://www.ncbi.nlm.nih.gov/pubmed/7684712", "http://www.ncbi.nlm.nih.gov/pubmed/8320168", "http://www.ncbi.nlm.nih.gov/pubmed/17631447", "http://www.ncbi.nlm.nih.gov/pubmed/10885676", "http://www.ncbi.nlm.nih.gov/pubmed/25805416", "http://www.ncbi.nlm.nih.gov/pubmed/20454996", "http://www.ncbi.nlm.nih.gov/pubmed/8269857", "http://www.ncbi.nlm.nih.gov/pubmed/10906452", "http://www.ncbi.nlm.nih.gov/pubmed/19931641", "http://www.ncbi.nlm.nih.gov/pubmed/20683859", "http://www.ncbi.nlm.nih.gov/pubmed/18636017", "http://www.ncbi.nlm.nih.gov/pubmed/1504451", "http://www.ncbi.nlm.nih.gov/pubmed/3085152", "http://www.ncbi.nlm.nih.gov/pubmed/22170630", "http://www.ncbi.nlm.nih.gov/pubmed/1967835", "http://www.ncbi.nlm.nih.gov/pubmed/9247201", "http://www.ncbi.nlm.nih.gov/pubmed/3425403", "http://www.ncbi.nlm.nih.gov/pubmed/14576682", "http://www.ncbi.nlm.nih.gov/pubmed/25752517", "http://www.ncbi.nlm.nih.gov/pubmed/2685414", "http://www.ncbi.nlm.nih.gov/pubmed/6517351", "http://www.ncbi.nlm.nih.gov/pubmed/23815504" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008544", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012583", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D039904", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D039902" ]

[ "Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome." ]

[ "Gordon syndrome", "distal arthrogryposis type 5", "Marden-Walker syndrome" ]

[ "Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome.", "Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.", "Both types of changes in kinetics result in increased channel activity in response to a given mechanical stimulus, suggesting that Distal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2.", "Here, we describe two distinct PIEZO2 mutations in patients with a subtype of Distal Arthrogryposis Type 5 characterized by generalized autosomal dominant contractures with limited eye movements, restrictive lung disease, and variable absence of cruciate knee ligaments.", "Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2).", "In contrast, heterozygous gain-of-function missense mutations, mainly localized at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or Marden-Walker syndrome (MWKS), which encompass contractures of hands and feet, scoliosis, ophthalmoplegia, and ptosis.", "Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause different forms of distal arthrogryposi" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24726473", "http://www.ncbi.nlm.nih.gov/pubmed/27843126", "http://www.ncbi.nlm.nih.gov/pubmed/27714920", "http://www.ncbi.nlm.nih.gov/pubmed/23487782" ]

[]

[ "http://www.uniprot.org/uniprot/PIEZ2_HUMAN" ]

[ "Treatment with SAMe, as well as with various formulations of folates and analogues, appears to be efficacious and well tolerated in reducing depressive symptoms in treatment resistant depression." ]

[ "yes" ]

[ "Suboptimal serum and red blood cell folate levels have been associated with a poorer response to antidepressant therapy, a greater severity of symptoms, later onset of clinical improvement, and overall treatment resistance. This article reviews the evidence for L-methylfolate and folic acid as antidepressive agents in depression and discusses their clinical use", "Although further randomized controlled trials in this area appear warranted, SAMe and L-methylfolate may represent a useful addition to the AD armamentarium.", "Patients with depression have consistently been found to have lower levels of serum and red blood cell folate than normal or nondepressed psychiatric patients. Decreased folate levels have been associated with lowered response rates to standard antidepressant pharmacotherapy. Recent studies have shown that augmentation with a folate supplement increases medication response in both treatment-naïve and treatment-resistant depressed patients irrespective of whether there is folate deficiency.", "Depressed patients with both low and normal folate levels may benefit from augmenting a primary antidepressant medication either initially, at the onset of treatment, or later after some degree of treatment resistance has been recognized.", "The results of this study suggest that intake of vitamin B9 may modulate the total score of Center for Epidemiological Studies Depression Scale (CES-D) and two subscales of the CES-D including depressive affect and interpersonal difficulties.", "The results of this study suggest that intake of vitamin B9 may modulate the total score of Center for Epidemiological Studies Depression Scale (CES-D) and two subscales of the CES-D including depressive affect and interpersonal difficulties. ", "This article reviews the metabolic and clinical importance of folate, vitamin B12, and SAMe, as well as clinical trials in relation to depression and dementia", "In particular, vitamins B1, B3, B6, B9 and B12 are essential for neuronal function and deficiencies have been linked to depression." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25229175", "http://www.ncbi.nlm.nih.gov/pubmed/22762295", "http://www.ncbi.nlm.nih.gov/pubmed/27655070", "http://www.ncbi.nlm.nih.gov/pubmed/24324965", "http://www.ncbi.nlm.nih.gov/pubmed/23538072", "http://www.ncbi.nlm.nih.gov/pubmed/24519190", "http://www.ncbi.nlm.nih.gov/pubmed/18370582" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003863", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061218", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003865" ]

[ "Slitrk1 is enriched in postsynaptic fractions and is localized to excitatory synapses. " ]

[]

[ "Slitrk1 is localized to excitatory synapses", " Slitrk1 is enriched in postsynaptic fractions and is localized to excitatory synapses.", " The porcine SLITRK1 gene is expressed exclusively in brain tissues.", "Six family members exist (Slitrk1-6) and all are highly expressed in the central nervous system (CNS)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25379384", "http://www.ncbi.nlm.nih.gov/pubmed/21315458", "http://www.ncbi.nlm.nih.gov/pubmed/22703893", "http://www.ncbi.nlm.nih.gov/pubmed/27273464" ]

[]

[]

[ "Harlequin syndrome is characterized by the sudden onset of unilateral facial flushing and sweating, often preceded by exercise, excessive heat, or, rarely, regional anesthesia. It is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation." ]

[]

[ "Harlequin syndrome is characterized by the sudden onset of unilateral facial flushing and sweating, often preceded by exercise, excessive heat, or, rarely, regional anesthesia. ", "UNLABELLED: Harlequin syndrome (HS) is a rare autonomic disorder due to a hemifacial cutaneous sympathetic denervation. It is characterized by unilateral diminished sweating and flushing of the face even though after heat or prolonged exercise. ", "OBSERVATION: A 38-year-old melanoderm man, without any history of surgery or neck trauma, consulted for a strictly right unilateral facial hyperhidrosis. ", "Harlequin syndrome (HS) is a rare disorder of the sympathetic nervous system which presents with unilateral decreased sweating and flushing of the face, neck, and chest in response to heat, exercise, or emotional factors", "A 42-year-old woman had symptoms of unilateral flushing and sweating of her face during exercise. The clinical diagnosis was 'harlequin syndrome'. ", "Harlequin sign and harlequin syndrome, which are used interchangeably in the literature, are characterized by sudden onset of hemifacial sweating and flushing, induced by exercise and heat.", "Harlequin syndrome is a rare, clinically striking syndrome characterized by distinctly demarcated asymmetric facial flushing and sweating.", "Harlequin sign and harlequin syndrome, which are used interchangeably in the literature, are characterized by sudden onset of hemifacial sweating and flushing, induced by exercise and heat", "Harlequin sign (hemifacial flushing and contralateral hypohidrosis) in a 4-year-old girl with Horner syndrome", "She also exhibited left hemifacial flushing and loss of sweating on the contralateral side (harlequin sign)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9555141", "http://www.ncbi.nlm.nih.gov/pubmed/18769278", "http://www.ncbi.nlm.nih.gov/pubmed/16918633", "http://www.ncbi.nlm.nih.gov/pubmed/21796071", "http://www.ncbi.nlm.nih.gov/pubmed/23726525", "http://www.ncbi.nlm.nih.gov/pubmed/8292878", "http://www.ncbi.nlm.nih.gov/pubmed/26513674", "http://www.ncbi.nlm.nih.gov/pubmed/25923501", "http://www.ncbi.nlm.nih.gov/pubmed/9219751", "http://www.ncbi.nlm.nih.gov/pubmed/22638078", "http://www.ncbi.nlm.nih.gov/pubmed/26964837", "http://www.ncbi.nlm.nih.gov/pubmed/26943985", "http://www.ncbi.nlm.nih.gov/pubmed/2331828", "http://www.ncbi.nlm.nih.gov/pubmed/17569597", "http://www.ncbi.nlm.nih.gov/pubmed/27024906", "http://www.ncbi.nlm.nih.gov/pubmed/25933078", "http://www.ncbi.nlm.nih.gov/pubmed/8250530", "http://www.ncbi.nlm.nih.gov/pubmed/24882829" ]

[]

[]

[ "The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) is a protein complex involved in the ubiquitin proteasome system and plays a role in regulating the degradation of polyubiquitinated proteins. The mammalian CSN is also involved in embryonic development, in cancer and the DNA damage response, whereas in plants CSN plays a role in innate immunity." ]

[]

[ "The family of cullin-RING E3 Ligases (CRLs) and the constitutive photomorphogenesis 9 (COP9) signalosome (CSN) form dynamic complexes that mediate ubiquitylation of 20% of the proteome, yet regulation of their assembly/disassembly remains poorly understood. ", "The COP9 (constitutive photomorphogenesis 9) signalosome (CSN) is a protein complex involved in the ubiquitin proteasome system and a common host target of diverse pathogens in Arabidopsis. ", "The COP9 (Constitutive photomorphogenesis 9) signalosome (CSN), a large multiprotein complex that resembles the 19S lid of the 26S proteasome, plays a central role in the regulation of the E3-cullin RING ubiquitin ligases (CRLs).", "The mammalian constitutive photomorphogenesis 9 (COP9) signalosome (CSN), a protein complex involved in embryonic development, is implicated in cell cycle regulation and the DNA damage response. Its role in tumor development, however, remains unclear.", "COP9 plays a role in plant innate immunity. ", "The constitutive photomorphogenesis 9 signalosome (COP9 or CSN) is an evolutionarily conserved multiprotein complex found in plants and animals. Because of the homology between the COP9 signalosome and the 19S lid complex of the proteosome, COP9 has been postulated to play a role in regulating the degradation of polyubiquitinated proteins. ", "Therefore, it is conceivable that COP9 plays a significant role in cancer, regulating processes relevant to carcinogenesis and cancer progression (e.g., cell cycle control, signal transduction and apoptosis). ", "The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) plays key roles in many biological processes, such as repression of photomorphogenesis in plants and protein subcellular localization, DNA-damage response, and NF-κB activation in mammals.", "The COP9 (constitutive photomorphogenesis mutant 9) signalosome (CSN) may regulate the UPS, but this has not been tested in a critical vertebrate organ.", "The mammalian constitutive photomorphogenesis 9 (COP9) signalosome (CSN), a protein complex involved in embryonic development, is implicated in cell cycle regulation and the DNA damage response.", "Here we show that the production of vascular endothelial growth factor (VEGF) in HeLa and HL-60 cells is directed by the constitutive photomorphogenesis 9 signalosome (CSN).", "The family of cullin-RING E3 Ligases (CRLs) and the constitutive photomorphogenesis 9 (COP9) signalosome (CSN) form dynamic complexes that mediate ubiquitylation of 20% of the proteome, yet regulation of their assembly/disassembly remains poorly understood.", "CSN6 is one subunit of the constitutive photomorphogenesis 9 (COP9) signalosome (CSN), which is an evolutionarily conserved multiprotein complex found in plants and animals and originally described as a repressor of light-dependent growth and transcription in Arabidopsis.", "CSN6, a critical subunit of the constitutive photomorphogenesis 9 (COP9) signalosome (CSN), has received attention as a regulator of the degradation of cancer-related proteins such as p53, c-myc and c-Jun, through the ubiquitin-proteasome system, suggesting its importance in cancerogenesis.", "The COP9 signalosome (CSN) is a complex of eight proteins first identified as a repressor of plant photomorphogenesis.", "COP10 is a ubiquitin-conjugating enzyme variant (UEV), which is thought to act together with COP1, DET1, and the COP9 signalosome (CSN) in Arabidopsis to repress photomorphogenesis.", "The COP9 (constitutive photomorphogenesis mutant 9) signalosome (CSN) may regulate the UPS, but this has not been tested in a critical vertebrate organ.", "The COP9 signalosome (CSN) is an evolutionarily conserved multiprotein complex that mediates the repression of photomorphogenesis in the dark in Arabidopsis through the degradation of transcription factors such as HY5 and HYH.", "The COP9 signalosome (CSN), a suppressor of plant photomorphogenesis, associated with multiple cullins and promoted cleavage of the ubiquitin-like protein NEDD8 from Schizosaccharomyces pombe CUL1 in vivo and in vitro.", "The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) plays key roles in many biological processes, such as repression of photomorphogenesis in plants and protein subcellular localization, DNA-damage response, and NF-êB activation in mammals.", "Repression of photomorphogenesis in Arabidopsis thaliana requires activity of the COP9 signalosome (CSN), CDD, and COP1 complexes, but how these three complexes work in concert to accomplish this important developmental switch has remained unknown.", "The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) plays key roles in many biological processes, such as repression of photomorphogenesis in plants and protein subcellular localization, DNA-damage response, and NF-κB activation in mammals", "Here we show that the production of vascular endothelial growth factor (VEGF) in HeLa and HL-60 cells is directed by the constitutive photomorphogenesis 9 signalosome (CSN)", "The COP9 (Constitutive photomorphogenesis 9) signalosome (CSN), a large multiprotein complex that resembles the 19S lid of the 26S proteasome, plays a central role in the regulation of the E3-cullin RING ubiquitin ligases (CRLs)", "CSN6 is one subunit of the constitutive photomorphogenesis 9 (COP9) signalosome (CSN), which is an evolutionarily conserved multiprotein complex found in plants and animals and originally described as a repressor of light-dependent growth and transcription in Arabidopsis", "The mammalian constitutive photomorphogenesis 9 (COP9) signalosome (CSN), a protein complex involved in embryonic development, is implicated in cell cycle regulation and the DNA damage response", "The COP9 (constitutive photomorphogenesis mutant 9) signalosome (CSN) may regulate the UPS, but this has not been tested in a critical vertebrate organ", "The COP9 Signalosome (CSN) is a multiprotein complex that was originally identified in Arabidopsis thaliana as a negative regulator of photomorphogenesis and subsequently shown to be a general eukaryotic regulator of developmental signaling", "Repression of photomorphogenesis in Arabidopsis thaliana requires activity of the COP9 signalosome (CSN), CDD, and COP1 complexes, but how these three complexes work in concert to accomplish this important developmental switch has remained unknown", "COP10 is a ubiquitin-conjugating enzyme variant (UEV), which is thought to act together with COP1, DET1, and the COP9 signalosome (CSN) in Arabidopsis to repress photomorphogenesis", "The constitutive photomorphogenesis 9 signalosome directs vascular endothelial growth factor production in tumor cells.", "Here we show that the production of vascular endothelial growth factor (VEGF) in HeLa and HL-60 cells is directed by the constitutive photomorphogenesis 9 signalosome (CSN). ", "The constitutive photomorphogenesis 9 (COP9) signalosome (CSN) plays key roles in many biological processes, such as repression of photomorphogenesis in plants and protein subcellular localization, DNA-damage response, and NF-κB activation in mammals. ", "The COP9 (Constitutive photomorphogenesis 9) signalosome (CSN), a large multiprotein complex that resembles the 19S lid of the 26S proteasome, plays a central role in the regulation of the E3-cullin RING ubiquitin ligases (CRLs). ", "Plant homologue constitutive photomorphogenesis 9 (COP9) signalosome subunit CSN5 regulates innate immune responses in macrophages.", "The COP9 (constitutive photomorphogenesis mutant 9) signalosome (CSN) may regulate the UPS, but this has not been tested in a critical vertebrate organ. ", "The mammalian constitutive photomorphogenesis 9 (COP9) signalosome (CSN), a protein complex involved in embryonic development, is implicated in cell cycle regulation and the DNA damage response. ", "Recent studies indicate that Int6 is a multifaceted protein involved in the regulation of protein translation and degradation through binding with three complexes: the eukaryotic translation initiation factor 3, the proteasome regulatory lid, and the constitutive photomorphogenesis 9 signalosome. ", "The COP9 Signalosome (CSN) is a multiprotein complex that was originally identified in Arabidopsis thaliana as a negative regulator of photomorphogenesis and subsequently shown to be a general eukaryotic regulator of developmental signaling. ", "In this report we demonstrate a JNK-independent activation of c-Jun in vivo directed by the constitutive photomorphogenesis (COP9) signalosome. ", "The COP9 signalosome (CSN) is a multiprotein complex that was initially identified in plants as a repressor of photomorphogenesis.", "This study suggests that AtItpk-1 may function as a protein kinase that is involved in photomorphogenesis possibly via interaction with COP9 signalosome under red light.", "The Arabidopsis inositol 1,3,4-trisphosphate 5/6 kinase, AtItpk-1, is involved in plant photomorphogenesis under red light conditions, possibly via interaction with COP9 signalosome.", "The COP9 (constitutive photomorphogenesis 9) signalosome (CSN) is a protein complex involved in the ubiquitin proteasome system and a common host target of diverse pathogens in Arabidopsis.", "Here we show that the production of vascular endothelial growth factor (VEGF) in HeLa and HL-60 cells is directed by the constitutive photomorphogenesis 9 signalosome (CSN).", "The COP9 (constitutive photomorphogenesis mutant 9) signalosome (CSN) may regulate the UPS, but this has not been tested in a critical vertebrate organ.", "The constitutive photomorphogenesis 9 signalosome directs vascular endothelial growth factor production in tumor cells." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27412572", "http://www.ncbi.nlm.nih.gov/pubmed/18854373", "http://www.ncbi.nlm.nih.gov/pubmed/11731421", "http://www.ncbi.nlm.nih.gov/pubmed/27581057", "http://www.ncbi.nlm.nih.gov/pubmed/23818606", "http://www.ncbi.nlm.nih.gov/pubmed/16844902", "http://www.ncbi.nlm.nih.gov/pubmed/16275352", "http://www.ncbi.nlm.nih.gov/pubmed/21051661", "http://www.ncbi.nlm.nih.gov/pubmed/15342494", "http://www.ncbi.nlm.nih.gov/pubmed/10585392", "http://www.ncbi.nlm.nih.gov/pubmed/12368504", "http://www.ncbi.nlm.nih.gov/pubmed/12324474", "http://www.ncbi.nlm.nih.gov/pubmed/17914096", "http://www.ncbi.nlm.nih.gov/pubmed/26976604", "http://www.ncbi.nlm.nih.gov/pubmed/22956996", "http://www.ncbi.nlm.nih.gov/pubmed/23288897", "http://www.ncbi.nlm.nih.gov/pubmed/11337588", "http://www.ncbi.nlm.nih.gov/pubmed/21403132", "http://www.ncbi.nlm.nih.gov/pubmed/14502989", "http://www.ncbi.nlm.nih.gov/pubmed/27546621", "http://www.ncbi.nlm.nih.gov/pubmed/21317535", "http://www.ncbi.nlm.nih.gov/pubmed/24973710", "http://www.ncbi.nlm.nih.gov/pubmed/27833851", "http://www.ncbi.nlm.nih.gov/pubmed/16310364", "http://www.ncbi.nlm.nih.gov/pubmed/15867213", "http://www.ncbi.nlm.nih.gov/pubmed/24286178", "http://www.ncbi.nlm.nih.gov/pubmed/21876386" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012380", "http://amigo.geneontology.org/amigo/term/GO:0008180" ]

[ "Yes, Adalimumab, a recombinant, fully humanized, anti-tumor necrosis factor alpha (anti-TNF-α) monoclonal antibody, is the only officially approved treatment for the management of moderate-to-severe hidradenitis suppurativa." ]

[ "yes" ]

[ "If patient is not improved, then Adalimumab 160 mg at week 0, 80 mg at week 2; then 40 mg subcutaneously weekly should be administered (LOE Ib, SOR A). If improvement occurs then therapy should be maintained as long as HS lesions are present.", "Reduction in pain scores and improvement in depressive symptoms in patients with hidradenitis suppurativa treated with adalimumab in a phase 2, randomized, placebo-controlled trial.", "Adalimumab treatment for 16 weeks improved HS lesions significantly versus placebo (NCT00918255).", "CONCLUSION: Patients with moderate to severe HS had a high degree of pain and depressive symptoms at baseline. Adalimumabtherapy was associated with decreased pain and depressive symptoms compared to baseline.", "Spotlight on adalimumab in the treatment of active moderate-to-severe hidradenitis suppurativa.", "Adalimumab, a recombinant, fully humanized, anti-tumor necrosis factor alpha (anti-TNF-α) monoclonal antibody, is the only officially approved treatment for the management of moderate-to-severe HS. Case reports, concerning 42 patients who received adalimumab for severe HS (with the standard dose regimen for psoriasis), reported a cumulative response rate of 58% (≥50% in 23 patients) with a relapse rate of 71% (10 out of 14 patients). The most recent and most well-powered phase III, randomized placebo-controlled trials for the evaluation of the efficacy and safety of adalimumab in treatment of moderate-to-severe HS (PIONEER studies I and II) showed that the Hidradenitis Suppurativa Clinical Response (HiSCR) rate at week 12 was significantly higher for patients randomized to adalimumab compared to placebo.", "In conclusion, adalimumab, to date, holds the most robust data regarding treatment efficacy in HS. ", "Adalimumab (Humira) for the Treatment of Hidradenitis Suppurativa.", "Adalimumab (Humira®) is a novel therapy approved by the US Food and Drug Administration, Health Canada, and the European Commission for the treatment of hidradenitis suppurativa (HS).", "Taken together, these data conclude that treatment of HS with adalimumab is a safe and effective therapy resulting in a significant decrease in abscess and inflammatory nodule counts within the first 12 weeks of treatment.", "Effective long-term control of refractory hidradenitis suppurativa with adalimumab after failure of conventional therapy.", "Hidradenitis suppurativa managed with adalimumab.", "Treatment of severe recalcitrant hidradenitis suppurativa with adalimumab.", "Long-term successful adalimumab therapy in severe hidradenitis suppurativa.", "Comparing treatment outcome of infliximab and adalimumab in patients with severe hidradenitis suppurativa.", "HiSCR (Hidradenitis Suppurativa Clinical Response): a novel clinical endpoint to evaluate therapeutic outcomes in patients with hidradenitis suppurativa from the placebo-controlled portion of a phase 2 adalimumab study", "Adalimumab in treatment-resistant hidradenitis suppurativa following recurrence after extensive affected area excision: a review of biologics therapy", "Adalimumab (antitumour necrosis factor-α) treatment of hidradenitis suppurativa ameliorates skin inflammation: an in situ and ex vivo study", "Treatment of severe recalcitrant hidradenitis suppurativa with adalimumab", "In a phase 2 trial, adalimumab, an antibody against tumor necrosis factor α, showed efficacy against hidradenitis suppurativa.PIONEER I and II were similarly designed, phase 3 multicenter trials of adalimumab for hidradenitis suppurativa, with two double-blind, placebo-controlled periods.", "Here we report a case of a patient with severe recalcitrant hidradenitis suppurativa successfully treated with adalimumab.", "Recent reports have demonstrated that adalimumab, a tumor necrosis factor (TNF) antagonist, may be effective in the treatment of patients with HS who have failed conventional therapy.", "Conclusion Adalimumab appears to be an effective and safe treatment for refractory HS.", "Effective long-term control of refractory hidradenitis suppurativa with adalimumab after failure of conventional therapy.", "Hidradenitis suppurativa managed with adalimumab.", "Treatment of severe recalcitrant hidradenitis suppurativa with adalimumab.", "Two Phase 3 Trials of Adalimumab for Hidradenitis Suppurativa.", "Adalimumab treatment for hidradenitis suppurativa associated with Crohn's disease.", "Long-term successful adalimumab therapy in severe hidradenitis suppurativa.", "Conclusion Adalimumab appears to be an effective and safe treatment for refractory HS..", "Comparing treatment outcome of infliximab and adalimumab in patients with severe hidradenitis suppurativa.", "Here we report a case of a patient with severe recalcitrant hidradenitis suppurativa successfully treated with adalimumab..", "Adalimumab is suitable for the long-term treatment of hidradenitis suppurativa and presents a further conservative treatment approach..", "HiSCR (Hidradenitis Suppurativa Clinical Response): a novel clinical endpoint to evaluate therapeutic outcomes in patients with hidradenitis suppurativa from the placebo-controlled portion of a phase 2 adalimumab study.", "Spotlight on adalimumab in the treatment of active moderate-to-severe hidradenitis suppurativa." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25580790", "http://www.ncbi.nlm.nih.gov/pubmed/26470624", "http://www.ncbi.nlm.nih.gov/pubmed/26201313", "http://www.ncbi.nlm.nih.gov/pubmed/26831295", "http://www.ncbi.nlm.nih.gov/pubmed/18754844", "http://www.ncbi.nlm.nih.gov/pubmed/27665300", "http://www.ncbi.nlm.nih.gov/pubmed/23670060", "http://www.ncbi.nlm.nih.gov/pubmed/25040429", "http://www.ncbi.nlm.nih.gov/pubmed/21091684", "http://www.ncbi.nlm.nih.gov/pubmed/21756155", "http://www.ncbi.nlm.nih.gov/pubmed/24144253", "http://www.ncbi.nlm.nih.gov/pubmed/19997689", "http://www.ncbi.nlm.nih.gov/pubmed/26801356", "http://www.ncbi.nlm.nih.gov/pubmed/19371236", "http://www.ncbi.nlm.nih.gov/pubmed/20652119", "http://www.ncbi.nlm.nih.gov/pubmed/27799806", "http://www.ncbi.nlm.nih.gov/pubmed/23247938", "http://www.ncbi.nlm.nih.gov/pubmed/23106519", "http://www.ncbi.nlm.nih.gov/pubmed/20628295", "http://www.ncbi.nlm.nih.gov/pubmed/19213236", "http://www.ncbi.nlm.nih.gov/pubmed/22644772", "http://www.ncbi.nlm.nih.gov/pubmed/27136622", "http://www.ncbi.nlm.nih.gov/pubmed/22013960", "http://www.ncbi.nlm.nih.gov/pubmed/19451504", "http://www.ncbi.nlm.nih.gov/pubmed/21457202", "http://www.ncbi.nlm.nih.gov/pubmed/21128923", "http://www.ncbi.nlm.nih.gov/pubmed/27518661", "http://www.ncbi.nlm.nih.gov/pubmed/27388530" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:2280", "http://www.biosemantics.org/jochem#4002010", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000068879", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017497" ]

[ "Legg-Calve-Perthes disease is idiopathic avascular necrosis of the hip, usually occurring in pediatric populations.", "Legg-Calvé-Perthes' (Perthes') disease is a developmental disease of the hip joint that may result in numerous short and long term problems. Legg-Calve-Perthes disease (LCPD) is the insidious onset of idiopathic avascular necrosis of the hip in the pediatric population." ]

[]

[ "Legg-Calvé-Perthes' (Perthes') disease is a developmental disease of the hip joint that may result in numerous short and long term problems. The etiology of the disease remains largely unknown, but the me", "Legg-Calve-Perthes disease (LCPD) is the insidious onset of idiopathic avascular necrosis of the hip in the pediatric population. The disease encompasses a wide spectrum of pathology, from mild with no long-term sequelae to severe with permanent degenerative change of the hip joint.", "BACKGROUND: Legg-Perthes disease is associated with ischemia of the capital femoral epiphysis in children.", "Legg-Calvé-Perthes disease is a pediatric disorder characterized by osteonecrosis of the proximal femoral epiphysis", "Legg-Calvé-Perthes disease is characterized by avascular necrosis of the head of the femur.", "Legg-Calvé-Perthes disease is a childhood hip disorder that may result in a deformed and poorly functioning hip." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27064472", "http://www.ncbi.nlm.nih.gov/pubmed/26780125", "http://www.ncbi.nlm.nih.gov/pubmed/12208918", "http://www.ncbi.nlm.nih.gov/pubmed/21606991", "http://www.ncbi.nlm.nih.gov/pubmed/20048104" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:14415", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007873" ]

[ "ERAP1-ERAP2 dimerization increases peptide-trimming efficiency.", "ERAP1-ERAP2 dimerization increases peptide-trimming efficiency. ERAP1-ERAP2 heterodimers produce several mature epitopes more efficiently than a mix of the two enzymes unable to dimerize. Physical interaction with ERAP2 changes basic enzymatic parameters of ERAP1 and improves its substrate-binding affinity. Thus, by bringing the two enzymes in proximity and by producing allosteric effects on ERAP1, dimerization of ERAP1/2 creates complexes with superior peptide-trimming efficacy. Such complexes are likely to enhance Ag presentation by cells displaying coordinated expression of the two enzymes.", "The endoplasmic reticulum aminopeptidases (ERAP)1 and ERAP2 play a critical role in the production of final epitopes presented by MHC class I molecules." ]

[]

[ "ERAP1-ERAP2 dimerization increases peptide-trimming efficiency.", "In this study, we produced stabilized ERAP1-ERAP2 heterodimers and found that they produced several mature epitopes more efficiently than a mix of the two enzymes unable to dimerize. Physical interaction with ERAP2 changes basic enzymatic parameters of ERAP1 and improves its substrate-binding affinity. Thus, by bringing the two enzymes in proximity and by producing allosteric effects on ERAP1, dimerization of ERAP1/2 creates complexes with superior peptide-trimming efficacy. Such complexes are likely to enhance Ag presentation by cells displaying coordinated expression of the two enzymes.", "In this study, we produced stabilized ERAP1-ERAP2 heterodimers and found that they produced several mature epitopes more efficiently than a mix of the two enzymes unable to dimerize.", "Formation of heterodimers by ERAP1 and ERAP2 has been proposed to facilitate trimming of epitope precursor peptides, but the effects of dimerization on ERAP function remain unknown.", "ERAP1-ERAP2 dimerization increases peptide-trimming efficiency", "In this study, we produced stabilized ERAP1-ERAP2 heterodimers and found that they produced several mature epitopes more efficiently than a mix of the two enzymes unable to dimerize. ", "In this study, we produced stabilized ERAP1-ERAP2 heterodimers and found that they produced several mature epitopes more efficiently than a mix of the two enzymes unable to dimerize.", "ERAP1-ERAP2 dimerization increases peptide-trimming efficiency." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24928998" ]

[]

[ "http://www.uniprot.org/uniprot/ERAP1_RAT", "http://www.uniprot.org/uniprot/ERAP1_HUMAN", "http://www.uniprot.org/uniprot/ERAP2_PONAB", "http://www.uniprot.org/uniprot/ERAP2_HUMAN", "http://www.uniprot.org/uniprot/ERAP2_BOVIN", "http://www.uniprot.org/uniprot/ERAP1_MOUSE" ]

[ "Plantar fascia (PF) disorders like plantar fasciitis commonly cause heel pain and disability and are thought to be degenerative rather than inflammatory in nature" ]

[ "heel pain" ]

[ "Plantar fascia (PF) disorders commonly cause heel pain and disability", "Plantar fasciitis (PF) is a common foot complaint, affects both active sportsmen and physically inactive middle age group. It is believed that PF results from degenerative changes rather than inflammation", "Plantar fasciitis (PF) is present in 10% of the population and is the most common cause of plantar heel pain", "Plantar fasciitis, a chronic degenerative process that causes medial plantar heel pain, is responsible for approximately 1 million physician visits each year", "Plantar fasciitis (PF)is the most common cause of plantar heel pain", "Plantar fasciitis is the most common cause of heel pain and is estimated to affect 2 million people in the United States alone.For adults suffering from plantar fasciitis, are foot orthoses a viable treatment option to reduce pain", "Plantar fasciitis: a degenerative process (fasciosis) without inflammation.", "BACKGROUND: Plantar fasciitis is a common foot disorder that impacts many functional activities.", "The second purpose was to determine whether chronic plantar fasciitis is accompanied by atrophy of plantar intrinsic foot muscles and tibialis posterior.METHODS: Magnetic resonance images were taken bilaterally in eight subjects with unilateral plantar fasciitis.", "Plantar fasciitis, a common injury in runners, has been speculated to be associated with weakness of the intrinsic foot muscles", "Although plantar fasciitis is the most common cause of heel pain,", "Plantar fasciitis, a self-limiting condition, is a common cause of heel pain in adults. It affects more than 1 million persons per year, and two-thirds of patients with plantar fasciitis will seek care from their family physician", "Plantar fasciitis is a common cause of heel pain and is the result of a degenerative process of the plantar fascia at its calcaneal attachment." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26655866", "http://www.ncbi.nlm.nih.gov/pubmed/26184993", "http://www.ncbi.nlm.nih.gov/pubmed/26665894", "http://www.ncbi.nlm.nih.gov/pubmed/25429080", "http://www.ncbi.nlm.nih.gov/pubmed/23037146", "http://www.ncbi.nlm.nih.gov/pubmed/21272731", "http://www.ncbi.nlm.nih.gov/pubmed/15134611", "http://www.ncbi.nlm.nih.gov/pubmed/21916393", "http://www.ncbi.nlm.nih.gov/pubmed/22166747", "http://www.ncbi.nlm.nih.gov/pubmed/27904584", "http://www.ncbi.nlm.nih.gov/pubmed/12756315", "http://www.ncbi.nlm.nih.gov/pubmed/27957702" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005208", "http://www.disease-ontology.org/api/metadata/DOID:9598", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D036981", "http://www.disease-ontology.org/api/metadata/DOID:9600" ]

[ "OTULIN is a deubiquitinase, that specifically cleaves Met1-linked polyUb." ]

[ "deubiquitination" ]

[ "deubiquitinase OTULIN", "OTULIN (FAM105B), encoding a deubiquitinase ", " Otulin/Gumby/FAM105b are by far the most active DUBs acting on these precursors.", "Removal of ubiquitin chains is mediated by deubiquitinases (DUBs). Two of them, OTULIN and CYLD, ", " are disassembled by the linear ubiquitin-specific deubiquitinase OTULIN", "deubiquitinases CYLD and OTULIN", "We recently discovered OTULIN as a deubiquitinase that specifically cleaves Met1-linked polyUb", "deubiquitinase OTULIN specifically disassembles Met1-Ub.", " Our data suggest that OTULIN regulates Met1-polyUb signaling.", "OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26503766", "http://www.ncbi.nlm.nih.gov/pubmed/23746843", "http://www.ncbi.nlm.nih.gov/pubmed/24461064", "http://www.ncbi.nlm.nih.gov/pubmed/24726327", "http://www.ncbi.nlm.nih.gov/pubmed/26235645", "http://www.ncbi.nlm.nih.gov/pubmed/26085216", "http://www.ncbi.nlm.nih.gov/pubmed/23806334", "http://www.ncbi.nlm.nih.gov/pubmed/24726323", "http://www.ncbi.nlm.nih.gov/pubmed/27559085" ]

[]

[]

[ "UBQLN2 acts with the HSP70-HSP110 disaggregase machinery to clear protein aggregates via the 26S proteasome. UBQLN2 recognizes client-bound HSP70 and links it to the proteasome to allow for the degradation of aggregated and misfolded proteins. We further show that this process is active in the cell nucleus, where another system for aggregate clearance, autophagy, does not act." ]

[ "ALS", "amyotrophic lateral sclerosis", "PD", "Parkinson's disease", "AD", "Alzheimer's disease", "Prions" ]

[ "Therapeutic agents are urgently required to cure several common and fatal neurodegenerative disorders caused by protein misfolding and aggregation, including amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), and Alzheimer's disease (AD).", "Human Hsp70 Disaggregase Reverses Parkinson's-Linked α-Synuclein Amyloid Fibrils.", "Disaggregases, molecular chaperones that resolubilize protein aggregates.", "The structural basis by which Hsp104 dissolves disordered aggregates and prions is unknown." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27255695", "http://www.ncbi.nlm.nih.gov/pubmed/26312418", "http://www.ncbi.nlm.nih.gov/pubmed/25620563", "http://www.ncbi.nlm.nih.gov/pubmed/26300264" ]

[]

[]

[ "Yes, NEECHAM Confusion Scale can be used for evaluation of postoperative delirium." ]

[ "yes" ]

[ "Sampling was achieved in a nonrandomized targeted manner and delirium was assessed using NeeCham questionnaire. ", "Delirium in older patients: a diagnostic study of NEECHAM Confusion Scale in surgical intensive care unit.", "AIMS AND OBJECTIVES: To estimate the diagnostic value and determine the feasibility of the NEECHAM Confusion Scale on critically ill older patients.", "CONCLUSIONS: Findings from this study confirm the good diagnostic value and ease of application of the NEECHAM scale with nonventilated intensive care patients.RELEVANCE TO CLINICAL PRACTICE: The NEECHAM scale can be used to detect delirium during the routine nursing assessment of nonintubated older patients as it requires minimal demand and stress on the patient as well as on the bedside nurse.", "The NEECHAM Confusion Scale and the validated chart review instrument were used for diagnosis of delirium. ", "Among the various screening instruments, NEECHAM confusion scale and delirium observation scale appear to be most suitable screening instrument for patients' in general medical and surgical wards, depending on the type of rater (physician or nurse). ", "Use of NEECHAM scaling enabled medical staff to identify cases of possible confusion early, indicating that the NEECHAM confusion scale should be useful for the detection of postoperative delirium and confusion in the surgical ward.", "Early detection of postoperative delirium and confusion in a surgical ward using the NEECHAM confusion scale.", "In this study, we investigated whether the early detection of postoperative delirium in elderly patients is possible using a simple, useful behavior-assessing scale, the NEECHAM Confusion Scale, and a method for comprehensively evaluating elderly persons' stress related to surgery, E-PASS.", "Assessment of the risk of postoperative delirium in elderly patients using E-PASS and the NEECHAM Confusion Scale.", "The aim of this study was to determine which of the two delirium observation screening scales, the NEECHAM Confusion Scale or the Delirium Observation Screening (DOS) scale, has the best discriminative capacity for diagnosing delirium and which is more practical for daily use by nurses.", "For delirium diagnosis and severity assessment, we used the NEECHAM Confusion Scale.", "Use of NEECHAM scaling enabled medical staff to identify cases of possible confusion early, indicating that the NEECHAM confusion scale should be useful for the detection of postoperative delirium and confusion in the surgical ward.", "The NEECHAM Confusion Scale was performed upon admission and prior to discharge.RESULTS: The incidence of DSM-IV related delirium was 24%.", "A comparison of the CAM-ICU and the NEECHAM Confusion Scale in intensive care delirium assessment: an observational study in non-intubated patients.", "Predictive value and validation of the NEECHAM Confusion Scale using DSM-IV criteria for delirium as gold standard.", "Early detection of postoperative delirium and confusion in a surgical ward using the NEECHAM confusion scale", "The aim of this study was to determine which of the two delirium observation screening scales, the NEECHAM Confusion Scale or the Delirium Observation Screening (DOS) scale, has the best discriminative capacity for diagnosing delirium and which is more practical for daily use by nurses.The project was conducted on four wards of a university hospital; 87 patients were included", "In addition, we scored the participants on the NEECHAM Scale and evaluated their postoperative delirium and postoperative arrhythmia.On the nights of Days 4 and 5, the amount of activity of the exposure group was significantly lower and The sympathetic nervous index was significantly lower on the night of Day 5", "In this study, we investigated whether the early detection of postoperative delirium in elderly patients is possible using a simple, useful behavior-assessing scale, the NEECHAM Confusion Scale, and a method for comprehensively evaluating elderly persons' stress related to surgery, E-PASS. ", "The cut-off value of the NEECHAM score was established as 20 points, and patients showing values less than this after surgery were regarded as having postoperative delirium. ", "Identification of delirium was based on evaluation of the level of consciousness with the NEECHAM Confusion Scale and/or a chart-based instrument for delirium.", "For delirium diagnosis and severity assessment, we used the NEECHAM Confusion Scale.", "In this study, we investigated whether the early detection of postoperative delirium in elderly patients is possible using a simple, useful behavior-assessing scale, the NEECHAM Confusion Scale, and a method for comprehensively evaluating elderly persons' stress related to surgery, E-PASS.The subjects were 160 patients aged more than 75 years who underwent surgery.", "In this study a nursing screening instrument, the NEECHAM confusion scale, was studied for early recognition of delirium ICU patients.", "The psychometric characteristics and the ease of use of the NEECHAM confusion scale enables ICU nurses to early recognize delirium.", "The trends of the NEECHAM scores in the 3 groups were compared, and the relationship between the NEECHAM scores and suspected clinical risk factors for delirium was investigated.", "In groups showing an MMSE score of less than 25 or a preoperative NEECHAM score of less than 27, the incidence of postoperative delirium was 76%.CONCLUSION: The results suggest that E-PASS and the NEECHAM score facilitate assessment of the risk of postoperative delirium in elderly patients, contributing to early prevention/treatment.", "In this study, we investigated whether the early detection of postoperative delirium in elderly patients is possible using a simple, useful behavior-assessing scale, the NEECHAM Confusion Scale, and a method for comprehensively evaluating elderly persons' stress related to surgery, E-PASS.", "Use of NEECHAM scaling enabled medical staff to identify cases of possible confusion early, indicating that the NEECHAM confusion scale should be useful for the detection of postoperative delirium and confusion in the surgical ward..", "Early detection of postoperative delirium and confusion in a surgical ward using the NEECHAM confusion scale.", "Assessment of the risk of postoperative delirium in elderly patients using E-PASS and the NEECHAM Confusion Scale.", "For delirium diagnosis and severity assessment, we used the NEECHAM Confusion Scale.", "The Neecham Confusion Scale and the Delirium Observation Screening Scale: capacity to discriminate and ease of use in clinical practice.", "The aim of this study was to determine which of the two delirium observation screening scales, the NEECHAM Confusion Scale or the Delirium Observation Screening (DOS) scale, has the best discriminative capacity for diagnosing delirium and which is more practical for daily use by nurses." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24175169", "http://www.ncbi.nlm.nih.gov/pubmed/16732742", "http://www.ncbi.nlm.nih.gov/pubmed/18282269", "http://www.ncbi.nlm.nih.gov/pubmed/25337310", "http://www.ncbi.nlm.nih.gov/pubmed/23121489", "http://www.ncbi.nlm.nih.gov/pubmed/10701282", "http://www.ncbi.nlm.nih.gov/pubmed/19711147", "http://www.ncbi.nlm.nih.gov/pubmed/22441728", "http://www.ncbi.nlm.nih.gov/pubmed/27576903", "http://www.ncbi.nlm.nih.gov/pubmed/21511473", "http://www.ncbi.nlm.nih.gov/pubmed/15077440", "http://www.ncbi.nlm.nih.gov/pubmed/10095647", "http://www.ncbi.nlm.nih.gov/pubmed/21539718", "http://www.ncbi.nlm.nih.gov/pubmed/15038935", "http://www.ncbi.nlm.nih.gov/pubmed/1811781", "http://www.ncbi.nlm.nih.gov/pubmed/11915156", "http://www.ncbi.nlm.nih.gov/pubmed/17394635", "http://www.ncbi.nlm.nih.gov/pubmed/15792498", "http://www.ncbi.nlm.nih.gov/pubmed/24928237", "http://www.ncbi.nlm.nih.gov/pubmed/16351715", "http://www.ncbi.nlm.nih.gov/pubmed/19319925" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D023362", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003693", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000067290", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063189", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011569" ]

[ "Adhesive capsulitis also known as \"frozen shoulder\" is characterized by painful, gradual loss of active and passive shoulder motion resulting from fibrosis and contracture of the joint capsule." ]

[]

[ "Adhesive capsulitis (frozen shoulder) is a common cause of shoulder pain and disability", "Adhesive capsulitis is characterized by painful, gradual loss of active and passive shoulder motion resulting from fibrosis and contracture of the joint capsule.", "Painful stiffening of the shoulder, 'frozen shoulder' is a common cause of shoulder pain and disability.", "Current adhesive capsulitis was defined as restriction of external rotation and one or more additional directional restrictions with history of shoulder pain.", "Adhesive capsulitis is a clinical syndrome of pain and severely decreased joint motion (\"frozen shoulder\") caused by thickening and contraction of the joint capsule and synovium.", "Adhesive capsulitis is, in most cases, a self-limiting condition of poorly understood etiology that results in shoulder pain and large mobility deficits. ", "Adhesive capsulitis of the shoulder is a condition of unknown etiology that results in the development of restriction of active and passive glenohumeral motion.", "Adhesive capsulitis of the shoulder is an idiopathic condition characterized clinically by pain and limitation of movement" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/2702506", "http://www.ncbi.nlm.nih.gov/pubmed/27942856", "http://www.ncbi.nlm.nih.gov/pubmed/25919473", "http://www.ncbi.nlm.nih.gov/pubmed/19011582", "http://www.ncbi.nlm.nih.gov/pubmed/21885699", "http://www.ncbi.nlm.nih.gov/pubmed/19589853", "http://www.ncbi.nlm.nih.gov/pubmed/7754892", "http://www.ncbi.nlm.nih.gov/pubmed/24652474", "http://www.ncbi.nlm.nih.gov/pubmed/24283550", "http://www.ncbi.nlm.nih.gov/pubmed/10890460", "http://www.ncbi.nlm.nih.gov/pubmed/24374758", "http://www.ncbi.nlm.nih.gov/pubmed/24211154", "http://www.ncbi.nlm.nih.gov/pubmed/10738419", "http://www.ncbi.nlm.nih.gov/pubmed/3871127" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:14188" ]

[ "To make the heterogeneous data set accessible and useful for investigators, a web-based database called Semantic catalog of Samples, Transcription initiation And Regulators (SSTAR) has been developed. SSTAR utilizes the open source wiki software MediaWiki along with the Semantic MediaWiki (SMW) extension, which provides flexibility to model, store, and display a series of data sets produced during the course of the FANTOM5 project. The use of SMW demonstrates the utility of the framework for dissemination of large-scale analysis results. SSTAR is a case study in handling biological data generated from a large-scale research project in terms of maintenance and growth alongside research activities" ]

[]

[ "To make the heterogeneous data set accessible and useful for investigators, we developed a web-based database called Semantic catalog of Samples, Transcription initiation And Regulators (SSTAR). SSTAR utilizes the open source wiki software MediaWiki along with the Semantic MediaWiki (SMW) extension, which provides flexibility to model, store, and display a series of data sets produced during the course of the FANTOM5 project. Our use of SMW demonstrates the utility of the framework for dissemination of large-scale analysis results. SSTAR is a case study in handling biological data generated from a large-scale research project in terms of maintenance and growth alongside research activities", "SSTAR utilizes the open source wiki software MediaWiki along with the Semantic MediaWiki (SMW) extension, which provides flexibility to model, store, and display a series of data sets produced during the course of the FANTOM5 project.", "SSTAR utilizes the open source wiki software MediaWiki along with the Semantic MediaWiki (SMW) extension, which provides flexibility to model, store, and display a series of data sets produced during the course of the FANTOM5 project." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27402679" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012660", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059467" ]

[ "Yes, Muenke syndrome is caused by point mutation (C749G) in the Fibroblast Growth Factor Receptor3 (FGFR3) gene. It affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis." ]

[ "yes" ]

[ "RESULTS: Forty-four with a positive FGFR3 mutation, median age 9 years, range 7 months to 52 years were enrolled. In addition, 10 unaffected siblings served as controls (5 males, 5 females; median age, 13 years; range, 3-18 years).", "Muenke is a fibroblast growth factor receptor 3 (FGFR-3)-associated syndrome, which was first described in late 1990 s. ", "The syndrome is defined molecularly by a unique point mutation c.749C>G in exon 7 of the FGFR3 gene which results to an amino acid substitution p.Pro250Arg of the protein product. ", "Muenke syndrome caused by point mutation (C749G) in the FGFR3 gene affects 1 in 30,000 newborns and accounts for 25% to 30% of genetic causes of craniosynostosis.", "Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.", "PURPOSE: There are a number of craniosynostosis syndromes with hearing loss-including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes-that result from mutations in the fibroblast growth factor receptor (FGFR) genes. ", "Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.", "Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.", "To better understand the pathophysiology of the Muenke syndrome, we present collective findings from several recent studies that have characterized a genetically equivalent mouse model for Muenke syndrome (FgfR3 (P244R)) and compare them with human phenotypes.", "We show in this study that knock-in mice harboring the mutation responsible for the Muenke syndrome (FgfR3(P244R)) display postnatal shortening of the cranial base along with synchondrosis growth plate dysfunction characterized by loss of resting, proliferating and hypertrophic chondrocyte zones and decreased Ihh expression.", "Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.", "The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes.", "Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.", "Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.", "The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes.", "PURPOSE: The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.", "The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.", "P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.", "Muenke syndrome caused by the FGFR3 Pro250Arg mutation is associated with craniosynostosis, hearing loss, and various bony anomalies.", "Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene.", "Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans.", "In addition, sensorineural hearing loss is detected in all FgfR3 (P244R) mutant mice as in the majority of Muenke syndrome patients.", "Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼ 21% of cases, but it is likely that further causative mutations remain to be discovered.To identify a shared signature of genetically determined craniosynostosis by comparing the expression patterns in three monogenic syndromes with a control group of patients with non-syndromic sagittal synostosis.Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured", "The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome can be caused by mutation in either FGFR1, FGFR2, or FGFR3", "Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively", "The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes", "Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564)", "In an attempt to delineate functional features separating SCS from Muenkes syndrome, we screened patients presenting with coronal suture synostosis for mutations in the TWIST 1 gene, and for the Pro250Arg mutation in FGFR3", "Since the Gly380Arg achondroplasia mutation was recognized, similar observations regarding the conserved nature of FGFR mutations and resulting phenotype have been made regarding other skeletal phenotypes, including hypochondroplasia, thanatophoric dysplasia, and Muenke coronal craniosynostosis", "Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. ", "The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. ", "P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. ", "METHODS: Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. ", "Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. ", "Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). ", "In spite of a variable phenotype, Muenke syndrome has been related to a unique mutation on the FGFR3 gene, Pro 250 to Arg, which is characteristic of this disease. ", "Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.", "Muenke syndrome is caused by a single defining point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene.", "Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.", "Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3).", "The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17103449", "http://www.ncbi.nlm.nih.gov/pubmed/11571861", "http://www.ncbi.nlm.nih.gov/pubmed/21403557", "http://www.ncbi.nlm.nih.gov/pubmed/22872265", "http://www.ncbi.nlm.nih.gov/pubmed/21233754", "http://www.ncbi.nlm.nih.gov/pubmed/10696568", "http://www.ncbi.nlm.nih.gov/pubmed/14613973", "http://www.ncbi.nlm.nih.gov/pubmed/18818193", "http://www.ncbi.nlm.nih.gov/pubmed/19086028", "http://www.ncbi.nlm.nih.gov/pubmed/24686979", "http://www.ncbi.nlm.nih.gov/pubmed/26740388", "http://www.ncbi.nlm.nih.gov/pubmed/15241680", "http://www.ncbi.nlm.nih.gov/pubmed/26028288", "http://www.ncbi.nlm.nih.gov/pubmed/19215249", "http://www.ncbi.nlm.nih.gov/pubmed/19755431", "http://www.ncbi.nlm.nih.gov/pubmed/24168007", "http://www.ncbi.nlm.nih.gov/pubmed/20592905", "http://www.ncbi.nlm.nih.gov/pubmed/18000976", "http://www.ncbi.nlm.nih.gov/pubmed/23044018", "http://www.ncbi.nlm.nih.gov/pubmed/24448525", "http://www.ncbi.nlm.nih.gov/pubmed/16251895", "http://www.ncbi.nlm.nih.gov/pubmed/24705944", "http://www.ncbi.nlm.nih.gov/pubmed/19449410", "http://www.ncbi.nlm.nih.gov/pubmed/14963686", "http://www.ncbi.nlm.nih.gov/pubmed/17070479", "http://www.ncbi.nlm.nih.gov/pubmed/22446440", "http://www.ncbi.nlm.nih.gov/pubmed/23378035", "http://www.ncbi.nlm.nih.gov/pubmed/22016144", "http://www.ncbi.nlm.nih.gov/pubmed/22544111" ]

[]

[ "http://www.uniprot.org/uniprot/FGFR3_CHICK", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001244", "http://www.disease-ontology.org/api/metadata/DOID:0060703", "http://www.uniprot.org/uniprot/FGFR3_PLEWA", "http://www.uniprot.org/uniprot/FGFR3_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051498" ]

[ "The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer programs. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page.", "The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page." ]

[ "chromDraw" ]

[ "chromDraw: an R package for visualization of linear and circular karyotypes.", "The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix. The output graphics, saved in two different formats (EPS and SVG), can be easily imported to and modified in presentation and image-editing computer programs. The tool is freely distributed under GNU General Public License (GPL) and can be installed from Bioconductor or from the chromDraw home page.", "The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix.", "chromDraw: an R package for visualization of linear and circular karyotypes.", "The chromDraw graphical tool was developed as a user-friendly graphical tool for visualizing both linear and circular karyotypes based on the same input data matrix." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26791998" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059785" ]

[ "smallpox is now eradicated.", "Yes, small pox has been eradicated.", "smallpox is now eradicated", "small pox has been eradicated." ]

[ "yes" ]

[ "small pox has been eradicated.", "smallpox is now eradicated", "In May 1980 the World Health Assembly in Geneva announced in solemn form the world-wide eradication of the small-pox and gave recommendations to the member countries for concluding measures concerning the small-pox vaccination, the foundation of vaccine reserves and the control of the epidemiological situation in the world.", "As a result of vaccination, diseases such as polio and measles have been controlled and small pox has been eradicated", "Small pox eradication from the world is the perfect example of the role of mass vaccination of the entire community of the universe. ", "The French owe a lot to this Central Committee of Vaccine, which greatly contributed to fighting small pox and eradicating the disease finally.", "Small pox eradication from the world is the perfect example of the role of mass vaccination of the entire community of the universe.", "Also, the vaccine that Jenner used, which decreased the prevalence of Small Pox worldwide in his own time, and later was used to eradicate Small Pox altogether, is discussed in light of recent data..", "the only known cases of smallpox happened from an outbreak in Birmingham, England caused by a laboratory accident in the year of 1979. On May the 8 th 1980 the disease was declared as eliminated from the world by the WHO (WHO-Resolution 33.33)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22566811", "http://www.ncbi.nlm.nih.gov/pubmed/11808015", "http://www.ncbi.nlm.nih.gov/pubmed/10742580", "http://www.ncbi.nlm.nih.gov/pubmed/14969309", "http://www.ncbi.nlm.nih.gov/pubmed/23436190", "http://www.ncbi.nlm.nih.gov/pubmed/7013291", "http://www.ncbi.nlm.nih.gov/pubmed/11503361", "http://www.ncbi.nlm.nih.gov/pubmed/22185830" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:8736", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012899", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012900" ]

[ "Akkermansia muciniphila is a Gram-negative mucin-degrading bacterium that resides in the gastrointestinal tracts of humans and animals.", "RYGB led to altered relative abundances of 31 species (P < 0.05, q < 0.15) within the first 3 months, including those of Escherichia coli, Klebsiella pneumoniae, Veillonella spp., Streptococcus spp., Alistipes spp., and Akkermansia muciniphila. Main findings are as follows: (1) gut microbiota compositions of cecal and fecal samples were altered in BTBR compared to control mice, indicating that this model may be of utility in understanding gut-brain interactions in ASD; (2) KD consumption caused an anti-microbial-like effect by significantly decreasing total host bacterial abundance in cecal and fecal matter; (3) specific to BTBR animals, the KD counteracted the common ASD phenotype of a low Firmicutes to Bacteroidetes ratio in both sample types; and (4) the KD reversed elevated Akkermansia m However, faeces from the UC cohort had lower proportions of Akkermansia muciniphila and increased diversity within Clostridium cluster XIVa compared to controls.Gut fermentation of NSP and starch is diminished in patients with UC. Specific members of the microbiota such as Akkermansia muciniphila might be decreased in diabetes and when administered to murines exerted antidiabetic effects. In parallel, the antibiotic susceptibility of Akkermansia muciniphila Muc(T) strain was studied and this strain was observed by electron microscopy." ]

[ "Akkermansia muciniphila resides in the gastrointestinal tracts of humans and animals." ]

[ "Akkermansia muciniphila is a Gram-negative mucin-degrading bacterium that resides in the gastrointestinal tracts of humans and animals. ", "Individuals with obesity and type 2 diabetes differ from lean and healthy individuals in their abundance of certain gut microbial species and microbial gene richness. Abundance of Akkermansia muciniphila, a mucin-degrading bacterium, has been inversely associated with body fat mass and glucose intolerance in mice, but more evidence is needed in humans." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25795669", "http://www.ncbi.nlm.nih.gov/pubmed/26100928" ]

[]

[]

[ "Yes. There is extensive alternative polyadenylation during zebrafish development." ]

[ "yes" ]

[ "Extensive alternative polyadenylation during zebrafish development.", "At 2 h post-fertilization, thousands of unique poly(A) sites appear at locations lacking a typical polyadenylation signal, which suggests a wave of widespread cytoplasmic polyadenylation of mRNA degradation intermediates. Our insights into the identities, formation, and evolution of zebrafish 3' UTRs provide a resource for studying gene regulation during vertebrate development.", "Extensive alternative polyadenylation during zebrafish development." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22722342" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D026723", "http://amigo.geneontology.org/amigo/term/GO:1900365", "http://amigo.geneontology.org/amigo/term/GO:1900364", "http://amigo.geneontology.org/amigo/term/GO:1900363", "http://amigo.geneontology.org/amigo/term/GO:0006378", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015027" ]

[ "NADPH oxidase 1 (NOX1) requires interaction with NOXO1 for function." ]

[ "NADPH oxidase 1", "NOX1", "nicotinamide adenine dinucleotide phosphate-oxidase 1" ]

[ "A unique member of this family, Nox1 oxidase, functions as either a canonical or hybrid system using Nox organizing subunit 1 (NoxO1) or p47(phox), respectively, the latter of which is functional in vascular smooth muscle cells (VSMC). ", "Phosphorylation of Noxo1 at threonine 341 regulates its interaction with Noxa1 and the superoxide-producing activity of Nox1.", "Superoxide production by Nox1, a member of the Nox family NAPDH oxidases, requires expression of its regulatory soluble proteins Noxo1 (Nox organizer 1) and Noxa1 (Nox activator 1) and is markedly enhanced upon cell stimulation with phorbol 12-myristate 13-acetate (PMA), a potent activator of protein kinase C (PKC).", "Phosphorylation of Thr341 allows Noxo1 to sufficiently interact with Noxa1, an interaction that participates in Nox1 activation. Thus phosphorylation of Noxo1 at Thr341 appears to play a crucial role in PMA-elicited activation of Nox1, providing a molecular link between PKC-mediated signal transduction and Nox1-catalyzed superoxide production. Furthermore, Ser154 in Noxo1 is phosphorylated in both resting and PMA-stimulated cells, and the phosphorylation probably participates in a PMA-independent constitutive activity of Nox1. Ser154 may also be involved in protein kinase A (PKA) mediated regulation of Nox1; ", "Thus phosphorylation of Noxo1 at Thr341 and at Ser154 appears to regulate Nox1 activity in different manners.", "The activity of other Nox enzymes such as gp91(phox)/Nox2 and Nox1 is known to absolutely require both an organizer protein (p47(phox) or Noxo1) andanactivatorprotein (p67(phox) or Noxa1); for the p47(phox)-dependent activation of these oxidases, treatment of cells with stimulants such as phorbol 12-myristate 13-acetate is also indispensable. ", "Studies of cytosolic co-factors showed that the C-terminal cytoplasmic domain of NOX1 was absolutely required for activation with NOXO1 and NOXA1 and that this activity required interaction of the putative NADPH-binding region of this domain with NOXA1.", "Additionally, NADPH oxidase Organizer 1 (NoxO1) is shown to interact with the NADPH-binding region of Nox1.", "Activation of the non-phagocytic superoxide-producing NADPH oxidase Nox1, complexed with p22(phox) at the membrane, requires its regulatory soluble proteins Noxo1 and Noxa1.", "NOXO1 phosphorylation on serine 154 is critical for optimal NADPH oxidase 1 assembly and activation.", "Activation of the superoxide-producing NADPH oxidase Nox1 requires both the organizer protein Noxo1 and the activator protein Noxa1.", "NOX1, an NADPH oxidase homologue that is most abundantly expressed in colon epithelial cells, requires the regulatory subunits NOXO1 (NOX organizing protein 1) and NOXA1 (NOX activating protein 1), as well as the flavocytochrome component p22(phox) for maximal activity.", "Activation of Nox1, an oxidase that is likely involved in host defence at the colon, requires novel proteins homologous to p47phox and p67phox, designated Noxo1 and Noxa1, respectively.", "Molecular interaction of NADPH oxidase 1 with betaPix and Nox Organizer 1.", "Reactive oxygen species (ROS) production by NADPH oxidase 1 (NOX1), which is mainly expressed in colon epithelial cells, requires the membrane-bound component p22(PHOX) and the cytosolic partners NOX organizer 1 (NOXO1), NOX activator 1 (NOXA1), and Rac1", "NOX1, an NADPH oxidase homologue that is most abundantly expressed in colon epithelial cells, requires the regulatory subunits NOXO1 (NOX organizing protein 1) and NOXA1 (NOX activating protein 1), as well as the flavocytochrome component p22(phox) for maximal activity", "Activation of the superoxide-producing NADPH oxidase Nox1 requires both the organizer protein Noxo1 and the activator protein Noxa1", "Activation of the non-phagocytic superoxide-producing NADPH oxidase Nox1, complexed with p22(phox) at the membrane, requires its regulatory soluble proteins Noxo1 and Noxa1", "NADPH oxidase 1 (Nox1) is a multicomponent enzyme consisting of p22(phox), Nox organizer 1 (NOXO1), Nox1 activator 1, and Rac1", "UNLABELLED: Superoxide production by Nox1, a member of the Nox family NAPDH oxidases, requires expression of its regulatory soluble proteins Noxo1 (Nox organizer 1) and Noxa1 (Nox activator 1) and is markedly enhanced upon cell stimulation with phorbol 12-myristate 13-acetate (PMA), a potent activator of protein kinase C (PKC). ", "The p47phox- and NADPH oxidase organiser 1 (NOXO1)-dependent activation of NADPH oxidase 1 (NOX1) mediates endothelial nitric oxide synthase (eNOS) uncoupling and endothelial dysfunction in a streptozotocin-induced murine model of diabetes.", "Studies of cytosolic co-factors showed that the C-terminal cytoplasmic domain of NOX1 was absolutely required for activation with NOXO1 and NOXA1 and that this activity required interaction of the putative NADPH-binding region of this domain with NOXA1.", "Nox activator 1 (NoxA1) is a homologue of p67(phox) that acts in conjunction with Nox organizer 1 (NoxO1) to regulate reactive oxygen species (ROS) production by the NADPH oxidase Nox1.", "Nox1 is highly expressed in the colon, and requires two cytosolic regulators, the organizer subunit NoxO1 and the activator subunit NoxA1, as well as the binding of Rac1 GTPase, for its activity.", "Nox1 is highly expressed in the colon, and it requires two cytosolic regulators, NoxO1 and NoxA1, as well as the binding of Rac1 GTPase, for its activity.", "Reactive oxygen species (ROS) production by NADPH oxidase 1 (NOX1), which is mainly expressed in colon epithelial cells, requires the membrane-bound component p22(PHOX) and the cytosolic partners NOX organizer 1 (NOXO1), NOX activator 1 (NOXA1), and Rac1.", "Superoxide production by Nox1, a member of the Nox family NAPDH oxidases, requires expression of its regulatory soluble proteins Noxo1 (Nox organizer 1) and Noxa1 (Nox activator 1) and is markedly enhanced upon cell stimulation with phorbol 12-myristate 13-acetate (PMA), a potent activator of protein kinase C (PKC)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18929641", "http://www.ncbi.nlm.nih.gov/pubmed/15507761", "http://www.ncbi.nlm.nih.gov/pubmed/15507762", "http://www.ncbi.nlm.nih.gov/pubmed/15824103", "http://www.ncbi.nlm.nih.gov/pubmed/27540115", "http://www.ncbi.nlm.nih.gov/pubmed/17900370", "http://www.ncbi.nlm.nih.gov/pubmed/23322165", "http://www.ncbi.nlm.nih.gov/pubmed/23957209", "http://www.ncbi.nlm.nih.gov/pubmed/16329988", "http://www.ncbi.nlm.nih.gov/pubmed/17583407", "http://www.ncbi.nlm.nih.gov/pubmed/16507994", "http://www.ncbi.nlm.nih.gov/pubmed/20454568", "http://www.ncbi.nlm.nih.gov/pubmed/20609497", "http://www.ncbi.nlm.nih.gov/pubmed/22549734", "http://www.ncbi.nlm.nih.gov/pubmed/17913709", "http://www.ncbi.nlm.nih.gov/pubmed/16762923", "http://www.ncbi.nlm.nih.gov/pubmed/16911517", "http://www.ncbi.nlm.nih.gov/pubmed/26781991", "http://www.ncbi.nlm.nih.gov/pubmed/18463161" ]

[]

[ "http://www.uniprot.org/uniprot/NOXO1_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019255", "http://www.uniprot.org/uniprot/NOXO1_MOUSE", "http://amigo.geneontology.org/amigo/term/GO:0043020", "http://www.biosemantics.org/jochem#4270191", "http://www.uniprot.org/uniprot/NOXA1_MOUSE", "http://www.uniprot.org/uniprot/NOXA1_RAT" ]

[ "Yes. SNPs in ultraconserved elements (UCEs) might be associated with cancer risk." ]

[ "yes" ]

[ "SNPs in ultraconserved elements and familial breast cancer risk", " In the present study, we investigated the influence of six SNPs within UCEs on familial breast cancer risk. Two out of six SNPs showed an association with familial breast cancer risk", "This is the first study indicating that SNPs in UCEs might be associated with cancer risk", "SNPs in ultraconserved elements and familial breast cancer risk.", "Recent studies have indicated that UCEs are not mutation cold regions and likely to be concerned with cancers, including breast cancer (BC). ", "SNPs in ultraconserved elements and familial breast cancer risk.", "Genetic variants in ultraconserved elements and risk of breast cancer in Chinese population." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18174240", "http://www.ncbi.nlm.nih.gov/pubmed/21331621" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001943", "http://www.disease-ontology.org/api/metadata/DOID:0060548", "http://www.disease-ontology.org/api/metadata/DOID:1612", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000069584", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000072656", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050436", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058922", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001940", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018567", "http://www.disease-ontology.org/api/metadata/DOID:14521", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061325", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064726" ]

[ "Osimertinib is a third-generation irreversible tyrosine kinase inhibitor of both activating EGFR mutations and resistance-associated T790M point mutation." ]

[]

[ "In addition, mutations leading to resistance to first-line EGFR and ALK TKIs can now be successfully inhibited by soon to be approved third-generation EGFR TKIs (osimertinib, rociletinib) and second-generation ALK TKIs (ceritinib, alectinib). ", "Gefitinib, erlotinib, and afatinib are the EGFR tyrosine kinase inhibitors that are presently in clinical use. Understanding resistance mechanisms has led to the identification of a secondary mutational target, T790M, in more than half of patients, for which osimertinib has been approved. ", "Third-generation EGFR TKIs against the T790M mutation have been in active clinical development. These agents include osimertinib, rociletinib, HM61713, ASP8273, EGF816, and PF-06747775. ", "PURPOSE: Osimertinib (AZD9291) 80 mg once daily is approved by the US FDA for the treatment of patients with metastatic EGFR T790M-positive NSCLC whose disease has previously progressed on EGFR-TKI therapy. Osimertinib PK was evaluated to define the dose and dosing interval, whether a fixed-dosing approach can be used globally, and the impact of formulation and food on exposure.", "RECENT FINDINGS: Third-generation TKIs in clinical development include osimertinib, rociletinib, and HM61713.", "In this study, we investigated the interaction between ABCB1 and osimertinib, a novel selective, irreversible third-generation EGFR TKI that has recently been approved by the U.S. Food and Drug Administration. ", "Considering that osimertinib is a clinically approved third-generation EGFR TKI, our findings suggest that a combination therapy with osimertinib and conventional anticancer drugs may be beneficial to patients with MDR tumors.", "In our study, we investigated whether osimertinib (AZD9291), a third-generation irreversible tyrosine kinase inhibitor of both activating EGFR mutations and resistance-associated T790M point mutation, could reverse MDR induced by ABCB1 and ABCG2 in vitro, in vivo, and ex vivo Our results showed that osimertinib significantly increased the sensitivity of ABCB1- and ABCG2-overexpressing cells to their substrate chemotherapeutic agents in vitro and in the model of ABCB1-overexpressing KBv200 cell xenograft in nude mice. ", "The potency of 1st (erlotinib), 2nd (afatinib) and 3rd (osimertinib and rociletinib) generation EGFR-TKIs was compared in vitro for human lung cancer cell lines and Ba/F3 cells, which exogenously express mutated or wild type EGFR", "Osimertinib (AZD9291, Tagrisso™), an oral, third-generation EGFR TKI, has been designed to target the EGFR T790M mutation, while sparing wild-type EGFR.", "Early phase clinical data suggest the third generation EGFR TKIs such as osimertinib, rociletinib, and HM61713 are highly efficacious and well tolerated.", "We review the rapid clinical development and approval of the third-generation EGFR TKI osimertinib for treatment of NSCLCs with EGFR-T790M." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27861144", "http://www.ncbi.nlm.nih.gov/pubmed/27393507", "http://www.ncbi.nlm.nih.gov/pubmed/27923714", "http://www.ncbi.nlm.nih.gov/pubmed/26902828", "http://www.ncbi.nlm.nih.gov/pubmed/27169328", "http://www.ncbi.nlm.nih.gov/pubmed/27835594", "http://www.ncbi.nlm.nih.gov/pubmed/27912836", "http://www.ncbi.nlm.nih.gov/pubmed/26620497", "http://www.ncbi.nlm.nih.gov/pubmed/27885838", "http://www.ncbi.nlm.nih.gov/pubmed/27196753", "http://www.ncbi.nlm.nih.gov/pubmed/26515464", "http://www.ncbi.nlm.nih.gov/pubmed/27660466", "http://www.ncbi.nlm.nih.gov/pubmed/27071706", "http://www.ncbi.nlm.nih.gov/pubmed/27649127", "http://www.ncbi.nlm.nih.gov/pubmed/26720671", "http://www.ncbi.nlm.nih.gov/pubmed/26898616", "http://www.ncbi.nlm.nih.gov/pubmed/26943236" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020228", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045504" ]

[ "All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism", "All forms of hereditary Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism." ]

[]

[ "All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism", "The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature.", "Bartter syndrome (BS) is a hereditary disease, with an autosomal recessive or autosomal dominant mode of transmission. It is characterized by salt wasting hypochloraemic, hypokalaemic", "Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome.", "Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis.", "Classic Bartter syndrome and neonatal Bartter syndrome have defects in genes that affect transport channels in the ascending loop of Henle, where as in Gitleman syndrome the defect occurs in the transport channels of the distal convoluted tubule.", "Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.", "Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis.", "Bartter syndrome (BS) is a rare renal tubular disorder presenting with hypokalemic metabolic alkalosis, which is classified into five types", "It has been described in patients with chronic diarrhoea, eating disorders, laxative abuse and primary hyperaldosteronism; also occasionally in Bartter syndrome (BS), in which severe hypokalaemia accompanies significant renal sodium and water losses, though rarely in Gitelman syndrome (GS), in which there is equally severe hypokalaemia, but only modest sodium losses.We hypothesized that hypokalaemic nephropathy may not be due to potassium depletion per se, but persistently elevated circulating levels of aldosterone, possibly with superimposed episodes of renal hypoperfusion.We searched UK and European data sets to retrospectively compare serum and urinary parameters in patients with GS and BS.", "Acquired Bartter-like syndrome (BLS), characterized by hypokalemic metabolic alkalosis, hypomagnesemia, hypocalcemia, and normal kidney function, can be induced by diuretics or antibiotics", "lassic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene", "clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome", "Bartter syndrome is an autosomic recessive disease characterized by severe polyuria and sodium renal loss", "The term \"Bartter syndrome\" encompasses a group of closely related inherited tubulopathies characterized by markedly reduced NaCl transport by the distal nephron. ", " true Bartter's syndrome, diagnosed as a normotensive, hyperreninaemic, hypokalaemic metabolic alkalosis with normal urine chloride excretion, low CH2O/(CH2O+CCl) ratio during maximal water diuresis and negative urine screen for diuretics", "Bartter's syndrome belongs to a group of hypokalemic renal channel diseases.", "Hypokalemia due to renal potassium wasting in the absence of hypertension, moderate metabolic alkalosis, hyperreninism and hyperaldosteronism suggest the presence of Bartter's syndrome.", " Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter syndrome (cBS). ", "Bartter syndrome, a group of autosomal recessive disorders that are characterized by markedly reduced or absent salt transport by the thick ascending limb of Henle. ", "Bartter's and Gitelman's syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic alkalosis.", "Bartter's syndrome has been used to describe a spectrum of inherited renal tubular disorders with hypokalemic metabolic alkalosis and overlapping and additional clinical and biochemical features. ", "antenatal variant of Bartter syndrome is characterized by a history of polyhydramnios, premature birth, metabolic alkalosis, hypokalemia, polyuria and renal", "Most patients with Bartter syndrome have defects in transporters in the thick ascending limb of the loop of Henle, such as the Na-K-2Cl cotransporter, NKCC2, or the ATP-sensitive potassium channel, ROMK. ", "Gitelman's syndrome or familial hypokalemia-hypomagnesemia and Bartter syndrome share some common features but their prognosis is quite different.", "Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism", "Bartter's and Gitelman's syndromes are two different genetic renal diseases, but are both characterised by hypokalaemia and metabolic alkalosis. Bartter's syndrome is characterised by multiple gene mutations (Na-K-2Cl cotransporter; K(+) channels renal outer medullary potassium channel (ROMK); Cl channels, chloride channel Kb (ClCNKb); regulatory protein Barttin; and Ca(2+) -sensing receptor, CaSR) at the thick ascending limb of Henle's loop, " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25810436", "http://www.ncbi.nlm.nih.gov/pubmed/23164417", "http://www.ncbi.nlm.nih.gov/pubmed/18800266", "http://www.ncbi.nlm.nih.gov/pubmed/9203176", "http://www.ncbi.nlm.nih.gov/pubmed/9502562", "http://www.ncbi.nlm.nih.gov/pubmed/1328936", "http://www.ncbi.nlm.nih.gov/pubmed/19915517", "http://www.ncbi.nlm.nih.gov/pubmed/15056980", "http://www.ncbi.nlm.nih.gov/pubmed/12920401", "http://www.ncbi.nlm.nih.gov/pubmed/22142744", "http://www.ncbi.nlm.nih.gov/pubmed/20127218", "http://www.ncbi.nlm.nih.gov/pubmed/23342992", "http://www.ncbi.nlm.nih.gov/pubmed/7869998", "http://www.ncbi.nlm.nih.gov/pubmed/15875219", "http://www.ncbi.nlm.nih.gov/pubmed/24696311", "http://www.ncbi.nlm.nih.gov/pubmed/27277374", "http://www.ncbi.nlm.nih.gov/pubmed/21705784", "http://www.ncbi.nlm.nih.gov/pubmed/21431899", "http://www.ncbi.nlm.nih.gov/pubmed/10906158", "http://www.ncbi.nlm.nih.gov/pubmed/16953151", "http://www.ncbi.nlm.nih.gov/pubmed/6395627" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:0110147", "http://www.disease-ontology.org/api/metadata/DOID:0110146", "http://www.disease-ontology.org/api/metadata/DOID:0110145", "http://www.disease-ontology.org/api/metadata/DOID:0110144", "http://www.disease-ontology.org/api/metadata/DOID:0110143", "http://www.disease-ontology.org/api/metadata/DOID:0110142", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001477", "http://www.disease-ontology.org/api/metadata/DOID:445" ]

[ "Yes. The zebrafish enhancer detection (ZED) vector is a tool that facilitates transgenesis and the functional analysis of cis-regulatory regions in zebrafish." ]

[ "yes" ]

[ "Zebrafish enhancer detection (ZED) vector: a new tool to facilitate transgenesis and the functional analysis of cis-regulatory regions in zebrafish.", "he cis-regulatory sequences control when, where, and how much genes are transcribed and can activate (enhancers) or repress (silencers) gene expression. Here, we describe a novel Tol2 transposon-based vector for assessing enhancer activity in the zebrafish (Danio rerio). This Zebrafish Enhancer Detector (ZED) vector harbors several key improvements, among them a sensitive and specific minimal promoter chosen for optimal enhancer activity detection, insulator sequences to shield the minimal promoter from position effects, and a positive control for transgenesis. Additionally, we demonstrate that highly conserved noncoding sequences homologous between humans and zebrafish largely with enhancer activity largely retain their tissue-specific enhancer activity during vertebrate evolution. More strikingly, insulator sequences from mouse and chicken, but not conserved in zebrafish, maintain their insulator capacity when tested in this model.", "Zebrafish enhancer detection (ZED) vector: a new tool to facilitate transgenesis and the functional analysis of cis-regulatory regions in zebrafish", "Zebrafish enhancer detection (ZED) vector: a new tool to facilitate transgenesis and the functional analysis of cis-regulatory regions in zebrafish." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19653328" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004742", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015027", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011401", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012045" ]

[ "RMBase and MODOMICS" ]

[ "RMBase", "RNA Modification Base", "MODOMICS" ]

[ "RMBase: a resource for decoding the landscape of RNA modifications from high-throughput sequencing data.", "we developed a novel resource, RMBase (RNA Modification Base, http://mirlab.sysu.edu.cn/rmbase/), to decode the genome-wide landscape of RNA modifications identified from high-throughput modification data generated by 18 independent studies. ", " known pathways of RNA modification from the MODOMICS database", "MODOMICS is a database of RNA modifications that provides comprehensive information concerning the chemical structures of modified ribonucleosides, their biosynthetic pathways, RNA-modifying enzymes and location of modified residues in RNA sequences. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26464443", "http://www.ncbi.nlm.nih.gov/pubmed/27016142", "http://www.ncbi.nlm.nih.gov/pubmed/23118484" ]

[]

[]

[ "hemolysis, elevated liver enzymes and low platelets constitute the hellp syndrome.", "HELLP syndrome (hemolysis, elevated liver enzymes, low platelets) is an obstetric complication and is characterized by microangiopathic hemolytic anemia, elevated liver enzymes by intravascular breakdown of fibrin in hepatic sinusoids and reduction of platelet circulation by its increased consumption" ]

[ "hemolytic anemia", "elevated liver enzymes", "low platlets" ]

[ "HELLP syndrome (hemolysis, elevated liver enzymes, low platelets) is an obstetric complication with heterogonous presentation and multisystemic involvement. It is characterized by microangiopathic hemolytic anemia, elevated liver enzymes by intravascular breakdown of fibrin in hepatic sinusoids and reduction of platelet circulation by its increased consumption", "Hemolysis, elevated liver enzymes and low platelets constitute the HELLP syndrome.", "Our objective was to describe the hepatic imaging findings in selected patients with HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count) and to correlate these findings with the severity of concurrent clinical and laboratory abnormalities.", "Our objective was to categorize the histologic findings in the liver in patients with HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count) and to correlate these findings with the severity of clinical laboratory abnormalities.", "OBJECTIVE: Our purpose was to test the hypothesis that the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is the result of excessive vasoconstriction of the hepatic arterial circulation.STUDY DESIGN: Doppler ultrasonography was used to measure the pulsatility index of the common hepatic artery in 14 women with preeclampsia, 15 with preeclampsia complicated by HELLP syndrome, and 8 with HELLP syndrome but without proteinuria.", "Extensive hepatic infarction in severe preeclampsia as part of the HELLP syndrome (hemolysis, elevated liver enzymes, and low platelets): evolution of CT findings and successful treatment with plasma exchange therapy.", "OBJECTIVE: Our objective was to categorize the histologic findings in the liver in patients with HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count) and to correlate these findings with the severity of clinical laboratory abnormalities. ", "The syndrome of haemolysis, elevated liver enzymes and low platelets (HELLP syndrome) is a life threatening, severe complication of pre-eclampsia with typical laboratory findings.", "Hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome ", "hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome", "HELLP syndrome, a syndrome of hemolysis, elevated liver enzymes and low platelets", "HELLP syndrome is a collection of symptoms described as hemolysis, elevated liver enzymes and low platelets", "The HELLP syndrome is characterized by the presence of hypertension disorder more a triad: microangiopathic hemolysis, elevated liver enzymes and low platelet count.", "HELLP (hemolysis, elevated liver enzymes, and low platelets)", " HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome, ", "Hepatic hemorrhage occurs in less than 5% of patients with hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome", " HELLP (haemolysis, elevated liver enzymes and low platelets)", "Hemolysis, elevated liver enzymes, and low platelet count syndrome (HELLP syndrome) ", " hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome", " hemolysis, elevated liver enzymes and low platelet (HELLP) syndrome, i", "Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome", "HELLP (hemolysis, elevated liver enzymes, and low platelet count)", "HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome", "hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome", "hemolysis, elevated liver enzymes, and low platelets (HELLP)," ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26953551", "http://www.ncbi.nlm.nih.gov/pubmed/11854637", "http://www.ncbi.nlm.nih.gov/pubmed/23871223", "http://www.ncbi.nlm.nih.gov/pubmed/11720149", "http://www.ncbi.nlm.nih.gov/pubmed/23040928", "http://www.ncbi.nlm.nih.gov/pubmed/8765269", "http://www.ncbi.nlm.nih.gov/pubmed/26446688", "http://www.ncbi.nlm.nih.gov/pubmed/8678146", "http://www.ncbi.nlm.nih.gov/pubmed/1471661", "http://www.ncbi.nlm.nih.gov/pubmed/9914607", "http://www.ncbi.nlm.nih.gov/pubmed/10847654", "http://www.ncbi.nlm.nih.gov/pubmed/19703145", "http://www.ncbi.nlm.nih.gov/pubmed/26016316", "http://www.ncbi.nlm.nih.gov/pubmed/8059835", "http://www.ncbi.nlm.nih.gov/pubmed/23697398" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:13133", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017359" ]

[ "Mutations in microphthalmia-associated transcription factor (MITF) gene cause Waardenburg and Tietz syndromes." ]

[ "microphthalmia-associated transcription factor gene", "MITF" ]

[ "Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.", "Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. ", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome.", "For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV. ", "These disorders are represented by Waardenburg syndrome, piebaldism and Tietz syndrome, and are caused by different mutations of various or the same genes. ", "Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). ", "All patients with PAX3 mutations had typical phenotype of WS with dystopia canthorum (WS1), whereas patients with MITF gene mutations presented without dystopia canthorum (WS2). ", "MITF 3-bp deletions at amino acid position 217 have previously been described in patients with Tietz syndrome (TS), a clinical entity with hearing loss and generalised hypopigmentation.", "On the basis of these findings, we conclude that sequencing and copy number analysis of both PAX3 and MITF have to be recommended in the routine molecular diagnostic setting for patients, WS1 and WS2. Furthermore, our genotype-phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position.", "Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.", "A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss. ", "Mutations in microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome type 2 (WS2), a dominantly inherited disorder involving hearing loss and pigment disturbances caused by a lack of melanocytes. On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. ", "In humans, haploinsufficiency of MITF causes Waardenburg syndrome type 2, while a dominant-negative mutation causes Tietz syndrome. ", "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.", "This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.", "In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation. ", "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).", "MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. ", "Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).", "The microphthalmia-associated transcription factor (MITF) is a basic helix-loop-helix leucine zipper transcription factor, which regulates melanocyte development and the biosynthetic melanin pathway. A notable relationship has been described between non-truncating mutations of its basic domain and Tietz syndrome, which is characterized by albinoid-like hypopigmentation of the skin and hair, rather than the patchy depigmentation seen in Waardenburg syndrome, and severe hearing loss", "Mutations of the MITF gene may lead to hereditary diseases: Waardenburg type II and Tietz syndromes.", "The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF.", "On some occasions, mutations of a gene cause different syndromes that may have similar phenotypes. For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997)", "Mutations of the MITF gene may lead to hereditary diseases: Waardenburg type II and Tietz syndromes.", "Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS).", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome.", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997).", "Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.", "By analyzing the genes for Waardenburg syndrome, we showed that PAX3, the gene responsible for Waardenburg syndrome type 1, regulates MITF, the gene responsible for Waardenburg syndrome type 2.", "MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II.", "Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS)", "Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2A as well as Tietz syndrome", "This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. ", "On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype. ", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997). ", "For example, mutations of the MITF gene cause Waardenburg syndrome type 2 (Tassabehji et al, 1994; Nobukuni et al, 1996) as well as Tietz syndrome (Smith et al, 1997).", "In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation.", "In humans, haploinsufficiency of MITF causes Waardenburg syndrome type 2, while a dominant-negative mutation causes Tietz syndrome.", "Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.", "Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.", "Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.", "For example, mutations of MITF, SNAI2 and SOX10 genes are observed in Waardenburg syndrome type II and mutations of EDNRB, EDN3 and SOX10 genes are responsible for Waardenburg syndrome type IV.", "Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/10952390", "http://www.ncbi.nlm.nih.gov/pubmed/22371403", "http://www.ncbi.nlm.nih.gov/pubmed/24379252", "http://www.ncbi.nlm.nih.gov/pubmed/23098757", "http://www.ncbi.nlm.nih.gov/pubmed/22258527", "http://www.ncbi.nlm.nih.gov/pubmed/23020089", "http://www.ncbi.nlm.nih.gov/pubmed/19938076", "http://www.ncbi.nlm.nih.gov/pubmed/23787126", "http://www.ncbi.nlm.nih.gov/pubmed/20485200", "http://www.ncbi.nlm.nih.gov/pubmed/9546825", "http://www.ncbi.nlm.nih.gov/pubmed/10790403", "http://www.ncbi.nlm.nih.gov/pubmed/10536986", "http://www.ncbi.nlm.nih.gov/pubmed/23512835", "http://www.ncbi.nlm.nih.gov/pubmed/10851256", "http://www.ncbi.nlm.nih.gov/pubmed/27604145", "http://www.ncbi.nlm.nih.gov/pubmed/22196401", "http://www.ncbi.nlm.nih.gov/pubmed/26252099" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051739", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014849", "http://www.uniprot.org/uniprot/MITF_HUMAN" ]

[ "Firmicutes\nProteobacteria \nBacteroidetes" ]

[ "Firmicutes", "Proteobacteria", "Bacteroidetes" ]

[ "Amplicons representing the major phyla encountered in the rumen (Firmicutes, 43.7%; Proteobacteria, 28.7%; Bacteroidetes, 25.3%; Spirochea, 1.1%, and Synergistes, 1.1%) were recovered, ", "alterations in the gut microbiota (increased Firmicutes and decreased Bacteroidetes)", "The taxonomic analysis of the metagenomic reads indicated that pygmy loris fecal microbiomes were dominated by Bacteroidetes and Proteobacteria phyla. ", "Specifically, intermittent hypoxia-exposed mice showed a higher abundance of Firmicutes and a smaller abundance of Bacteroidetes and Proteobacteria phyla than controls." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25537565", "http://www.ncbi.nlm.nih.gov/pubmed/20926643", "http://www.ncbi.nlm.nih.gov/pubmed/23457582", "http://www.ncbi.nlm.nih.gov/pubmed/19159975" ]

[]

[]

[ "Sickle cell anemia (SCA) is an autosomal recessive disease caused by by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis.", " sca patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene." ]

[ "HBB" ]

[ "Sickle cell anemia (SCA) is an inherited blood disorder. SCA patients present clinical and hematologic variability that cannot be only explained by the single mutation in the beta-globin gene.", "Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis.", "Sickle cell anemia is caused by a single type of mutation, a homozygous A→T substitution in the ß globin gene.", "Implementation of this approach for disorders resulting from mutations affecting the beta-globin gene (e.g., beta-thalassemia and sickle cell anemia), however, has been hampered by the inability to generate recombinant viruses able to efficiently and faithfully transmit the necessary sequences for appropriate gene expression.", "The allele-specific PCR approach has been modified by introducing a second mismatch at the 3'-penultimate link of the primer and used to identify the sickle cell anemia mutation (A-->T transversion in the sixth codon of the human beta-globin gene causing Glu-->Val substitution in the protein), thus obviating the problem of an interpretationally ambiguous 3'-terminal mismatch including T residue.", "Sickle-cell anemia results from an A leads to T transversion in the second nucleotide of codon 6 of the beta-globin gene.", "Sickle cell anemia is a genetic blood disorder arising from a point mutation in the beta-globin gene that leads to the replacement of glutamic acid residue by valine at the sixth position of the beta--chain of hemoglobin.", "Sickle cell anemia is a genetic blood disease resulting from production of mutant beta-globin (beta(S)) and has severe clinical consequences. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27802215", "http://www.ncbi.nlm.nih.gov/pubmed/27814292", "http://www.ncbi.nlm.nih.gov/pubmed/17662889", "http://www.ncbi.nlm.nih.gov/pubmed/1301951", "http://www.ncbi.nlm.nih.gov/pubmed/11172667", "http://www.ncbi.nlm.nih.gov/pubmed/20886046", "http://www.ncbi.nlm.nih.gov/pubmed/8745433", "http://www.ncbi.nlm.nih.gov/pubmed/6310991", "http://www.ncbi.nlm.nih.gov/pubmed/7624311" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000755", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006451", "http://www.disease-ontology.org/api/metadata/DOID:10923", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012805" ]

[ "Indian hedgehog is a protein that regulates endochondral differentiation and ossification in both a parathyroid hormone-related protein (PTHrP)-dependent and -independent manner by activating transcriptional mediator Gli2 and is an essential factor for proper skeletal development." ]

[]

[ "Indian hedgehog (Ihh) regulates endochondral ossification in both a parathyroid hormone-related protein (PTHrP)-dependent and -independent manner by activating transcriptional mediator Gli2. ", "Wnt/β-catenin, Indian hedgehog (Ihh)/Parathyroid-related peptide (PTHrP) and retinoid signaling pathways regulate cartilage differentiation, growth, and function during development and play a key role in endochondral ossification.", "Indian hedgehog (Ihh) is essential for chondrocyte differentiation and endochondral ossification and acts with parathyroid hormone-related peptide in a negative feedback loop to regulate early chondrocyte differentiation and entry to hypertrophic differentiation. Independent of this function, we and others recently reported independent Ihh functions to promote chondrocyte hypertrophy and matrix mineralization in vivo and in vitro.", "We recently discovered that Ihh overexpression in chondrocytes stimulated the expression of late chondrocyte differentiation markers and induced matrix mineralization. ", "In addition, we found that Ihh induced Runx2 expression in chondrocytes without up-regulating other modulators of chondrocyte maturation such as Mef2c, Foxa2, and Foxa3. ", "Thus, Ihh signaling could be an important player for not only early chondrocyte differentiation but maturation and calcification of chondrocytes.", "The Ihh signal is essential for regulating proliferation and hypertrophy of cultured chicken chondrocytes.", "The Indian hedgehog (Ihh) signal plays a vital role in regulating proliferation and hypertrophy of chondrocytes. ", "Based on these results, the Ihh signal is essential for balancing chicken chondrocyte proliferation and hypertrophy, and the regulatory function of PTHrP acts in an Ihh-dependent manner. Furthermore, BMP-6 and Bcl-2 played roles in maintaining the development of chondrocytes and may be downstream regulatory factors of Ihh signaling.", "Atf4 is a leucine zipper-containing transcription factor that activates osteocalcin (Ocn) in osteoblasts and indian hedgehog (Ihh) in chondrocytes. ", "Indian hedgehog (Ihh) is produced by prehypertrophic chondrocytes in developing long bones and regulates chondrocyte proliferation and other events, but it is not known whether it requires HS-PGs for function.", "We have shown that Indian hedgehog gene (Ihh) is expressed in cartilage anlage and later in mature and hypertrophic chondrocytes.", "Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.", "In normal growth plates, differentiation of proliferative chondrocytes to post-mitotic hypertrophic chondrocytes is regulated in part by a tightly coupled signaling relay involving parathyroid hormone related protein (PTHrP) and Indian hedgehog (IHH).", "The Indian hedgehog (Ihh) signal plays a vital role in regulating proliferation and hypertrophy of chondrocytes.", "Indian hedgehog and syndecans-3 coregulate chondrocyte proliferation and function during chick limb skeletogenesis.", "We further demonstrate that misexpression of Indian hedgehog appears to directly upregulate BMP2 and BMP4 expression, independent of the differentiation state of the flanking chondrocytes.", "Indian hedgehog (Ihh) is produced by prehypertrophic chondrocytes in developing long bones and regulates chondrocyte proliferation and other events, but it is not known whether it requires HS-PGs for function.", "The cellular expression of two markers of chondrocyte differentiation, Indian hedgehog, expressed in pre-hypertrophic cells and collagen type X, expressed in hypertrophic chondrocytes, were both significantly inhibited after incubation with isoproterenol", "Indian hedgehog (Ihh) is produced by prehypertrophic chondrocytes in developing long bones and regulates chondrocyte proliferation and other events, but it is not known whether it requires HS-PGs for function", "Four distinct chondrocyte populations in the fetal bovine growth plate: highest expression levels of PTH/PTHrP receptor, Indian hedgehog, and MMP-13 in hypertrophic chondrocytes and their suppression by PTH (1-34) and PTHrP (1-40)", "Although it is known that parathyroid hormone related protein (PTHrP) and Indian hedgehog regulate the differentiation of growth plate chondrocytes, how these pathways interact to regulate chondrocyte development is not fully elucidated", "Indian hedgehog (Ihh) signaling from prehypertrophic chondrocytes has been implicated in the control of chondrocyte maturation by way of feedback control of a second secreted factor parathyroid hormone-related peptide (PTHrP) at the articular surfaces", "Mutant BMP receptors were transfected into cultured embryonic upper sternal chrondrocytes using retroviral vectors to determine if BMP signaling is required for chondrocyte maturation and the expression of a key regulatory molecule, Indian hedgehog (Ihh)", "Chondrocytes of the epiphyseal growth zone are regulated by the Indian hedgehog (IHH)-parathyroid hormone-related protein (PTHrP) axis", "The polymorphic layer in P15 mutants contained fewer Sox9-expressing chondroprogenitor cells because of reduced mitotic activity, and newly differentiated chondrocytes underwent precocious hypertrophic enlargement accompanied by early activation of Indian hedgehog (Ihh)", "In an effort to lessen the severity of bone defects caused by HhAntag, we treated young mice simultaneously with HhAntag and parathyroid hormone-related protein (PTHrP), which functions downstream of Indian Hedgehog to maintain chondrocytes in a proliferative state. ", "Chondrocyte differentiation during embryonic bone growth is controlled by interactions between PTHrP and Indian hedgehog.", "Hedgehog genes encode secreted proteins which mediate patterning and growth during skeletal development.", "Indian hedgehog (Ihh) has recently been shown to be expressed in prehypertrophic and hypertrophic chondrocytes during embryonic development, and it has been implicated in the regulation of terminal differentiation of chondrocytes.", "Indian hedgehog and syndecans-3 coregulate chondrocyte proliferation and function during chick limb skeletogenesis.", "Indian Hedgehog signalling triggers Nkx3.2 protein degradation during chondrocyte maturation.", "Regulation of articular chondrocyte proliferation and differentiation by indian hedgehog and parathyroid hormone-related protein in mice.", "Chondrocytes of the epiphyseal growth zone are regulated by the Indian hedgehog (IHH)-parathyroid hormone-related protein (PTHrP) axis.", "Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.", "Expression of indian hedgehog, bone morphogenetic protein 6 and gli during skeletal morphogenesis.", "Indian hedgehog signals independently of PTHrP to promote chondrocyte hypertrophy.", "Age-dependent effects of hedgehog protein on chondrocytes.", "Indian hedgehog (Ihh), a secreted protein expressed in early hypertrophic chondrocytes, is thought to be involved in regulation of hypertrophic conversion via a feedback loop through the perichondrium.", "Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.", "These observations are in keeping with the proposed function of gli as a negative regulator of Ihh signaling and the induction of Bmps by Hedgehog proteins (Roberts et al., 1995." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24821091", "http://www.ncbi.nlm.nih.gov/pubmed/17328886", "http://www.ncbi.nlm.nih.gov/pubmed/11517192", "http://www.ncbi.nlm.nih.gov/pubmed/18059015", "http://www.ncbi.nlm.nih.gov/pubmed/10328918", "http://www.ncbi.nlm.nih.gov/pubmed/12213208", "http://www.ncbi.nlm.nih.gov/pubmed/23928032", "http://www.ncbi.nlm.nih.gov/pubmed/10631175", "http://www.ncbi.nlm.nih.gov/pubmed/21795282", "http://www.ncbi.nlm.nih.gov/pubmed/25028519", "http://www.ncbi.nlm.nih.gov/pubmed/19906842", "http://www.ncbi.nlm.nih.gov/pubmed/18434416", "http://www.ncbi.nlm.nih.gov/pubmed/10615989", "http://www.ncbi.nlm.nih.gov/pubmed/11850620", "http://www.ncbi.nlm.nih.gov/pubmed/25808752", "http://www.ncbi.nlm.nih.gov/pubmed/17907424", "http://www.ncbi.nlm.nih.gov/pubmed/8662546", "http://www.ncbi.nlm.nih.gov/pubmed/9486541", "http://www.ncbi.nlm.nih.gov/pubmed/22507129", "http://www.ncbi.nlm.nih.gov/pubmed/11714677", "http://www.ncbi.nlm.nih.gov/pubmed/12745383", "http://www.ncbi.nlm.nih.gov/pubmed/10742444", "http://www.ncbi.nlm.nih.gov/pubmed/21411723", "http://www.ncbi.nlm.nih.gov/pubmed/10208865", "http://www.ncbi.nlm.nih.gov/pubmed/15355563", "http://www.ncbi.nlm.nih.gov/pubmed/11748145", "http://www.ncbi.nlm.nih.gov/pubmed/10465785", "http://www.ncbi.nlm.nih.gov/pubmed/11466306", "http://www.ncbi.nlm.nih.gov/pubmed/22190639", "http://www.ncbi.nlm.nih.gov/pubmed/14991716", "http://www.ncbi.nlm.nih.gov/pubmed/21566205", "http://www.ncbi.nlm.nih.gov/pubmed/10491221", "http://www.ncbi.nlm.nih.gov/pubmed/25479004", "http://www.ncbi.nlm.nih.gov/pubmed/19035497", "http://www.ncbi.nlm.nih.gov/pubmed/11332615", "http://www.ncbi.nlm.nih.gov/pubmed/24844414", "http://www.ncbi.nlm.nih.gov/pubmed/12968668" ]

[]

[ "http://www.uniprot.org/uniprot/IHH_DANAT", "http://www.uniprot.org/uniprot/IHH_RASEL", "http://www.uniprot.org/uniprot/IHH_CARAU", "http://www.uniprot.org/uniprot/IHH_TRIHE", "http://www.uniprot.org/uniprot/IHH_DANAP", "http://www.uniprot.org/uniprot/IHH_DEVDE", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019902", "http://www.uniprot.org/uniprot/IHH_DEVPA", "http://www.uniprot.org/uniprot/IHH_RASPA", "http://www.uniprot.org/uniprot/IHH_DANKE", "http://www.uniprot.org/uniprot/IHH_XENLA", "http://www.uniprot.org/uniprot/IHH_MOUSE", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019485", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053823", "http://www.uniprot.org/uniprot/IHH_PUNTE", "http://www.uniprot.org/uniprot/IHH_HUMAN", "http://www.uniprot.org/uniprot/IHH_CHICK", "http://www.uniprot.org/uniprot/IHH_DEVMA" ]

[ "R-spondin 1 and noggin facilitate expansion of resident stem cells from non-damaged gallbladders." ]

[ "The expansion of resident stem cells." ]

[ "R-spondin 1 and noggin facilitate expansion of resident stem cells from non-damaged gallbladders.", "R-spondin 1 and noggin facilitate expansion of resident stem cells from non-damaged gallbladders." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26993089" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005704", "http://www.biosemantics.org/jochem#4264633", "http://www.uniprot.org/uniprot/NOGG_HUMAN", "http://www.uniprot.org/uniprot/RSPO1_MOUSE", "http://www.uniprot.org/uniprot/RSPO1_DANRE", "http://www.uniprot.org/uniprot/SPON1_MOUSE", "http://www.uniprot.org/uniprot/RSPO1_HUMAN", "http://www.uniprot.org/uniprot/SPON1_RAT", "http://www.uniprot.org/uniprot/SPON1_CHICK", "http://www.uniprot.org/uniprot/NOGG_XENLA", "http://www.uniprot.org/uniprot/SPON1_XENLA" ]

[ "The Melkersson-Rosenthal syndrome consists of the classical triad of symptoms:\n1) orofacial oedema \n2) fissured tongue (lingua plicata) and\n3) facial paralysis." ]

[ "orofacial oedema", "lip and face swelling", "fissured tongue", "lingua plicata", "facial paralysis", "facial palsy" ]

[ "The Melkersson-Rosenthal syndrome consists of a triad of recurrent lip and/or face swelling, fissured tongue, and intermittent facial palsy. ", "The patient has a typical for Melkersson-Rosenthal syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and facial oedema. ", "Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown cause. The classical triad of MRS is orofacial edema, recurrent facial paralysis, and a fissured tongue.", "Melkersson-Rosenthal syndrome (MRS) is a rare granulomatous inflammatory disease characterised by the triad of orofacial oedema, facial nerve palsy and furrowed tongue.", "Melkersson-Rosenthal syndrome (MRS) is a rare neuro-mucocutaneous granulomatous disorder of unknown etiology, characterized by the triad of facial palsy, lingua plicata (fissured tongue), and orofacial edema. ", "Melkerrson-Rosenthal syndrome is a rare disorder of unknown etiology. The classical triad of recurrent facial paralysis, swelling of the face, lips and deep furrowed tongue (Lingua Plicata) is seen in very few cases, majority of the patients often present with one or two symptoms only, which often leads to misdiagnosis and mismanagement. ", "Melkersson-Rosenthal syndrome (MRS) is a rare neuromucocutaneous syndrome marked by the triad of recurrent nonpitting orofacial edema, fissured dorsal tongue (lingua plicata), and lower motoneuron facial paralysis.", "Recurrent facial nerve palsy, facial swelling, and fissured tongue are the symptoms and signs of this condition. However, this triad is not typical in all patients as patients may present with one or more of the symptoms, which makes management of this condition difficult. ", "Melkersson-Rosenthal syndrome may manifest as the classical triad (orofacial edema, facial nerve palsy and stable lingua plicata) but monosymptomatic manifestations or combinations of typical symptoms are not infrequent.", "Melkersson-Rosenthal Syndrome (MRS) is a systemic neuro-mucocutaneous granulomatous disease, characterized in its classical form by a triad of recurrent facial nerve paralysis, swelling of the lips and lingua plicata.", "Melkersson-Rosenthal syndrome is classically described as a triad of orofacial swelling, facial palsy, and fissured tongue.", "Melkersson-Rosenthal syndrome is a rare disorder consisting of the triad of persistent or recurrent orofacial edema, relapsing facial paralysis and fissured tongue.", "The Melkersson-Rosenthal syndrome consists of a triad of recurrent lip and/or face swelling, fissured tongue, and intermittent facial palsy.", "The Melkersson-Rosenthal syndrome consists of a triad of symptoms: peripheral facial nerve paralysis, congenital \"lingua plicata\" and noninflammatory facial oedema.", "The Melkersson-Rosenthal syndrome consists of triad of symptoms: recurrent oedema of lips, recurrent facial nerve paralysis and lingua plicata.", "Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue.", "The Melkersson-Rosenthal syndrome consists of triad of symptoms: recurrent oedema of lips, recurrent facial nerve paralysis and lingua plicata", "Melkersson-Rosenthal syndrome may manifest as the classical triad (orofacial edema, facial nerve palsy and stable lingua plicata) but monosymptomatic manifestations or combinations of typical symptoms are not infrequent", "Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown etiology characterized by a triad of symptoms: recurrent orofacial swelling, relapsing facial palsy. and a fissured tongue", "The Melkersson-Rosenthal syndrome consists of a triad of symptoms: peripheral facial nerve paralysis, congenital \"lingua plicata\" and noninflammatory facial oedema", "Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of facial paralysis, facial oedema, and lingua plicata in association with other symptoms, such as headache and mental changes", "Peripheral facial nerve palsy, recurrent or persistent oral or facial swelling, and fissured tongue constitute a triad of symptoms known as Melkersson-Rosenthal syndrome", "Melkersson-Rosenthal (MRS) syndrome is characterized by a classical triad of recurrent or persistent orofacial swelling, peripheral facial nerve paralysis and lingua plicata. ", "BACKGROUND: Melkersson-Rosenthal syndrome may manifest as the classical triad (orofacial edema, facial nerve palsy and stable lingua plicata) but monosymptomatic manifestations or combinations of typical symptoms are not infrequent. ", "The syndrome is classically characterized by a triad of signs consisting of facial edema, recurrent peripheral facial nerve paralysis, and congenital fissured tongue, although it may also present in a mono- or oligosymptomatic form. ", "The classic triad of signs includes recurrent orofacial edema, recurrent facial nerve palsy, and lingua plicata. ", "Melkersson-Rosenthal syndrome (MRS) is characterized by the triad of facial paralysis, facial oedema, and lingua plicata in association with other symptoms, such as headache and mental changes.", "The patient has a typical for Melkersson-Rosenthal syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and facial oedema.", "Peripheral facial nerve palsy, recurrent or persistent oral or facial swelling, and fissured tongue constitute a triad of symptoms known as Melkersson-Rosenthal syndrome.", "Classical signs include recurrent facial palsy, lingua plicata and orofacial edema.", "The classical triad includes recurrent orofacial oedema involving predominantly the lips (macrocheilitis), intermittent peripheral facial palsy and scrotal tongue.", "The patient has a typical for Melkersson-Rosenthal syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and facial oedema." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16856704", "http://www.ncbi.nlm.nih.gov/pubmed/1597367", "http://www.ncbi.nlm.nih.gov/pubmed/15865255", "http://www.ncbi.nlm.nih.gov/pubmed/16989500", "http://www.ncbi.nlm.nih.gov/pubmed/10481507", "http://www.ncbi.nlm.nih.gov/pubmed/11995671", "http://www.ncbi.nlm.nih.gov/pubmed/24874612", "http://www.ncbi.nlm.nih.gov/pubmed/10938204", "http://www.ncbi.nlm.nih.gov/pubmed/10534638", "http://www.ncbi.nlm.nih.gov/pubmed/14980194", "http://www.ncbi.nlm.nih.gov/pubmed/10332378", "http://www.ncbi.nlm.nih.gov/pubmed/12783021", "http://www.ncbi.nlm.nih.gov/pubmed/1923442", "http://www.ncbi.nlm.nih.gov/pubmed/24827666", "http://www.ncbi.nlm.nih.gov/pubmed/15068454", "http://www.ncbi.nlm.nih.gov/pubmed/24656464", "http://www.ncbi.nlm.nih.gov/pubmed/7856459", "http://www.ncbi.nlm.nih.gov/pubmed/8725591", "http://www.ncbi.nlm.nih.gov/pubmed/2584463", "http://www.ncbi.nlm.nih.gov/pubmed/24225172", "http://www.ncbi.nlm.nih.gov/pubmed/22836908", "http://www.ncbi.nlm.nih.gov/pubmed/7640193", "http://www.ncbi.nlm.nih.gov/pubmed/17103360", "http://www.ncbi.nlm.nih.gov/pubmed/26635986", "http://www.ncbi.nlm.nih.gov/pubmed/8302226", "http://www.ncbi.nlm.nih.gov/pubmed/12081001", "http://www.ncbi.nlm.nih.gov/pubmed/16096940", "http://www.ncbi.nlm.nih.gov/pubmed/9224474", "http://www.ncbi.nlm.nih.gov/pubmed/3228056", "http://www.ncbi.nlm.nih.gov/pubmed/26698837" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008556", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "http://www.disease-ontology.org/api/metadata/DOID:1761", "http://www.disease-ontology.org/api/metadata/DOID:225" ]