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[ "Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease." ]

[ "Gaucher disease" ]

[ "Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.", "Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries. ", "The 36-month results of switching from imiglucerase to taliglucerase alfa treatment in adults with GD provide further data on the clinical safety and efficacy of taliglucerase alfa beyond the initial 9 months of the original study.", "Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.", "Taliglucerase alfa is an intravenous enzyme replacement therapy approved for treatment of type 1 Gaucher disease (GD), and is the first available plant cell-expressed recombinant therapeutic protein. Herein, we report long-term safety and efficacy results of taliglucerase alfa in treatment-naïve adult patients with GD.", " These 36-month results of taliglucerase alfa in treatment-naïve adult patients with GD demonstrate continued improvement in disease parameters with no new safety concerns.", "Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease.", "Taliglucerase alfa, the first available plant cell-expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease (GD).", "Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.", "A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.", "These results support safety and efficacy of taliglucerase alfa for Gaucher disease.", "Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.", "Taliglucerase alfa for the treatment of Gaucher's disease.", "Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease.", "These results support safety and efficacy of taliglucerase alfa for Gaucher disease.", "These findings provide evidence of the efficacy and safety profile of taliglucerase alfa as an ERT for GD in patients previously treated with imiglucerase.", "This multicenter, randomized, double-blind, parallel-dose, 12-month study assessed efficacy and safety of taliglucerase alfa in pediatric patients with GD.", "A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase", "A Phase 3, multicenter, open-label, 9-month study assessed safety and efficacy of switching to taliglucerase alfa in adult and pediatric patients with GD treated with imiglucerase for at least the previous 2years", "These findings provide evidence of the efficacy and safety profile of taliglucerase alfa as an ERT for GD in patients previously treated with imiglucerase", "Clinical trials have demonstrated that taliglucerase alfa is efficacious, with a well-established safety profile in adult, ERT-naïve patients with symptomatic GD1, and for such patients previously treated with imiglucerase", "One study examined substrate reduction therapy in people with chronic neuronopathic (type 3) Gaucher disease who continued to receive enzyme replacement therapy.Treatment-naïve participants had similar increases in haemoglobin when comparing those receiving imiglucerase or alglucerase at 60 units/kg, imiglucerase or velaglucerase alfa at 60 U/kg, taliglucerase alfa at 30 units/kg or 60 units/kg, and velaglucerase alfa at 45 units/g or 60 units/kg. For platelet count response in participants with intact spleens, a benefit for imiglucerase over velaglucerase alfa at 60 units/kg was observed, mean difference -79.87 (95% confidence interval -137.57 to -22.17)", "These findings provide evidence of the efficacy and safety profile of taliglucerase alfa as an ERT for GD in patients previously treated with imiglucerase. ", "Taliglucerase alfa (Protalix Biotherapeutics, Israel) is a carrot-cell-expressed recombinant human beta-glucocerebrosidase recently approved in the United States for the treatment of type 1 Gaucher disease (GD). ", "These 36-month results of taliglucerase alfa in treatment-naïve adult patients with GD demonstrate continued improvement in disease parameters with no new safety concerns.", "A Phase 3, multicenter, open-label, 9-month study assessed safety and efficacy of switching to taliglucerase alfa in adult and pediatric patients with GD treated with imiglucerase for at least the previous 2years.", "Clinical trials have demonstrated that taliglucerase alfa is efficacious, with a well-established safety profile in adult, ERT-naïve patients with symptomatic GD1, and for such patients previously treated with imiglucerase.", "These data suggest that taliglucerase alfa has the potential to be a therapeutic treatment option for children with GD.", "Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.", "Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.", "A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27102949", "http://www.ncbi.nlm.nih.gov/pubmed/23980545", "http://www.ncbi.nlm.nih.gov/pubmed/27174694", "http://www.ncbi.nlm.nih.gov/pubmed/21235447", "http://www.ncbi.nlm.nih.gov/pubmed/24630271", "http://www.ncbi.nlm.nih.gov/pubmed/21900191", "http://www.ncbi.nlm.nih.gov/pubmed/27499018", "http://www.ncbi.nlm.nih.gov/pubmed/26053270", "http://www.ncbi.nlm.nih.gov/pubmed/22654679", "http://www.ncbi.nlm.nih.gov/pubmed/23199589", "http://www.ncbi.nlm.nih.gov/pubmed/24950666", "http://www.ncbi.nlm.nih.gov/pubmed/27839981", "http://www.ncbi.nlm.nih.gov/pubmed/25453586", "http://www.ncbi.nlm.nih.gov/pubmed/23046562", "http://www.ncbi.nlm.nih.gov/pubmed/27559188", "http://www.ncbi.nlm.nih.gov/pubmed/25812601", "http://www.ncbi.nlm.nih.gov/pubmed/22916340" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category" ]

[ "Formin is associated with Left-Right asymmetry in the pond snail and the frog.", "Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog" ]

[ "Left-Right Asymmetry" ]

[ "Formin Is Associated with Left-Right Asymmetry in the Pond Snail and the Frog", " Here, we report that a disabling mutation in one copy of a tandemly duplicated, diaphanous-related formin is perfectly associated with symmetry breaking in the pond snail. This is supported by the observation that an anti-formin drug treatment converts dextral snail embryos to a sinistral phenocopy, and in frogs, drug inhibition or overexpression by microinjection of formin has a chirality-randomizing effect in early (pre-cilia) embryos. Contrary to expectations based on existing models [3, 4 and 5], we discovered asymmetric gene expression in 2- and 4-cell snail embryos, preceding morphological asymmetry. As the formin-actin filament has been shown to be part of an asymmetry-breaking switch in vitro [6 and 7], together these results are consistent with the view that animals with diverse body plans may derive their asymmetries from the same intracellular chiral elements [8].", "Here, we report that a disabling mutation in one copy of a tandemly duplicated, diaphanous-related formin is perfectly associated with symmetry breaking in the pond snail.", "This is supported by the observation that an anti-formin drug treatment converts dextral snail embryos to a sinistral phenocopy, and in frogs, drug inhibition or overexpression by microinjection of formin has a chirality-randomizing effect in early (pre-cilia) embryos.", "Here, we report that a disabling mutation in one copy of a tandemly duplicated, diaphanous-related formin is perfectly associated with symmetry breaking in the pond snail.", "This is supported by the observation that an anti-formin drug treatment converts dextral snail embryos to a sinistral phenocopy, and in frogs, drug inhibition or overexpression by microinjection of formin has a chirality-randomizing effect in early (pre-cilia) embryos." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26923788" ]

[]

[ "http://www.uniprot.org/uniprot/FMNL1_HUMAN", "http://www.biosemantics.org/jochem#4263720", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D052078", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012908" ]

[ "Eucaryotes have a nucleolus, Procaryotes do not. Eucrayotes have a nuclear membrane, organelles and differ in transcription and translation. Procaryotes have polycistronic RNA and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes. ", "The nucleolus is the most prominent compartment in the nucleus and known as the site for ribosome biogenesis in eucaryotes. In contrast, there is no such equivalent structure for ribosome synthesis in procaryotes Eucaryotic and procaryotic organisms differ in two aspects of their translation machinery: polycistronic messengers are expressed as a sequence of individual proteins only in procaryotes, and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes.", "The nucleolus is the most prominent compartment in the nucleus and known as the site for ribosome biogenesis in eucaryotes. In contrast, there is no such equivalent structure for ribosome synthesis in procaryotes Eucaryotic and procaryotic organisms differ in two aspects of their translation machinery: polycistronic messengers are expressed as a sequence of individual proteins only in procaryotes, and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes. extra guanylate at the 5' end of mature E. coli tRNAHis is encoded in the gene and is found in tRNA as the result of an unusual cleavage by RNase P There are considerable differences of run distributions in DNA sequences of procaryotes, invertebrates and vertebrates. However, some interesting exceptions from this rule exist for the run distribution of adenine in procaryotes and for the arrangement of purine-pyrimidine runs in eucaryotes" ]

[]

[ "The nucleolus is the most prominent compartment in the nucleus and known as the site for ribosome biogenesis in eucaryotes. In contrast, there is no such equivalent structure for ribosome synthesis in procaryotes", "Eucaryotic and procaryotic organisms differ in two aspects of their translation machinery: polycistronic messengers are expressed as a sequence of individual proteins only in procaryotes, and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes.", "extra guanylate at the 5' end of mature E. coli tRNAHis is encoded in the gene and is found in tRNA as the result of an unusual cleavage by RNase P", " There are considerable differences of run distributions in DNA sequences of procaryotes, invertebrates and vertebrates.", "However, some interesting exceptions from this rule exist for the run distribution of adenine in procaryotes and for the arrangement of purine-pyrimidine runs in eucaryotes", "This was thought to be explained by the lack of mitochondria in procaryotes, the target site of uncoupling agents in eucaryotes", "Eucaryotic and procaryotic organisms differ in two aspects of their translation machinery: polycistronic messengers are expressed as a sequence of individual proteins only in procaryotes, and the initiation of protein synthesis proceeds with an initiator tRNA which is found to be modified (formylated) in procaryotes and not in eucaryotes. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16775624", "http://www.ncbi.nlm.nih.gov/pubmed/3271526", "http://www.ncbi.nlm.nih.gov/pubmed/7533711", "http://www.ncbi.nlm.nih.gov/pubmed/7786016", "http://www.ncbi.nlm.nih.gov/pubmed/98518", "http://www.ncbi.nlm.nih.gov/pubmed/2345155", "http://www.ncbi.nlm.nih.gov/pubmed/3023854" ]

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[ "Clearance of misfolded and aggregated proteins is central to cell survival. 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." ]

[]

[ "Clearance of misfolded and aggregated proteins is central to cell survival.", "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. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27477512" ]

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[ "Yes, numerous whole exome sequencing studies of ALzheimer patients have been conducted." ]

[ "yes" ]

[ "Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.", "We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants.", "Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at position 129 of the protein, further highlighting how very similar genotypes in PRNP result in strikingly different phenotypes.", "In the search for new genes in Alzheimer's disease, classic linkage-based and candidate-gene-based association studies have been supplanted by exome sequencing, genome-wide sequencing (for mendelian forms of Alzheimer's disease), and genome-wide association studies (for non-mendelian forms). ", "We performed whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family ", "Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22153900", "http://www.ncbi.nlm.nih.gov/pubmed/23237904", "http://www.ncbi.nlm.nih.gov/pubmed/24958194", "http://www.ncbi.nlm.nih.gov/pubmed/27822510", "http://www.ncbi.nlm.nih.gov/pubmed/22472873", "http://www.ncbi.nlm.nih.gov/pubmed/26522186" ]

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[ "GBshape provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution." ]

[ "GBshape" ]

[ "GBshape: a genome browser database for DNA shape annotations", "Our Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms. Additional genomes can easily be added using the GBshape framework. GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. As biological applications, we illustrate the periodicity of DNA shape features that are present in nucleosome-occupied sequences from human, fly and worm, and we demonstrate structural similarities between transcription start sites in the genomes of four Drosophila species", "GBshape: a genome browser database for DNA shape annotations.", "GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution.", "Our Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms.", "GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution. ", "GBshape can be used to visualize DNA shape annotations qualitatively in a genome browser track format, and to download quantitative values of DNA shape features as a function of genomic position at nucleotide resolution.", "GBshape: a genome browser database for DNA shape annotations.", "Our Genome Browser for DNA shape annotations (GBshape; freely available at http://rohslab.cmb.usc.edu/GBshape/) provides minor groove width, propeller twist, roll, helix twist and hydroxyl radical cleavage predictions for the entire genomes of 94 organisms." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25326329" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019991", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678" ]

[ "Yes, Stat4 is a transcription factor.\nStat4 is a member of the signal transducer and activator of transcription (STAT) family of molecules that localizes to the cytoplasm. STAT4 regulates various genes expression as a transcription factor after it is phosphorylated, dimerizes and translocates to the nucleus." ]

[ "yes" ]

[ "transcription factors T-bet and STAT4", "STAT4 is a member of the signal transducer and activator of transcription (STAT) family of molecules that localizes to the cytoplasm. STAT4 regulates various genes expression as a transcription factor after it is phosphorylated, dimerizes and translocates to the nucleus. ", "STAT4 is a latent cytosolic factor that encodes a transcription factor transmitting signals stimulated by cytokines. ", " To investigate the role of signal transduction and activation of transcription 4 (STAT4) in the development and progression of human hepatocellular carcinoma (HCC)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25178516", "http://www.ncbi.nlm.nih.gov/pubmed/25829541", "http://www.ncbi.nlm.nih.gov/pubmed/25798064", "http://www.ncbi.nlm.nih.gov/pubmed/25852285" ]

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[ "Yes. Promoter regions of the genes implicated in Rett Syndrome have been characterized using CAGE." ]

[ "yes" ]

[ "CAGE-defined promoter regions of the genes implicated in Rett Syndrome.", "Mutations in three functionally diverse genes cause Rett Syndrome. Although the functions of Forkhead box G1 (FOXG1), Methyl CpG binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5 (CDKL5) have been studied individually, not much is known about their relation to each other with respect to expression levels and regulatory regions. Here we analyzed data from hundreds of mouse and human samples included in the FANTOM5 project, to identify transcript initiation sites, expression levels, expression correlations and regulatory regions of the three genes.RESULTS: Our investigations reveal the predominantly used transcription start sites (TSSs) for each gene including novel transcription start sites for FOXG1. We show that FOXG1 expression is poorly correlated with the expression of MECP2 and CDKL5. We identify promoter shapes for each TSS, the predicted location of enhancers for each gene and the common transcription factors likely to regulate the three genes. Our data imply Polycomb Repressive Complex 2 (PRC2) mediated silencing of Foxg1 in cerebellum.CONCLUSIONS: Our analyses provide a comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome.", "CAGE-defined promoter regions of the genes implicated in Rett Syndrome", "CAGE-defined promoter regions of the genes implicated in Rett Syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25539566" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015518", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011401", "http://www.disease-ontology.org/api/metadata/DOID:1206" ]

[ "Since the first unequivocal description of RNA interference (RNAi) in 1998, it has remained one of the hottest topics under investigation, culminating in the award of a Nobel Prize to its discoverers in 2006." ]

[ "yes" ]

[ "Since the first unequivocal description of RNA interference (RNAi) in 1998, it has remained one of the hottest topics under investigation, culminating in the award of a Nobel Prize to its discoverers in 2006.", "RNA interference (RNAi) is considered one of the most powerful genomic tools which allows the study of drug discovery and understanding of the complex cellular processes by high-content screens. This field of study, which was the subject of 2006 Nobel Prize of medicine, has drastically changed the conventional methods of analysis of genes.", " Almost 10 years after Fire and Mello received the Nobel Prize for the discovery of this mechanism in flat worms, RNA interference is on the edge of becoming a new class of therapeutics." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20717561", "http://www.ncbi.nlm.nih.gov/pubmed/24235106", "http://www.ncbi.nlm.nih.gov/pubmed/26648823", "http://www.ncbi.nlm.nih.gov/pubmed/25048083" ]

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[ "Yes. Pds5 proteins are essential for cohesion establishment by allowing Smc3 acetylation by the cohesin acetyl transferases (CoATs) Esco1/2 and binding of Sororin." ]

[ "yes" ]

[ "Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres.", "Here, we demonstrate that Pds5 proteins are essential for cohesion establishment by allowing Smc3 acetylation by the cohesin acetyl transferases (CoATs) Esco1/2 and binding of Sororin. While both proteins contribute to telomere and arm cohesion, Pds5B is specifically required for centromeric cohesion. Furthermore, reduced accumulation of Aurora B at the inner centromere region in cells lacking Pds5B impairs its error correction function, promoting chromosome mis-segregation and aneuploidy. Our work supports a model in which the composition and function of cohesin complexes differs between different chromosomal regions.", "Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres.", "Here, we demonstrate that Pds5 proteins are essential for cohesion establishment by allowing Smc3 acetylation by the cohesin acetyl transferases (CoATs) Esco1/2 and binding of Sororin." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24141881" ]

[]

[ "http://www.uniprot.org/uniprot/PD5AA_XENLA", "http://www.uniprot.org/uniprot/PD5BA_XENLA", "http://www.uniprot.org/uniprot/PDS5A_RAT", "http://amigo.geneontology.org/amigo/term/GO:0034085", "http://www.uniprot.org/uniprot/PDS5B_RAT", "http://amigo.geneontology.org/amigo/term/GO:0034087", "http://www.uniprot.org/uniprot/PDS5B_MOUSE", "http://amigo.geneontology.org/amigo/term/GO:0034089" ]

[ "FUNC score includes Age, Glasgow Coma Scale, ICH location, volume and pre-ICH cognitive impairment." ]

[ "Age", "Glasgow Coma Scale", "ICH location", "ICH volume", "pre-ICH cognitive impairment" ]

[ "Age, Glasgow Coma Scale, ICH location, volume (all P<0.0001), and pre-ICH cognitive impairment (P=0.005) were independently associated with Glasgow Outcome Score>or = 4. The FUNC score was developed as a sum of individual points (0-11) based on strength of association with outcome. ", "Age, Glasgow Coma Scale, ICH location, volume (all P<0.0001), and pre-ICH cognitive impairment (P=0.005) were independently associated with Glasgow Outcome Score>or = 4." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18556582" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020299" ]

[ "Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane. The 4.0 Å cryo-EM structure of one of the most intricate enzyme systems, the respirasome, in the mitochondrial inner membrane is now available." ]

[ "In the inner mitochondrial membrane" ]

[ "he 4.0 Å cryo-EM structure of one of the most intricate enzyme systems, the respirasome, in the mitochondrial inner membrane", "Respirasomes are macromolecular assemblies of the respiratory chain complexes I, III and IV in the inner mitochondrial membrane." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27830641", "http://www.ncbi.nlm.nih.gov/pubmed/27912054" ]

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[ "MiRduplexSVM is a high-performing miRNA-duplex prediction and evaluation methodology. It's a method that combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model. It is the first model that provides precise information about all four ends of the miRNA duplex." ]

[]

[ "MiRduplexSVM: A High-Performing MiRNA-Duplex Prediction and Evaluation Methodology.", "Our method combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model, termed MiRduplexSVM. This is the first model that provides precise information about all four ends of the miRNA duplex. ", "In relation with recent confidence evaluation methods used in miRBase, MiRduplexSVM was successful in identifying high confidence potential miRNAs.", "Our method combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model, termed MiRduplexSVM.", "(b) In all comparisons, MiRduplexSVM shows superior performance, achieving up to a 60% increase in prediction accuracy for mammalian hairpins and can generalize very well on plant hairpins, without any special optimization.", "MiRduplexSVM: A High-Performing MiRNA-Duplex Prediction and Evaluation Methodology.", "In relation with recent confidence evaluation methods used in miRBase, MiRduplexSVM was successful in identifying high confidence potential miRNAs.", "Our method combines a unique problem representation and an unbiased optimization protocol to learn from mirBase19.0 an accurate predictive model, termed MiRduplexSVM.", "(b) In all comparisons, MiRduplexSVM shows superior performance, achieving up to a 60% increase in prediction accuracy for mammalian hairpins and can generalize very well on plant hairpins, without any special optimization." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25961860" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D035683" ]

[ " Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. ", "here, it is noted that if b cells are found to be the lymphocytes responsible for excess bmp-4 production in fop, use of rituximab, a monoclonal anti-cd20 antibody which effectively targets b cells, could be a less permanent and less risky treatment alternative for fop.", "Inhibitors of ALK2(ACVR1) are used for the treatment of FOP. Current therapies for FOP are Dorsomorphin analogues which function as BMP inhibitor. if B cells control excess BMP-4 production in FOP, use of Rituximab, a monoclonal which targets B cells, could be a treatment alternative for FOP." ]

[ "ALK2", "BMP" ]

[ " Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. ", "Small molecule inhibitors of the bone morphogenetic protein (BMP) receptor kinase ALK2 (ACVR1) are needed urgently to treat the progressively debilitating musculoskeletal disease fibrodysplasia ossificans progressiva (FOP).", "Dorsomorphin analogues, first identified in zebrafish, remain the only BMP inhibitor chemotype reported to date.", "By screening an assay panel of 250 recombinant human kinases we identified a highly selective 2-aminopyridine-based inhibitor K02288 with in vitro activity against ALK2 at low nanomolar concentrations similar to the current lead compound LDN-193189", "Here, it is noted that if B cells are found to be the lymphocytes responsible for excess BMP-4 production in FOP, use of Rituximab, a monoclonal anti-CD20 antibody which effectively targets B cells, could be a less permanent and less risky treatment alternative for FOP.", "A new mutation of the Noggin gene in a French Fybrodysplasia ossificans progressiva (FOP) family: Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of the muscles.", "Localization of the gene for fibrodysplasia ossificans progressiva (FOP) to chromosome 17q21-22.", "A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.", "Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.", "A new mutation of the Noggin gene in a French Fybrodysplasia ossificans progressiva (FOP) family: Fibrodysplasia ossificans progressiva (FOP) is a very rare disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of the muscles", "Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues", "Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients", "ACVR1, a therapeutic target of fibrodysplasia ossificans progressiva, is negatively regulated by miR-148a.", "These mutations represent new targets for therapeutic intervention in this otherwise incurable disease.", "In this study, we examined downstream signaling targets to study the BMP-Smad and BMP-p38 mitogen-activated protein kinase (MAPK) pathways in FOP. ", "Mutations in the ACVR1 gene are associated with Fibrodysplasia Ossificans Progressiva (FOP), a rare and extremely disabling disorder characterized by congenital malformation of the great toes and progressive heterotopic endochondral ossification in muscles and other non-skeletal tissues. ", "Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP).", "Fibrodysplasia ossificans progressiva (FOP), a rare disorder characterized by progressive ossification of connective tissue, is caused by an activating mutation in Acvr1 (the gene that encodes ACVR1/ALK2).", "This gene encodes the type I bone morphogenic protein receptor ALK2, with the residues affected identical to those that, when mutated in the germline, give rise to the congenital malformation syndrome fibrodysplasia ossificans progressiva (FOP), resulting in the transformation of soft tissue into bone.", "ACVR1, a therapeutic target of fibrodysplasia ossificans progressiva, is negatively regulated by miR-148a.", "A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family.", "Neofunction of ACVR1 in fibrodysplasia ossificans progressiva.", "The discovery of the FOP gene establishes a crucial milestone in understanding FOP, reveals a highly conserved target in the BMP signaling pathway for drug development and specifically stimulates therapeutic approaches for the development of inhibitors for ACVR1/ALK2 signaling.", "The discovery of the FOP gene establishes a critical milestone in understanding FOP, reveals a highly conserved druggable target in the TGF-beta/bone morphogenetic protein signaling pathway and compels therapeutic approaches for the development of small molecule signal transduction inhibitors for activin-like kinase-2." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15940369", "http://www.ncbi.nlm.nih.gov/pubmed/22011642", "http://www.ncbi.nlm.nih.gov/pubmed/25136070", "http://www.ncbi.nlm.nih.gov/pubmed/17967130", "http://www.ncbi.nlm.nih.gov/pubmed/23646137", "http://www.ncbi.nlm.nih.gov/pubmed/26695699", "http://www.ncbi.nlm.nih.gov/pubmed/24047559", "http://www.ncbi.nlm.nih.gov/pubmed/11076054", "http://www.ncbi.nlm.nih.gov/pubmed/23599718", "http://www.ncbi.nlm.nih.gov/pubmed/15288357", "http://www.ncbi.nlm.nih.gov/pubmed/23229308", "http://www.ncbi.nlm.nih.gov/pubmed/19795179", "http://www.ncbi.nlm.nih.gov/pubmed/26621707", "http://www.ncbi.nlm.nih.gov/pubmed/19400542", "http://www.ncbi.nlm.nih.gov/pubmed/16080294", "http://www.ncbi.nlm.nih.gov/pubmed/25413979", "http://www.ncbi.nlm.nih.gov/pubmed/16753021", "http://www.ncbi.nlm.nih.gov/pubmed/18830232", "http://www.ncbi.nlm.nih.gov/pubmed/17477807", "http://www.ncbi.nlm.nih.gov/pubmed/18328989", "http://www.ncbi.nlm.nih.gov/pubmed/19929436", "http://www.ncbi.nlm.nih.gov/pubmed/22408438", "http://www.ncbi.nlm.nih.gov/pubmed/26058333", "http://www.ncbi.nlm.nih.gov/pubmed/22977237", "http://www.ncbi.nlm.nih.gov/pubmed/26896819", "http://www.ncbi.nlm.nih.gov/pubmed/9042799", "http://www.ncbi.nlm.nih.gov/pubmed/26626181", "http://www.ncbi.nlm.nih.gov/pubmed/16831905", "http://www.ncbi.nlm.nih.gov/pubmed/26333933", "http://www.ncbi.nlm.nih.gov/pubmed/11140409", "http://www.ncbi.nlm.nih.gov/pubmed/22408652" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:13374", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055415", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D052005" ]

[ "The Unipept web application (http://unipept.ugent.be) supports biodiversity analysis of large and complex metaproteome samples using tryptic peptide information obtained from shotgun MS/MS experiments. The application designed for metaproteomics analysis with a focus on interactive datavisualization." ]

[]

[ "Unipept is an open source web application that is designed for metaproteomics analysis with a focus on interactive datavisualization. ", "The Unique Peptide Finder (http://unipept.ugent.be/peptidefinder) is an interactive web application to quickly hunt for tryptic peptides that are unique to a particular species, genus, or any other taxon.", "Computations are extremely fast since they are underpinned by the Unipept database, the lowest common ancestor algorithm implemented in Unipept and modern web technologies that facilitate in-browser data storage and parallel processing.", "Unipept (http://unipept.ugent.be) is a web application that offers a user-friendly way to explore the biodiversity of complex metaproteome samples by providing interactive visualizations.", "Outputted results are compatible with tools for taxonomic and functional characterization (e.g. Unipept, MEGAN5)", "The Unipept web application (http://unipept.ugent.be) supports biodiversity analysis of large and complex metaproteome samples using tryptic peptide information obtained from shotgun MS/MS experiments." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26819472", "http://www.ncbi.nlm.nih.gov/pubmed/26058579", "http://www.ncbi.nlm.nih.gov/pubmed/27380722", "http://www.ncbi.nlm.nih.gov/pubmed/23153116", "http://www.ncbi.nlm.nih.gov/pubmed/25477242" ]

[]

[]

[ "The gamma-secretase complex has a decisive role in the development of Alzheimer's disease, as it cleaves a precursor protein to create the amyloid beta peptide whose aggregates form the senile plaques encountered in the brains of patients. Gamma-secretase is a member of the intramembrane-cleaving proteases which process their transmembrane substrates within the bilayer." ]

[ "cleaves a precursor protein to create the amyloid beta peptide" ]

[ "gamma-Secretase is critically involved in the Notch pathway and in Alzheimer's disease. ", "Presenilins are the catalytic subunit of the large gamma-secretase complex, that promotes intramembranous proteolysis of the beta-amyloid precursor protein (APP), resulting in the production of beta-amyloid (A beta). Mutant presenilin causes early-onset familial Alzheimer's disease (FAD), is related to abnormal Ca(2+) signaling, and render cells vulnerable to cell death. ", "Presenilins form the catalytic part of the gamma-secretases, protein complexes that are responsible for the intramembranous cleavage of transmembrane proteins. The presenilins are involved in several biological functions, but are best known for their role in the generation of the beta-amyloid (Abeta) peptide in Alzheimer's disease and are therefore thought to be important drug targets for this disorder.", "Amyloid-beta peptides (Abeta) generated by proteolysis of the beta-amyloid precursor protein (APP) by beta- and gamma-secretases play an important role in the pathogenesis of Alzheimer's disease (AD). ", "The gamma-secretase complex has a decisive role in the development of Alzheimer's disease, in that it cleaves a precursor to create the amyloid beta peptide whose aggregates form the senile plaques encountered in the brains of patients. Gamma-secretase is a member of the intramembrane-cleaving proteases which process their transmembrane substrates within the bilayer.", "The GxxxG motif in the transmembrane domain of AbetaPP plays an essential role in the interaction of CTF beta with the gamma-secretase complex and the formation of amyloid-beta.", "Gamma-secretase-mediated processing of the amyloid-beta protein precursor (AbetaPP) is a crucial step in the formation of the amyloid-beta peptide (Abeta), but little is known about how the substrate AbetaPP interacts with the gamma-secretase complex. ", "Thus, the present study revealed an essential role for the GxxxG motif in the interaction of AbetaPP with the gamma-secretase complex and the formation of Abeta.", "Taken together, our results suggest an important role of hypoxia in modulating the APP processing by facilitating both beta- and gamma-cleavage which may result in a significant increase of Abeta generation.", "The gamma-secretase, composed of presenilin-1 (PS1) or presenilin-2 (PS2), nicastrin (NCT), anterior pharynx-defective phenotype 1 (APH-1), and PEN-2, is critical for the development of Alzheimer's disease (AD). ", "APP is a ubiquitous membrane protein that is physiologically processed by site-specific proteolysis firstly by alpha- or beta-secretases, releasing a large fragment called APP(S) that contains most of the extracellular sequences of APP, a small extracellular stub, the transmembrane region and the cytoplasmic tail of APP (;AICD'-APP intracellular domain). These are subsequently cleaved by gamma-secretase at multiple sites in the transmembrane region, releasing small peptides, Abeta(1-40) and Abeta(1-42), the major components of AD-associated amyloid fibrils. ", "As PS1 has been shown to play a critical role in facilitating gamma-secretase activity, and mutations in this protein are associated with familial AD (FAD), we have cloned it from SAMP8 mouse hippocampus and compared its sequence with those of other species.", "An increased amount or mutation(s) in PS1, which alters the stoichiometric balance of the gamma-secretase complex, may be the cause of aberrant or increased processing of APP, resulting in Abeta accumulation leading to loss of memory.", "The gamma-secretase complex plays a role in Alzheimer's disease and cancer progression. ", "The gamma-secretase complex plays a role in Alzheimer's disease and cancer progression.", "Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities", "Synthesis and SAR Studies of Fused Oxadiazines as γ-Secretase Modulators for Treatment of Alzheimers Disease", "Pathological activity of familial Alzheimer's disease-associated mutant presenilin can be executed by six different gamma-secretase complexes.", "The reconstituted enzyme processes C99 and the Notch-like substrate N160 and displays the characteristic features of gamma-secretase in terms of sensitivity to a gamma-secretase inhibitor, upregulation of Abeta42 production by a familial Alzheimer's disease (FAD) mutation in the APP gene, and downregulation of Notch processing by PS1 FAD mutations. ", "The Aph1B complex contributes to total gamma-secretase activity in the human brain, and thus specific targeting of Aph1B-containing gamma-secretase complexes may help generate less toxic therapies for Alzheimer's disease.", "Genetic analysis of familial Alzheimer's disease has revealed that mutations in the gamma-secretase enzyme presenilin promote toxic Abeta secretion; however, presenilin mutations might also influence tau hyperphosphorylation and neurodegeneration through gamma-secretase-independent mechanisms. ", "Here, we show that familial Alzheimer's disease mutations clustered near the sites of gamma-secretase cleavage actually decrease gamma-secretase-mediated release of the intracellular fragment of APP (CTFgamma). ", "Beside the well investigated role of presenilins as the catalytic unit in γ-secretase complex, their involvement in regulation of intracellular calcium homeostasis has recently come into more focus of Alzheimer's disease research.", "The γ-secretase complex is a promising target in Alzheimer's disease because of its role in the amyloidogenic processing of β-amyloid precursor protein.", "Genetic studies of early-onset familial Alzheimer's disease cases revealed causative mutations in the genes encoding β-amyloid precursor protein and the γ-secretase-complex components presenilin-1 and presenilin-2, supporting an important role of β-amyloid in the pathogenesis of Alzheimer's disease.", "Assembly, maturation, and trafficking of the gamma-secretase complex in Alzheimer's disease.", "Gamma-secretase was first recognized because of its role in the production of Abeta peptides that are pathogenic in Alzheimer's disease.", "Regulation of gamma-secretase activity in Alzheimer's disease.", "Drugs that regulate the production of Abeta by inhibiting or modulating gamma-secretase activity could provide a disease-modifying effect on Alzheimer's disease, although recent studies suggest that gamma-secretase plays important roles in cellular signaling including Notch.", "The Aph1B complex contributes to total gamma-secretase activity in the human brain, and thus specific targeting of Aph1B-containing gamma-secretase complexes may help generate less toxic therapies for Alzheimer's disease..", "The gamma-secretase complex is therefore believed to be critical in the pathogenesis of Alzheimer's disease.", "gamma-Secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18320103", "http://www.ncbi.nlm.nih.gov/pubmed/26559975", "http://www.ncbi.nlm.nih.gov/pubmed/24900409", "http://www.ncbi.nlm.nih.gov/pubmed/17298085", "http://www.ncbi.nlm.nih.gov/pubmed/15766275", "http://www.ncbi.nlm.nih.gov/pubmed/19299585", "http://www.ncbi.nlm.nih.gov/pubmed/19958468", "http://www.ncbi.nlm.nih.gov/pubmed/20600609", "http://www.ncbi.nlm.nih.gov/pubmed/18063223", "http://www.ncbi.nlm.nih.gov/pubmed/23316412", "http://www.ncbi.nlm.nih.gov/pubmed/20035833", "http://www.ncbi.nlm.nih.gov/pubmed/18038124", "http://www.ncbi.nlm.nih.gov/pubmed/17560791", "http://www.ncbi.nlm.nih.gov/pubmed/16675392", "http://www.ncbi.nlm.nih.gov/pubmed/15992373", "http://www.ncbi.nlm.nih.gov/pubmed/19625750", "http://www.ncbi.nlm.nih.gov/pubmed/16804564", "http://www.ncbi.nlm.nih.gov/pubmed/23379308", "http://www.ncbi.nlm.nih.gov/pubmed/18393798", "http://www.ncbi.nlm.nih.gov/pubmed/20445084", "http://www.ncbi.nlm.nih.gov/pubmed/19376115", "http://www.ncbi.nlm.nih.gov/pubmed/19181896", "http://www.ncbi.nlm.nih.gov/pubmed/21487536", "http://www.ncbi.nlm.nih.gov/pubmed/20129170", "http://www.ncbi.nlm.nih.gov/pubmed/16944319" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000544", "http://www.disease-ontology.org/api/metadata/DOID:10652", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012380", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053829" ]

[ "The syndromes that are associated with heterochromia iridum are:\n1) Ascher's syndrome\n2) Waardenburg Syndrome type II (WS2)\n3) Horner's syndrome." ]

[ "Ascher's syndrome", "Waardenburg Syndrome type II", "WS2", "WS Type II", "Horner's syndrome" ]

[ "To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.", " Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. ", "Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. ", "The association of congenital Horner's syndrome and hypochromia iridum without anhidrosis is highly suggestive of sympathetic pathway injury early in life. ", "The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. ", "Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. ", "WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.", "Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness.", "To our knowledge, this is the first reported case of Ascher's syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament.", "Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II.", "Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients.", "We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4).", "Heterochromia iridis and Horner's syndrome due to paravertebral neurilemmoma.", "[Iris heterochromia in acquired Horner's syndrome].", "BACKGROUND: Heterochromia iridis, asymmetry of iris pigmentation, has been well described with congenital Horner syndrome.", "A case of heterochromia iridis and Horner's syndrome is reported in a 7-year old girl with paravertebral neurilemmoma.", "We present the genetic analyses conducted on a three-generation family (14 individuals) with three members affected with isolated-Hirschsprung disease (HSCR) and one with HSCR and heterochromia iridum (syndromic-HSCR), a phenotype reminiscent of Waardenburg-Shah syndrome (WS4)", "To our knowledge, this is the first reported case of Aschers syndrome associated with iris coloboma, heterochromia iridum, and narrowing of horizontal palpebral fissure and decreased outer intercanthal distance secondary to lengthening of lateral canthal ligament", "WAARDENBURGS SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION", "Waardenburgs syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness", "Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients", "Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. ", "A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome). ", "Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II.", "Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients.", "WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25971175", "http://www.ncbi.nlm.nih.gov/pubmed/22174915", "http://www.ncbi.nlm.nih.gov/pubmed/24194866", "http://www.ncbi.nlm.nih.gov/pubmed/6823113", "http://www.ncbi.nlm.nih.gov/pubmed/23840513", "http://www.ncbi.nlm.nih.gov/pubmed/21339912", "http://www.ncbi.nlm.nih.gov/pubmed/7702105", "http://www.ncbi.nlm.nih.gov/pubmed/20199465", "http://www.ncbi.nlm.nih.gov/pubmed/17878817", "http://www.ncbi.nlm.nih.gov/pubmed/1480396", "http://www.ncbi.nlm.nih.gov/pubmed/8092450", "http://www.ncbi.nlm.nih.gov/pubmed/8981698", "http://www.ncbi.nlm.nih.gov/pubmed/12825064", "http://www.ncbi.nlm.nih.gov/pubmed/14166458", "http://www.ncbi.nlm.nih.gov/pubmed/16814183", "http://www.ncbi.nlm.nih.gov/pubmed/16826074", "http://www.ncbi.nlm.nih.gov/pubmed/3792843" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577" ]

[ "Tanezumab is a humanized monoclonal antibody against nerve growth factor." ]

[ "nerve growth factor", "NGF" ]

[ "Nerve growth factor inhibition with tanezumab influences weight-bearing and subsequent cartilage damage in the rat medial meniscal tear model.", "OBJECTIVE: To investigate whether the effects of nerve growth factor (NGF) inhibition with tanezumab on rats with medial meniscal tear (MMT) effectively model rapidly progressive osteoarthritis (RPOA) observed in clinical trials.", " Current research focuses on the development of new OA drugs (such as sprifermin/recombinant human fibroblast growth factor-18, tanezumab/monoclonal antibody against β-nerve growth factor), which aims for more effectiveness and less incidence of adverse effects than the traditional ones.", "Areas covered: This manuscript is a review that examines both the pharmacological properties and clinical studies of tanezumab, the most widely studied antibody to NGF, for management of osteoarthritis (OA) and low back pain. ", "OBJECTIVE: Evaluate efficacy and safety of tanezumab, a humanized monoclonal antibody against nerve growth factor, in neuropathic pain.", "In preclinical studies, tanezumab, and its murine precursor muMab-911, effectively targeted the NGF pathway in various chronic and inflammatory pain models.", "Tanezumab (RN-624), a first-in-class recombinant humanized mAb targeting NGF, is being developed by Pfizer Inc for the potential treatment of pain associated with several conditions.", "Given that tanezumab is an antibody, the drug demonstrates the general advantages of this class of products (including good specificity and favorable pharmacokinetics), and also appears to be particularly well suited for targeting the chronic and inflammatory-mediating pain actions of NGF and its receptor system.", "In this randomized, double-blind, placebo controlled phase 2 study we investigated tanezumab, a humanized monoclonal antibody that specifically inhibits nerve growth factor as a treatment for interstitial cystitis pain.Patients with interstitial cystitis received a single intravenous dose of 200 μg/kg tanezumab or placebo", "Nerve safety of tanezumab, a nerve growth factor inhibitor for pain treatment.", "In preclinical studies, tanezumab, and its murine precursor muMab-911, effectively targeted the NGF pathway in various chronic and inflammatory pain models.", "Tanezumab (RN-624), a first-in-class recombinant humanized mAb targeting NGF, is being developed by Pfizer Inc for the potential treatment of pain associated with several conditions.", "Given that tanezumab is an antibody, the drug demonstrates the general advantages of this class of products (including good specificity and favorable pharmacokinetics), and also appears to be particularly well suited for targeting the chronic and inflammatory-mediating pain actions of NGF and its receptor system.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22004765", "http://www.ncbi.nlm.nih.gov/pubmed/18505735", "http://www.ncbi.nlm.nih.gov/pubmed/24452657", "http://www.ncbi.nlm.nih.gov/pubmed/27936977", "http://www.ncbi.nlm.nih.gov/pubmed/25326242", "http://www.ncbi.nlm.nih.gov/pubmed/21130822", "http://www.ncbi.nlm.nih.gov/pubmed/23628600", "http://www.ncbi.nlm.nih.gov/pubmed/21696889", "http://www.ncbi.nlm.nih.gov/pubmed/21420111", "http://www.ncbi.nlm.nih.gov/pubmed/24830649", "http://www.ncbi.nlm.nih.gov/pubmed/24809946", "http://www.ncbi.nlm.nih.gov/pubmed/27381034", "http://www.ncbi.nlm.nih.gov/pubmed/23707270", "http://www.ncbi.nlm.nih.gov/pubmed/24691709", "http://www.ncbi.nlm.nih.gov/pubmed/21802499", "http://www.ncbi.nlm.nih.gov/pubmed/25527221", "http://www.ncbi.nlm.nih.gov/pubmed/25073573", "http://www.ncbi.nlm.nih.gov/pubmed/20942668", "http://www.ncbi.nlm.nih.gov/pubmed/23852695", "http://www.ncbi.nlm.nih.gov/pubmed/23010344", "http://www.ncbi.nlm.nih.gov/pubmed/26962464", "http://www.ncbi.nlm.nih.gov/pubmed/26940379", "http://www.ncbi.nlm.nih.gov/pubmed/25594611", "http://www.ncbi.nlm.nih.gov/pubmed/23028238", "http://www.ncbi.nlm.nih.gov/pubmed/20140821" ]

[]

[]

[ "Yes, plasmepsins, which are essential Plasmodium proteases, could be highly promising anti-malarial drug targets." ]

[ "yes" ]

[ "Fighting malaria: structure-guided discovery of nonpeptidomimetic plasmepsin inhibitors.", "Given that the parasite needs the resulting amino acid building blocks for its growth and development, plasmepsins are an important antimalarial drug target. ", "Due to early crystallographic evidence, plasmepsin II (Plm II) emerged as well explored target to develop novel antimalarials as well as a starting point to develop inhibitors targeting some other subtypes of plasmepsins i.e. Plm I, II, IV and V. With the advancements in drug discovery, several computational and synthetic approaches were employed in order to develop novel inhibitors targeting Plm II. ", "Structural basis for plasmepsin V inhibition that blocks export of malaria proteins to human erythrocytes.", "Plasmepsin V, an essential aspartyl protease of malaria parasites, has a key role in the export of effector proteins to parasite-infected erythrocytes. Consequently, it is an important drug target for the two most virulent malaria parasites of humans, Plasmodium falciparum and Plasmodium vivax.", "Plasmepsin V (PmV) is an essential Plasmodium protease and a highly promising antimalarial target, which still lacks molecular characterization and drug-like inhibitors.", "Our inhibitors act 'on-target', confirmed by cellular interference of PmV function and biochemical interaction with inhibitors. ", "Our work disclosed novel pursuable drug design strategies for highly efficient PmV inhibition highlighting novel molecular elements necessary for picomolar activity against PmV. All the presented data are discussed in respect to human aspartic proteases and previously reported inhibitors, highlighting differences and proposing new strategies for drug development.", "High binding likeness on antimalarial target plasmepsin was detected through molecular docking. ", "This provides the first direct evidence that PMV activity is essential for protein export in Plasmodium spp. and for parasite survival in human erythrocytes and validates PMV as an antimalarial drug target.", "The export mechanism involves the Plasmodium export element (PEXEL), which is a cleavage site for the parasite protease, Plasmepsin V (PMV). ", "Plasmepsin II (PM II) is an attractive target for anti-malaria drug discovery, which involves in host hemoglobin degradation in the acidic food vacuole.", "These methods are utilized to search for inhibitors of the aspartyl proteases, plasmepsin II and cathepsin D. Plasmepsin II, a protease found in the malaria parasite, hydrolyzes human hemoglobin, the nutrient source for the parasite and is a new target for anti-malaria therapy.", "Given recent advances in understanding the fundamental roles of the various plasmepsins, it is likely that the most effective antimalarial plasmepsin targets will be the non-digestive vacuole plasmepsins.", "Plasmepsins (PMs) are essential proteases of the plasmodia parasites and are therefore promising targets for developing drugs against malaria.", "Therefore, the plasmepsins of malaria parasites have been recognized as attractive antimalarial drug targets.", "As inhibition of plasmepsins leads to the parasite's death, these enzymes can be utilized as potential drug targets.", "falciparum plasmepsins II and IV make structure-based drug design of antimalarial compounds that focus on inhibiting plasmepsins possible.", "The malarial parasite encodes two homologous aspartic proteases, plasmepsins I and II, which are essential components of its hemoglobin-degradation pathway and are novel targets for antimalarial drug development.", "vivax plasmepsins (PvPMs) from different geographical regions are of utmost importance for drugs and vaccine designs for anti-malarial strategies.", "In P.falciparum, plasmepsins I, II, IV and HAP have been directly implicated in hemoglobin degradation during malaria infection, and are now considered targets for anti-malarial drug design.", "These results shed light on the role of V105 and T108 residues in plasmepsin specificities, and they should be useful in structure-based design of novel, selective inhibitors that may serve as antimalarial drugs.", "The aspartic proteases plasmepsins, whose inhibition leads to parasite death, are classified as targets for the design of potent drugs.", "A large compound library of about 1 million chemical compounds was docked on 5 different targets of plasmepsins using two different docking software, namely FlexX and AutoDock.", "Plasmodium aspartic proteases known as plasmepsins play an important role on haemoglobin degradation and are being studied as drug targets for chemotherapy of malaria.", "Our study revealed about 100 parasite-coded gene products that included many known drug targets such as Pf hypoxanthine guanine phosphoribosyl transferase, Pf L-lactate dehydrogenase, and Plasmepsins.", "The two aspartic proteases, plasmepsins I and II, from Plasmodium falciparum have recently emerged as potential targets.", "Plasmepsins are highly promising as drug targets, especially when combined with the inhibition of falcipains that are also involved in hemoglobin catabolism.", "Among such enzymes, Plasmepsins (aspartic proteases) and, especially, Falcipains (cysteine proteases) are highly promising antimalarial drug targets.", "The high sequence conservations between the plasmepsins from the isolates support the notion that the enzymes could be reliable targets for new antimalarial chemotherapeutics.", "Due to early crystallographic evidence, plasmepsin II (Plm II) emerged as well explored target to develop novel antimalarials as well as a starting point to develop inhibitors targeting some other subtypes of plasmepsins i.e.", "Plasmepsin, an aspartic protease, which is involved in the hemoglobin breakdown into smaller peptides emerged as a crucial target to develop new chemical entities to counter malaria.", "were employed in order to develop new chemical entities targeting Plm II.", "With the advancements in drug discovery, several computational and synthetic approaches were employed in order to develop novel inhibitors targeting Plm II.", "vivax plasmepsins (PvPMs) from different geographical regions are of utmost importance for drugs and vaccine designs for anti-malarial strategies..", "We developed a potent inhibitor of plasmepsin V, called WEHI-842, which directly mimics the Plasmodium export element (PEXEL).", "In order to validate appropriate use of PM4 as potential anti-malarial drug target, studies on genetic and structural variations among P.", "Over the past decade, much effort has been placed towards developing plasmepsin inhibitors as antimalarial agents, particularly targeting the digestive vacuole." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12767832", "http://www.ncbi.nlm.nih.gov/pubmed/25827401", "http://www.ncbi.nlm.nih.gov/pubmed/21334328", "http://www.ncbi.nlm.nih.gov/pubmed/26214367", "http://www.ncbi.nlm.nih.gov/pubmed/18442137", "http://www.ncbi.nlm.nih.gov/pubmed/17727268", "http://www.ncbi.nlm.nih.gov/pubmed/16838300", "http://www.ncbi.nlm.nih.gov/pubmed/15181345", "http://www.ncbi.nlm.nih.gov/pubmed/19472268", "http://www.ncbi.nlm.nih.gov/pubmed/21136953", "http://www.ncbi.nlm.nih.gov/pubmed/14636976", "http://www.ncbi.nlm.nih.gov/pubmed/8816746", "http://www.ncbi.nlm.nih.gov/pubmed/11841219", "http://www.ncbi.nlm.nih.gov/pubmed/24975562", "http://www.ncbi.nlm.nih.gov/pubmed/23466235", "http://www.ncbi.nlm.nih.gov/pubmed/16054370", "http://www.ncbi.nlm.nih.gov/pubmed/12435452", "http://www.ncbi.nlm.nih.gov/pubmed/16138859", "http://www.ncbi.nlm.nih.gov/pubmed/25719272", "http://www.ncbi.nlm.nih.gov/pubmed/22242846", "http://www.ncbi.nlm.nih.gov/pubmed/21382523", "http://www.ncbi.nlm.nih.gov/pubmed/27718413", "http://www.ncbi.nlm.nih.gov/pubmed/24468190", "http://www.ncbi.nlm.nih.gov/pubmed/26566224", "http://www.ncbi.nlm.nih.gov/pubmed/19437467", "http://www.ncbi.nlm.nih.gov/pubmed/9561244", "http://www.ncbi.nlm.nih.gov/pubmed/21760810", "http://www.ncbi.nlm.nih.gov/pubmed/17585371", "http://www.ncbi.nlm.nih.gov/pubmed/24983235", "http://www.ncbi.nlm.nih.gov/pubmed/20056606", "http://www.ncbi.nlm.nih.gov/pubmed/21428877", "http://www.ncbi.nlm.nih.gov/pubmed/15011947" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000962", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015195", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016780", "http://www.disease-ontology.org/api/metadata/DOID:12365", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008288" ]

[ "community-associated methicillin resistant staphylococcus aureus (ca-mrsa) has become a severe health concern because of its treatment difficulties.", "Methicillin resistant Staphylococcus aureus (MRSA) has become a severe health concern because of its treatment difficulties.", "(MRSA, methicillin-resistant S. aureus)" ]

[ "methicillin-resistant S. aureus", "MRSA" ]

[ "(MRSA, methicillin-resistant S. aureus)", "Community-associated methicillin resistant Staphylococcus aureus (CA-MRSA) has become a severe health concern because of its treatment difficulties.", "We investigated the distribution of MRSA (methicillin-resistant Staphylococcus aureus) on and around six patients with MRSA infection in our neurosurgical ward.", "The aim of this study was to assess to what extent patients with meticillin-resistant Staphylococcus aureus (MRSA) at respiratory sites shed viable MRSA into the air of hospital rooms.", "Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) is increasing in prevalence among asymptomatic carriers and in cases of paediatric soft-tissue infections alike.", "Most of MRSA strains and a part of methicillin-susceptible S. aureus (MSSA) strains harbored unique combinations of non-ß-lactamase genes aac(6)/aph(2″), aph(3)-III, ant (4,4″), ermA, ermC, mrsA, tetM, and tetK", "Healthcare- and Community-Associated Methicillin-Resistant Staphylococcus aureus (MRSA) and Fatal Pneumonia with Pediatric Deaths in Krasnoyarsk, Siberian Russia: Unique MRSAs Multiple Virulence Factors, Genome, and Stepwise Evolution", "It was found in the present study that combined use of fusidic acid (FA) and berberine chloride (BBR) offered an in vitro synergistic action against 7 of the 30 clinical methicillin-resistant Staphylococcus aureus (MRSA) strains, with a fractional inhibitory concentration (FIC) index ranging from 0.5 to 0.19", "Vancomycin MIC creep in methicillin-resistant Staphylococcus aureus (MRSA) isolates from 2006 to 2010 in a hospital in China", "To assess whether vancomycin minimum inhibitory concentration (MIC) creeps among clinical isolates of methicillin-resistant Staphylococcus aureus (MRSA) in a regional hospital in China", "Detection of methicillin-resistant Staphylococcus aureus (MRSA) in specimens from various body sites: performance characteristics of the BD GeneOhm MRSA assay, the Xpert MRSA assay, and broth-enriched culture in an area with a low prevalence of MRSA infections.", "Rapid detection of Methicillin-Resistant Staphylococcus aureus MRSA in nose, groin, and axilla swabs by the BD GeneOhm MRSA achromopeptidase assay and comparison with culture.", "Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.", "Comparison of the Xpert methicillin-resistant Staphylococcus aureus (MRSA) assay, BD GeneOhm MRSA assay, and culture for detection of nasal and cutaneous groin colonization by MRSA.", "Comparison of the BD Max methicillin-resistant Staphylococcus aureus (MRSA) assay and the BD GeneOhm MRSA achromopeptidase assay with direct- and enriched-culture techniques using clinical specimens for detection of MRSA.", "Comparison of MRSASelect Agar, CHROMagar Methicillin-Resistant Staphylococcus aureus (MRSA) Medium, and Xpert MRSA PCR for detection of MRSA in Nares: diagnostic accuracy for surveillance samples with various bacterial densities.", "Rapid detection of methicillin-resistant Staphylococcus aureus (MRSA) in diverse clinical specimens by the BD GeneOhm MRSA assay and comparison with culture.", "Multicenter evaluation of the Cepheid Xpert methicillin-resistant Staphylococcus aureus (MRSA) test as a rapid screening method for detection of MRSA in nares.", "Prospective comparison of the clinical impacts of heterogeneous vancomycin-intermediate methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-susceptible MRSA.", "Long-term control of endemic hospital-wide methicillin-resistant Staphylococcus aureus (MRSA): the impact of targeted active surveillance for MRSA in patients and healthcare workers.", "Methicillin-resistant Staphylococcus aureus (MRSA) infections pose a major challenge in health care, yet the limited heterogeneity within this group hinders molecular investigations of related outbreaks.", "In a previous study, we reported that two kaempferol glycosides isolated from Laurus nobilis L., kaempferol-3-O-alpha-L-(2'',4''-di-E-p-coumaroyl)-rhamnoside (C2) and kaempferol-3-O-alpha-L-(2''-E-p-coumaroyl-4''-Z-p-coumaroyl)-rhamnoside (C3), showed strong antibacterial activities against methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant enterococci.", "This article explains what methicillin-resistant Staphylococcus aureus (MRSA) is, how it is spread and what the real challenges are in healthcare settings in the UK.", "Methicillin-resistant Staphylococcus aureus (MRSA) is an emerging threat to public health, especially in correctional settings.", "There are few more compelling questions in clinical microbiology today than the issue of whether or not to screen for the presence of methicillin-resistant Staphylococcus aureus (MRSA), with the results being used to institute infection control interventions aimed at preventing transmission of MRSA in health care environments.", "Methicillin-resistant Staphylococcus aureus (MRSA) detection: comparison of two molecular methods (IDI-MRSA PCR assay and GenoType MRSA Direct PCR assay) with three selective MRSA agars (MRSA ID, MRSASelect, and CHROMagar MRSA) for use with infection-control swabs.", "Do methicillin resistant staphylococcus (MRSA) carrier patients influence MRSA infection more than MRSA-carrier medical officers and MRSA-carrier family?", "methicillin-resistant Staphylococcus aureus (MRSA)", " methicillin-resistant Staphylococcus aureus (CA-MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA) ", "methicillin-resistant Staphylococcus aureus (MRSA) infections", "methicillin resistant Staphylococcus aureus (MRSA CC398) ", " (methicillin-resistant Staphylococcus aureus) MRSA ", "Methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA) ", "methicillin-resistant Staphylococcus aureus (MRSA)", "Methicillin-resistant Staphylococcus aureus", " methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus-(CA-MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "Methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA)", "methicillin-resistant Staphylococcus aureus (HA-MRSA)", "methicillin-resistant Staphylococcus aureus (MRSA) ", "methicillin-resistant Staphylococcus aureus (MRSA).", "methicillin-resistant Staphylococcus aureus (MRSA)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18347206", "http://www.ncbi.nlm.nih.gov/pubmed/8851953", "http://www.ncbi.nlm.nih.gov/pubmed/26684366", "http://www.ncbi.nlm.nih.gov/pubmed/22291965", "http://www.ncbi.nlm.nih.gov/pubmed/15472807", "http://www.ncbi.nlm.nih.gov/pubmed/24267132", "http://www.ncbi.nlm.nih.gov/pubmed/27025639", "http://www.ncbi.nlm.nih.gov/pubmed/17581935", "http://www.ncbi.nlm.nih.gov/pubmed/15884297", "http://www.ncbi.nlm.nih.gov/pubmed/27721155", "http://www.ncbi.nlm.nih.gov/pubmed/27112442", "http://www.ncbi.nlm.nih.gov/pubmed/19130105", "http://www.ncbi.nlm.nih.gov/pubmed/19777772", "http://www.ncbi.nlm.nih.gov/pubmed/21075466", "http://www.ncbi.nlm.nih.gov/pubmed/19732087", "http://www.ncbi.nlm.nih.gov/pubmed/19162372", "http://www.ncbi.nlm.nih.gov/pubmed/27736763", "http://www.ncbi.nlm.nih.gov/pubmed/12723397", "http://www.ncbi.nlm.nih.gov/pubmed/21571749", "http://www.ncbi.nlm.nih.gov/pubmed/19252301", "http://www.ncbi.nlm.nih.gov/pubmed/23756924", "http://www.ncbi.nlm.nih.gov/pubmed/23824338", "http://www.ncbi.nlm.nih.gov/pubmed/24322533", "http://www.ncbi.nlm.nih.gov/pubmed/22814471", "http://www.ncbi.nlm.nih.gov/pubmed/19129414", "http://www.ncbi.nlm.nih.gov/pubmed/20071545", "http://www.ncbi.nlm.nih.gov/pubmed/26047024", "http://www.ncbi.nlm.nih.gov/pubmed/25108628", "http://www.ncbi.nlm.nih.gov/pubmed/26812054", "http://www.ncbi.nlm.nih.gov/pubmed/22176801", "http://www.ncbi.nlm.nih.gov/pubmed/27450316", "http://www.ncbi.nlm.nih.gov/pubmed/23405883", "http://www.ncbi.nlm.nih.gov/pubmed/19828738", "http://www.ncbi.nlm.nih.gov/pubmed/25865979", "http://www.ncbi.nlm.nih.gov/pubmed/20861339", "http://www.ncbi.nlm.nih.gov/pubmed/19710260", "http://www.ncbi.nlm.nih.gov/pubmed/25113379", "http://www.ncbi.nlm.nih.gov/pubmed/24850346", "http://www.ncbi.nlm.nih.gov/pubmed/17385151", "http://www.ncbi.nlm.nih.gov/pubmed/24045390", "http://www.ncbi.nlm.nih.gov/pubmed/19506056", "http://www.ncbi.nlm.nih.gov/pubmed/15060266", "http://www.ncbi.nlm.nih.gov/pubmed/20524852", "http://www.ncbi.nlm.nih.gov/pubmed/20071548", "http://www.ncbi.nlm.nih.gov/pubmed/17537949" ]

[]

[]

[ "CID, HCD, ECD, ETD and PSD are different peptide fragmentation technologies used in mass spectrometry." ]

[ "CID", "collision-induced dissociation", "HCD", "Higher-energy collisional dissociation", "ECD", "electron capture dissociation", "ETD", "electron transfer dissociation", "PSD", "post-source decay" ]

[ " using the CID and HCD fragmentation techniques", "By integrating HCD-MS/MS, CID-MS/MS", "ECD and ETD induced different fragmentation processes", "MALDI post-source decay (PSD), MALDI 157 nm photodissociation, tris(2,4,6-trimethoxyphenyl)phosphonium bromide (TMPP) charge tagging in PSD and photodissociation, ESI collision-induced dissociation (CID), electron transfer dissociation (ETD), and free-radical initiated peptide sequencing (FRIPS) with CID were applied to peptides containing either aspartic or isoaspartic acid.", "automated analysis of HCD and ETD fragmentation spectra", "The combination of DIA analysis and ETD fragmentation with supplemental CID energy " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26780731", "http://www.ncbi.nlm.nih.gov/pubmed/27613306", "http://www.ncbi.nlm.nih.gov/pubmed/27914015", "http://www.ncbi.nlm.nih.gov/pubmed/27139140", "http://www.ncbi.nlm.nih.gov/pubmed/27098412", "http://www.ncbi.nlm.nih.gov/pubmed/27520322" ]

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[]

[ "Yes, avanafil is indicated for treatment of erectile dysfunction." ]

[ "yes" ]

[ "CONTEXT: Avanafil (AVA) is used in the treatment of erectile dysfunction, but is reported for its poor aqueous solubility. ", "BACKGROUND: Phosphodiesterase 5 inhibitors (PDE5-Is) sildenafil, vardenafil, tadalafil and the recently approved avanafil represent the first-line choice for both on-demand and chronic treatment of erectile dysfunction (ED). ", "A survey on the experience of 136 Italian urologists in the treatment of erectile dysfunction with PDE5 inhibitors and recommendations for the use of Avanafil in the clinical practice.", "Efficacy of Avanafil 15 Minutes after Dosing in Men with Erectile Dysfunction: A Randomized, Double-Blind, Placebo Controlled Study.", "PURPOSE: We examined the therapeutic effects of avanafil 15 minutes after dosing in men with mild to severe erectile dysfunction.", "Sildenafil, vardenafil, tadalafil and avanafil are FDA approved drugs in market as PDE5 inhibitors for treating erectile dysfunction.", "CONCLUSION: Avanafil along with the other PDE5Is has shown to be a safe and effective oral treatment for ED, with avanafil's possible place in therapy for patients who want an on-demand option or as an alternative in patients who experience visual disturbances with the other agents.", "Avanafil (STENDRA™, SPEDRA™, Zepeeed™) is an oral phosphodiesterase type 5 inhibitor indicated for the treatment of erectile dysfunction.", "In a 12-week, randomized, double-blind, placebo-controlled, multicentre trial in patients with erectile dysfunction, avanafil 50, 100 and 200 mg recipients had significantly greater improvements from baseline than placebo recipients in mean international index of erectile dysfunction-erectile function domain scores and in successful vaginal penetration and sexual intercourse attempts (coprimary endpoints).", "Avanafil for the treatment of erectile dysfunction. An updated review.", "Selectivity of avanafil, a PDE5 inhibitor for the treatment of erectile dysfunction: implications for clinical safety and improved tolerability.", "A randomized, double-blind, placebo-controlled evaluation of the safety and efficacy of avanafil in subjects with erectile dysfunction.", "Avanafil, a potent and highly selective phosphodiesterase-5 inhibitor for erectile dysfunction.", "Avanafil, a highly selective phosphodiesterase type 5 inhibitor for erectile dysfunction, shows good safety profiles for retinal function and hemodynamics in anesthetized dogs.", "Cumulative data suggest that avanafil has a promising pharmacological profile for erectile dysfunction.", "These findings suggest that intracavernosal administration of avanafil might be beneficial for the treatment of erectile dysfunction in patients with T2DM.", "An open-label, long-term evaluation of the safety, efficacy and tolerability of avanafil in male patients with mild to severe erectile dysfunction.", "The effect of intracavernosal avanafil, a newer phosphodiesterase-5 inhibitor, on neonatal type 2 diabetic rats with erectile dysfunction.", "A phase 3, placebo controlled study of the safety and efficacy of avanafil for the treatment of erectile dysfunction after nerve sparing radical prostatectomy.", "Avanafil is a potent selective phosphodiesterase type 5 (PDE5) inhibitor newly developed for treating erectile dysfunction (ED).", "Adverse events most commonly reported with avanafil treatment were headache, nasopharyngitis, flushing, and sinus congestion.Avanafil was safe and effective for treating erectile dysfunction in men with diabetes and was effective as early as 15 minutes and more than 6 hours after dosing", "Avanafil (STENDRA™, SPEDRA™, Zepeeed™) is an oral phosphodiesterase type 5 inhibitor indicated for the treatment of erectile dysfunction", "Avanafil is rapidly absorbed after oral administration, with a median time to maximum plasma concentration of 30 to 45 min. In a 12-week, randomized, double-blind, placebo-controlled, multicentre trial in patients with erectile dysfunction, avanafil 50, 100 and 200 mg recipients had significantly greater improvements from baseline than placebo recipients in mean international index of erectile dysfunction-erectile function domain scores and in successful vaginal penetration and sexual intercourse attempts (coprimary endpoints)", "A phase II, single-blind, randomized, crossover evaluation of the safety and efficacy of avanafil using visual sexual stimulation in patients with mild to moderate erectile dysfunction", "To evaluate the safety, efficacy and time course of three doses of avanafil (50 mg, 100 mg and 200 mg) compared with sildenafil 50 mg or placebo, given in conjunction with visual sexual stimulation (VSS) videos in men with mild to moderate erectile dysfunction (ED).Male patients, 35-70 years of age, with mild to moderate ED of ≥6 months duration, were included in the study", "Avanafil for erectile dysfunction", "To review the pharmacology, pharmacokinetics, safety, and efficacy of avanafil and evaluate relevant clinical trial data.A MEDLINE, International Pharmaceutical Abstracts, ClinicalTrials.gov, and Google Scholar searches (1966 to July 2013) were conducted using the key words: avanafil, erectile dysfunction, and phosphodiesterase type 5 (PDE5) inhibitor.Articles evaluating avanafil for erectile dysfunction (ED) published in English and using human subjects were selected", "In trials in patients with erectile dysfunction in association with diabetes mellitus, and after nerve-sparing radical prostatectomy, avanafil 100 or 200 mg was significantly more efficacious than placebo for primary and most secondary endpoints", "However, the potentiating effect of avanafil at 1 mg/kg was significantly weaker than that of sildenafil (p &lt;0.05).Data suggest that avanafil has a favorable safety profile for erectile dysfunction, which is attributable to its high inhibitory selectivity for phosphodiesterase type 5 against type 6 (retina) and 1 (vessels, etc), respectively, and its short acting pharmacodynamic property.<CopyrightInformation>Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.</", "Avanafil for the treatment of erectile dysfunction: a multicenter, randomized, double-blind study in men with diabetes mellitus.", "The discovery of avanafil for the treatment of erectile dysfunction: a novel pyrimidine-5-carboxamide derivative as a potent and highly selective phosphodiesterase 5 inhibitor.", "Efficacy and safety of avanafil for treating erectile dysfunction: results of a multicentre, randomized, double-blind, placebo-controlled trial.", "Phosphodiesterase 5 inhibitors (PDE5-Is) sildenafil, vardenafil, tadalafil and the recently approved avanafil represent the first-line choice for both on-demand and chronic treatment of erectile dysfunction (ED).", "The phosphodiesterese-5 (PDE5) inhibitors, including sildenafil (Viagra™), vardenafil (Levitra™), tadalafil (Cialis™) and avanafil (Stendra™) have been developed for the treatment of erectile dysfunction.", "To compare the efficacy and safety between different dosages of avanafil for the treatment of erectile dysfunction (ED).PubMed, Cochrane Library, and Embase were searched to identify randomized controlled trials which compared avanafil with placebo, or compared different dosages of avanafil for ED.", "We evaluated the safety and efficacy of 100 and 200 mg avanafil for the treatment of adult males with erectile dysfunction after bilateral nerve sparing radical prostatectomy.This was a double-blind, placebo controlled, parallel group, phase 3 study in males age 18 to 70 years with a history of erectile dysfunction of 6 months or more after bilateral nerve sparing radical prostatectomy.", "To determine the effect of avanafil, a novel phosphodiesterase-5 inhibitor, on the treatment of erectile dysfunction associated with type 2 diabetes mellitus (T2DM).In 2-day-old rats, T2DM was induced by single intraperitoneal injection of 90 mg/kg of streptozotocin (STZ; i.p.).", "These findings suggest that intracavernosal administration of avanafil might be beneficial for the treatment of erectile dysfunction in patients with T2DM.<CopyrightInformation>Copyright © 2014 Elsevier Inc. All rights reserved.</C", "Avanafil, a potent new selective phosphodiesterase type 5 (PDE5) inhibitor, has been developed for the treatment of erectile dysfunction (ED).", "Adverse events most commonly reported with avanafil treatment were headache, nasopharyngitis, flushing, and sinus congestion.Avanafil was safe and effective for treating erectile dysfunction in men with diabetes and was effective as early as 15 minutes and more than 6 hours after dosing.", "Coprimary end points assessed changes in the percentage of sexual attempts in which men were able to maintain an erection of sufficient duration to have successful intercourse (Sexual Encounter Profile [SEP] 3), percentage of sexual attempts in which men were able to insert the penis into the partner's vagina (SEP 2), and International Index of Erectile Function erectile function domain score.RESULTS: Compared with placebo, least-squares mean change from baseline to study end in SEP 3, SEP 2, and International Index of Erectile Function erectile function domain score were significantly improved with both avanafil, 100 mg (P?.002), and avanafil, 200 mg (P<.001).", "Adverse events most commonly reported with avanafil treatment were headache, nasopharyngitis, flushing, and sinus congestion.CONCLUSION: Avanafil was safe and effective for treating erectile dysfunction in men with diabetes and was effective as early as 15 minutes and more than 6 hours after dosing.", "Avanafil for the treatment of erectile dysfunction. An updated review.", "Avanafil for erectile dysfunction.", "Avanafil for the treatment of erectile dysfunction: a multicenter, randomized, double-blind study in men with diabetes mellitus.", "To compare the efficacy and safety between different dosages of avanafil for the treatment of erectile dysfunction (ED).", "Selectivity of avanafil, a PDE5 inhibitor for the treatment of erectile dysfunction: implications for clinical safety and improved tolerability.", "A phase 3, placebo controlled study of the safety and efficacy of avanafil for the treatment of erectile dysfunction after nerve sparing radical prostatectomy.", "We evaluated the safety and efficacy of 100 and 200 mg avanafil for the treatment of adult males with erectile dysfunction after bilateral nerve sparing radical prostatectomy." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23321580", "http://www.ncbi.nlm.nih.gov/pubmed/27121186", "http://www.ncbi.nlm.nih.gov/pubmed/25591992", "http://www.ncbi.nlm.nih.gov/pubmed/25684196", "http://www.ncbi.nlm.nih.gov/pubmed/22704456", "http://www.ncbi.nlm.nih.gov/pubmed/22248153", "http://www.ncbi.nlm.nih.gov/pubmed/23955441", "http://www.ncbi.nlm.nih.gov/pubmed/22448738", "http://www.ncbi.nlm.nih.gov/pubmed/22857780", "http://www.ncbi.nlm.nih.gov/pubmed/23521325", "http://www.ncbi.nlm.nih.gov/pubmed/23219537", "http://www.ncbi.nlm.nih.gov/pubmed/22788525", "http://www.ncbi.nlm.nih.gov/pubmed/25455484", "http://www.ncbi.nlm.nih.gov/pubmed/24589460", "http://www.ncbi.nlm.nih.gov/pubmed/26784833", "http://www.ncbi.nlm.nih.gov/pubmed/22759639", "http://www.ncbi.nlm.nih.gov/pubmed/27377089", "http://www.ncbi.nlm.nih.gov/pubmed/25801159", "http://www.ncbi.nlm.nih.gov/pubmed/25582903", "http://www.ncbi.nlm.nih.gov/pubmed/24259695", "http://www.ncbi.nlm.nih.gov/pubmed/24331245", "http://www.ncbi.nlm.nih.gov/pubmed/26316720", "http://www.ncbi.nlm.nih.gov/pubmed/24701971", "http://www.ncbi.nlm.nih.gov/pubmed/23590161" ]

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[ "http://www.biosemantics.org/jochem#4243720", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007172" ]

[ "Modified nucleotides in messenger RNA (mRNA) have been discovered over 40 years ago, but until recently little was known about which transcripts contain them and what their function is. High-throughput sequencing approaches revealed a dynamic landscape of the 'Epitranscriptome' for many mRNA modifications in various organisms from yeast to humans.\t\t\nThe detection methods of RNA modifications has enabled investigation of a new layer of gene regulation - the epitranscriptome." ]

[]

[ "The simultaneous detection of all the post-transcriptional modifications (PTMs) that decorate cellular RNA can provide comprehensive information on the effects of changing environmental conditions on the entire epitranscriptome. ", "The advent of high-throughput sequencing technologies coupled with new detection methods of RNA modifications has enabled investigation of a new layer of gene regulation - the epitranscriptome.", " Other mRNA modifications, including N1-methyladenosine (m1A), 5-methylcytosine (m5C) and pseudouridine, together with m6A form the epitranscriptome and collectively code a new layer of information that controls protein synthesis.", " the utility of mass spectrometry approaches for discovery-based analyses of RNA modifications, such as are required for studies of the epitranscriptome.", "Despite the intriguing advancements, little is known so far about the dynamic landscape of RNA methylome across different cell types and how the epitranscriptome is regulated at the system level by enzymes, i.e., RNA methyltransferases and demethylases.", "Modified nucleotides in messenger RNA (mRNA) have been discovered over 40 years ago, but until recently little was known about which transcripts contain them and what their function is. High-throughput sequencing approaches revealed a dynamic landscape of the 'Epitranscriptome' for many mRNA modifications in various organisms from yeast to humans. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27808276", "http://www.ncbi.nlm.nih.gov/pubmed/26501195", "http://www.ncbi.nlm.nih.gov/pubmed/26176336", "http://www.ncbi.nlm.nih.gov/pubmed/27911721", "http://www.ncbi.nlm.nih.gov/pubmed/27172004", "http://www.ncbi.nlm.nih.gov/pubmed/26733207", "http://www.ncbi.nlm.nih.gov/pubmed/25370990" ]

[]

[]

[ "Vaginal ring containing Dapivirine is used for HIV prevention in women." ]

[ "HIV" ]

[ "OBJECTIVES: The objectives of this study were to comprehensively assess mRNA expression of 84 drug transporters in human colorectal biopsies and six representative cell lines, and to investigate the alteration of drug transporter gene expression after exposure to three candidate microbicidal antiretroviral (ARV) drugs (tenofovir, darunavir and dapivirine) in the colorectal epithelium. The outcome of the objectives informs development of optimal ARV-based microbicidal formulations for prevention of HIV-1 infection.", "We evaluated the adherence and acceptability of a vaginal ring containing dapivirine, maraviroc, or both drugs for 28 days during a Phase I placebo-controlled trial in 48 HIV-negative sexually abstinent U.S. women aged 18-40.", "Use of a Vaginal Ring Containing Dapivirine for HIV-1 Prevention in Women.", "Methods We conducted a phase 3, randomized, double-blind, placebo-controlled trial of a monthly vaginal ring containing dapivirine, a non-nucleoside HIV-1 reverse-transcriptase inhibitor, involving women between the ages of 18 and 45 years in Malawi, South Africa, Uganda, and Zimbabwe. Results Among the 2629 women who were enrolled, 168 HIV-1 infections occurred: 71 in the dapivirine group and 97 in the placebo group (incidence, 3.3 and 4.5 per 100 person-years, respectively). The incidence of HIV-1 infection in the dapivirine group was lower by 27% (95% confidence interval [CI], 1 to 46; P=0.05) than that in the placebo group. In an analysis that excluded data from two sites that had reduced rates of retention and adherence, the incidence of HIV-1 infection in the dapivirine group was lower by 37% (95% CI, 12 to 56; P=0.007) than that in the placebo group.", "Conclusions A monthly vaginal ring containing dapivirine reduced the risk of HIV-1 infection among African women, with increased efficacy in subgroups with evidence of increased adherence. ", "BACKGROUND: This was the first microbicide trial conducted in Africa to evaluate an antiretroviral-containing vaginal ring as an HIV prevention technology for women.OBJECTIVES: The trial assessed and compared the safety, acceptability and adherence to product use of a 4-weekly administered vaginal ring containing the antiretroviral microbicide, dapivirine, with a matching placebo ring among women from four countries in sub-Saharan Africa.", "CONCLUSIONS: The dapivirine vaginal ring has a favourable safety and acceptability profile. If proven safe and effective in large-scale trials, it will be an important component of combination HIV prevention approaches for women.", "PURPOSE: To develop polymeric films containing dual combinations of anti-HIV drug candidate tenofovir, maraviroc and dapivirine for vaginal application as topical microbicides.", "Efficacy trials with a dapivirine-containing vaginal ring for HIV prevention are ongoing and plans to develop multi-purpose vaginal rings for prevention of both HIV and pregnancy have been elaborated.", "Inhibition of human immunodeficiency virus type 1 infection by the candidate microbicide dapivirine, a nonnucleoside reverse transcriptase inhibitor.", "The incidence of HIV-1 infection in the dapivirine group was lower by 27% (95% confidence interval [CI], 1 to 46; P=0.046) than that in the placebo group.", "In an analysis that excluded data from two sites that had reduced rates of retention and adherence, the incidence of HIV-1 infection in the dapivirine group was lower by 37% (95% CI, 12 to 56; P=0.007) than that in the placebo group.", "Within this study the in vitro bioactivity of dapivirine as compared to the NNRTI UC781 was further established and a quick dissolve film was developed for vaginal application of dapivirine for prevention of HIV infection.", "Dapivirine, a nonnucleoside reverse transcriptase inhibitor, is in development as a microbicide for the protection of women against HIV infection.", "Dapivirine is a nonnucleoside reverse transcriptase inhibitor being developed as a topical microbicide for the prevention of human immunodeficiency virus infection.", "Dapivirine from both IVRs was successfully distributed throughout the lower genital tract at concentrations>1000x the EC(50) against wild-type HIV-1 (LAI) in MT4 cells suggesting that IVR delivery of microbicides is a viable option meriting further study.", "The nonnucleoside reverse transcriptase inhibitors UC-781 and TMC120-R147681 (Dapivirine) effectively prevented human immunodeficiency virus (HIV) infection in cocultures of monocyte-derived dendritic cells and T cells, representing primary targets in sexual transmission.", "To assess the potential of polymeric nanoparticles (NPs) to affect the genital distribution and local and systemic pharmacokinetics (PK) of the anti-HIV microbicide drug candidate dapivirine after vaginal delivery.Dapivirine-loaded, poly(ethylene oxide)-coated poly(epsilon-caprolactone) (PEO-PCL) NPs were prepared by a nanoprecipitation method", "The nonnucleoside reverse transcriptase inhibitors UC-781 and TMC120-R147681 (Dapivirine) effectively prevented human immunodeficiency virus (HIV) infection in cocultures of monocyte-derived dendritic cells and T cells, representing primary targets in sexual transmission", "Dapivirine is a nonnucleoside reverse transcriptase inhibitor being developed as a topical microbicide for the prevention of human immunodeficiency virus infection. ", "CONCLUSIONS: The study demonstrates proof of concept for a dapivirine-releasing diaphragm with daily release quantities potentially capable of preventing HIV transmission. ", "Antiretroviral-containing vaginal microbicide rings, which release medication over a month or longer, may reduce these adherence challenges.ASPIRE (A Study to Prevent Infection with a Ring for Extended Use) is a phase III, randomized, double-blind, placebo-controlled trial testing the safety and effectiveness of a vaginal ring containing the non-nucleoside reverse transcriptase inhibitor dapivirine for prevention of HIV-1 infection.", "Dapivirine demonstrated potent dose-dependent inhibitory effects against a broad panel of HIV type 1 isolates from different clades.", "Two large efficacy trials of a vaginal ring containing the investigational drug dapivirine demonstrated efficacy and safety in preventing HIV infections in women in Africa.", "In doing so, we discovered that dapivirine and maraviroc, a non-nucleoside reverse transcriptase inhibitor and an entry inhibitor currently in development as microbicides for HIV PrEP, are differentially metabolized in colorectal tissue and vaginal tissue.", "Plasma dapivirine concentrations were low (<1 ng/ml) and remained well below those observed at the maximum tolerated dose for oral treatment (mean Cmax of 2286  ng/ml).CONCLUSION: The dapivirine vaginal ring has a safety and pharmacokinetic profile that supports its use as a sustained-release topical microbicide for HIV-1 prevention in women.", "ASPIRE (A Study to Prevent Infection with a Ring for Extended Use) is a phase III, randomized, double-blind, placebo-controlled trial testing the safety and effectiveness of a vaginal ring containing the non-nucleoside reverse transcriptase inhibitor dapivirine for prevention of HIV-1 infection.", "Dual segment polyurethane intravaginal rings (IVRs) were fabricated to enable sustained release of antiretroviral agents dapivirine and tenofovir to prevent the male to female sexual transmission of the human immunodeficiency virus.", "The study demonstrates proof of concept for a dapivirine-releasing diaphragm with daily release quantities potentially capable of preventing HIV transmission." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25845860", "http://www.ncbi.nlm.nih.gov/pubmed/26061040", "http://www.ncbi.nlm.nih.gov/pubmed/26900902", "http://www.ncbi.nlm.nih.gov/pubmed/24693866", "http://www.ncbi.nlm.nih.gov/pubmed/27398859", "http://www.ncbi.nlm.nih.gov/pubmed/20854207", "http://www.ncbi.nlm.nih.gov/pubmed/25880636", "http://www.ncbi.nlm.nih.gov/pubmed/24449442", "http://www.ncbi.nlm.nih.gov/pubmed/14693562", "http://www.ncbi.nlm.nih.gov/pubmed/24901365", "http://www.ncbi.nlm.nih.gov/pubmed/19029331", "http://www.ncbi.nlm.nih.gov/pubmed/26732684", "http://www.ncbi.nlm.nih.gov/pubmed/24862093", "http://www.ncbi.nlm.nih.gov/pubmed/20574411", "http://www.ncbi.nlm.nih.gov/pubmed/26837628", "http://www.ncbi.nlm.nih.gov/pubmed/22708075", "http://www.ncbi.nlm.nih.gov/pubmed/26514157", "http://www.ncbi.nlm.nih.gov/pubmed/19623693", "http://www.ncbi.nlm.nih.gov/pubmed/25079391", "http://www.ncbi.nlm.nih.gov/pubmed/26963505", "http://www.ncbi.nlm.nih.gov/pubmed/18086845", "http://www.ncbi.nlm.nih.gov/pubmed/19388819", "http://www.ncbi.nlm.nih.gov/pubmed/23360246", "http://www.ncbi.nlm.nih.gov/pubmed/23965226", "http://www.ncbi.nlm.nih.gov/pubmed/23177261", "http://www.ncbi.nlm.nih.gov/pubmed/21109069", "http://www.ncbi.nlm.nih.gov/pubmed/19958831", "http://www.ncbi.nlm.nih.gov/pubmed/25089538" ]

[]

[ "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4243195", "http://www.biosemantics.org/jochem#4243195", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007239", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017053" ]

[ "Bexsero is a 4-component vaccine against capsular Meningococcus serogroup B (4CMenB), which has recently been licensed in Europe, Canada and Australia.", "Bexsero is amulticomponent vaccine against serogroup B Neisseria meningitidis (MenB)." ]

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[ "A capsular group B meningococcal vaccine - 4CMenB (Bexsero) - has recently been licensed in the European Union, Canada and Australia.", "The 4-component meningococcal serogroup B vaccine 4CMenB (Bexsero) is the first vaccine against this serogroup and has been approved by licensing authorities in Europe, Canada and Australia. ", "Implementation of meningococcal B vaccination (Bexsero®) in France: Physicians' perceptions and experiences of a few months after marketing approval", "In December 2013, the French public health authorities recommended the use of Bexsero® (meningococcus B vaccine) in areas with endemic risk and for patients at risk for invasive meningococcal B disease. ", "Bexsero, a novel vaccine against meningococcus", "Meningococcus B is the most prevalent Neisseria meningitidis serogroup isolated in Hungary. Bexsero is one of the vaccines developed against it, which has been available in Hungary since the summer of 2014. ", "Vaccinating Italian infants with a new multicomponent vaccine (Bexsero®) against meningococcal B disease: A cost-effectiveness analysis.", "The European Medicines Agency has approved a multicomponent serogroup B meningococcal vaccine (Bexsero®) for use in individuals of 2 months of age and older.", "Our results suggest that vaccinating infants in Italy with Bexsero® has the ability to significantly reduce meningococcal disease and, if the probable underestimation of disease incidence is considered, routine vaccination is advisable.", "Since the antigens selected for Bexsero® are also harbored by meningococci belonging to other serogroups there may be the potential for Bexsero® to offer a certain level of protection against non-B serogroups.", "[Bexsero, a novel vaccine against meningococcus].", "The new available vaccines are Bexsero® and Trumenba®.", "Surface-expressed protein antigens such as factor H-binding protein (fHbp), Neisserial adhesin A (NadA), Neisserial heparin-binding antigen (NHBA) and Porin protein A (PorA); all express sequence variability that can affect their function as protective immunogens when used in meningococcal serogroup B vaccines like the recently-approved 4CMenB (Bexsero(®)).", "Proteinaceous meningococcal B vaccines are under development, and the most advanced, Bexsero, is currently being evaluated by the European Medicines Agency.", "Among them, the Reverse Vaccinology approach was successfully applied to the development of an innovative vaccine against Neisseria meningitidis serogroup B, now available on the market with the commercial name BEXSERO® (Novartis Vaccines).", "Recently, a vaccine, 4CMenB (Bexsero(®)), containing three recombinant proteins, and outer membrane vesicles (OMV) derived from a serogroup B meningococcal strain (MenB) has been licensed in Europe and Australia and is indicated for persons aged 2 mo or older.", "Multicomponent meningococcal serogroup B vaccine (4CMenB; Bexsero(®)) is a unique vaccine containing four main immunogenic components: three recombinant proteins combined with outer membrane vesicles derived from meningococcal NZ98/254 strain", "Recently, a universal serogroup B meningococcal vaccine, Bexsero(®), was licensed in Europe, Australia and United States, following several clinical studies demonstrating its immunogenicity and safety", "Like any drug, Bexsero(®) and Trumemba(®) will require close observation to assess their impact on meningococcal epidemiology. <CopyrightInformation>Copyright © 2015 Elsevier Masson SAS", "Bexsero, a new vaccine against Neisseria meningitidis serogroup B (MenB), is composed of 3 main recombinant proteins and an outer membrane vesicle component", "The meningococcal 4CMenB vaccine (Bexsero; Novartis) contains four antigens that can elicit serum bactericidal activity, one of which is factor H (FH)-binding protein (FHbp)", "In December 2013 Bexsero® became available in Germany for vaccination against serogroup B meningococci (MenB)", "Bexsero® is based on surface protein antigens expressed by about 80% of circulating serogroup B meningococci in Germany", "Re-evaluating cost effectiveness of universal meningitis vaccination (Bexsero) in England: modelling study.", "Bexsero: a multicomponent vaccine for prevention of meningococcal disease.", "OBJECTIVE: To use mathematical and economic models to predict the epidemiological and economic impact of vaccination with Bexsero, designed to protect against group B meningococcal disease, to help inform vaccine policy in the United Kingdom.DESIGN: Modelling study.SETTING: England.POPULATION: People aged 0-99.INTERVENTIONS: Incremental impact of introductory vaccine strategies simulated with a transmission dynamic model of meningococcal infection and vaccination including potential herd effects. ", "Preventing secondary cases of invasive meningococcal capsular group B (MenB) disease using a recently-licensed, multi-component, protein-based vaccine (Bexsero(�)).", "Modelled evaluation of multi-component meningococcal vaccine (Bexsero®) for the prevention of invasive meningococcal disease in infants and adolescents in the UK.", "BACKGROUND: 4CMenB (Bexsero), a vaccine developed against invasive meningococcal disease caused by capsular group B strains (MenB), was recently licensed for use by the European Medicines Agency. ", "Bexsero is the first meningococcal B vaccine to be approved in the European Union. ", "Quantification by LC-MS(E) of outer membrane vesicle proteins of the Bexsero® vaccine.", "We previously demonstrated the immunogenicity and tolerability of the serogroup B meningococcal vaccine, 4CMenB (Bexsero), in 11-17 y-olds randomized to receive 1, 2, or 3 doses at 1, 2, or 6 mo intervals. ", "This policy statement provides recommendations for the prevention of serogroup B meningococcal disease through the use of 2 newly licensed serogroup B meningococcal vaccines: MenB-FHbp (Trumenba; Wyeth Pharmaceuticals, a subsidiary of Pfizer, Philadelphia, PA) and MenB-4C (Bexsero; Novartis Vaccines, Siena, Italy).", "An outbreak of Neisseria meningitidis serotype B infection occurred at a small residential university; public health announced an organizational vaccination program with the 4-component Meningococcal B (4CMenB) vaccine (Bexsero(TM), Novartis/GlaxoSmithKline Inc.) several days later.", "Bexsero, a new vaccine against serogroup B meningococcal disease (MenB), was licensed in Europe in January 2013.", "Recently approved in the EU, US, Australia, and Canada, 4CMenB (Bexsero(®), GSK Vaccines) is a multi-component meningococcal B (MenB) vaccine containing 3 surface exposed recombinant proteins (fHbp, NadA, and NHBA) and New Zealand strain outer membrane vesicles (NZ OMV) containing PorA 1.4.", "In Germany, Bexsero is recommended for persons at increased risk of invasive meningococcal disease, but not for universal childhood vaccination.", "To support decision making we adapted the independently developed model for England to the German setting to predict the potential health impact and cost-effectiveness of universal vaccination with Bexsero(®) against MenB disease.", "This has resulted in a multicomponent, recombinant, meningococcal serogroup B vaccine: 4CMenB (Bexsero(®), Novartis Vaccines & Diagnostics, NC, USA), containing four main immunogenic components: two recombinant fusion proteins (Neisseria heparin-binding antigen-GNA1030 and factor H-binding protein-GNA2091); recombinant Neisserial adhesion A; and detergent-treated outer membrane vesicles derived from the meningococcal NZ98/254 strain, where porin A 1.4 is the major immunodominant antigen.", "BACKGROUND: 4CMenB (Bexsero), a vaccine developed against invasive meningococcal disease caused by capsular group B strains (MenB), was recently licensed for use by the European Medicines Agency.", "In January 2015, FDA licensed a second MenB vaccine (MenB-4C [Bexsero, Novartis Vaccines]) as a 2-dose series.", "Bexsero, a new vaccine against Neisseria meningitidis serogroup B (MenB), is composed of 3 main recombinant proteins and an outer membrane vesicle component.", "Preventing secondary cases of invasive meningococcal capsular group B (MenB) disease using a recently-licensed, multi-component, protein-based vaccine (Bexsero(®)).", "[Bexsero, a novel vaccine against meningococcus].", "Modelling the cost-effectiveness of catch-up 'MenB' (Bexsero) vaccination in England.", "Re-evaluating cost effectiveness of universal meningitis vaccination (Bexsero) in England: modelling study.", "The novel vaccine Bexsero (previously 4CMenB) has been developed and proven safe and immunogenic in clinical trials.", "Multicomponent meningococcal serogroup B vaccine (4CMenB; Bexsero(®)): a review of its use in primary and booster vaccination.", "Bexsero, the recently licensed multicomponent vaccine against serogroup B Neisseria meningitidis (MenB).", "Recommendation for anti-meningococcal vaccination among these workers has been recently updated upon the licensure in Europe of Bexsero® vaccine.", "Clinical recommendations for the use of Bexsero have been published in several countries. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26853725", "http://www.ncbi.nlm.nih.gov/pubmed/25043395", "http://www.ncbi.nlm.nih.gov/pubmed/26603630", "http://www.ncbi.nlm.nih.gov/pubmed/27109566", "http://www.ncbi.nlm.nih.gov/pubmed/27808594", "http://www.ncbi.nlm.nih.gov/pubmed/27923519", "http://www.ncbi.nlm.nih.gov/pubmed/23472347", "http://www.ncbi.nlm.nih.gov/pubmed/25161192", "http://www.ncbi.nlm.nih.gov/pubmed/26686570", "http://www.ncbi.nlm.nih.gov/pubmed/25713028", "http://www.ncbi.nlm.nih.gov/pubmed/22426368", "http://www.ncbi.nlm.nih.gov/pubmed/26788734", "http://www.ncbi.nlm.nih.gov/pubmed/26788735", "http://www.ncbi.nlm.nih.gov/pubmed/21615224", "http://www.ncbi.nlm.nih.gov/pubmed/27163398", "http://www.ncbi.nlm.nih.gov/pubmed/26304221", "http://www.ncbi.nlm.nih.gov/pubmed/25301037", "http://www.ncbi.nlm.nih.gov/pubmed/27002504", "http://www.ncbi.nlm.nih.gov/pubmed/25368410", "http://www.ncbi.nlm.nih.gov/pubmed/26379162", "http://www.ncbi.nlm.nih.gov/pubmed/27573083", "http://www.ncbi.nlm.nih.gov/pubmed/27521232", "http://www.ncbi.nlm.nih.gov/pubmed/25986879", "http://www.ncbi.nlm.nih.gov/pubmed/23811804", "http://www.ncbi.nlm.nih.gov/pubmed/24631075", "http://www.ncbi.nlm.nih.gov/pubmed/26068564", "http://www.ncbi.nlm.nih.gov/pubmed/26433141", "http://www.ncbi.nlm.nih.gov/pubmed/24141209", "http://www.ncbi.nlm.nih.gov/pubmed/23575646", "http://www.ncbi.nlm.nih.gov/pubmed/24815780", "http://www.ncbi.nlm.nih.gov/pubmed/24462403", "http://www.ncbi.nlm.nih.gov/pubmed/26487381", "http://www.ncbi.nlm.nih.gov/pubmed/27302338", "http://www.ncbi.nlm.nih.gov/pubmed/25325113", "http://www.ncbi.nlm.nih.gov/pubmed/23954380", "http://www.ncbi.nlm.nih.gov/pubmed/24807056", "http://www.ncbi.nlm.nih.gov/pubmed/24284038", "http://www.ncbi.nlm.nih.gov/pubmed/26126001", "http://www.ncbi.nlm.nih.gov/pubmed/25882169" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008585", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008589", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D065288", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D022401", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D038541", "http://www.disease-ontology.org/api/metadata/DOID:13668" ]

[ "Yes. Gamma knife radiosurgery is being increasingly to treat refractory obsessive- compulsive disorder (OCD). It is reserved for severe, treatment-refractory disease that has not responded to multiple treatments." ]

[ "yes" ]

[ "OBJECTIVE Functional Gamma Knife radiosurgery (GKRS) procedures have been increasingly used for treating patients with tremor, trigeminal neuralgia (TN), and refractory obsessive-compulsive disorder.", "METHODS The authors constructed a linear-quadratic model of BED in functional GKRS with a dose-protraction factor to correct for intrafraction DNA-damage repair and used standard single-fraction doses for trigeminal nerve ablation for TN (85 Gy), thalamotomy for tremor (130 Gy), and capsulotomy for obsessive-compulsive disorder (180 Gy). ", "Gamma knife for obsessive compulsive disorder: can it be detrimental?", "Gamma knife radiosurgery (GKRS) is also being practised to treat refractory obsessive- compulsive disorder (OCD).", "Radio and neurosurgical procedures, including gamma knife radiation and deep brain stimulation, are reserved for severe, treatment-refractory disease that has not responded to multiple treatments, and some patients may benefit from transcranial magnetic stimulation.", " We close with a discussion of gamma knife capsulotomy, a modality with deep historical roots.", "Results following gamma knife radiosurgical anterior capsulotomies for obsessive compulsive disorder.", "Gamma knife radiosurgery (GKRS) is also being practised to treat refractory obsessive- compulsive disorder (OCD).", "Lesion topography and outcome after thermocapsulotomy or gamma knife capsulotomy for obsessive-compulsive disorder: relevance of the right hemisphere.", "Neuropsychological outcome of ventral capsular/ventral striatal gamma capsulotomy for refractory obsessive-compulsive disorder: a pilot study", "Gamma ventral capsulotomy for treatment of resistant obsessive-compulsive disorder: a structural MRI pilot prospective study", "Results following gamma knife radiosurgical anterior capsulotomies for obsessive compulsive disorder", "At 28 months, the third patient is living and working independently, and her YBOCS score is 18.CONCLUSION: Within a strict protocol, gamma knife radiosurgery provided improvement of OCD behavior with no adverse effects.", "Gamma knife for obsessive compulsive disorder: can it be detrimental?" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7841817", "http://www.ncbi.nlm.nih.gov/pubmed/8517190", "http://www.ncbi.nlm.nih.gov/pubmed/18188146", "http://www.ncbi.nlm.nih.gov/pubmed/25165567", "http://www.ncbi.nlm.nih.gov/pubmed/21150752", "http://www.ncbi.nlm.nih.gov/pubmed/24093580", "http://www.ncbi.nlm.nih.gov/pubmed/12856488", "http://www.ncbi.nlm.nih.gov/pubmed/24099662", "http://www.ncbi.nlm.nih.gov/pubmed/18081480", "http://www.ncbi.nlm.nih.gov/pubmed/25050687", "http://www.ncbi.nlm.nih.gov/pubmed/10099102", "http://www.ncbi.nlm.nih.gov/pubmed/23872618", "http://www.ncbi.nlm.nih.gov/pubmed/23829816", "http://www.ncbi.nlm.nih.gov/pubmed/19996247", "http://www.ncbi.nlm.nih.gov/pubmed/15554782", "http://www.ncbi.nlm.nih.gov/pubmed/18835422", "http://www.ncbi.nlm.nih.gov/pubmed/10069581", "http://www.ncbi.nlm.nih.gov/pubmed/25054836", "http://www.ncbi.nlm.nih.gov/pubmed/27903196" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:10933", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009771" ]

[ "this biguanide is an oral insulin-sensitizing agent capable of increasing insulin sensitivity and decreasing plasma fasting insulin levels.", "Bioguaides like Metformin, decrease amount of glucose released from liver and increases insulin sensitivity. " ]

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[ "Metformin sensitizes the insulin action", "This biguanide is an oral insulin-sensitizing agent capable of increasing insulin sensitivity and decreasing plasma fasting insulin levels. ", "Metformin is an oral anti-diabetic drug of the biguanide class that is commonly used to treat type 2 diabetes mellitus.", "Metformin, an oral anti-diabetic agent in the biguanide class is a widely prescribed drug to treat high blood glucose in patients with type 2 diabetes mellitus.", "etformin has three different roles, including blood glucose regulatory effect, protection of kidney tubular cell by acting as an effective antioxidant and finally ameliorative effect on diabetic kidney disease through saving the podocytes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23292513", "http://www.ncbi.nlm.nih.gov/pubmed/27939359", "http://www.ncbi.nlm.nih.gov/pubmed/8914439", "http://www.ncbi.nlm.nih.gov/pubmed/25793062", "http://www.ncbi.nlm.nih.gov/pubmed/21147283", "http://www.ncbi.nlm.nih.gov/pubmed/26166607" ]

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[ "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275167", "http://www.disease-ontology.org/api/metadata/DOID:9351", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001645", "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=D003924", "http://www.biosemantics.org/jochem#4275167", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008687" ]

[ "The proteasome can be found in perinuclear and nuclear location, as well as in cytosolic compartments, such as mitochondria and endoplasmic reticulum. Proteasome-mediated degradation of cell cycle regulatory proteins, production and loading of antigenic peptides onto HLA molecules, and transient homing of diverse virion proteins required for entry and/or egress have been also shown to be coordinated at the centrosome." ]

[]

[ "Cellular regulation by UPS- mediated protein degradation is a highly specific and selective process that depends on time (e.g. cell cycle) and location (nucleus, mitochondria or endoplasmic reticulum). ", "In eukaryotic cells, regulated protein degradation of intracellular proteins is mediated largely by the ubiquitin proteasome system (UPS). ", "We followed two key parameters of this process: the distribution of proteasomes in nuclear and cytosolic compartments, and the formation of cytoplasmic aggregate-like structures called proteasome storage granules (PSGs). ", "Subsequently, cellular distribution of the PAI-2·proteasome complexes was established by immunogold staining and electron microscopy analyses. As judged by confocal microscopy, both proteins appeared in a diffuse cytosolic pattern, but they also could be found in a dense perinuclear and nuclear location. ", " Frequently ubiquitinated proteins are targeted to the proteasome for degradation in the cytosol. ", " More recently, proteasome-mediated degradation of cell cycle regulatory proteins, production and loading of antigenic peptides onto HLA molecules, and transient homing of diverse virion proteins required for entry and/or egress have been shown to be coordinated at the centrosome. ", "We conclude that N-terminal sequences of Wld(S) protein influence the intranuclear location of both ubiquitin proteasome and NAD(+) synthesis machinery and that an evolutionary recent sequence mediates binding of mammalian Ube4b to VCP.", "Two new forms of proteasomes, designated as the endoplasmic reticulum (ER) membrane-associated proteasome (ERa proteasome) and ER membrane-bound proteasome (ERb proteasome), were purified to homogeneity from 0.0125 and 2.5% sodium cholate extracts, respectively, of a rat liver microsomal fraction.", "The proteasome is a large multicatalytic, proteinase complex located in the cytosol and the nucleus of eukaryotic cells.", "Subcellular distribution of proteasomes implicates a major location of protein degradation in the nuclear envelope-ER network in yeast.", "JAB1, which is thought to bind p27KIP1 and transport it from the nucleus to the cytoplasm for proteasome/ubiquitin-mediated degradation, was found to be localized both in the cytoplasm and the nucleus in undifferentiated and differentiating tumors whereas located predominantly in the nucleus of differentiated tumor cells.", "20S proteasomes are present in all areas where ATPase subunits are detected, consistent with the presence of intact 26S proteasomes.", "Inhibition of proteasomes located in axons resulted in an accumulation of ubiquitinated proteins in these axons.", "All these observations indicate that the mouse sperm proteasome participates in the binding to the zona pellucida and the acrosome reaction and that there is a pool of proteasomes located on the sperm head..", "Thus, newly synthesized apoB is localized throughout the entire ER and degraded homogeneously, most likely by neighboring proteasomes located on the cytosolic side of the ER membrane.", "While misfolded and short-lived proteins are degraded in proteasomes located in the nucleus and cytoplasm, the degradation of organelles and long-lived proteins in the lysosome occurs by the process of autophagy.", "The GFP-tagged proteasomes were located within both the cytoplasm and the nucleus.", "Proteasomes are large multicatalytic proteinase complexes located in the cytosol and the nucleus of eukaryotic cells.", "Immunohistochemically, proteasomes (26S) were located in the cytoplasm in normal human muscle, but the staining intensity was weak.", "In DMRV, proteasomes often were located within or on the rim of rimmed vacuoles, and in the cytoplasm of atrophic fibers." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9799224", "http://www.ncbi.nlm.nih.gov/pubmed/26743630", "http://www.ncbi.nlm.nih.gov/pubmed/17428875", "http://www.ncbi.nlm.nih.gov/pubmed/9321388", "http://www.ncbi.nlm.nih.gov/pubmed/16371511", "http://www.ncbi.nlm.nih.gov/pubmed/15791592", "http://www.ncbi.nlm.nih.gov/pubmed/11734567", "http://www.ncbi.nlm.nih.gov/pubmed/11295498", "http://www.ncbi.nlm.nih.gov/pubmed/7957966", "http://www.ncbi.nlm.nih.gov/pubmed/22411744", "http://www.ncbi.nlm.nih.gov/pubmed/10995887", "http://www.ncbi.nlm.nih.gov/pubmed/20026058", "http://www.ncbi.nlm.nih.gov/pubmed/18948196", "http://www.ncbi.nlm.nih.gov/pubmed/10502681", "http://www.ncbi.nlm.nih.gov/pubmed/20491623", "http://www.ncbi.nlm.nih.gov/pubmed/9050876", "http://www.ncbi.nlm.nih.gov/pubmed/21976669", "http://www.ncbi.nlm.nih.gov/pubmed/17977463", "http://www.ncbi.nlm.nih.gov/pubmed/25413350", "http://www.ncbi.nlm.nih.gov/pubmed/22458048", "http://www.ncbi.nlm.nih.gov/pubmed/11175258", "http://www.ncbi.nlm.nih.gov/pubmed/9804081", "http://www.ncbi.nlm.nih.gov/pubmed/10657252" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:0000502", "http://amigo.geneontology.org/amigo/term/GO:0031144" ]

[ "Psychogenic purpura, also known as Gardner-Diamond syndrome, is a rare, distinctive, localized cutaneous reaction pattern mostly affecting psychologically disturbed adult women. Repeated crops of tender, ill-defined ecchymotic lesions on the extremities and external bleeding from other sites characterize the condition." ]

[]

[ "Antidepressants were prescribed by the psychiatrist that not only cured the depression with time but also the bleeding episodes which were actually related to child's depression (Gardner-Diamond syndrome or psychogenic purpura). ", "Psychogenic Purpura (Gardner-Diamond Syndrome).", "Psychogenic purpura, also known as Gardner-Diamond syndrome or autoerythrocyte sensitization syndrome, is a rare condition characterized by spontaneous development of painful edematous skin lesions progressing to ecchymosis over the next 24 hours. Severe stress and emotional trauma always precede the skin lesions. ", "Gardner Diamond syndrome is a rare condition characterized with painful ecchymoses in different parts of the body and cutaneous and mucosal hemorrhages. The etiology is not known fully and psychogenic factors are thought to be involved. ", "Psychogenic purpura, also known as Gardner-Diamond syndrome, is a rare, distinctive, localized cutaneous reaction pattern mostly affecting psychologically disturbed adult women. Repeated crops of tender, ill-defined ecchymotic lesions on the extremities and external bleeding from other sites characterize the condition. ", "PPDDM includes impulse control disorders, obsessive-compulsive disorders, factitious disorder, factitious disorder by proxy, self-mutilation, delusions of parasitosis, psychogenic purpura/Gardner-Diamond syndrome, and cutaneous sensory disorders.", "Psychogenic purpura (Gardner-Diamond syndrome) is the occurrence and spontaneous recurrence of painful ecchymosis following emotional stress and minor trauma. ", "We describe the clinical presentation and course of a patient with autoerythrocyte sensitization (Gardner-Diamond) syndrome, and review the literature for similar cases.", "Gardner-Diamond syndrome (GDS) is also known as psychogenic purpura, autoerythrocyte sensitization syndrome and painful bruising syndrome.", "Autoerythrocyte sensitization (Gardner-Diamond) syndrome mimicking compartment syndrome.", "Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome): review of the literature.", "We report a case with an unusual manifestation of autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome).", "The Gardner-Diamond syndrome is a disorder characterized by recurrent spontaneous painful bruising in patients with underlying psychosis and neurosis.", "A 54-year old anorectic patient with painful bruising syndrome (Gardner-Diamond syndrome) suffered from various gastrointestinal and psychologic complaints.", "This paper presents a 26-year-old woman with the characteristic features of Gardner-Diamond syndrome: recurrent painful bruises reproducible by intradermal injection of autologous red blood cells, and a \"hysterical\" personality pattern together with nonspecific multisystem complaints.", "Gardner-Diamond's syndrome, or autoerythrocyte sensitization, is a disorder of spontaneous, painful ecchymoses whose pathogenesis is unresolved.", "Autoerythrocyte sensitization (Gardner-Diamond) syndrome mimicking compartment syndrome.", "Autoerythrocyte sensitization (Gardner-Diamond) syndrome.", "Autoerythrocyte sensitization syndrome (Gardner-Diamond syndrome) associated with cutaneous vasculitis.", "Gardner-Diamond syndrome (GDS) is an uncommon disease clinically characterized by a wide spectrum of psycho-emotive symptoms associated with painful ecchymoses/purpuric lesions and positivity of auto-erythrocyte sensitization skin test." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26078671", "http://www.ncbi.nlm.nih.gov/pubmed/15956886", "http://www.ncbi.nlm.nih.gov/pubmed/18417404", "http://www.ncbi.nlm.nih.gov/pubmed/2345102", "http://www.ncbi.nlm.nih.gov/pubmed/12838436", "http://www.ncbi.nlm.nih.gov/pubmed/27011410", "http://www.ncbi.nlm.nih.gov/pubmed/23825859", "http://www.ncbi.nlm.nih.gov/pubmed/21548659", "http://www.ncbi.nlm.nih.gov/pubmed/4059144", "http://www.ncbi.nlm.nih.gov/pubmed/23580908", "http://www.ncbi.nlm.nih.gov/pubmed/26137346", "http://www.ncbi.nlm.nih.gov/pubmed/23723552", "http://www.ncbi.nlm.nih.gov/pubmed/26101006", "http://www.ncbi.nlm.nih.gov/pubmed/19192020", "http://www.ncbi.nlm.nih.gov/pubmed/19030312", "http://www.ncbi.nlm.nih.gov/pubmed/16023271", "http://www.ncbi.nlm.nih.gov/pubmed/10966177", "http://www.ncbi.nlm.nih.gov/pubmed/3627621", "http://www.ncbi.nlm.nih.gov/pubmed/20204908", "http://www.ncbi.nlm.nih.gov/pubmed/921453", "http://www.ncbi.nlm.nih.gov/pubmed/11475645" ]

[]

[]

[ "Annulus of Zinn is in the orbit." ]

[ "orbit", "EYE" ]

[ "Should the annular tendon of the eye be named 'annulus of Zinn' or 'of Valsalva'?", "The annular tendon is commonly named 'annulus of Zinn', from the German anatomist and botanist Johann Gottfried Zinn (1727-1759) who described this structure in his Descriptio anatomica oculi humani (Anatomical Description of the Human Eye, 1755).", "It arose at the annulus of Zinn, passing forwards between the inferior rectus muscle and lateral rectus muscle, and insert directly on the sclera. ", "Drilling was continued toward the annulus of Zinn (AZ) and optic nerve superiorly and over the intracavernous ICA posteriorly.", "Measurements before and after resection of the ACP included the length of C6 segment of the ICA on its lateral aspect; C6 segment length on its medial aspect; and medial length of the optic nerve from the optic chiasm to falciform ligament (before ACP resection) then to the annulus of Zinn (after ACP resection).", "The muscles, situated between the optic nerve and the lateral rectus muscle, originated from the annulus of Zinn and branched off two heads; one inserted into the medial inferior side of the superior rectus muscle and the other inserted into the central superior side of the inferior rectus muscle. ", " In 30 cadavers, the superior division of the oculomotor nerve was severed en bloc 1.5 cm anterior to the annulus of Zinn with the levator palpebrae superioris (LPS) and the superior rectus muscles. ", "The optic canal was subsequently removed en bloc, beginning at the annulus of Zinn and extending to the optic chiasm.", "PURPOSE: To describe a combined transcranial-orbital approach for en bloc resection of optic nerve gliomas with preservation of the annulus of Zinn that minimizes recurrence and prevents postoperative paralytic ptosis.DESIGN: A retrospective, noncomparative, interventional case series.STUDY POPULATION: All patients who underwent optic nerve glioma resections using this technique with the authors between 1994 and 2010.PROCEDURE: A transcranial-orbital approach is used to resect the intracranial segment of the optic nerve glioma from 2 mm anterior to the chiasm to the posterior extent of annulus of Zinn.", "No patients had tumor recurrence or developed postoperative paralytic ptosis.CONCLUSIONS: The combined transcranial-orbital approach with preservation of the annulus of Zinn is a safe and effective way to remove optic nerve gliomas and ensure tumor clearance while avoiding paralytic ptosis.", "To describe a combined transcranial-orbital approach for en bloc resection of optic nerve gliomas with preservation of the annulus of Zinn that minimizes recurrence and prevents postoperative paralytic ptosis.A retrospective, noncomparative, interventional case series.All patients who underwent optic nerve glioma resections using this technique with the authors between 1994 and 2010.A transcranial-orbital approach is used to resect the intracranial segment of the optic nerve glioma from 2 mm anterior to the chiasm to the posterior extent of annulus of Zinn", "Through a superior orbitotomy exposure, the entire retrobulbar segment of the tumor is transected from the globe to the annulus of Zinn", "A simulation of the procedure in a cadaver and en bloc resection of the orbital apex are performed to demonstrate the subdural plane of dissection within the annulus of Zinn.Postoperative outcome measures include: health of the ipsilateral globe, paralytic ptosis, postoperative complications, and tumor recurrence.Eleven patients underwent resection of optic nerve gliomas using this technique", "No patients had tumor recurrence or developed postoperative paralytic ptosis.The combined transcranial-orbital approach with preservation of the annulus of Zinn is a safe and effective way to remove optic nerve gliomas and ensure tumor clearance while avoiding paralytic ptosis", "The orbital surface of the medial rectus and inferior rectus are exposed from the annulus of Zinn to a position close to where the muscles penetrate Tenons capsule", "The orbital surface of the medial rectus and inferior rectus are exposed from the annulus of Zinn to a position close to where the muscles penetrate Tenon's capsule. ", "The muscles, situated between the optic nerve and the lateral rectus muscle, originated from the annulus of Zinn and branched off two heads; one inserted into the medial inferior side of the superior rectus muscle and the other inserted into the central superior side of the inferior rectus muscle.", "The optic canal was subsequently removed en bloc, beginning at the annulus of Zinn and extending to the optic chiasm.", "The distance from the annulus of Zinn to the trochlea was the same in both eyes.The findings for our patients, particularly in those who underwent additional high resolution MRI, did not provide evidence of a lack of CN IV as a cause of Brown syndrome.", "Should the annular tendon of the eye be named 'annulus of Zinn' or 'of Valsalva'?", "The distance from the annulus of Zinn to the trochlea was the same in both eyes.", "The optic canal was subsequently removed en bloc, beginning at the annulus of Zinn and extending to the optic chiasm.", "Through a superior orbitotomy exposure, the entire retrobulbar segment of the tumor is transected from the globe to the annulus of Zinn." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24697862", "http://www.ncbi.nlm.nih.gov/pubmed/25650797", "http://www.ncbi.nlm.nih.gov/pubmed/9783284", "http://www.ncbi.nlm.nih.gov/pubmed/22336122", "http://www.ncbi.nlm.nih.gov/pubmed/21772799", "http://www.ncbi.nlm.nih.gov/pubmed/16917665", "http://www.ncbi.nlm.nih.gov/pubmed/16955671", "http://www.ncbi.nlm.nih.gov/pubmed/22581081", "http://www.ncbi.nlm.nih.gov/pubmed/11601571", "http://www.ncbi.nlm.nih.gov/pubmed/17080461", "http://www.ncbi.nlm.nih.gov/pubmed/25744329", "http://www.ncbi.nlm.nih.gov/pubmed/8604741", "http://www.ncbi.nlm.nih.gov/pubmed/17667093", "http://www.ncbi.nlm.nih.gov/pubmed/8827557" ]

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[ "HMG Co-A reductase inhibitors, commonly known as statins, also display wide interindividual variability in plasma concentration, response and toxicity due in part to polymorphisms in transporter genes, including SLCO1B1 and ABCG2. The SLCO1B1*5 variant is a risk factor for statin side effects and exhibits statin-specific effects: highest with simvastatin/atorvastatin and lowest with pravastatin/rosuvastatin." ]

[ "Statin treatment" ]

[ "including the well-known genetic variant associated with statin-associated muscle symptoms-solute carrier organic anion transporter family, member 1B1 (SLCO1B1) rs4149056-also increase the risk of statin-associated muscle symptoms in FH patients", "Statin-associated muscle symptoms and SLCO1B1 rs4149056 genotype in patients with familial hypercholesterolemia.", "Similarly, HMG Co-A reductase inhibitors, commonly known as statins, also display wide interindividual variability in plasma concentration, response and toxicity due in part to polymorphisms in transporter genes, including SLCO1B1 and ABCG2.", "Association of SLCO1B1 gene polymorphisms with toxicity response of high dose methotrexate chemotherapy in childhood acute lymphoblastic leukemia.", " development of SLCO1B1 genotyping to avoid statin induced adverse drug reactions is discussed as a model case for transporter pharmacogenetics clinical development.", "Statin adherence is often limited by side effects. The SLCO1B1*5 variant is a risk factor for statin side effects and exhibits statin-specific effects: highest with simvastatin/atorvastatin and lowest with pravastatin/rosuvastatin. The effects of SLCO1B1*5 genotype guided statin therapy (GGST) are unknown" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26131212", "http://www.ncbi.nlm.nih.gov/pubmed/27595674", "http://www.ncbi.nlm.nih.gov/pubmed/25181036", "http://www.ncbi.nlm.nih.gov/pubmed/25150868", "http://www.ncbi.nlm.nih.gov/pubmed/25563221" ]

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[]

[ "circRNA_finder, find_circ, CIRCexplorer, CIRI, and MapSplice." ]

[ "circRNA_finder", "find_circ", "CIRCexplorer", "CIRI", "MapSplice" ]

[ "CircRNAs are novel members of the non-coding RNA family. For several decades circRNAs have been known to exist, however only recently the widespread abundance has become appreciated. Annotation of circRNAs depends on sequencing reads spanning the backsplice junction and therefore map as non-linear reads in the genome. Several pipelines have been developed to specifically identify these non-linear reads and consequently predict the landscape of circRNAs based on deep sequencing datasets. Here, we use common RNAseq datasets to scrutinize and compare the output from five different algorithms; circRNA_finder, find_circ, CIRCexplorer, CIRI, and MapSplice and evaluate the levels of bona fide and false positive circRNAs based on RNase R resistance. By this approach, we observe surprisingly dramatic differences between the algorithms specifically regarding the highly expressed circRNAs and the circRNAs derived from proximal splice sites. Collectively, this study emphasizes that circRNA annotation should be handled with care and that several algorithms should ideally be combined to achieve reliable predictions." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26657634" ]

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[]

[ "Nusinersen us used for treatment of Spinal Muscular Atrophy." ]

[ "Spinal Muscular Atrophy", "SMA" ]

[ "Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience.", "Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy. We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension.", "Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.", "OBJECTIVE: To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).METHODS: Nusinersen was delivered by intrathecal injection to medically stable patients with type 2 and type 3 SMA aged 2-14 years in an open-label phase 1 study and its long-term extension. ", "CONCLUSIONS: Results from this study support continued development of nusinersen for treatment of SMA.CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that in children with SMA, intrathecal nusinersen is not associated with safety or tolerability concerns.", "Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.", "BACKGROUND: Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.METHODS: This open-label, phase 2, escalating dose clinical study assessed the safety and tolerability, pharmacokinetics, and clinical efficacy of multiple intrathecal doses of nusinersen (6 mg and 12 mg dose equivalents) in patients with infantile-onset spinal muscular atrophy. ", "Results informed the design of an ongoing, sham-controlled, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy.", "Nusinersen is a 2'-O-methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy.", "Nusinersen (ISIS-SMNRx or ISIS 396443) is an antisense oligonucleotide drug administered intrathecally to treat spinal muscular atrophy.", "We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension.", "Nusinersen is specifically designed to alter splicing of SMN2 pre-mRNA and thus increase the amount of functional survival motor neuron (SMN) protein that is deficient in patients with spinal muscular atrophy.", "To examine safety, tolerability, pharmacokinetics, and preliminary clinical efficacy of intrathecal nusinersen (previously ISIS-SMNRx), an antisense oligonucleotide designed to alter splicing of SMN2 mRNA, in patients with childhood spinal muscular atrophy (SMA).", "Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience.", "Results from this study support continued development of nusinersen for treatment of SMA.", "Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.", "Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.", "Results informed the design of an ongoing, sham-controlled, phase 3 clinical study of nusinersen in infantile-onset spinal muscular atrophy.", "This study provides Class IV evidence that in children with SMA, intrathecal nusinersen is not associated with safety or tolerability concerns..", "We summarize lumbar puncture experience in children with spinal muscular atrophy during a phase 1 open-label study of nusinersen and its extension." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26823478", "http://www.ncbi.nlm.nih.gov/pubmed/27939059", "http://www.ncbi.nlm.nih.gov/pubmed/26865511" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category" ]

[ "London mutation that is the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile) is involved in Alzheimer's Disease." ]

[ "Alzheimer's Disease", "AD" ]

[ "In the present study, we used a new training paradigm in the intelliCage automatic behavioral assessment system to investigate cognitive functions of the transgenic mice harboring London mutation of the human amyloid precursor protein (APP.V717I). ", "The novel approach to study the transgenic mice cognitive abilities presented in this paper offers new insight into cognitive dysfunctions of the Alzheimer's disease mouse model.", "One major hallmark of Alzheimer's disease (AD) is the massive loss of synapses that occurs at an early clinical stage of the disease. In this study, we characterize alterations in spine density and the expression of synapse-associated immediate early gene Arc (activity-regulated cytoskeleton-associated protein) in the hippocampal CA1 regions of two different amyloid precursor protein (APP) transgenic mouse lines before plaque development and their connection to performance in hippocampus-dependent memory tests. The density of mushroom-type spines was reduced by 34% in the basal dendrites proximal to the soma of CA1 pyramidal neurons in 5.5-month-old Tg2576 mice, carrying the Swedish mutation, compared with wild-type littermates. A similar reduction of 42% was confirmed in the same region of 8-month-old APP/Lo mice, carrying the London mutation.", "The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease.", "We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.", "In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation.", "A pathological hallmark in the brain of an AD patient is extracellular amyloid plaques formed by accumulated beta-amyloid protein (Abeta), a metabolic product of amyloid precursor protein (APP). Studies have revealed a strong genetic linkage in the early-onset familial form (<60 years old) of AD. For example, some mutant APPs are transmitted dominantly and are segregated with inheritance of early onset AD. These mutants facilitate Abeta production. The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants. ", "The sequences that are effective to silence APP(SW) and APP(LON) as identified in this study may be useful in both in vivo and in vitro studies to investigate the pathophysiological role of APP(SW) and APP(LON) in AD development.", "Here, we show ASP-RNAi against the Swedish- and London-type amyloid precursor protein (APP) variants related to familial Alzheimer's disease using two reporter alleles encoding the Photinus and Renilla luciferase genes and carrying mutant and wild-type allelic sequences in their 3'-untranslated regions. ", "Transgenic mice over-expressing a mutated form of the human amyloid precursor protein (APP, 695 isoform) bearing a mutation associated with Alzheimer's disease (V642I, so-called London mutation, hereafter APPLd2) and wild-type controls were studied at age periods (3 and 10 months) prior to the overt development of neuritic amyloid plaques.", "The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants.", "Allele-specific silencing of Alzheimer's disease genes: the amyloid precursor protein genes with Swedish or London mutations.", "Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimers disease (AD).We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far", "The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimers disease", "We analyzed the cytotoxic mechanisms of the London-type AbetaPP mutant, V642I-AbetaPP, in primary cortical neurons utilizing an adenovirus-mediated gene transfer system.", "We demonstrate that the APP-London and PS1 mutations have additive effects on the increased secretion of betaA4(1-42) relative to betaA4(1-40), indicating that both mutations operate independently.", "Pathogenic mutations in APP at codon 717 (APP \"London\") lead to an increased proportion of Abeta 1-42 being produced and secreted.", "The \"Swedish\" mutations (APP(SW)) and the \"London\" mutation (APP(LON)) are examples of these mutants.", "Allele-specific silencing of Alzheimer's disease genes: the amyloid precursor protein genes with Swedish or London mutations.", "We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.", "The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease.", "Such cleavage is promoted by the Swedish and London mutations (APPSwe/Lon) inside the APP gene.", "We also show that the Swedish and London mutations reduce the amount of APP in the lysosome.", "This rapid transit to the lysosome is blocked by the presence of either the London or Swedish mutations." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17431643", "http://www.ncbi.nlm.nih.gov/pubmed/10525535", "http://www.ncbi.nlm.nih.gov/pubmed/16426772", "http://www.ncbi.nlm.nih.gov/pubmed/20523046", "http://www.ncbi.nlm.nih.gov/pubmed/15380017", "http://www.ncbi.nlm.nih.gov/pubmed/24145776", "http://www.ncbi.nlm.nih.gov/pubmed/27421117", "http://www.ncbi.nlm.nih.gov/pubmed/21389247", "http://www.ncbi.nlm.nih.gov/pubmed/22171952", "http://www.ncbi.nlm.nih.gov/pubmed/16467370", "http://www.ncbi.nlm.nih.gov/pubmed/24524897", "http://www.ncbi.nlm.nih.gov/pubmed/17215062", "http://www.ncbi.nlm.nih.gov/pubmed/15197738", "http://www.ncbi.nlm.nih.gov/pubmed/23747045", "http://www.ncbi.nlm.nih.gov/pubmed/20409323", "http://www.ncbi.nlm.nih.gov/pubmed/15314265", "http://www.ncbi.nlm.nih.gov/pubmed/19771217", "http://www.ncbi.nlm.nih.gov/pubmed/25108425", "http://www.ncbi.nlm.nih.gov/pubmed/20025930", "http://www.ncbi.nlm.nih.gov/pubmed/10500121" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017354", "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000544", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020125", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016564", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194" ]

[ "Long noncoding RNAs (lncRNAs) represent a newly discovered class of regulatory molecules that impact a variety of biological processes in cells and organ systems. In humans, it is estimated that there may be more than twice as many lncRNA genes than protein-coding genes. However, only a handful of lncRNAs have been analyzed in detail.\nLong non-coding RNAs (lncRNAs) are emerging as key molecules in cancers, yet their potential molecular mechanisms are not well understood.\nlong noncoding RNAs (lncRNAs), the largest family of noncoding transcripts, have emerged as common regulators of many cellular stressors; including heat shock, metabolic deprivation and DNA damage." ]

[]

[ "Protein-coding genes account for only 2% of the human genome, whereas the vast majority of transcripts are noncoding RNAs including long noncoding RNAs. LncRNAs are involved in the regulation of a diverse array of biological processes, including cancer progression", "Recently, aberrant expression of long noncoding RNAs (lncRNAs) has been considered as a primary feature of many types of cancer.", "Long noncoding RNAs (lncRNAs) represent a newly discovered class of regulatory molecules that impact a variety of biological processes in cells and organ systems. In humans, it is estimated that there may be more than twice as many lncRNA genes than protein-coding genes. However, only a handful of lncRNAs have been analyzed in detail.", "Genomic imprinting has been a great resource for studying transcriptional and post-transcriptional-based gene regulation by long noncoding RNAs (lncRNAs).", "Long non-coding RNAs (lncRNAs) are emerging as key molecules in cancers, yet their potential molecular mechanisms are not well understood. ", "long noncoding RNAs (lncRNAs), the largest family of noncoding transcripts, have emerged as common regulators of many cellular stressors; including heat shock, metabolic deprivation and DNA damage. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26207516", "http://www.ncbi.nlm.nih.gov/pubmed/26166759", "http://www.ncbi.nlm.nih.gov/pubmed/25994219", "http://www.ncbi.nlm.nih.gov/pubmed/26004516", "http://www.ncbi.nlm.nih.gov/pubmed/26142536", "http://www.ncbi.nlm.nih.gov/pubmed/27729273" ]

[]

[]

[ "Human gut microbiota is home to 10 to 100 trillions microorganisms." ]

[ "10 to 100 trillions microorganisms." ]

[ ". A major breakthrough in understanding the etiology of neurological disorders is the recent insight on the role of the gut microbiota (GM). Human GM also referred to as the \"forgotten organ\" is home to 10(13-14) microorganisms", "The gut microbiome comprises the collective genome of the trillions of microorganisms residing in our gastrointestinal ecosystem.", "The gut microbiome (i.e. the 100 trillion symbiotic microorganisms which inhabit the mammalian gastrointestinal tract) influences numerous aspects of host metabolism, development and immunity.", "The microorganisms inhabiting the human gut are abundant (10(14) cells) and diverse (approximately 500 species per individual)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26613639", "http://www.ncbi.nlm.nih.gov/pubmed/26627987", "http://www.ncbi.nlm.nih.gov/pubmed/26908163", "http://www.ncbi.nlm.nih.gov/pubmed/26945826" ]

[]

[]

[ "3,4-diaminobenzoic acid derivatives are inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties. Cell-based analysis indicated that the lead compounds can be effective in downregulating macrophage activation induced by lipopolysaccharide and interferon-γ as well as cross-presentation by bone marrow-derived dendritic cells." ]

[ "Inhibition of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties." ]

[ "3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties.", "Members of the oxytocinase subfamily of M1 aminopeptidases (ERAP1, ERAP2, and IRAP) play important roles in both the adaptive and innate human immune responses. Their enzymatic activity can contribute to the pathogenesis of several major human diseases ranging from viral and parasitic infections to autoimmunity and cancer. We have previously demonstrated that diaminobenzoic acid derivatives show promise as selective inhibitors for this group of aminopeptidases. In this study, we have thoroughly explored a series of 3,4-diaminobenzoic acid derivatives as inhibitors of this class of enzymes, achieving submicromolar inhibitors for ERAP2 (IC50 = 237 nM) and IRAP (IC50 = 105 nM). Cell-based analysis indicated that the lead compounds can be effective in downregulating macrophage activation induced by lipopolysaccharide and interferon-γ as well as cross-presentation by bone marrow-derived dendritic cells. Our results indicate that this class of inhibitors may be useful for the targeted downregulation of immune responses.", "3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties", "Members of the oxytocinase subfamily of M1 aminopeptidases (ERAP1, ERAP2, and IRAP) play important roles in both the adaptive and innate human immune responses.", "3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25635706" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007154", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4258378", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007107", "http://www.biosemantics.org/jochem#4258378" ]

[ "Yes, nicotinamide adenine dinucleotide phosphate (NADPH) oxidase can be inhibited by apocynin or diphenylene iodonium (DPI)." ]

[ "yes" ]

[ "Ang II treatment also led to a significant increment in intracellular reactive oxygen species generation, which could be fully abolished by nicotinamide adenine dinucleotide phosphate (NADPH) oxidase inhibitors apocynin or diphenylene iodonium, indicating that Ang II enhanced oxidative stress via a NADPH oxidase-dependent manner.", "NOX inhibitors (diphenylene iodonium (DPI) or apocynin) were able to achieve similar results to that of ML-7 except no effect on MLCK activity and MLC20 phosphorylation. ", "Significant reductions of AII effects on podocyte TRPC6 were also observed after pretreatment with NADPH oxidase inhibitors apocynin or diphenylene iodonium (DPI). ", "Furthermore, inhibition of NOX-mediated ROS production with apocynin, diphenylene iodonium (DPI) or NOX2 docking sequence (Nox2ds)-tat peptide during these first 4h of PE stimulation significantly inhibited PE-induced hypertrophy of H9c2 cells, both after 24 and 48h of PE stimulation. ", "Remarkably, Ang-II induced reactive oxygen species (ROS) via a NAD(P)H oxidase-dependent mechanism, as shown by inhibition of ROS production via the NAD(P)H oxidase inhibitors diphenylene iodonium (DPI) and apocynin. ", "Moreover, NADPH oxidase activation by beta CD (145.5+/-9.0%; control: 98.6+/-1.6%) was also abrogated by the NADPH oxidase inhibitors apocynin (100.4+/-3.2%) and diphenylene iodonium (9.5+/-3.3%).", "We used structurally diverse NADPH oxidase inhibitors, aminoethyl-benzenesulfonylfluoride (AEBSF, 100-1000microM), apocynin (100-1000microM), and diphenylene iodonium (DPI, 3-30microM), to inhibit intrinsic NADPH oxidase activity in N27 cells.", "Paraquat-induced ROS production was inhibited by NADPH oxidase inhibitors, apocynin and diphenylene iodonium (DPI), but not the xanthine/xanthine oxidase inhibitor, allopurinol.", "With the use of dihydroethidium as a superoxide indicator, C(2)-ceramide was found to increase superoxide production in the endothelial cells of small coronary arteries, which was inhibited by the NADPH oxidase inhibitors N-vanillylnonanamide, apocynin, and diphenylene iodonium.", "The contractile responses to U46619 in isolated PA were inhibited by PEG-catalase and the NADPH oxidase inhibitors diphenylene iodonium (DPI) and apocynin.", "The effects of diphenylene iodonium (DPI) and apocynin, inhibitors of NADPH oxidase, on key parameters of PSC activation were evaluated in vitro.", "These effects could be inhibited by diphenylene iodonium and apocynin, indicating a self-cycle regulated by NADPH oxidase in microglial activation in response to oAâ.", "Diphenylene iodonium is an inhibitor of the respiratory burst-generating NADPH oxidase of phagocytes.", "NADPH oxidase inhibitors [diphenylene iodonium (DPI) and apocynin (4-hydroxy-3-methoxy-acetophenone)] prevented the microglial activation induced by oAâ, suggesting that NADPH oxidase activation was involved in microglial activation.", "In addition, inhibitors of NADPH oxidase (diphenylene iodonium or apocynin) also prevented microglia proliferation, suggesting that this may be the source of hydrogen peroxide.", "Inhibitors of NADPH oxidase (diphenylene iodonium, apocynin, D-(+)-neopterine) also significantly blunted the generation of reactive oxygen species, activation of K(+), Cl(-)-cotransport and apoptosis induced by N-ethylmaleimide.", "With the use of dihydroethidium as a superoxide indicator, C(2)-ceramide was found to increase superoxide production in the endothelial cells of small coronary arteries, which was inhibited by the NADPH oxidase inhibitors N-vanillylnonanamide, apocynin, and diphenylene iodonium.", "NADPH-dependent superoxide production by the solubilized oxidase of neutrophils was inhibited 36% by diphenylene iodonium at a 1:1 stoichiometry with the enzyme flavoprotein content.", "These effects could be inhibited by diphenylene iodonium and apocynin, indicating a self-cycle regulated by NADPH oxidase in microglial activation in response to oAβ", "Moreover, CSE-regulated COX-2, PGE(2), and IL-6 generation was inhibited by pretreatment with TLR4 Ab; inhibitors of c-Src (PP1), NADPH oxidase (diphenylene iodonium chloride and apocynin), p38 MAPK (SB202190), MEK1/2 (U0126), JNK1/2 (SP600125), and NF-kappaB (helenalin); a ROS scavenger (N-acetyl-l-cysteine); and transfection with siRNA of TLR4, MyD88, TRAF6, Src, p47(phox), p38, p42, JNK2, or p65", "Treatment of the cells with the NADPH oxidase inhibitors, apocynin and diphenylene iodonium, inhibited these effects", "With the use of dihydroethidium as a superoxide indicator, C(2)-ceramide was found to increase superoxide production in the endothelial cells of small coronary arteries, which was inhibited by the NADPH oxidase inhibitors N-vanillylnonanamide, apocynin, and diphenylene iodonium", "UVB irradiation generated ROS in a dose-dependent manner, and this was significantly inhibited by diphenylene iodonium (DPI), apocynin (Apo) and neopterine (Neo), inhibitors of the NADPH oxidase, and indomethacin (Indo), a cyclooxygenase (COX) inhibitor, but not by the mitochondrial electron transport inhibitors and other cytosolic enzyme inhibitors", "In RBA-1 cells, JEV induced MMP-9 expression and promoter activity, which was inhibited by pretreatment with inhibitors of NADPH oxidase (diphenylene iodonium chloride or apocynin), MAPKs (U0126, SB203580 or SP600125) and a ROS scavenger (N-acetylcysteine), or transfection with siRNAs of p47(phox) , ERK1, JNK2 and p38", "Such discharge of Dectin-1-reactive β-glucan from macrophage cells was inhibited by either NADPH oxidase inhibitors (apocynin and diphenylene iodonium) or radical scavengers (N-acetyl cysteine and MCI-186)", "The contractile responses to U46619 in isolated PA were inhibited by PEG-catalase and the NADPH oxidase inhibitors diphenylene iodonium (DPI) and apocynin", "ANG II further increased superoxide production in LP only, and this was inhibited by coincubation with diphenylene iodonium or apocynin (inhibitor of NADPH oxidase complex)", "Our results showed that IL-1beta enhanced HTSMCs-monocyte adhesion through up-regulation of VCAM-1, which was inhibited by pretreatment with selective inhibitors of PKCalpha (Gö6976), c-Src (PP1), NADPH oxidase [diphenylene iodonium (DPI) and apocynin (APO)], intracellular calcium chelator (BAPTA/AM), PI-PLC (U73122), CaM (calmidazolium chloride), CaM kinase II (KN62), p300 (garcinol), NF-kappaB (Bay11-7082), HDAC (trichostatin A), and ROS scavenger [N-acetyl-L-cysteine (NAC)] or transfection with siRNAs of MyD88, PKCalpha, Src, p47(phox), p300, and HDAC4.", "Here we show that cAMP-dependent decidualization can be attenuated or enhanced upon treatment of primary cultures with a nicotinamide adenine dinucleotide phosphate (NADPH) oxidase inhibitor (diphenylen iodonium) or activator (apocynin), respectively. ", "With the use of dihydroethidium as a superoxide indicator, C(2)-ceramide was found to increase superoxide production in the endothelial cells of small coronary arteries, which was inhibited by the NADPH oxidase inhibitors N-vanillylnonanamide, apocynin, and diphenylene iodonium. ", "The inhibition of NAD(P)H oxidase by apocynin and diphenylene iodonium, and of the mitochondrial electron transport system at complex II by thenoyltrifluoroacetone (TTFA), significantly inhibited both AGE-induced ROS production and VCAM-1 expression, whereas these effects were potentiated by rotenone and antimycin A, specific inhibitors of mitochondrial complex I and III, respectively. ", "Paraquat-induced ROS production was inhibited by NADPH oxidase inhibitors, apocynin and diphenylene iodonium (DPI), but not the xanthine/xanthine oxidase inhibitor, allopurinol. ", "Treatment of the cells with the NADPH oxidase inhibitors, apocynin and diphenylene iodonium, inhibited these effects. ", "The G6PD inhibitor DHEA and the inhibitors of NADPH oxidase apocynin and diphenylene iodonium (DPI) prevented both superoxide generation and capacitation in human spermatozoa, but whereas DPI and DHEA inhibited PPP, apocynin did not influence it, suggesting that PPP activation during capacitation is not a response to increased oxidative stress but exerts a role by supplying reducing equivalents to oxygen.", "Ang II induced a time-dependent increase in Rac1 activation and O(2)(*-) production in Neuro-2A cells, and this was abolished by pretreatment with AdN17Rac1 or the NADPH oxidase inhibitors apocynin or diphenylene iodonium. ", "Paraquat-induced ROS production was inhibited by NADPH oxidase inhibitors, apocynin and diphenylene iodonium (DPI), but not the xanthine/xanthine oxidase inhibitor, allopurinol.", "In RBA-1 cells, JEV induced MMP-9 expression and promoter activity, which was inhibited by pretreatment with inhibitors of NADPH oxidase (diphenylene iodonium chloride or apocynin), MAPKs (U0126, SB203580 or SP600125) and a ROS scavenger (N-acetylcysteine), or transfection with siRNAs of p47(phox) , ERK1, JNK2 and p38.", "These effects could be inhibited by diphenylene iodonium and apocynin, indicating a self-cycle regulated by NADPH oxidase in microglial activation in response to oAβ.", "Treatment of the cells with the NADPH oxidase inhibitors, apocynin and diphenylene iodonium, inhibited these effects.", "UVB irradiation generated ROS in a dose-dependent manner, and this was significantly inhibited by diphenylene iodonium (DPI), apocynin (Apo) and neopterine (Neo), inhibitors of the NADPH oxidase, and indomethacin (Indo), a cyclooxygenase (COX) inhibitor, but not by the mitochondrial electron transport inhibitors and other cytosolic enzyme inhibitors.", "Such discharge of Dectin-1-reactive β-glucan from macrophage cells was inhibited by either NADPH oxidase inhibitors (apocynin and diphenylene iodonium) or radical scavengers (N-acetyl cysteine and MCI-186).", "Our results showed that IL-1beta enhanced HTSMCs-monocyte adhesion through up-regulation of VCAM-1, which was inhibited by pretreatment with selective inhibitors of PKCalpha (Gö6976), c-Src (PP1), NADPH oxidase [diphenylene iodonium (DPI) and apocynin (APO)], intracellular calcium chelator (BAPTA/AM), PI-PLC (U73122), CaM (calmidazolium chloride), CaM kinase II (KN62), p300 (garcinol), NF-kappaB (Bay11-7082), HDAC (trichostatin A), and ROS scavenger [N-acetyl-L-cysteine (NAC)] or transfection w", "Moreover, CSE-regulated COX-2, PGE(2), and IL-6 generation was inhibited by pretreatment with TLR4 Ab; inhibitors of c-Src (PP1), NADPH oxidase (diphenylene iodonium chloride and apocynin), p38 MAPK (SB202190), MEK1/2 (U0126), JNK1/2 (SP600125), and NF-kappaB (helenalin); a ROS scavenger (N-acetyl-l-cysteine); and transfection with siRNA of TLR4, MyD88, TRAF6, Src, p47(phox), p38, p42, JNK2, or p65.", "The use of diphenylene iodonium, an inhibitor of NADPH oxidase, to investigate the antimicrobial action of human monocyte derived macrophages.", "NADPH oxidase inhibitors [diphenylene iodonium (DPI) and apocynin (4-hydroxy-3-methoxy-acetophenone)] prevented the microglial activation induced by oAβ, suggesting that NADPH oxidase activation was involved in microglial activation.", "Furthermore, inhibition of NOX-mediated ROS production with apocynin, diphenylene iodonium (DPI) or NOX2 docking sequence (Nox2ds)-tat peptide during these first 4h of PE stimulation significantly inhibited PE-induced hypertrophy of H9c2 cells, both after 24 and 48h of PE stimulation.", "We compared the pharmacological profiles of the commonly used NADPH oxidase inhibitors, diphenylene iodonium (DPI), apocynin and 4-(2-amino-ethyl)-benzolsulphonyl-fluoride (AEBSF), as well as the novel triazolo pyrimidine VAS3947.", "IL-1beta and TNF-alpha rapidly stimulated the rate of hydrogen peroxide produced by isolated microglia, and this was inhibited by diphenylene iodonium, implying that the cytokines were acting directly on microglia to stimulate the NADPH oxidase.", "The fractions achieved the same effects that known NADPH oxidase inhibitors, such as diphenylene iodonium and apocynin, but they presented better hydrosolubility.", "Ang II induced a time-dependent increase in Rac1 activation and O(2)(*-) production in Neuro-2A cells, and this was abolished by pretreatment with AdN17Rac1 or the NADPH oxidase inhibitors apocynin or diphenylene iodonium." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22503982", "http://www.ncbi.nlm.nih.gov/pubmed/21693104", "http://www.ncbi.nlm.nih.gov/pubmed/17962358", "http://www.ncbi.nlm.nih.gov/pubmed/17046555", "http://www.ncbi.nlm.nih.gov/pubmed/19819434", "http://www.ncbi.nlm.nih.gov/pubmed/1324836", "http://www.ncbi.nlm.nih.gov/pubmed/15271858", "http://www.ncbi.nlm.nih.gov/pubmed/12424096", "http://www.ncbi.nlm.nih.gov/pubmed/16393992", "http://www.ncbi.nlm.nih.gov/pubmed/15308331", "http://www.ncbi.nlm.nih.gov/pubmed/25920934", "http://www.ncbi.nlm.nih.gov/pubmed/18195159", "http://www.ncbi.nlm.nih.gov/pubmed/24794531", "http://www.ncbi.nlm.nih.gov/pubmed/26728380", "http://www.ncbi.nlm.nih.gov/pubmed/24037962", "http://www.ncbi.nlm.nih.gov/pubmed/22134950", "http://www.ncbi.nlm.nih.gov/pubmed/11755128", "http://www.ncbi.nlm.nih.gov/pubmed/20698853", "http://www.ncbi.nlm.nih.gov/pubmed/16741139", "http://www.ncbi.nlm.nih.gov/pubmed/17341601", "http://www.ncbi.nlm.nih.gov/pubmed/19892012", "http://www.ncbi.nlm.nih.gov/pubmed/15845907", "http://www.ncbi.nlm.nih.gov/pubmed/3800872", "http://www.ncbi.nlm.nih.gov/pubmed/17662968", "http://www.ncbi.nlm.nih.gov/pubmed/17904225", "http://www.ncbi.nlm.nih.gov/pubmed/23229789", "http://www.ncbi.nlm.nih.gov/pubmed/21159852", "http://www.ncbi.nlm.nih.gov/pubmed/12867501", "http://www.ncbi.nlm.nih.gov/pubmed/19281832", "http://www.ncbi.nlm.nih.gov/pubmed/2121828", "http://www.ncbi.nlm.nih.gov/pubmed/15346654", "http://www.ncbi.nlm.nih.gov/pubmed/25666589", "http://www.ncbi.nlm.nih.gov/pubmed/20860666" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:0016174", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4251947", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019255", "http://www.biosemantics.org/jochem#4270191", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4276074", "http://amigo.geneontology.org/amigo/term/GO:0043020" ]

[ "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic." ]

[ "Northeast Siberia" ]

[ "BACKGROUND: Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.", "Communicating hydrocephalus following eosinophilic meningitis is pathogenic for chronic Viliuisk encephalomyelitis in Northeastern Siberia.", "Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia.", ". An epidemic of this disease has been spreading throughout the Yakut Republic of the Russian Federation.", "METHODS: Detailed clinical, pathologic, laboratory, and epidemiologic studies have identified 414 patients with definite Viliuisk encephalomyelitis in 15 of 33 administrative regions of the Yakut Republic between 1940 and 1999.", "Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases.", "Viliuisk encephalomyelitis (VE) is a unique disease occurring in the Yakut (Sakha) population of Eastern Siberia. ", "Viliuisk encephalomyelitis in Northeastern Siberia is not caused by Borrelia burgdorferi infection.", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeastern Siberia and generally believed to be a chronic encephalomyelitis of unknown origin. ", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeastern Siberia and generally believed to be a chronic encephalomyelitis of unknown origin.", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.", "Viliuisk encephalomyelitis in the Iakut people of Siberia.", "Initially identified in a small Yakut-Evenk population on the Viliui River of eastern Siberia, the disease subsequently spread through human contacts to new geographic areas, thus characterizing Viliuisk encephalomyelitis as an emerging infectious disease.", "Viliuisk encephalomyelitis (VE) is an unique neurological disease occurring in the Iakut (Sakha) people of Siberia.", "Viliuisk encephalomyelitis (VEM) appears to be endemic disease, affecting native population in Yakutia (Yakut, Even, Evenk).", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.In search for the pathophysiology and causative agent of VE, we performed a cross-sectional study on clinical, serological and neuroimaging data on chronic VE patients during two medical expeditions to three villages within the Viliuiski river basin in the Republic of Sakha in 2000 and to the capital Yakutsk in 2006", "Initially identified in a small Yakut-Evenk population on the Viliui River of eastern Siberia, the disease subsequently spread through human contacts to new geographic areas, thus characterizing Viliuisk encephalomyelitis as an emerging infectious disease", "Viliuisk encephalomyelitis (VE) is a unique disease occurring in the Yakut (Sakha) population of Eastern Siberia", "Viliuisk encephalomyelitis in Northeastern Siberia is not caused by Borrelia burgdorferi infection", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeastern Siberia and generally believed to be a chronic encephalomyelitis of unknown origin", "Initially identified in a small Yakut-Evenk population on the Viliui River of eastern Siberia, the disease subsequently spread through human contacts to new geographic areas, thus characterizing Viliuisk encephalomyelitis as an emerging infectious disease.", "Viliuisk encephalomyelitis (VE) is an endemic neurological disease in Northeast Siberia and generally considered to be a chronic encephalomyelitis of unknown origin actually spreading in the Sakha (Yakutian) Republic.In search for the pathophysiology and causative agent of VE, we performed a cross-sectional study on clinical, serological and neuroimaging data on chronic VE patients during two medical expeditions to three villages within the Viliuiski river basin in the Republic of Sakha in 2000 and to the capital Yakutsk in 2006.", "IgG antibodies to HTLV-I were measured in the sera and/or cerebrospinal fluid from 82 Guamanian patients with amyotrophic lateral sclerosis and parkinsonism-dementia, 164 Guamanian normal controls, 10 patients with kuru from the Eastern Highlands of Papua New Guinea, 4 patients with Viliuisk encephalomyelitis from the Iakut region of eastern Siberia, 45 Italian patients with multiple sclerosis, and 56 patients with polymyositis (49 from the United States and 7 from Jamaica).", "Viliuisk encephalomyelitis (VE), a progressive neurological disorder with a fatal outcome usually in several months to 6 yrs after disease onset, is seen only among the Iakut people of Siberia.", "Transmission to unrelated persons was documented in a densely populated region around the city of Yakutsk in which Viliuisk encephalomyelitis had not been previously known.", "Initially identified in a small Yakut-Evenk population on the Viliui River of eastern Siberia, the disease subsequently spread through human contacts to new geographic areas, thus characterizing Viliuisk encephalomyelitis as an emerging infectious disease..", "Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia.", "Viliuisk encephalomyelitis in the Iakut people of Siberia.", "Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7848104", "http://www.ncbi.nlm.nih.gov/pubmed/20010208", "http://www.ncbi.nlm.nih.gov/pubmed/19618339", "http://www.ncbi.nlm.nih.gov/pubmed/1393513", "http://www.ncbi.nlm.nih.gov/pubmed/15182325", "http://www.ncbi.nlm.nih.gov/pubmed/18379734", "http://www.ncbi.nlm.nih.gov/pubmed/9223130", "http://www.ncbi.nlm.nih.gov/pubmed/24586232", "http://www.ncbi.nlm.nih.gov/pubmed/18252102", "http://www.ncbi.nlm.nih.gov/pubmed/2894813" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:640", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004679" ]

[ "Septins are an evolutionarily conserved family of GTP-binding proteins. They are involved in diverse processes including cytokinesis, apoptosis, infection, neurodegeneration and neoplasia. In yeast, septins assemble into a highly ordered array of filaments at the mother bud neck in Saccharomyces cerevisiae cells. Septins have been implicated in a diverse range of cancers, including gastric cancer, but the underlying mechanisms remain unclear.", "Septins are an evolutionarily conserved family of GTP-binding proteins. discover that septins, a component of the cytoskeleton, recognize membrane curvature at the micron scale, a common morphological hallmark of eukaryotic cellular processes. eptins are a family of cytoskeletal GTP-binding proteins that assemble into membrane-associated hetero-oligomers and organize scaffolds for recruitment of cytosolic proteins or stabilization of membrane proteins. " ]

[]

[ "discover that septins, a component of the cytoskeleton, recognize membrane curvature at the micron scale, a common morphological hallmark of eukaryotic cellular processes.", "Septins are an evolutionarily conserved family of GTP-binding proteins. They are involved in diverse processes including cytokinesis, apoptosis, infection, neurodegeneration and neoplasia. ", "eptins are a family of cytoskeletal GTP-binding proteins that assemble into membrane-associated hetero-oligomers and organize scaffolds for recruitment of cytosolic proteins or stabilization of membrane proteins. Septins have been implicated in a diverse range of cancers, including gastric cancer, but the underlying mechanisms remain unclear. ", "nidulans septins contain the highly conserved GTP binding and coiled-coil domains seen in other septins.", "The septins: roles in cytokinesis and other processes.", "The septins are a novel family of proteins that were first recognized in yeast as proteins associated with the neck filaments.", "Septin9 is involved in septin filament formation and cellular stability.", "Here, we review these findings and discuss emerging mechanisms by which septins promote cell asymmetry in fungi and animals.<CopyrightInformation>© 2011 John Wiley & Sons A/S.</C", "These observations together with conserved sequence motifs identify the septins as members of the GTPase superfamily.", "BACKGROUND: Septins belong to the GTPase superclass of proteins and have been functionally implicated in cytokinesis and the maintenance of cellular morphology.", "Septins are important components of the cytoskeleton that are highly conserved in eukaryotes and play major roles in cytokinesis, patterning, and many developmental processes.", "The septins also appear to be involved in various other aspects of the organization of the cell surface.", "Septins are a family of eukaryotic GTP binding proteins conserved from yeasts to humans.", "Septins are a highly conserved family of GTP-binding proteins involved in multiple cellular functions, including cell division and morphogenesis.", "Septin proteins are conserved structural proteins that often demarcate regions of cell division.", "Septins are GTP-binding proteins that form filaments and higher-order structures on the cell cortex of eukaryotic cells and associate with actin and microtubule cytoskeletal networks.", "Septins are guanosine-5'-triphosphate-binding proteins involved in wide-ranging cellular processes including cytokinesis, vesicle trafficking, membrane remodelling and scaffolds, and with diverse binding partners", "Septins are a group of GTP-binding proteins that can organize into heteromeric complexes and then into large filaments. ", "Septins are a conserved family of GTPases that regulate important cellular processes such as cell wall integrity, and septation in fungi.", "Septins are a cytosolic GTP-binding protein family first characterized in yeast, but gaining increasing recognition as critical protagonists in higher eukaryotic cellular events. Mammalian septins have been associated with cytokinesis and exocytosis, along with contributing to the development of neurological disorder", "Septins are a family of proteins that assemble a ring structure at the mother-daughter neck during vegetative growth, where they control cytokinesis. ", "Septins are a class of GTP-binding proteins conserved throughout many eukaryotes. Individual septin subunits associate with one another and assemble into heteromeric complexes that form filaments and higher-order structures in vivo. ", "The septins are a conserved family of GTP-binding, filament-forming proteins. I", "The septins are filament-forming, GTP-binding proteins that are conserved from yeast to humans. Septins assemble into higher-order structures such as rings, bars, and gauzes with diverse functions including serving as membrane diffusion barriers and scaffolds for cell signaling. ", "Septins are a family of 14 cytoskeletal proteins that dynamically form hetero-oligomers and organize membrane microdomains for protein complexes", "Septins are highly conserved and essential eukaryotic cytoskeletal proteins that interact with the inner plasma membrane. They are involved in essential functions requiring cell membrane remodeling and compartmentalization, such as cell division and dendrite morphogenesis, and have been implicated in numerous diseases", "Septins are conserved GTP-binding proteins that assemble into heteromeric complexes that form filaments and higher-order structures in cells.", " Septins are members of a conserved family of GTPases found in organisms as diverse as budding yeast and mammal", "Septins are a family of conserved proteins that are essential for cytokinesis in a wide range of organisms including fungi, Drosophila and mammals. ", "The human genome codes for 13 members of a family of filament-forming GTP-binding proteins known as septins.", "Septins are evolutionary conserved cytoskeletal GTPases forming heteropolymer complexes involved in cytokinesis and other cellular processes", "Septins comprise a conserved family of GTPases important in cytokinesis.", "Septins are a highly conserved family of GTP-binding cytoskeletal proteins implicated in multiple cellular functions, including membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and oncogenesis" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8636235", "http://www.ncbi.nlm.nih.gov/pubmed/18586950", "http://www.ncbi.nlm.nih.gov/pubmed/11238387", "http://www.ncbi.nlm.nih.gov/pubmed/22815479", "http://www.ncbi.nlm.nih.gov/pubmed/18541672", "http://www.ncbi.nlm.nih.gov/pubmed/23204191", "http://www.ncbi.nlm.nih.gov/pubmed/8791410", "http://www.ncbi.nlm.nih.gov/pubmed/27473901", "http://www.ncbi.nlm.nih.gov/pubmed/17922164", "http://www.ncbi.nlm.nih.gov/pubmed/24367716", "http://www.ncbi.nlm.nih.gov/pubmed/27048593", "http://www.ncbi.nlm.nih.gov/pubmed/27044893", "http://www.ncbi.nlm.nih.gov/pubmed/24664283", "http://www.ncbi.nlm.nih.gov/pubmed/22767579", "http://www.ncbi.nlm.nih.gov/pubmed/20517926", "http://www.ncbi.nlm.nih.gov/pubmed/26700173", "http://www.ncbi.nlm.nih.gov/pubmed/21824004", "http://www.ncbi.nlm.nih.gov/pubmed/26780475", "http://www.ncbi.nlm.nih.gov/pubmed/15214843", "http://www.ncbi.nlm.nih.gov/pubmed/14517318", "http://www.ncbi.nlm.nih.gov/pubmed/20885997", "http://www.ncbi.nlm.nih.gov/pubmed/10607590", "http://www.ncbi.nlm.nih.gov/pubmed/21082023", "http://www.ncbi.nlm.nih.gov/pubmed/21883761", "http://www.ncbi.nlm.nih.gov/pubmed/25217462", "http://www.ncbi.nlm.nih.gov/pubmed/18826657", "http://www.ncbi.nlm.nih.gov/pubmed/25575596", "http://www.ncbi.nlm.nih.gov/pubmed/25957401" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058112" ]

[ " These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.", " these results suggest that loxl2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from gs-607601.", "Simtuzumab is a humanized monoclonal antibody drug that targets LOXL2" ]

[ "LOXL2" ]

[ " These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.", "These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601", "These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.", "Other potential agents will be silent information regulator protein Sirtuin and antifibrotic monoclonal antibody Simtuzumab against lysyl oxidase like molecule 2.", "These results suggest that LOXL2 could be an appealing target for treatment of scar formation after glaucoma surgery, and point to the potential therapeutic benefits of simtuzumab, a humanized monoclonal antibody derived from GS-607601.", " aim of this study was to study the safety and tolerability of simtuzumab, a monoclonal antibody directed against lysyl oxidase-like 2 (LOXL2) enzyme, i" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23821193", "http://www.ncbi.nlm.nih.gov/pubmed/27939076", "http://www.ncbi.nlm.nih.gov/pubmed/26085906", "http://www.ncbi.nlm.nih.gov/pubmed/27232579" ]

[]

[]

[ "Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. It is likely that Dravet syndrome is underdiagnosed in adults with treatment-resistant epilepsy.", "dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality.", "Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. The typical presentation is characterized by hemiclonic or generalized clonic seizures triggered by fever during the first year of life, followed by myoclonic, absence, focal and generalized tonic-clonic seizures.", "Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality.", "Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and is associated with high morbidity and mortality. The typical presentation is characterized by hemiclonic or generalized clonic seizures triggered by fever during the first year of life, followed by myoclonic, absence, focal and generalized tonic-clonic seizures." ]

[ "A severe epilepsy of chidhood" ]

[ "Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. The typical presentation is characterized by hemiclonic or generalized clonic seizures triggered by fever during the first year of life, followed by myoclonic, absence, focal and generalized tonic-clonic seizures.", "BACKGROUND: Dravet syndrome is a severe form of epilepsy.", "Dravet syndrome, a severe infantile epilepsy syndrome, is typically resistant to anti-epileptic drugs (AED).", "Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions.", "Dravet syndrome is an epileptic encephalopathy characterized by multiple types of seizures.", "Haploinsufficiency of the voltage-gated sodium channel Nav1.1 causes Dravet syndrome, an intractable childhood-onset epilepsy with hyperactivity, cognitive deficit, autistic-like behaviours, and premature death", "Thus, the multi-faceted phenotypes of Dravet syndrome can be genetically dissected, revealing synergy in causing epilepsy, premature death and deficits in long-term spatial memory, but interneuron-specific effects on hyperactivity and autistic-like behaviours", "Dravet syndrome, or as it was called in the past severe myoclonic epilepsy in infancy, is a drug-resistant epilepsy first described by Charlotte Dravet in 1978", "Dravet syndrome is a severe form of epilepsy.", "Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for whose treatment stiripentol (STP) has been recently licensed for add-on use.To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) as therapy for patients with SMEI.We searched the Cochrane Epilepsy Group Specialised Register (15 May 2013), the Cochrane Central Register of Controlled Trials (CENTRAL, Issue 4 of 12, The Cochrane Library, April 2013), MEDLINE (1", "Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A.", "Dravet syndrome is a rare form of epilepsy largely refractory to current antiepileptic medications. ", "Dravet syndrome is a rare epileptic encephalopathy characterized by treatment-resistant polymorphic seizures. ", "Dravet syndrome is a severe form of epileptic encephalopathy characterized by early onset epileptic seizures followed by ataxia and cognitive decline.", "Dravet syndrome is a severe form of intractable pediatric epilepsy with a high incidence of SUDEP: Sudden Unexpected Death in epilepsy. ", "Dravet syndrome or severe myoclonic epilepsy of infancy (SMEI) is a baleful epileptic encephalopathy that begins in the first year of life. ", "Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome", "Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life.", "Dravet syndrome is an epileptic syndrome of infancy and early childhood.", "Dravet syndrome is an epileptic syndrome of infancy.", "patients with severe myoclonic epilepsy of infancy (Dravet's syndrome)", "Dravet syndrome is a severe infantile epileptic encephalopathy caused in approximately 80% of cases by mutations in the voltage gated sodium channel subunit gene SCN1A" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19203856", "http://www.ncbi.nlm.nih.gov/pubmed/26995069", "http://www.ncbi.nlm.nih.gov/pubmed/19589774", "http://www.ncbi.nlm.nih.gov/pubmed/20184819", "http://www.ncbi.nlm.nih.gov/pubmed/21504428", "http://www.ncbi.nlm.nih.gov/pubmed/25778844", "http://www.ncbi.nlm.nih.gov/pubmed/12503502", "http://www.ncbi.nlm.nih.gov/pubmed/21719429", "http://www.ncbi.nlm.nih.gov/pubmed/25666511", "http://www.ncbi.nlm.nih.gov/pubmed/22104018", "http://www.ncbi.nlm.nih.gov/pubmed/24254932", "http://www.ncbi.nlm.nih.gov/pubmed/26017580", "http://www.ncbi.nlm.nih.gov/pubmed/25243660", "http://www.ncbi.nlm.nih.gov/pubmed/23762420", "http://www.ncbi.nlm.nih.gov/pubmed/23517304", "http://www.ncbi.nlm.nih.gov/pubmed/24665294", "http://www.ncbi.nlm.nih.gov/pubmed/20184820", "http://www.ncbi.nlm.nih.gov/pubmed/22848613", "http://www.ncbi.nlm.nih.gov/pubmed/27264139" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004831", "http://www.disease-ontology.org/api/metadata/DOID:0060171" ]

[ "Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells. Telomerase enables tumor cells to maintain telomere length, allowing indefinite replicative capacity.", "Telomerase, a ribonucleoprotein enzyme is considered as a universal therapeutic target of cancer because of its preferential expression in cancer cells and its presence in 90 % of tumors. Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells.", " telomerase, a ribonucleoprotein enzyme is considered as a universal therapeutic target of cancer because of its preferential expression in cancer cells and its presence in 90 % of tumors.", "Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells. Telomerase enables tumor cells to maintain telomere length, allowing indefinite replicative capacity. telomerase is believed to be necessary for cancer cells to grow without limit", " Telomerase, a ribonucleoprotein enzyme is considered as a universal therapeutic target of cancer because of its preferential expression in cancer cells and its presence in 90 % of tumors. " ]

[]

[ "Human telomerase is absent in most normal tissues, but is abnormally activated in all major cancer cells. Telomerase enables tumor cells to maintain telomere length, allowing indefinite replicative capacity.", "telomerase is believed to be necessary for cancer cells to grow without limit", " Telomerase, a ribonucleoprotein enzyme is considered as a universal therapeutic target of cancer because of its preferential expression in cancer cells and its presence in 90 % of tumors. ", "Interestingly, almost 100 % of adenocarcinoma, including breast cancer cells, expresses telomerase which makes it a good target for telomerase-related therapy.", "The observation that the enzyme telomerase is up-regulated in 80-90% of cancer cells isolated from primary human tumors but is absent in neighboring cells of healthy tissue has resulted in significant efforts to validate telomerase as an anticancer drug target and to develop effective approaches toward its inhibition.", "Telomerase plays an important role in cell proliferation and carcinogenesis and is believed to be a good target for anti-cancer drugs.", "In contrast to cancer cells, most normal human cells have no or low telomerase levels which makes it an attractive target for anti-cancer drugs.", "Telomerase activity is repressed in normal human somatic cells, but is activated in most cancers, suggesting that telomerase may be an important target for cancer therapy.", "Telomerase is expressed in more than 85% of cancer cells, making it a nearly universal cancer marker, while the majority of normal somatic cells are telomerase negative", "The activity of telomerase is highly associated with carcinogenesis which makes the enzyme an attractive biomarker in cancer diagnosis and treatment", "The human telomerase reverse transcriptase (hTERT) is expressed in more than 85% of tumor cells but is usually not found in normal cells, which makes hTERT as an ideal tumor-associate antigen (TAA) to develop potential vaccine specifically destroying cancers without impairing normal tissues in human cancer immunotherapy", "The differential expression of telomerase in cancer cells makes it an attractive therapeutic target", "The evidence that telomerase is also present in normal B cells at different levels according to their differentiation and activation state makes the study of telomerase activity in B cell tumors particularly interesting", "Telomerase is up-regulated in the majority of cancer cells and is essential for their survival, making it a potential anti-cancer drug target. ", "In contrast to cancer cells, most normal human cells have no or low telomerase levels which makes it an attractive target for anti-cancer drugs. ", "As normal cells have a considerable telomere reserve, even in elderly humans, this makes telomerase an attractive and potentially selective anti-cancer drug target.", "The expression of telomerase in approximately 85% of cancers and its absence in the majority of normal cells makes it an attractive target for cancer therapy.", "Moreover, since telomerase is not or slightly expressed in normal cells, it has been postulated that drugs targeting telomerase would induce low toxicity.", "Telomerase is expressed in most cancer cells, but not in normal somatic cells, suggesting that telomerase is an attractive target for cancer chemotherapy", "elomerase, a special reverse transcriptase, has been recognized as a common factor in most tumor cells, and in turn a distinctive characteristic with respect to non-malignant cells", "Telomerase is detected in the majority of prostate cancers, but not in normal or benign prostatic hyperplasia tissue.", "The catalytic component of telomerase in humans, hTERT, is upregulated in nearly 90% of all cancers, making it the most widely expressed marker of malignancy. With the exception of germ cells and stem cells, hTERT is undetectable in somatic human tissues.", "he notion that telomerase is reactivated in 80-90% of human cancers has led to the proposal of telomerase as a promising therapeutic target for novel anticancer interventions" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12678727", "http://www.ncbi.nlm.nih.gov/pubmed/23558965", "http://www.ncbi.nlm.nih.gov/pubmed/25550449", "http://www.ncbi.nlm.nih.gov/pubmed/24053596", "http://www.ncbi.nlm.nih.gov/pubmed/21208462", "http://www.ncbi.nlm.nih.gov/pubmed/18763067", "http://www.ncbi.nlm.nih.gov/pubmed/16112419", "http://www.ncbi.nlm.nih.gov/pubmed/14594517", "http://www.ncbi.nlm.nih.gov/pubmed/12689331", "http://www.ncbi.nlm.nih.gov/pubmed/27118336", "http://www.ncbi.nlm.nih.gov/pubmed/22044621", "http://www.ncbi.nlm.nih.gov/pubmed/24109558", "http://www.ncbi.nlm.nih.gov/pubmed/16549043", "http://www.ncbi.nlm.nih.gov/pubmed/26771897", "http://www.ncbi.nlm.nih.gov/pubmed/21802433", "http://www.ncbi.nlm.nih.gov/pubmed/25744732", "http://www.ncbi.nlm.nih.gov/pubmed/25256442", "http://www.ncbi.nlm.nih.gov/pubmed/11342355", "http://www.ncbi.nlm.nih.gov/pubmed/10857992", "http://www.ncbi.nlm.nih.gov/pubmed/26742579", "http://www.ncbi.nlm.nih.gov/pubmed/12750550", "http://www.ncbi.nlm.nih.gov/pubmed/27657809", "http://www.ncbi.nlm.nih.gov/pubmed/14649329" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019098", "http://www.biosemantics.org/jochem#4221288" ]

[ "DENdb is a centralized on-line repository of predicted enhancers derived from multiple human cell-lines. DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines. DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes. DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information." ]

[]

[ "DENdb: database of integrated human enhancers", "We developed DENdb, a centralized on-line repository of predicted enhancers derived from multiple human cell-lines. DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines. DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes. DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information. ", "DENdb: database of integrated human enhancers.", "We developed DENdb, a centralized on-line repository of predicted enhancers derived from multiple human cell-lines.", "DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information.", "DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines.", "DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes.", "We developed DENdb, a centralized on-line repository of predicted enhancers derived from multiple human cell-lines", "DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines", "DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes", "DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information", "Database URL: http://www.cbrc.kaust.edu.sa/dendb/.<CopyrightInformation>© The Author(s) 2015", "DENdb: database of integrated human enhancers.", "Database URL: http://www.cbrc.kaust.edu.sa/dendb/..", "We developed DENdb, a centralized on-line repository of predicted enhancers derived from multiple human cell-lines.", "DENdb is designed as a relational database that facilitates fast and efficient searching, browsing and visualization of information.", "DENdb integrates enhancers predicted by five different methods generating an enriched catalogue of putative enhancers for each of the analysed cell-lines.", "DENdb provides information about the overlap of enhancers with DNase I hypersensitive regions, ChIP-seq regions of a number of transcription factors and transcription factor binding motifs, means to explore enhancer interactions with DNA using several chromatin interaction assays and enhancer neighbouring genes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26342387" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D030561" ]

[ "Tokuhashi, Tomita, Bauer, and Oswestry scores are used for survival prediction of patients with spinal metastases." ]

[ "Tokuhashi", "Tomita", "Bauer", "Oswestry" ]

[ "METHODS: Outcomes of surgery, prognostic factors for survival, and relevance of Tomita and Tokuhashi scores were investigated.", "PURPOSE: To assess variability in the use of Tomita and modified Bauer scores in spine metastases.", "Only the Tomita scoring system was shown to be an independent prognostic factor for overall survival. ", ".CONCLUSION: The Tomita scoring system represents a practicable and highly predictive prognostic tool. ", "Analysis of the predictive role and new proposal for surgical strategies based on the modified Tomita and Tokuhashi scoring systems for spinal metastasis.", "We also aimed to evaluate the validity of the prognostic scores in the Tomita and Tokuhashi systems and discuss several aspects to improve the predictive accuracy of these systems. ", "CONCLUSIONS: Tomita scores more accurately predicted survival than Tokuhashi scores. ", "A comparison of the modified Tokuhashi and Tomita scores in determining prognosis for patients afflicted with spinal metastasis.", " It is for this reason that scoring systems, such as the modified Tokuhashi and Tomita scores, have been created", "The modified Tokuhashi score had better accuracy in determining actual survival.", "Tokuhashi, Tomita, Bauer, and Oswestry scores have been devised for survival prediction; however, none of these systems have been evaluated in nasopharyngeal carcinoma (NPC).", "All four scoring systems could be used to prognosticate these patients. The modified Tokuhashi score is the best in doing so.", "Primary tumor type and Tokuhashi score independently predicted survival in patients with spinal metastases.", " Primary tumor type and Tokuhashi scoring independently predicted survival in patients with spinal metastases after surgery.", "A predictive score was then developed and compared against that of the modified Bauer score alone in terms of prognosticating 1-year survival after surgery.", "Our predictive score performed better than the modified Bauer alone and may be used to predict survival after surgical intervention for metastatic disease.", "Tokuhashi Scoring System has limited applicability in the majority of patients with spinal cord compression secondary to vertebral metastasis.", "Tokuhashi Scoring System has limited applicability in the majority of patients with spinal cord compression secondary to vertebral metastasis", "Tokuhashi, Tomita, Bauer, and Oswestry scores have been devised for survival prediction; however, none of these systems have been evaluated in nasopharyngeal carcinoma (NPC).To investigate the accuracy of these scoring systems in predicting survival and to identify prognostic factors for survival of the patients with spinal metastases from NPC.Retrospective analysis of the patients with spinal metastases from NPC who were treated in our institution.The study included 87 patients with spinal metastases from NPC.The primary outcome measure was the survival time of these patients", "Predictive value of survival by modified Tokuhashi score was the highest among all four scoring systems.Patients with spinal metastases from NPC have relatively good survival prognosis", "The data of the present study emphasize that the original Bauer score and a modified Bauer score without scoring for pathologic fracture seem to be practicable and highly predictive preoperative scoring systems for patients with spinal metastases", "A retrospective study of 180 patients with lung cancer spinal metastases, wherein prognostic score-predicted survival was compared with actual survival.To evaluate and compare the accuracy of prognostic scoring systems in lung cancer spinal metastases.The modified Tokuhashi, Tomita, modified Bauer, and Oswestry scores are currently used to guide decisions regarding operative treatment of patients with spinal metastases.", "To evaluate the predictive values of Tokuhashi score, revised Tokuhashi score and Tomita score systems for life expectancy and treatment options in patients with spinal metastasis.", "A comparison of the modified Tokuhashi and Tomita scores in determining prognosis for patients afflicted with spinal metastasis.", "The combination of Tokuhashi score and Tomita score may be applied to better predict postoperative survival prognosis and guide the surgical options for patients with spinal metastasis..", "reported a composite model taking into account a modified Bauer score, preoperative albumin, and ambulatory status of patients with spinal metastasis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24212518", "http://www.ncbi.nlm.nih.gov/pubmed/23179121", "http://www.ncbi.nlm.nih.gov/pubmed/24120144", "http://www.ncbi.nlm.nih.gov/pubmed/26713145", "http://www.ncbi.nlm.nih.gov/pubmed/26160329", "http://www.ncbi.nlm.nih.gov/pubmed/24912121", "http://www.ncbi.nlm.nih.gov/pubmed/21223698", "http://www.ncbi.nlm.nih.gov/pubmed/27584676", "http://www.ncbi.nlm.nih.gov/pubmed/27080411", "http://www.ncbi.nlm.nih.gov/pubmed/24869611", "http://www.ncbi.nlm.nih.gov/pubmed/18787846", "http://www.ncbi.nlm.nih.gov/pubmed/26602195", "http://www.ncbi.nlm.nih.gov/pubmed/27018903", "http://www.ncbi.nlm.nih.gov/pubmed/25869337", "http://www.ncbi.nlm.nih.gov/pubmed/25085251" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009362" ]

[ "No, NADPH oxidase 5 (NOX5) does not require any subunits for function." ]

[ "no" ]

[ "Nox5 forms a functional oligomer mediated by self-association of its dehydrogenase domain.", " While Nox1-4 require regulatory subunits, including p22phox, Nox5 activity does not depend on any subunits. ", " Thus, Nox5 forms a catalytically active oligomer in the membrane that is mediated by its dehydrogenase domain. ", "Coexpression of specific Nox catalytic subunits (Nox1, Nox2, Nox3, Nox4, or Nox5) along with their corresponding regulatory subunits (NOXO1/NOXA1 for Nox1; p47phox/p67phox/Rac for Nox2; NOXO1 for Nox3; no subunits for Nox4 or Nox5) resulted in marked production of reactive oxygen. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21319793", "http://www.ncbi.nlm.nih.gov/pubmed/15994299" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:0016175", "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://amigo.geneontology.org/amigo/term/GO:0016174", "http://www.biosemantics.org/jochem#4270191", "http://www.uniprot.org/uniprot/NOX5_HUMAN" ]

[ "The side effects during statins administration in patients with atherosclerosis are:\n1) Myopathy\n2) Transaminase elevations\n3) Diabetes mellitus \n4) Renal and neurologic adverse effects." ]

[ "Myopathy", "Transaminase elevations", "Diabetes mellitus", "Renal adverse effects", "Neurologic adverse effects" ]

[ "A history of side effects was reported by 40 (19.5%) of the patients, and mainly consisted of muscle complaints and gastrointestinal symptoms. ", "Treatment Options for Statin-Associated Muscle Symptoms.", "Muscle symptoms are a clinically relevant side effect of statin treatment.", "At least 5% of patients taking statins have statin-associated muscle symptoms (SAMS). ", "Muscle problems and other adverse symptoms associated with statin use are frequent reasons for non-adherence and discontinuation of statin therapy, which results in inadequate control of hyperlipidemia and increased cardiovascular risk. ", "It was estimated that rosuvastatin-associated absolute hazards of muscle-, liver- and renal-related adverse effects are lower than the corresponding vascular benefits in moderate vascular risk individuals. ", "Rosuvastatin-induced proteinuria appears to be of tubular origin, not relating to kidney injury. Rosuvastatin increases the risk of new-onset diabetes by dose-dependently impairing insulin sensitivity. ", "Statins are associated with myopathy, transaminase elevations, and an increased risk of incident diabetes mellitus among some patients; connections between statins and other processes, such as renal and neurologic function, have also been studied with mixed results. ", "Muscle symptoms are a clinically relevant side effect of statin treatment.This review is based on pertinent publications retrieved by a selective literature search, and on the current recommendations of the European Atherosclerosis Society.At least 5% of patients taking statins have statin-associated muscle symptoms (SAMS).", "Nevertheless, patients may develop side effects such as muscle pain and weakness years after starting statin therapy; however, the absolute number of patients affected by statin myopathy increases with treatment duration.", "Better understanding of the molecular mechanisms involved in statin-induced myopathy may help identify patient groups susceptible to statins' side effects, thereby increasing their safety.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25678839", "http://www.ncbi.nlm.nih.gov/pubmed/24840269", "http://www.ncbi.nlm.nih.gov/pubmed/21796961", "http://www.ncbi.nlm.nih.gov/pubmed/21267417", "http://www.ncbi.nlm.nih.gov/pubmed/12891851", "http://www.ncbi.nlm.nih.gov/pubmed/27878791", "http://www.ncbi.nlm.nih.gov/pubmed/17042673", "http://www.ncbi.nlm.nih.gov/pubmed/24788803", "http://www.ncbi.nlm.nih.gov/pubmed/25644328", "http://www.ncbi.nlm.nih.gov/pubmed/19039148", "http://www.ncbi.nlm.nih.gov/pubmed/26490078", "http://www.ncbi.nlm.nih.gov/pubmed/26575138", "http://www.ncbi.nlm.nih.gov/pubmed/24601937", "http://www.ncbi.nlm.nih.gov/pubmed/25936326", "http://www.ncbi.nlm.nih.gov/pubmed/18585718", "http://www.ncbi.nlm.nih.gov/pubmed/22913216", "http://www.ncbi.nlm.nih.gov/pubmed/23299641", "http://www.ncbi.nlm.nih.gov/pubmed/21972203" ]

[]

[]

[ "Entresto is composed of sacubitril and valsartan. It is newly FDA-approved medication that dually inhibits angiotensin and neprilysin, in the treatment of heart failure." ]

[ "sacubitril", "valsartan" ]

[ "The PARADIGM-HF study, a large outcome trial in heart failure and reduced ejection fraction (HFrEF), has recently shown improved cardiovascular outcomes with sacubitril/valsartan (Entresto®, Novartis), still commonly referred to as LCZ696, compared to ACE-inhibitor therapy, possibly leading us to a new era for heart failure (HF) treatment. ", "This article reviews the background, current knowledge and data supporting the use of sacubitril/valsartan (Entresto(®) ), the newly FDA-approved medication that dually inhibits angiotensin and neprilysin, in the treatment of heart failure.", "▼ Sacubitril valsartan (Entresto-Novartis) is a new oral drug licensed for the treatment of symptomatic chronic heart failure in adults with reduced ejection fraction.", "Rhabdomyolysis After Coadministration of Atorvastatin and Sacubitril/Valsartan (Entresto™) in a 63-Year-Old Woman.", "A 63-year-old woman previously stable on a regimen of atorvastatin 40 mg daily, carvedilol 25 mg twice daily, digoxin 0.125 mg daily, furosemide 40 mg daily, spironolactone 25 mg daily, rivaroxaban 15 mg daily, and enalapril 20 mg twice daily for heart failure developed rhabdomyolysis 26 days after enalapril was stopped and sacubitril/valsartan (Entresto™) started.", "Sacubitril/valsartan [LCZ696 (Entresto), Novartis Pharmaceuticals Corp.] is the first in a new class of drugs that combines neprilysin inhibition with angiotensin II receptor antagonism, the combination of which acts to increase endogenous natriuretic peptides while inhibiting the renin-angiotensin-aldosterone system.", "In July 2015, the US Food and Drug Administration approved the first of a new class of drugs for the treatment of heart failure: Valsartan/sacubitril (formerly known as LCZ696 and currently marketed by Novartis as Entresto) combines the angiotensin receptor blocker valsartan and the neprilysin inhibitor prodrug sacubitril in a 1:1 ratio in a sodium supramolecular complex.", "Sacubitril/valsartan (Entresto) for chronic heart failure; brexpiprazole (Rexulti) for major depressive disorder and schizophrenia; and lumacaftor/ivacaftor (Orkambi) for cystic fibrosis involving specific CFTR mutations.", "Sacubritil∗valsartan (Entresto, Novartis, still commonly referred to as LCZ696) is a combination drug described as a new class of dual-acting angiotensin receptor-neprilysin inhibitor (ARNi).", "The molecular combination of sacubitril and valsartan (Entresto) is a new drug for reducing the risk of cardiovascular death and hospitalization for heart failure in patients with chronic heart failure (NYHA Class II-IV) and reduced ejection fraction.", "▼ Sacubitril valsartan (Entresto-Novartis) is a new oral drug licensed for the treatment of symptomatic chronic heart failure in adults with reduced ejection fraction.(1) It is described as an angiotensin receptor neprilysin inhibitor and contains the neprilysin inhibitor, sacubitril and the angiotensin II receptor antagonist, valsartan.(1-3) Here, we review the evidence for sacubitril valsartan and consider its place in the management of heart failure." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27697814", "http://www.ncbi.nlm.nih.gov/pubmed/26642078", "http://www.ncbi.nlm.nih.gov/pubmed/26976916", "http://www.ncbi.nlm.nih.gov/pubmed/27284124", "http://www.ncbi.nlm.nih.gov/pubmed/26417173", "http://www.ncbi.nlm.nih.gov/pubmed/26992459", "http://www.ncbi.nlm.nih.gov/pubmed/26975167", "http://www.ncbi.nlm.nih.gov/pubmed/26466333", "http://www.ncbi.nlm.nih.gov/pubmed/27378659", "http://www.ncbi.nlm.nih.gov/pubmed/27804100", "http://www.ncbi.nlm.nih.gov/pubmed/26873495" ]

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[ "doRina is a database of RNA interactions in post-transcriptional regulation." ]

[]

[ "doRiNA: a database of RNA interactions in post-transcriptional regulation.", " We provide a database that supports the quest for deciphering this regulatory code. Within doRiNA, we are systematically curating, storing and integrating binding site data for RBPs and miRNAs. Users are free to take a target (mRNA) or regulator (RBP and/or miRNA) centric view on the data. We have implemented a database framework with short query response times for complex searches (e.g. asking for all targets of a particular combination of regulators). All search results can be browsed, inspected and analyzed in conjunction with a huge selection of other genome-wide data, because our database is directly linked to a local copy of the UCSC genome browser. At the time of writing, doRiNA encompasses RBP data for the human, mouse and worm genomes. For computational miRNA target site predictions, we provide an update of PicTar predictions.", "DoRiNA 2.0--upgrading the doRiNA database of RNA interactions in post-transcriptional regulation.", "At the time of writing, doRiNA encompasses RBP data for the human, mouse and worm genomes.", "Within doRiNA, we are systematically curating, storing and integrating binding site data for RBPs and miRNAs.", "doRiNA: a database of RNA interactions in post-transcriptional regulation", "Within doRiNA, we are systematically curating, storing and integrating binding site data for RBPs and miRNAs", "At the time of writing, doRiNA encompasses RBP data for the human, mouse and worm genomes", "Within doRiNA, we are systematically curating, storing and integrating binding site data for RBPs and miRNAs. ", "At the time of writing, doRiNA encompasses RBP data for the human, mouse and worm genomes. ", "Within doRiNA, we are systematically curating, storing and integrating binding site data for RBPs and miRNAs.", "At the time of writing, doRiNA encompasses RBP data for the human, mouse and worm genomes.", "DoRiNA 2.0--upgrading the doRiNA database of RNA interactions in post-transcriptional regulation.", "doRiNA: a database of RNA interactions in post-transcriptional regulation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25416797", "http://www.ncbi.nlm.nih.gov/pubmed/22086949" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D030561", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012323" ]

[ "Yes, NSD-1015 is an ihnibitor of Aromatic L-Amino Decarboxylase." ]

[ "yes" ]

[ "When pretreated with a central AADC inhibitor (NSD-1015), further application of l-dopa failed to increase the motoneuron activity although the expression of DA in the AADC cells was not completely inhibited. ", "Inhibition of Ddc by AADC inhibitor NSD-1015 or anti-sense morpholino oligonucleotides (MO) reduced brain volume and body length. ", "We evaluated this in vivo by reverse dialysis of the aromatic-l-amino-acid decarboxylase (EC 4.1.1.28) inhibitor NSD-1015 (20μM) and selected concentrations of l- or d-tyrosine. ", "Neurochemical study of effects of the new anxiolytic drugs afobazol and ladasten on the synthesis and metabolism of monoamines and their metabolites in the brain structures of Wistar rat on the model of monoamine synthesis blockade induced by aromatic amino acid decarboxylase inhibitor NSD-1015", "To establish the neurotransmitter role(s) of L-3,4-dihydroxyphenylalanine (DOPA) in its own right, we attempted to clarify whether i.p. injection of a DOPA antagonist, DOPA cyclohexyl ester (CHE), would antagonize the behavioral responses of conscious rats to DOPA in the presence of 3-hydroxybenzylhydrazine (NSD-1015) (100 mg/kg i.p.), a central aromatic L-amino acid decarboxylase (AADC) inhibitor.", "TH and TPH activities were determined in tissue extracts by measuring the accumulation of L-Dopa and 5-HTP respectively, following the administration of the aromatic L-amino acid decarboxylase inhibitor, NSD-1015. ", "Results of a neurochemical study of the effects of the new anxiolytic drugs afobazole and ladasten on the synthesis and metabolism of monoamines and their metabolites determined by HPLC on the model of monoamine synthesis blockade induced by NSD-1015 (aromatic L-amino acid decarboxylase) in the brain structures of Wistar rats are reported. ", ". When pretreated with a central AADC inhibitor (NSD-1015)", "NSD 1015 (general AADC inhibitor)", "monoamine synthesis blockade induced by NSD-1015 (aromatic L-amino acid decarboxylase) ", "the aromatic-l-amino-acid decarboxylase (EC 4.1.1.28) inhibitor NSD-1015", "An accumulation of L-dihydroxyphenylalanine (DOPA) in the median eminence of female rats treated with 3-hydroxybenzylhydrazine (NSD 1015), and inhibitor of aromatic L-amino acid decarboxylase (DOPA decarboxylase) activity, was associated with a decreased concentration of dopamine in the median eminence and pronounced reduction in the release of dopamine into hypophysial portal blood.", "6S-BH4 increased extracellular DOPA levels in the presence of NSD 1015, an inhibitor of aromatic L-amino acid decarboxylase (an index of in vivo tyrosine hydroxylase activity), to an extent similar to the increase induced by 6R-BH4.", "5-HT synthesis was estimated by measuring the accumulation of the 5-HT precursor, 5-hydroxytryptophan (5-HTP), in the neurointermediate lobe of male Long-Evans rats following the administration of NSD 1015, an inhibitor of aromatic L-amino acid decarboxylase.", "Monoamine synthesis was studied in different parts of the brain by measuring the accumulated dopa and 5-hydroxytryptophan (5-HTP), 30 min after NSD 1015 (3-hydroxybenzylhydrazine HCl, 100 mg/kg) an inhibitor of aromatic L-amino-acid decarboxylase, given i.p.", "HPLC coupled with electrochemical detection was used to make concurrent measurements of the rate of accumulation of 5-hydroxytryptophan and 3,4-dihydroxyphenylalanine in selected brain regions (striatum, nucleus accumbens, septum, medial periventricular hypothalamus) and thoracic spinal cords of rats treated with NSD 1015, an inhibitor of aromatic-L-amino-acid decarboxylase.", "The activity of 5-hydroxytryptaminergic neurons has been estimated from measurements of: concentrations of 5-hydroxyindoleacetic acid; the ratio of the concentrations of 5-hydroxyindoleacetic acid to 5-hydroxytryptamine; the rate of accumulation of 5-hydroxytryptophan following the administration of an aromatic L-amino acid decarboxylase inhibitor (e.g., NSD 1015); the rate of accumulation of 5-hydroxytryptamine, and the rate of decline of 5-hydroxyindoleacetic acid following the administration of a monoamine oxidase inhibitor (e.g., pargyline).", "The accumulation of dopa (3,4-dihydroxyphenylalanine) after administration of NSD 1015 to inhibit aromatic l-amino acid decarboxylase was determined as an index of NE synthesis.", "The central aromatic amino acid DOPA decarboxylase inhibitor, NSD-1015, does not inhibit L-DOPA-induced circling in unilateral 6-OHDA-lesioned-rats.", "The centrally acting aromatic amino acid dopa decarboxylase (AADC) inhibitor, 3-hydroxybenzyl hydrazine (NSD-1015), is widely used to study the neurotransmitter-like actions of L-DOPA.", "The aromatic amino acid decarboxylase inhibitor, NSD-1015, increases release of dopamine: response characteristics.", "The aromatic amino acid decarboxylase inhibitor NSD 1015 markedly increased the dopa concentration.", "Using a microdialysis technique, the rat striatum was perfused with NSD-1015, an inhibitor of aromatic L-amino acid decarboxylase, and the amount of L-3,4-dihydroxyphenylalanine (L-DOPA) and 5-hydroxytryptophan (5-HTP) accumulating in dialysate was measured as an index of in vivo activities of tyrosine hydroxylase and tryptophan hydroxylase.", "Also, we studied the effect of MnCl2 on extracellular levels of l-Dopa in the presence of aromatic amino acid decarboxylase (AADC) inhibitor 3-hydroxybencilhydracine-HCl (NSD 1015).", "The role of L-DOPA itself was investigated by administering several doses of an aromatic L-amino acid decarboxylase inhibitor, NSD 1015, prior to 100 mg/kg L-DOPA to 5-day-old rats.", "An accumulation of L-dihydroxyphenylalanine (DOPA) in the median eminence of female rats treated with 3-hydroxybenzylhydrazine (NSD 1015), and inhibitor of aromatic L-amino acid decarboxylase (DOPA decarboxylase) activity, was associated with a decreased concentration of dopamine in the median eminence and pronounced reduction in the release of dopamine into hypophysial portal blood. ", "[Neurochemical study of effects of the new anxiolytic drugs afobazol and ladasten on the synthesis and metabolism of monoamines and their metabolites in the brain structures of Wistar rat on the model of monoamine synthesis blockade induced by aromatic amino acid decarboxylase inhibitor NSD-1015].", "DOPA was measured in the anterior pituitary and hypothalamic-hypophysial portal blood after treatment with NSD-1015, a DOPA decarboxylase inhibitor. ", "Central action of an inhibitor of brain dopa-decarboxylase, NSD-1015, on cyanamide-induced alcohol drinking in rats.", "The role of L-DOPA itself was investigated by administering several doses of an aromatic L-amino acid decarboxylase inhibitor, NSD 1015, prior to 100 mg/kg L-DOPA to 5-day-old rats. ", "The centrally acting aromatic amino acid dopa decarboxylase (AADC) inhibitor, 3-hydroxybenzyl hydrazine (NSD-1015), is widely used to study the neurotransmitter-like actions of L-DOPA. ", "Furthermore, the ethanol-induced enhancement of 3,4-dihydroxyphenylalanine accumulation in the mesolimbic dopamine terminal area after NSD 1015 (an inhibitor of l-aromatic amino acid decarboxylase) was completely antagonized by mecamylamine in doses (3.0 and 6.0 mg/kg) that exerted no effects per se.", "The acetylcholinesterase inhibitor physostigmine (0.5 mg/kg s.c.) enhanced L-dihydroxyphenylalanine (DOPA) and 3,4-dihydroxyphenylacetic acid (DOPAC) levels in both the corpus striatum and limbic areas (nucleus accumbens) after inhibition of aromatic amino acid decarboxylase with NSD-1015, indicating an enhanced synthesis of dopamine in these brain regions.", "Estradiol benzoate-treated rats had significantly lower anterior pituitary DOPA accumulation after intraperitoneal administration of 3,4-hydroxybenzyl-hydrazine dihydrochloride (NSD-1015), an irreversible inhibitor of L-aromatic amino acid decarboxylase whereas methylene blue did not affect anterior pituitary DOPA accumulation when compared to controls.", "The accumulation of dihydroxyphenylalanine (DOPA) following administration of the L-aromatic amino acid decarboxylase inhibitor, NSD 1015, was used to estimate DA synthesis.", "Inhibition of PE synthesis by i.p. injection of the aromatic L-amino acid decarboxylase inhibitor, NSD 1015, produced a reversal of the effects of MDL 72,145 and Ro 19-6327.", "After 42 hr of abstinence, rats were challenged with either cocaine (15 mg/kg, ip) or saline, followed by the aromatic L-amino acid decarboxylase inhibitor 3-hydroxybenzylhydrazine (NSD-1015; 100 mg/kg, ip).", "Following motor activity observations, the cerebral aromatic L-amino acid decarboxylase inhibitor NSD-1015 (100 mg kg-1 intraperitoneally) was administered and 30 min. later the animals were decapitated for subsequent analysis of the accumulated forebrain DOPA and 5-HTP levels, as an estimate of the rate of monoamine synthesis.", "The utility of this technique was demonstrated by comparing the effects on the scans of halothane and pentobarbital anesthesia and by the administration of NSD 1015, a peripheral and central inhibitor of L-aromatic amino-acid decarboxylase, between back-to-back scans.", "Addition of the aromatic amino acid decarboxylase inhibitor, 3-hydroxybenzylhydrazine (NSD 1015), prevented the formation of N-acetylcompounds from L-[3H]tyrosine, without resulting in an accumulation of label in L-DOPA.", "The effects of the peripheral aromatic amino acid decarboxylase (AADC) inhibitors, carbidopa and benserazide, and the central AADC inhibitor, 3-hydroxybenzylhydrazine (NSD-1015) on peripheral and brain monoamine oxidase (MAO) A and B activity were investigated in the rat.", "Although the putative role of NSD-1015 is as an aromatic amino acid decarboxylase inhibitor, the present results demonstrate that, either as a result of this function and/or in addition to this role, NSD-1015 is a potent activator of the release of dopamine.", "The aromatic amino acid decarboxylase inhibitor, NSD-1015, increases release of dopamine: response characteristics.", "The central aromatic amino acid DOPA decarboxylase inhibitor, NSD-1015, does not inhibit L-DOPA-induced circling in unilateral 6-OHDA-lesioned-rats.", "The L-aromatic amino acid decarboxylase inhibitor, NSD-1015 (3-hydroxybenzylhydrazine dihydrochloride) was then given ICV twice daily in a volume of 5.0 microliters in the following doses: 0.005, 0.01, 0.1 and 1.0 micrograms.", "Although the putative role of NSD-1015 is as an aromatic amino acid decarboxylase inhibitor, the present results demonstrate that, either as a result of this function and/or in addition to this role, NSD-1015 is a potent activator of the release of dopamine.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7664818", "http://www.ncbi.nlm.nih.gov/pubmed/20501080", "http://www.ncbi.nlm.nih.gov/pubmed/2320657", "http://www.ncbi.nlm.nih.gov/pubmed/323424", "http://www.ncbi.nlm.nih.gov/pubmed/6164221", "http://www.ncbi.nlm.nih.gov/pubmed/8371833", "http://www.ncbi.nlm.nih.gov/pubmed/6811255", "http://www.ncbi.nlm.nih.gov/pubmed/8836582", "http://www.ncbi.nlm.nih.gov/pubmed/1348847", "http://www.ncbi.nlm.nih.gov/pubmed/15927700", "http://www.ncbi.nlm.nih.gov/pubmed/10619466", "http://www.ncbi.nlm.nih.gov/pubmed/11343835", "http://www.ncbi.nlm.nih.gov/pubmed/6432557", "http://www.ncbi.nlm.nih.gov/pubmed/7616241", "http://www.ncbi.nlm.nih.gov/pubmed/1997008", "http://www.ncbi.nlm.nih.gov/pubmed/24084697", "http://www.ncbi.nlm.nih.gov/pubmed/1904482", "http://www.ncbi.nlm.nih.gov/pubmed/3917287", "http://www.ncbi.nlm.nih.gov/pubmed/11135014", "http://www.ncbi.nlm.nih.gov/pubmed/2414683", "http://www.ncbi.nlm.nih.gov/pubmed/2426412", "http://www.ncbi.nlm.nih.gov/pubmed/20408420", "http://www.ncbi.nlm.nih.gov/pubmed/1436125", "http://www.ncbi.nlm.nih.gov/pubmed/7692885", "http://www.ncbi.nlm.nih.gov/pubmed/1470299", "http://www.ncbi.nlm.nih.gov/pubmed/6780662", "http://www.ncbi.nlm.nih.gov/pubmed/6746835", "http://www.ncbi.nlm.nih.gov/pubmed/12658372", "http://www.ncbi.nlm.nih.gov/pubmed/16292508", "http://www.ncbi.nlm.nih.gov/pubmed/8287902", "http://www.ncbi.nlm.nih.gov/pubmed/26830512", "http://www.ncbi.nlm.nih.gov/pubmed/7690229", "http://www.ncbi.nlm.nih.gov/pubmed/17066255", "http://www.ncbi.nlm.nih.gov/pubmed/23940784", "http://www.ncbi.nlm.nih.gov/pubmed/19168057", "http://www.ncbi.nlm.nih.gov/pubmed/1663587", "http://www.ncbi.nlm.nih.gov/pubmed/904693", "http://www.ncbi.nlm.nih.gov/pubmed/8361951", "http://www.ncbi.nlm.nih.gov/pubmed/3103858", "http://www.ncbi.nlm.nih.gov/pubmed/7889269", "http://www.ncbi.nlm.nih.gov/pubmed/22841861", "http://www.ncbi.nlm.nih.gov/pubmed/8096696", "http://www.ncbi.nlm.nih.gov/pubmed/8511717" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0004058", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4251263", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D065105", "http://www.biosemantics.org/jochem#4251263", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D024322", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001142" ]

[ "Yes, pseudouridine (Ψ) is the most abundant of>150 nucleoside modifications in RNA." ]

[ "yes" ]

[ "Pseudouridine (Ψ) is the most abundant of>150 nucleoside modifications in RNA. ", "The number and position of the pseudouridines of Haloarcula marismortui and Deinococcus radiodurans large subunit RNA have been determined by a combination of total nucleoside analysis by HPLC-mass spectrometry and pseudouridine sequencing by the reverse transcriptase method and by LC/MS/MS.", "Pseudouridine is the most abundant of more than 100 chemically distinct natural ribonucleotide modifications." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25616362", "http://www.ncbi.nlm.nih.gov/pubmed/20106954", "http://www.ncbi.nlm.nih.gov/pubmed/15659360" ]

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[ "The important drug resistance-conferring members belong to three subfamilies of the human ABC family; these are ABCB1 (MDR1/P-glycoprotein of subfamily ABCB), subfamily ABCC (MRPs), and ABCG2 (BCRP of subfamily ABCG), which are expressed in various organs. The ATP-binding cassette (ABC) transporters constitute a large family of membrane proteins, which transport a variety of compounds through the membrane against a concentration gradient at the cost of ATP hydrolysis" ]

[ "ATP dependent small molecule transporter" ]

[ "structure, function, and expression of the important drug resistance-conferring members belonging to three subfamilies of the human ABC family; these are ABCB1 (MDR1/P-glycoprotein of subfamily ABCB), subfamily ABCC (MRPs), and ABCG2 (BCRP of subfamily ABCG), which are expressed in various organs. ", "Transport proteins, including members of the multidrug resistance protein (MRP)/ABCC subfamily, have been recognized to contribute to the latter function. MRP5 (ABCC5) was identified as transmembrane transport protein for cyclic nucleotides, especially 3',5'-cyclic GMP (cGMP), indicating an additional role in signal transduction and a potential role in placenta development.", "According to the new nomenclature of human ABC transporter genes, the 'ABCC' gene sub-family comprises three classes involving multidrug resistance-associated proteins (MRPs), sulfonylurea receptors (SURs), and a cystic fibrosis transmembrane conductance regulator (CFTR).", "With the addition of these two genes, the complete human ABCC subfamily has 12 identified members (ABCC1-12), nine from the multidrug resistance-like subgroup, two from the sulfonylurea receptor subgroup, and the CFTR gene.", "Identification and bioinformatic characterization of a multidrug resistance associated protein (ABCC) gene in Plasmodium berghei.", "One major group of transporters is known as multidrug resistance associated proteins (MRP; ABCC gene family).", "On the other hand, several human multidrug resistance proteins [human ATP-binding cassette transporter, subfamily C (ABCC)] cause resistance against nucleoside analogs and mediate transport of phosphorylated nucleoside derivatives out of the cells in an ATP-dependent manner.", "According to the new nomenclature of human ABC transporter genes, the 'ABCC' gene sub-family comprises three classes involving multidrug resistance-associated proteins (MRPs), sulfonylurea receptors (SURs), and a cystic fibrosis transmembrane conductance regulator (CFTR).", "Several MRP/ABCC members (MRPs 1-3) are associated with tumor resistance which is often caused by an increased efflux and decreased intracellular accumulation of natural product anticancer drugs and other anticancer agents.", "In vitro, the MRP/ABCC transporters can collectively confer resistance to natural product anticancer drugs and their conjugated metabolites, platinum compounds, folate antimetabolites, nucleoside and nucleotide analogs, arsenical and antimonial oxyanions, peptide-based agents, and in concert with alterations in phase II conjugating or biosynthetic enzymes, classical alkylating agents, alkylating agents.", "The human MRP/ABCC transporters except MRP9/ABCC12 are all able to transport organic anions, such as drugs conjugated to glutathione, sulphate or glucuronate.", "The ABCC multidrug resistance associated proteins (ABCC-MRP), a subclass of ABC transporters are involved in multiple physiological processes that include cellular homeostasis, metal detoxification, and transport of glutathione-conjugates.", "he ABCC subfamily of the ATP binding cassette (ABC) transporters, which were formerly known as multidrug resistance-related proteins (MRPs), consists of closely related members found in all eukaryotic organisms.", "The ATP-binding cassette (ABC) transporters are a superfamily of membrane proteins that are best known for their ability to transport a wide variety of exogenous and endogenous substances across membranes against a concentration gradient via ATP hydrolysis. There are seven subfamilies of human ABC transporters, one of the largest being the 'C' subfamily (gene symbol ABCC).", "Nine ABCC subfamily members, the so-called multidrug resistance proteins (MRPs) 1-9, have been implicated in mediating multidrug resistance in tumor cells to varying degrees as the efflux extrude chemotherapeutic compounds (or their metabolites) from malignant cells" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16006996", "http://www.ncbi.nlm.nih.gov/pubmed/21799180", "http://www.ncbi.nlm.nih.gov/pubmed/16815813", "http://www.ncbi.nlm.nih.gov/pubmed/15631998", "http://www.ncbi.nlm.nih.gov/pubmed/19118502", "http://www.ncbi.nlm.nih.gov/pubmed/16357150", "http://www.ncbi.nlm.nih.gov/pubmed/18535159", "http://www.ncbi.nlm.nih.gov/pubmed/18691054", "http://www.ncbi.nlm.nih.gov/pubmed/18668432", "http://www.ncbi.nlm.nih.gov/pubmed/26191068", "http://www.ncbi.nlm.nih.gov/pubmed/12499391", "http://www.ncbi.nlm.nih.gov/pubmed/18484914", "http://www.ncbi.nlm.nih.gov/pubmed/20360301", "http://www.ncbi.nlm.nih.gov/pubmed/21740521", "http://www.ncbi.nlm.nih.gov/pubmed/11483364" ]

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[ "The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation. The hepatic prohormone convertase furin mediates the posttranslational processing of hepcidin." ]

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[ "Hepcidin is mainly produced by the liver as a propeptide and processed by furin into the mature active peptide. ", "Implication of the proprotein convertases in iron homeostasis: proprotein convertase 7 sheds human transferrin receptor 1 and furin activates hepcidin.", "Analysis of primary hepatocytes from mice lacking furin, PC5, PACE4, or PC7 revealed that hepcidin, which limits iron availability in the circulation, is specifically generated by furin and not by PC7. ", "Among the PC family members, only furin activates hepcidin in hepatocytes, and uniquely the full-length membrane-bound PC7 can directly shed hTfR1 by cleavage at Arg100 ↓.", "The human hepcidin gene contains three exons that encode a 72-aa precursor (pro-hepcidin) with a characteristic furin cleavage site immediately N-terminal to the 25-aa major hepcidin species found in plasma and urine [3]", "Pro-hepcidin is unable to degrade the iron exporter ferroportin unless maturated by a furin-dependent process.", "The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation. This peptide regulates iron export from enterocytes and macrophages by binding the membrane iron exporter, ferroportin, leading to its degradation. ", "Our results demonstrate that pro-hepcidin lacks biological activity, unless fully maturated by a furin-dependent process to yield the bioactive 25-aa peptide.", "Posttranslational processing of hepcidin in human hepatocytes is mediated by the prohormone convertase furin.", "Hepcidin is encoded as an 84 amino acid prepropeptide containing a typical N-terminal 24 amino acid endoplasmic reticulum targeting signal sequence, and a 35 amino acid proregion (pro) with a consensus furin cleavage site immediately followed by the C-terminal 25 amino acid bioactive iron-regulatory hormone (mature peptide). ", "In conclusion, the hepatic prohormone convertase furin mediates the posttranslational processing of hepcidin.", "In conclusion, the hepatic prohormone convertase furin mediates the posttranslational processing of hepcidin.", "Furin in turn may control hepcidin expression.", "Regulation of prohepcidin processing and activity by the subtilisin-like proprotein convertases Furin, PC5, PACE4 and PC7.", "BACKGROUND/AIMS: The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation.", "Furin activity was also modulated using furin inhibitor or siRNA-mediated furin mRNA knockdown.RESULTS: We found that pro-hepcidin could fully induce ferroportin degradation, but only when processed by furin to generate the mature hepcidin-25 form.", "Furin activity was also modulated using furin inhibitor or siRNA-mediated furin mRNA knockdown.We found that pro-hepcidin could fully induce ferroportin degradation, but only when processed by furin to generate the mature hepcidin-25 form", "CONCLUSIONS: These results demonstrate the key role of the convertases Furin, PACE4, PC5 and/or PC7 in the generation and secretion of active hepcidin and suggest that the control of hepcidin processing as a potential therapeutic/diagnostic strategy in hepcidin-related disorders such as haemochromatosis, inflammatory diseases, anaemia and cancer.", "BACKGROUND/AIMS: The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation. ", "CONCLUSIONS: Our results demonstrate that pro-hepcidin lacks biological activity, unless fully maturated by a furin-dependent process to yield the bioactive 25-aa peptide.", "The iron-regulatory peptide hepcidin is synthesized in the liver as an 84-aa pre-pro-hormone maturated by proteolysis through a consensus furin cleavage site to generate the bioactive 25-aa peptide secreted in the circulation.", "Furin activity was also modulated using furin inhibitor or siRNA-mediated furin mRNA knockdown.We found that pro-hepcidin could fully induce ferroportin degradation, but only when processed by furin to generate the mature hepcidin-25 form.", "Furin in turn may control hepcidin expression.", "Analysis of primary hepatocytes from mice lacking furin, PC5, PACE4, or PC7 revealed that hepcidin, which limits iron availability in the circulation, is specifically generated by furin and not by PC7.", "Furthermore, the mutated version of pro-hepcidin was completely inefficient at degrading ferroportin in macrophages.CONCLUSIONS: Our results demonstrate that pro-hepcidin lacks biological activity, unless fully maturated by a furin-dependent process to yield the bioactive 25-aa peptide.", "However, the activity of the pro-peptide on ferroportin degradation has never been addressed.METHODS: To answer this question, we produced recombinant pro-hepcidin, both the wild-type form and a furin cleavage site mutant, and tested their activity on ferroportin levels in macrophagic J774 cells.", "Furin in turn may control hepcidin expression..", "We found that pro-hepcidin could fully induce ferroportin degradation, but only when processed by furin to generate the mature hepcidin-25 form.", "Posttranslational processing of hepcidin in human hepatocytes is mediated by the prohormone convertase furin.", "Implication of the proprotein convertases in iron homeostasis: proprotein convertase 7 sheds human transferrin receptor 1 and furin activates hepcidin.", "Pro-hepcidin is unable to degrade the iron exporter ferroportin unless maturated by a furin-dependent process.", "These results demonstrate the key role of the convertases Furin, PACE4, PC5 and/or PC7 in the generation and secretion of active hepcidin and suggest that the control of hepcidin processing as a potential therapeutic/diagnostic strategy in hepcidin-related disorders such as haemochromatosis, inflammatory diseases, anaemia and cancer.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19070914", "http://www.ncbi.nlm.nih.gov/pubmed/23390091", "http://www.ncbi.nlm.nih.gov/pubmed/20634490", "http://www.ncbi.nlm.nih.gov/pubmed/24808863", "http://www.ncbi.nlm.nih.gov/pubmed/18664504", "http://www.ncbi.nlm.nih.gov/pubmed/17905609", "http://www.ncbi.nlm.nih.gov/pubmed/18775801", "http://www.ncbi.nlm.nih.gov/pubmed/19610021" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045683", "http://www.uniprot.org/uniprot/HEPC_RAT", "http://www.uniprot.org/uniprot/HEPC_PONAB", "http://www.uniprot.org/uniprot/HEPC_MOUSE", "http://www.uniprot.org/uniprot/FURIN_BOVIN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064451" ]

[ "The cell death-inducing DNA fragmentation factor alpha-like effector c (CIDEC) is a lipid droplet-associated protein that promotes intracellular triglyceride (TAG) storage. CIDEC is highly expressed in adipocytes, but undetectable in normal liver. However, its hepatic expression rises during fasting or under genetic or diet-induced hepatosteatosis in patients." ]

[]

[ "The expression levels of related adipocyte markers (PPARγ, C/EBPα), mature white adipose tissue specific markers (Cidec, RIP140) increased at the presence of NPY (10(-7), 10(-9), 10(-11) mol/L).", "The cell death-inducing DNA fragmentation factor alpha-like effector c (CIDEC; also known in rodents as FSP27 or fat-specific protein 27) is a lipid droplet-associated protein that promotes intracellular triglyceride (TAG) storage. CIDEC/Fsp27 is highly expressed in adipose tissue, but undetectable in normal liver. However, its hepatic expression rises during fasting or under genetic or diet-induced hepatosteatosis in both mice and patients. ", " Our results also suggest that patients taking fibrates likely have elevated levels of hepatic CIDEC, which may limit the efficient mobilization and catabolism of hepatic TAGs.", "Fat-specific protein 27 (FSP27, CIDEC in humans) is a lipid-coating protein highly expressed in mature white adipocytes that contributes to unilocular lipid droplet formation.", "We studied mouse models and human tissues to identify molecules associated with ASH progression and focused on the mouse fat-specific protein 27 (FSP-27)/human cell death-inducing DFF45-like effector C (CIDEC) protein, which is expressed in white adipose tissues and promotes formation of fat droplets.", "Hepatic CIDEC mRNA expression was increased in patients with AH and correlated with the degree of hepatic steatosis and disease severity including mortality.", "Hepatic expression of FSP27/CIDEC is highly up-regulated in mice following chronic-plus-binge ethanol feeding and in patients with AH; this up-regulation contributes to alcohol-induced liver damage.", "FSP27 [cell death-inducing DFFA-like effector c (CIDEC) in humans] is a protein associated with lipid droplets that downregulates the fatty acid oxidation (FAO) rate when it is overexpressed.", "Fsp27/CIDEC is a CREB target gene induced during early fasting in liver and regulated by FA oxidation rate.", "Similarly, CIDEC expression was upregulated in HepG2 cells by either etomoxir or HMGCS2 interference. Our data indicate that there is a kinetic mechanism of autoregulation between short- and long-term fasting, by which free FAs delivered to the liver during early fasting are accumulated/exported by FSP27/CIDEC, whereas over longer periods of fasting, they are degraded in the mitochondria through the carnitine palmitoyl transferase system.", "However, in adipose tissue the changes in Cidec mRNA did not correspond to the changes in Cidec protein levels, as a HFD decreased Cidec protein abundance.", "Cell death-inducing DFFA-like effector c (CIDEC) protein, also known as fat specific protein 27 (Fsp27), is localized to lipid droplets.", "We studied mouse models and human tissues to identify molecules associated with ASH progression and focused on the mouse fat-specific protein 27 (FSP-27)/human cell death-inducing DFF45-like effector C (CIDEC) protein, which is expressed in white adipose tissues and promotes formation of fat droplets.", "Interestingly, in adipose tissue Cidea protein expression was significantly related to body weight (R=.725), epididymal adipose tissue (EWAT) mass (R=.475) and insulin resistance (R=.706), whereas Cidec protein expression was inversely related to body weight (R=-.787), EWAT mass (R=-.706), and insulin resistance (R=-.679).", "Similar to adipose tissue, Cidea protein expression in liver was significantly related to body weight (R=.660), EWAT mass (R=.468), and insulin resistance (R=.599); however, unlike adipose tissue, Cidec protein levels in liver were not related to body weight or EWAT mass and only moderately associated with insulin resistance (R=-.422, P=0.051).", "The CIDEC protein is located in lipid droplets (LDs) and the endoplasmic reticulum (ER) and is induced in fat deposition.", "CIDEC protein is required for unilocular lipid droplet formation and optimal energy storage in addition to controlling lipid metabolism in adipocytes and hepatocytes.", "Similarly, CIDEC expression was upregulated in HepG2 cells by either etomoxir or HMGCS2 interference.", "The hepatic expression of the cell death-inducing DNA fragmentation factor A-like effector family (CIDEA, CIDEB, and CIDEC) genes is markedly upregulated in mouse models of obesity.", "After the differentiation of adipocyte, the expression pattern of Cidec was similar to that of PPARgamma2.", "This paper examined the tissue expression profile of CIDEC gene in cattle using real-time RT-PCR to suggest that bovine CIDEC is highly expressed in adipose tissue.", "Human adipocytes express high levels of two distinct lipid droplet proteins, fat specific protein 27 (FSP27; also called CIDEC), a member of the CIDE family, and perilipin1 (PLIN1), a member of the PAT family", "These results suggest that insulin regulates CIDEA and CIDEC expression via PI3K, and it regulates expression of each protein via Akt1/2- and JNK2-dependent pathways, respectively, in human adipocytes.", "Differential regulation of CIDEA and CIDEC expression by insulin via Akt1/2- and JNK2-dependent pathways in human adipocytes.", "Differential roles of CIDEA and CIDEC in insulin-induced anti-apoptosis and lipid droplet formation in human adipocytes.", "Human adipocytes express high levels of two distinct lipid droplet proteins, fat specific protein 27 (FSP27; also called CIDEC), a member of the CIDE family, and perilipin1 (PLIN1), a member of the PAT family. ", "Fat-specific protein 27 (FSP27, CIDEC in humans) is a lipid-coating protein highly expressed in mature white adipocytes that contributes to unilocular lipid droplet formation. ", "Using human primary pre-adipocytes, we confirmed that the expression of CIDEC was elevated during the differentiation of pre-adipocytes, and knockdown of CIDEC in human primary pre-adipocytes resulted in differentiation defects. ", "Cell death-inducing DFF45-like effector C (CIDEC) is a lipid droplet-coating protein that promotes triglyceride accumulation and inhibits lipolysis.", "The cell death-inducing DNA fragmentation factor alpha-like effector c (CIDEC; also known in rodents as FSP27 or fat-specific protein 27) is a lipid droplet-associated protein that promotes intracellular triglyceride (TAG) storage.", "Here we demonstrate that knockdown of the lipid droplet protein FSP27 (a.k.a. CIDEC) in human adipocytes increases expression of ATGL at the level of transcription, whereas overexpression of FSP27 has the opposite effect.", "However, the transcriptional regulation of Cidec in adipocyte remains unknown.", "Moreover, the hepatic expression of CIDEC is downregulated by marked weight loss.", "These data demonstrate that, consistent with previous studies conducted in rodents, hepatic expression of CIDEA and CIDEC, but not CIDEB, is increased in obese humans.", "Transcriptional activation of Cidec by PPARgamma2 in adipocyte.", "Our data indicated additional fatty acids stimulated hepatic CIDEC expression and an increasing level of CIDEC induced hepatic LD fusion and lipid accumulation.", "We studied mouse models and human tissues to identify molecules associated with ASH progression and focused on the mouse fat-specific protein 27 (FSP-27)/human cell death-inducing DFF45-like effector C (CIDEC) protein, which is expressed in white adipose tissues and promotes formation of fat droplets.", "By analysis of CIDEC expression in 65 human tissues, we conclude that human CIDEC is predominantly expressed in subcutaneous adipocytes.", "CIDEC/Fsp27 is highly expressed in adipose tissue, but undetectable in normal liver.", "Interestingly, FSP27/CIEDC was expressed in mouse and human livers and was upregulated in obese C57BL/6J mice.", "However, in adipose tissue the changes in Cidec mRNA did not correspond to the changes in Cidec protein levels, as a HFD decreased Cidec protein abundance." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20945533", "http://www.ncbi.nlm.nih.gov/pubmed/21636835", "http://www.ncbi.nlm.nih.gov/pubmed/25255829", "http://www.ncbi.nlm.nih.gov/pubmed/18845124", "http://www.ncbi.nlm.nih.gov/pubmed/26927378", "http://www.ncbi.nlm.nih.gov/pubmed/24065549", "http://www.ncbi.nlm.nih.gov/pubmed/23399566", "http://www.ncbi.nlm.nih.gov/pubmed/26770990", "http://www.ncbi.nlm.nih.gov/pubmed/18311595", "http://www.ncbi.nlm.nih.gov/pubmed/18509062", "http://www.ncbi.nlm.nih.gov/pubmed/24126816", "http://www.ncbi.nlm.nih.gov/pubmed/26367078", "http://www.ncbi.nlm.nih.gov/pubmed/18702959", "http://www.ncbi.nlm.nih.gov/pubmed/18198355", "http://www.ncbi.nlm.nih.gov/pubmed/25210844", "http://www.ncbi.nlm.nih.gov/pubmed/20154362", "http://www.ncbi.nlm.nih.gov/pubmed/19661960", "http://www.ncbi.nlm.nih.gov/pubmed/26176546", "http://www.ncbi.nlm.nih.gov/pubmed/25418138", "http://www.ncbi.nlm.nih.gov/pubmed/26099526", "http://www.ncbi.nlm.nih.gov/pubmed/25477509", "http://www.ncbi.nlm.nih.gov/pubmed/24742676", "http://www.ncbi.nlm.nih.gov/pubmed/26733203", "http://www.ncbi.nlm.nih.gov/pubmed/20596603", "http://www.ncbi.nlm.nih.gov/pubmed/24627478", "http://www.ncbi.nlm.nih.gov/pubmed/27062372", "http://www.ncbi.nlm.nih.gov/pubmed/20190390", "http://www.ncbi.nlm.nih.gov/pubmed/17884815", "http://www.ncbi.nlm.nih.gov/pubmed/23220584" ]

[]

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[ "The coffee paradox in stroke: Increased consumption linked with fewer strokes." ]

[ "The coffee paradox in stroke: Increased consumption linked with fewer strokes." ]

[ "The majority of prospective studies have reported a weak inverse association between moderate consumption of coffee and risk of stroke. However, there are yet no clear biological mechanisms whereby coffee might provide cardiovascular health benefits. Awaiting the results from further long-term RCTs and prospective studies, moderate consumption of filtered coffee, tea, and dark chocolate seems prudent." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24326448" ]

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[]

[ "The Orpington Prognostic Scale (OPS) is used to predict futue functional status of stroke patients, to asses stroke severity, outcome and response to subacute rehabilitation. In patients with stroke, OPS and NIHSS had significant contribution to the estimation of the functional status and OPS was more effective than NIHSS. However, other reported that the OPS has limited predictive accuracy for discharge destination and is a poor predictor of follow-up services." ]

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[ "Stroke severity was determined using the Orpington Prognostic Scale.", "Predicting response to rehabilitation in elderly patients with stroke using the Orpington Prognostic Scale and selected clinical variables.", " The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke.", "The OPS scores were strong predictors of response to subacute rehabilitation and discharge FIM motor subscale scores. The OPS may warrant a broader application as a prognostic indicator for patients with stroke.", "PURPOSE: The aim of our study is to compare the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) and to evaluate whether they help us estimate the future functional status of patients with stroke.", "Comparison of the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) for the prediction of the functional status of patients with stroke.", "CONCLUSION: In patients with stroke, OPS and NIHSS had significant contribution to the estimation of the functional status and OPS was more effective than NIHSS.", "The Orpington Prognostic Score (OPS) is a clinically derived stroke severity scale that can be used to stratify patients into different severity groups.", "The OPS is a valid measure of stroke severity in Irish stroke in-patients.", "CONCLUSIONS: Despite high inter-rater and test-retest reliability, the OPS has limited predictive accuracy for discharge destination and is a poor predictor of follow-up services.", "PARTICIPANTS: Sixty-four patients with recent stroke admitted for inpatient rehabilitation were randomized within severity strata (Orpington Prognostic Scale) into 1 of 3 intervention groups.", "Predicting final disposition after stroke using the Orpington Prognostic Score.", "In Calgary, the Orpington Prognostic Score (OPS) has been used to predict outcome as an aid to rehabilitation triage. ", "CONCLUSIONS: The first week OPS can be used to predict final outcome.", "Predicting stroke recovery: three- and six-month rates of patient-centered functional outcomes based on the orpington prognostic scale.", "CONCLUSION: OPS scores can predict widely differing rates of functional recovery in five important functional abilities. ", "Prediction of functional outcome after stroke: comparison of the Orpington Prognostic Scale and the NIH Stroke Scale.", "CONCLUSIONS: Our results demonstrate that in a sample of mostly mild and moderate strokes, the Orpington Prognostic Scale compared with the NIH Stroke Scale is simpler to use and is a slightly better predictor of ADL and higher levels of physical function.", "CONCLUSIONS: The Orpington score when assessed at 2-weeks post-stroke is a useful prognostic indicator with special suitability for the elderly and may help to select patients most likely to benefit from stroke unit rehabilitation.", "The OPS at 48 hours is a good predictor of outcome at 6 months and 2 years after ischemic stroke and allows early identification of 3 prognostic groups, which may help in identifying patients most likely to benefit from intensive rehabilitation.", "The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke.", "This study investigates the prognostic ability of the Orpington Prognostic Scale within 48 hours (OPS-1) after admission in predicting outcome at 6 months and 2 years in acute ischemic stroke and compares it with the 2 week OPS (OPS-2).", "The aim of our study is to compare the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) and to evaluate whether they help us estimate the future functional status of patients with stroke.", "This study compared the ability of 2 stroke impairment scales, Orpington Prognostic Scale and National Institutes of Health (NIH) Stroke Scale, to predict disability as measured by the Barthel activities of daily living (ADL) Index and higher level of self-reported physical functioning as measured by the SF-36 physical functioning index (PFI) at 1, 3, and 6 months after stroke.", "To provide recovery rates after stroke for specific functions using the Orpington Prognostic Scale (OPS).", "To study the validity of the Orpington scale as a predictive instrument of functional prognosis in patients with stroke.", "In Calgary, the Orpington Prognostic Score (OPS) has been used to predict outcome as an aid to rehabilitation triage.", "The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke.Twenty-two subjects in the subacute care setting diagnosed with acute stroke were prospectively studied", "This study investigates the prognostic ability of the Orpington Prognostic Scale within 48 hours (OPS-1) after admission in predicting outcome at 6 months and 2 years in acute ischemic stroke and compares it with the 2 week OPS (OPS-2)", "Predicting response to rehabilitation in elderly patients with stroke using the Orpington Prognostic Scale and selected clinical variables", "Comparison of the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) for the prediction of the functional status of patients with stroke", "Prediction of functional outcome after stroke: comparison of the Orpington Prognostic Scale and the NIH Stroke Scale", "BACKGROUND AND PURPOSE: This study compared the ability of 2 stroke impairment scales, Orpington Prognostic Scale and National Institutes of Health (NIH) Stroke Scale, to predict disability as measured by the Barthel activities of daily living (ADL) Index and higher level of self-reported physical functioning as measured by the SF-36 physical functioning index (PFI) at 1, 3, and 6 months after stroke. ", "The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke. ", "PURPOSE: The aim of our study is to compare the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) and to evaluate whether they help us estimate the future functional status of patients with stroke. ", "The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke.Twenty-two subjects in the subacute care setting diagnosed with acute stroke were prospectively studied.", "The purpose of this study was to determine the ability of the Orpington Prognostic Scale (OPS) to predict outcome and response to subacute rehabilitation in older patients with stroke.", "Prediction of functional outcome after stroke: comparison of the Orpington Prognostic Scale and the NIH Stroke Scale.", "Comparison of the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) for the prediction of the functional status of patients with stroke.", "Predicting response to rehabilitation in elderly patients with stroke using the Orpington Prognostic Scale and selected clinical variables.", "The Orpington Prognostic Scale within the first 48 hours of admission as a predictor of outcome in ischemic stroke." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17903924", "http://www.ncbi.nlm.nih.gov/pubmed/16914069", "http://www.ncbi.nlm.nih.gov/pubmed/11300243", "http://www.ncbi.nlm.nih.gov/pubmed/15595254", "http://www.ncbi.nlm.nih.gov/pubmed/16418057", "http://www.ncbi.nlm.nih.gov/pubmed/16634344", "http://www.ncbi.nlm.nih.gov/pubmed/16690572", "http://www.ncbi.nlm.nih.gov/pubmed/15083439", "http://www.ncbi.nlm.nih.gov/pubmed/16097508", "http://www.ncbi.nlm.nih.gov/pubmed/8463526", "http://www.ncbi.nlm.nih.gov/pubmed/9731605", "http://www.ncbi.nlm.nih.gov/pubmed/12173758", "http://www.ncbi.nlm.nih.gov/pubmed/16337699", "http://www.ncbi.nlm.nih.gov/pubmed/19785245", "http://www.ncbi.nlm.nih.gov/pubmed/12961913" ]

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[]

[ "Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes. Profiling the primary transcripts in the nucleus with whole-genome tiling arrays delineated simultaneous activation of transcription centred on IEGs.", "rapid induction of immediate-early genes (iegs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes.", "Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes. Even in surrounding intergenic regions, transcriptional activation took place at the same time.", "Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes.", "Here we show that intensive transcription at one locus frequently spills over into its physical neighbouring loci. Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes." ]

[ "yes" ]

[ "Rapid induction of immediate-early genes (IEGs) in response to growth factor stimulations is accompanied by co-upregulation of their neighbouring genes.", "Even in surrounding intergenic regions, transcriptional activation took place at the same time. ", "Here we show that intensive transcription at one locus frequently spills over into its physical neighbouring loci.", "Ripples from neighbouring transcription.", "Ripples from neighbouring transcription." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19160492" ]

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[]

[ "MethylKit is a comprehensive R package for the analysis of genome-wide DNA methylation profiles. MethylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation." ]

[ "methylKit" ]

[ "methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles.", " Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.", "Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments.", "methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles", "Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation", "Here, we describe an R package, methylKit, that rapidly analyzes genome-wide cytosine epigenetic profiles from high-throughput methylation and hydroxymethylation sequencing experiments. methylKit includes functions for clustering, sample quality visualization, differential methylation analysis and annotation features, thus automating and simplifying many of the steps for discerning statistically significant bases or regions of DNA methylation.", "methylKit: a comprehensive R package for the analysis of genome-wide DNA methylation profiles." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23034086" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:1905643", "http://amigo.geneontology.org/amigo/term/GO:1905642", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019175", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008745", "http://amigo.geneontology.org/amigo/term/GO:0044728" ]

[ "Macrophage-T cell interactions can mediate neuropathic pain through the glucocorticoid-induced TNF" ]

[ "yes" ]

[ "here is evidence for a considerable impact of the immune system also in neuropathic pain. However, the role of the adaptive immune system is still unclear.", " Our investigation revealed a clear shift of T-cell subsets towards anti-inflammation in patients with neuropathic pain. ", " GITRL expressed on macrophages drives cytokine release and T cell activation, resulting in neuropathic pain via GITR-dependent actions. ", "Thus, this T-cell subset may be specifically targeted to alleviate chronic neuropathic pain.<CopyrightInformation>Copyright © 2012 International Association for the Study of Pain", "Recent studies show that T cells play an important role in neuropathic pain following nerve injury in rats", "These results show a peripheral pivotal role of CatS in the development of neuropathic pain through the antigen-specific activation of CD4(+) T-cells", "Chemokine (C-C motif) ligand 1 (CCL-1), a well-characterized chemokine secreted by activated T cells, has been shown to play an important role in neuropathic pain induced by nerve injury and is also produced in various cell types in the CNS, especially in dorsal root ganglia (DRG)", "In the present study, we investigated systemic T-cell subset responses and T-cell related cytokine profiles in patients with chronic neuropathic pain.", "Anti-inflammatory T-cell shift in neuropathic pain.", "Thus, this T-cell subset may be specifically targeted to alleviate chronic neuropathic pain..", "Regulatory T cells attenuate neuropathic pain following peripheral nerve injury and experimental autoimmune neuritis.", "Macrophage-T cell interactions mediate neuropathic pain through the glucocorticoid-induced tumor necrosis factor ligand system." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27646435", "http://www.ncbi.nlm.nih.gov/pubmed/22789131", "http://www.ncbi.nlm.nih.gov/pubmed/25787078", "http://www.ncbi.nlm.nih.gov/pubmed/24553941", "http://www.ncbi.nlm.nih.gov/pubmed/25608762", "http://www.ncbi.nlm.nih.gov/pubmed/23747724", "http://www.ncbi.nlm.nih.gov/pubmed/15541898", "http://www.ncbi.nlm.nih.gov/pubmed/22189457" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013601", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050378", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010146" ]

[ "cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996 and their families. We estimate that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000. ", "cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996 and their families. We estimate that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000.", "When looking cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996, it was estimated that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000." ]

[ "1.6 per 100,000 people" ]

[ "cases of ALD diagnosed in Australia and New Zealand between 1981 and 1996 and their families. We estimate that the combined incidence of ALD and its variants in Australasia is at least 1.6 per 100,000. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9556302" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000326", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009520", "http://www.disease-ontology.org/api/metadata/DOID:10588" ]

[ "Yes, telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia." ]

[ "yes" ]

[ "Telomere length is regulated around an equilibrium set point. Telomeres shorten during replication and are lengthened by telomerase. Disruption of the length equilibrium leads to disease; thus, it is important to understand the mechanisms that regulate length at the molecular level. ", "High telomerase activity is detected in nearly all human cancers but most human cells are devoid of telomerase activity. There is well-documented evidence that reactivation of telomerase occurs during cellular transformation. In humans, tumors can rely in reactivation of telomerase or originate in a telomerase positive stem/progenitor cell, or rely in alternative lengthening of telomeres, a telomerase-independent telomere-length maintenance mechanism.", " Together, these observations may provoke a re-evaluation of telomere and telomerase based therapies, both in telomerase inhibition for cancer therapy and telomerase activation for tissue regeneration and anti-ageing strategies.", "Telomeres progressively shorten throughout life. A hallmark of advanced malignancies is the ability for continuous cell divisions that almost universally correlates with the stabilization of telomere length by the reactivation of telomerase.", "Telomerase-mediated telomere elongation provides cell populations with the ability to proliferate indefinitely. Telomerase is capable of recognizing and extending the shortest telomeres in cells;", "Telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice with aplastic anemia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27401551", "http://www.ncbi.nlm.nih.gov/pubmed/27154402", "http://www.ncbi.nlm.nih.gov/pubmed/26903545", "http://www.ncbi.nlm.nih.gov/pubmed/27483324", "http://www.ncbi.nlm.nih.gov/pubmed/27029895" ]

[]

[]

[ "Yes, recent studies have identified ABCE1 as a ribosome-recycling factor important for translation termination in mammalian cells, yeast and also archaea" ]

[ "yes" ]

[ "Ribosome recycling orchestrated by the ATP binding cassette (ABC) protein ABCE1 can be considered as the final-or the first-step within the cyclic process of protein synthesis, connecting translation termination and mRNA surveillance with re-initiation.", " Recent studies have identified ABCE1 as a ribosome-recycling factor important for translation termination in mammalian cells, yeast and also archaea.", "d a termination/prerecycling complex containing eRF1-ABCE1", "ABCE1, a eukaryotic ribosome recycling factor" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27824037", "http://www.ncbi.nlm.nih.gov/pubmed/26276635", "http://www.ncbi.nlm.nih.gov/pubmed/25001285", "http://www.ncbi.nlm.nih.gov/pubmed/25659154", "http://www.ncbi.nlm.nih.gov/pubmed/25128630" ]

[]

[]

[ "Classic triad of the De Morsier syndrome (septooptic dysplasia) includes optic nerve hypoplasia, the absence of septum pellucidum, and pituitary hypoplasia." ]

[ "optic nerve hypoplasia", "absence of septum pellucidum", "pituitary hypoplasia" ]

[ " SOD was formerly known as de Morsier syndrome, which associated a midline brain defect such as an absent septum pellucidum with optic nerve hypoplasia.", "The triad consists of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects, although it can vary in the severity of clinical presentation and phenotype. ", "INTRODUCTION: Previous studies have described septooptic dysplasia (SOD) to describe patients who have optic nerve hypoplasia, the absence of septum pellucidum, and pituitary hypoplasia.", "BACKGROUND: Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. ", "Septo-optic dysplasia (SOD), otherwise called De Morsier syndrome, is a developmental anomaly of mid-line brain structures and includes optic nerve hypoplasia, absence of the septum pellucidum and hypothalamo-pituitary abnormalities). ", "The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as \"septo-optic dysplasia\" or \"de Morsier's syndrome.\"", "An MRI of the brain demonstrated the absence of the septum pellucidum, which confirmed a diagnosis of septo-optic dysplasia or de Morsier syndrome.", "Septo-optic dysplasia (De Morsier syndrome) is a developmental anomaly of mid-line brain structures and includes optic nerve hypoplasia, absence of the septum pellucidum and hypothalamo-pituitary abnormalities.", "Septo-optic dysplasia, also known as de Morsier syndrome, is a rare congenital entity almost always characterized by hypoplasia/dysplasia of the optical nerve, chiasma or optic radiations and the complete or partial absence of the septum pellucidum.", "The de Morsier syndrome, or septo-optic dysplasia, is a developmental anomaly characterized by involvement of the optic system, hypothalamic-pituitary axis and septum pellucidum.", "The term septooptic dysplasia was coined in 1956 by de Morsier, who pointed out the association of optic nerve hypoplasia and absence of the septum pellucidum.", "Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction", "Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction", "Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. ", "Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction.", "Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction.", "[Optic nerve hypoplasia and growth hormone deficiency: de Morsier's syndrome]." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23233151", "http://www.ncbi.nlm.nih.gov/pubmed/10951302", "http://www.ncbi.nlm.nih.gov/pubmed/26842535", "http://www.ncbi.nlm.nih.gov/pubmed/27136085", "http://www.ncbi.nlm.nih.gov/pubmed/3625236", "http://www.ncbi.nlm.nih.gov/pubmed/12373677", "http://www.ncbi.nlm.nih.gov/pubmed/6475068", "http://www.ncbi.nlm.nih.gov/pubmed/18018427", "http://www.ncbi.nlm.nih.gov/pubmed/10037251", "http://www.ncbi.nlm.nih.gov/pubmed/23422579", "http://www.ncbi.nlm.nih.gov/pubmed/24379556", "http://www.ncbi.nlm.nih.gov/pubmed/308321", "http://www.ncbi.nlm.nih.gov/pubmed/9606688", "http://www.ncbi.nlm.nih.gov/pubmed/19270460", "http://www.ncbi.nlm.nih.gov/pubmed/24678945", "http://www.ncbi.nlm.nih.gov/pubmed/22330852", "http://www.ncbi.nlm.nih.gov/pubmed/17876417", "http://www.ncbi.nlm.nih.gov/pubmed/20602044", "http://www.ncbi.nlm.nih.gov/pubmed/20049400", "http://www.ncbi.nlm.nih.gov/pubmed/12733175" ]

[]

[ "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:225" ]

[ "Yes, oculocutaneous albinism shows an autosomal recessive inheritance." ]

[ "yes" ]

[ "Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss. ", "Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. ", "Oculocutaneous albinism type 2 (OCA2) is a human autosomal-recessive hypopigmentation disorder associated with pathological mutations of the OCA2 gene.", "Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The mutation on TYR gene makes OCA1 as an autosomal recessive genetic disorder. ", "Our patients were diagnosed as affected with Oculocutaneous albinism type1a. Analysis of pedigree pattern showed an autosomal recessive inheritance. ", "Oculocutaneous albinism (OCA) is an autosomal recessive disorder of melanin biosynthesis that results in congenital hypopigmentation of ocular and cutaneous tissues.", "Oculocutaneous albinism is an autosomal recessive genetic disorder.", "Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder.", "The pedigrees were consistent with an autosomal recessive inheritance pattern.CONCLUSION: This unique type of oculocutaneous albinism has heterogeneous clinical features.", "BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species.", "The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1.", "Analysis using the POINTER program showed that this type of oculocutaneous albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 +/- 0.007 in this population.", "We have identified 12 families with oculocutaneous albinism type 1 that exhibit segregation of the c.1205G>A variant with a known pathologic mutation on the homologous chromosome, and demonstrate no genetic association between autosomal recessive oculocutaneous albinism and the Q402 variant.", "BACKGROUND: Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13.", "The child with ocular albinism was heterozygous for two different mutations in the P gene.CONCLUSIONS: Abnormalities of the P gene are associated with a wide range of clinical phenotypes, including type II oculocutaneous albinism, albinism associated with the Prader-Willi syndrome, and at least some cases of autosomal recessive ocular albinism.", "Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance", "The pedigrees were consistent with an autosomal recessive inheritance pattern.This unique type of oculocutaneous albinism has heterogeneous clinical features", "Oculocutaneous albinism (OCA) is an autosomal recessive disorder", "Oculocutaneous albinism (OCA) is an autosomal recessive disorder of abnormal melanin formation, which results in hypopigmentation of skin, hair and eyes", "The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder", "We found oculo-cutaneous albinism in two brothers and granular dystrophy in three brothers, the mother and a son.Corneal dystrophy is an autosomal dominant disorder inherited independently of oculocutaneous albinism, which is inherited as an autosomal recessive condition", "Oculocutaneous albinism (OCA) type 4 is a newly identified human autosomal recessive hypopigmentary disorder that disrupts pigmentation in the skin, hair and eyes", "Analysis using the POINTER program showed that this type of oculocutaneous albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 +/- 0.007 in this population. ", "DISCUSSION: Corneal dystrophy is an autosomal dominant disorder inherited independently of oculocutaneous albinism, which is inherited as an autosomal recessive condition. ", "BACKGROUND: Oculocutaneous albinism type II (OCA2) is an autosomal recessively inherited disorder, characterized by white hair and skin, and loss of pigment in the eyes. ", "Is autosomal recessive deafness associated with oculocutaneous albinism a \"coincidence syndrome\"?", "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?", "Mutations in the TYR gene (TYR, 11q14-21, MIM 606933) cause oculocutaneous albinism type 1 (OCA1, MIM 203100), a developmental disorder having an autosomal recessive mode of inheritance.", "Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss.", "Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22088535", "http://www.ncbi.nlm.nih.gov/pubmed/14599068", "http://www.ncbi.nlm.nih.gov/pubmed/8190479", "http://www.ncbi.nlm.nih.gov/pubmed/20019752", "http://www.ncbi.nlm.nih.gov/pubmed/17768386", "http://www.ncbi.nlm.nih.gov/pubmed/12829739", "http://www.ncbi.nlm.nih.gov/pubmed/8618053", "http://www.ncbi.nlm.nih.gov/pubmed/25703744", "http://www.ncbi.nlm.nih.gov/pubmed/24054038", "http://www.ncbi.nlm.nih.gov/pubmed/16752321", "http://www.ncbi.nlm.nih.gov/pubmed/23112997", "http://www.ncbi.nlm.nih.gov/pubmed/22817390", "http://www.ncbi.nlm.nih.gov/pubmed/8302318", "http://www.ncbi.nlm.nih.gov/pubmed/10960773", "http://www.ncbi.nlm.nih.gov/pubmed/26165494", "http://www.ncbi.nlm.nih.gov/pubmed/8042664", "http://www.ncbi.nlm.nih.gov/pubmed/19208379", "http://www.ncbi.nlm.nih.gov/pubmed/12727022", "http://www.ncbi.nlm.nih.gov/pubmed/11045591", "http://www.ncbi.nlm.nih.gov/pubmed/17355913", "http://www.ncbi.nlm.nih.gov/pubmed/7064008", "http://www.ncbi.nlm.nih.gov/pubmed/25919014", "http://www.ncbi.nlm.nih.gov/pubmed/16868655", "http://www.ncbi.nlm.nih.gov/pubmed/3742854" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:0050632", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016115", "http://www.disease-ontology.org/api/metadata/DOID:0050737", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000417" ]

[ "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.", "the dal cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable saccharomyces cerevisiae to use allantoin as a nitrogen source.", "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source. The DAL cluster is located in a domain of modified chromatin involving both H2A.Z histone exchange and Hst1-Sum1-mediated histone deacetylation, and it may be a coadapted gene complex formed by epistatic selection.", "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source. Six of the eight genes involved in allantoin degradation, which were previously scattered around the genome, became relocated to a single subtelomeric site in an ancestor of S. cerevisiae and Saccharomyces castellii." ]

[ "The DAL cluster" ]

[ "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.", "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source.", "Birth of a metabolic gene cluster in yeast by adaptive gene relocation.", "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source", "Birth of a metabolic gene cluster in yeast by adaptive gene relocation", "The DAL cluster is the largest metabolic gene cluster in yeast and consists of six adjacent genes encoding proteins that enable Saccharomyces cerevisiae to use allantoin as a nitrogen source. ", "For example the DAL metabolic cluster in yeast was assembled in recent evolutionary times in the Hemiascomycetes lineage, through a set of rearrangements that brought together the genes involved in the allantoin degradation pathway. ", "For example the DAL metabolic cluster in yeast was assembled in recent evolutionary times in the Hemiascomycetes lineage, through a set of rearrangements that brought together the genes involved in the allantoin degradation pathway." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15951822", "http://www.ncbi.nlm.nih.gov/pubmed/22916115" ]

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[ "The MCAST algorithm uses a hidden Markov model with a P-value-based scoring scheme to identify candidate CRMs." ]

[]

[ "MCAST: scanning for cis-regulatory motif clusters.", " The MCAST algorithm uses a hidden Markov model with a P-value-based scoring scheme to identify candidate CRMs. Here, we introduce a new version of MCAST that offers improved graphical output, a dynamic background model, statistical confidence estimates based on false discovery rate estimation and, most significantly, the ability to predict CRMs while taking into account epigenomic data such as DNase I sensitivity or histone modification data. We demonstrate the validity of MCAST's statistical confidence estimates and the utility of epigenomic priors in identifying CRMs.AVAILABILITY AND IMPLEMENTATION: MCAST is part of the MEME Suite software toolkit. A web server and source code are available at http://meme-suite.org and http://alternate.meme-suite.org", "On a data set of 16 gap and pair-rule genes containing 52 known CRMs, predictions made by HexDiff had a higher correlation with the known CRMs than several existing CRM prediction algorithms: Ahab, Cluster Buster, MSCAN, MCAST, and LWF. ", "The p-value scoring also allows mcast to only accept motif occurrences with significance below a user-specified threshold, while still assigning better scores to motif occurrences with lower p-values. mcast can search long DNA sequences, modeling length distributions between motifs within a regulatory module, but ignoring length distributions between modules. ", "Given a collection of known transcription factor binding motifs, many bioinformatics methods have been proposed over the past 15 years for identifying within a genomic sequence candidate CRMs consisting of clusters of those motifs.The MCAST algorithm uses a hidden Markov model with a P-value-based scoring scheme to identify candidate CRMs.", "The algorithm, called mcast, takes as input a DNA database and a collection of binding site motifs that are known to operate in concert. mcast uses a motif-based hidden Markov model with several novel features.", "The algorithm, called mcast, takes as input a DNA database and a collection of binding site motifs that are known to operate in concert.", "On a data set of 16 gap and pair-rule genes containing 52 known CRMs, predictions made by HexDiff had a higher correlation with the known CRMs than several existing CRM prediction algorithms: Ahab, Cluster Buster, MSCAN, MCAST, and LWF.", "MCAST: scanning for cis-regulatory motif clusters." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16253142", "http://www.ncbi.nlm.nih.gov/pubmed/14534166", "http://www.ncbi.nlm.nih.gov/pubmed/26704599" ]

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[ "The ApoE4 isoform is associated with increased frequency of atherosclerosis and Alzheimer's disease (AD)." ]

[ "ApoE4 isoform", "Apolipoprotein E4 isoform" ]

[ "Among three isoforms, the apoE4 isoform is associated with increased frequency of atherosclerosis and Alzheimer's disease (AD). ", "Homozygosity for ApoE epsilon4 is associated with atherosclerosis and Alzheimer's disease whereas ApoE epsilon2 and epsilon3 tend to be protective.", "Importantly, lipoproteins containing the apoE3 isoform had higher TGF-beta levels and bioactivity than those containing apoE4, a major genetic risk factor for atherosclerosis and Alzheimer's disease. ", "ApoE4 is positively associated with atherosclerosis and late-onset and sporadic Alzheimer's disease (AD). ", "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. ", "Although APOE-epsilon3 is considered a longevity gene, APOE-epsilon4 is a dual risk factor to atherosclerosis and Alzheimer disease.", "The apolipoprotein E (apoE) type epsilon 4 isoform specifies increased cerebral and cerebrovascular accumulation of amyloid-beta protein (A beta) and contributes to the genetic susceptibility underlying a large proportion (approximately 60%) of typical, sporadic Alzheimer disease.", "The structural preference of apoE4 to remain functional in solution may explain the enhanced opportunity of apoE4 isoform to display its pathophysiologic functions in atherosclerosis and Alzheimer disease.", "The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity.", "The apolipoprotein E type 4 allele is a susceptibility gene for late-onset Alzheimer's disease.", "The apolipoprotein E (ApoE) ε4 allele is the strongest risk factor of sporadic Alzheimers disease (AD), however, the fluid concentrations of ApoE and its different isoforms (ApoE2, ApoE3 and ApoE4) in AD patients and among APOE genotypes (APOE ε2, ε3, ε4) remain controversial", "Among three isoforms, the apoE4 isoform is associated with increased frequency of atherosclerosis and Alzheimers disease (AD)", "Homozygosity for ApoE epsilon4 is associated with atherosclerosis and Alzheimers disease whereas ApoE epsilon2 and epsilon3 tend to be protective", "Homozygosity for ApoE epsilon4 is associated with atherosclerosis and Alzheimer's disease whereas ApoE epsilon2 and epsilon3 tend to be protective. ", "Although APOE-epsilon3 is considered a longevity gene, APOE-epsilon4 is a dual risk factor to atherosclerosis and Alzheimer disease. ", "The apoE4 allele is a major risk factor for late-onset familial and sporadic Alzheimer's disease (AD) and is associated with a poor outcome after brain injury. ", "Among three isoforms, the apoE4 isoform is associated with increased frequency of atherosclerosis and Alzheimer's disease (AD).", "Homozygosity for ApoE epsilon4 is associated with atherosclerosis and Alzheimer's disease whereas ApoE epsilon2 and epsilon3 tend to be protective.", "Importantly, lipoproteins containing the apoE3 isoform had higher TGF-beta levels and bioactivity than those containing apoE4, a major genetic risk factor for atherosclerosis and Alzheimer's disease.", "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.", "The decreased antioxidant activity of E4 could contribute to its association with Alzheimer's disease, cardiovascular disease and decreased longevity.", "The isoform apoE4 is associated with an increased risk of Alzheimer's disease and it has been postulated that high intracellular cholesterol levels promote the amyloidogenic processing of amyloid precursor protein.", "Among three ɛ2, ɛ3, ɛ4 alleles, ɛ4 allele is associated with the increase in cholesterol level, risk of atherosclerosis and Alzheimer disease, while ɛ2 allele is associated with the decrease in cholesterol level and risk of atherosclerosis.", "Although APOE-epsilon3 is considered a longevity gene, APOE-epsilon4 is a dual risk factor to atherosclerosis and Alzheimer disease.", "The structural preference of apoE4 to remain functional in solution may explain the enhanced opportunity of apoE4 isoform to display its pathophysiologic functions in atherosclerosis and Alzheimer disease.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15014128", "http://www.ncbi.nlm.nih.gov/pubmed/16903824", "http://www.ncbi.nlm.nih.gov/pubmed/24633805", "http://www.ncbi.nlm.nih.gov/pubmed/18823563", "http://www.ncbi.nlm.nih.gov/pubmed/15570172", "http://www.ncbi.nlm.nih.gov/pubmed/14614898", "http://www.ncbi.nlm.nih.gov/pubmed/27683909", "http://www.ncbi.nlm.nih.gov/pubmed/15475580", "http://www.ncbi.nlm.nih.gov/pubmed/22918225", "http://www.ncbi.nlm.nih.gov/pubmed/25871773", "http://www.ncbi.nlm.nih.gov/pubmed/10816430", "http://www.ncbi.nlm.nih.gov/pubmed/7846048", "http://www.ncbi.nlm.nih.gov/pubmed/21705182", "http://www.ncbi.nlm.nih.gov/pubmed/22401921", "http://www.ncbi.nlm.nih.gov/pubmed/16540478", "http://www.ncbi.nlm.nih.gov/pubmed/21907569", "http://www.ncbi.nlm.nih.gov/pubmed/8726460", "http://www.ncbi.nlm.nih.gov/pubmed/10949525", "http://www.ncbi.nlm.nih.gov/pubmed/22393530", "http://www.ncbi.nlm.nih.gov/pubmed/26427386", "http://www.ncbi.nlm.nih.gov/pubmed/15649697", "http://www.ncbi.nlm.nih.gov/pubmed/11701639", "http://www.ncbi.nlm.nih.gov/pubmed/18359298", "http://www.ncbi.nlm.nih.gov/pubmed/24754513", "http://www.ncbi.nlm.nih.gov/pubmed/23293020", "http://www.ncbi.nlm.nih.gov/pubmed/8782820", "http://www.ncbi.nlm.nih.gov/pubmed/20531185", "http://www.ncbi.nlm.nih.gov/pubmed/8367470", "http://www.ncbi.nlm.nih.gov/pubmed/7891887", "http://www.ncbi.nlm.nih.gov/pubmed/23781009", "http://www.ncbi.nlm.nih.gov/pubmed/19033669", "http://www.ncbi.nlm.nih.gov/pubmed/19549280" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000544", "http://www.disease-ontology.org/api/metadata/DOID:10652", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050197", "http://www.disease-ontology.org/api/metadata/DOID:1936", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053327" ]

[ "ULEs are located in intergenic or intronic regions and are depleted from segmental duplications. In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications), and that this association is not related with a higher content of genes.", "we begin by showing that depletion for uces characterizes the most recent large-scale human cnv datasets and then find that even newly formed de novo cnvs, which have passed through meiosis at most once, are significantly depleted for uces.", "Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell. These elements are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development.", "Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants. Notably, of the UCEs that are found in segmental duplications or copy number variants, the majority overlap exons, indicating, along with other findings presented, that UCEs overlapping exons represent a distinct subset.", "Here we address the process by which CNVs become depleted of UCEs. We begin by showing that depletion for UCEs characterizes the most recent large-scale human CNV datasets and then find that even newly formed de novo CNVs, which have passed through meiosis at most once, are significantly depleted for UCEs.", "Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants." ]

[ "no" ]

[ "Here we address the process by which CNVs become depleted of UCEs.", "We begin by showing that depletion for UCEs characterizes the most recent large-scale human CNV datasets and then find that even newly formed de novo CNVs, which have passed through meiosis at most once, are significantly depleted for UCEs.", "In striking contrast, CNVs arising specifically in cancer cells are, as a rule, not depleted for UCEs and can even become significantly enriched.", "Alternatively, lack of depletion for UCEs from cancer CNVs may reflect the diseased state. ", "ULEs are located in intergenic or intronic regions and are depleted from segmental duplications.", "Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs).", "In addition, here we show that these elements are preferentially found in pathogenic deletions (enrichment ratio 3.6 vs. 0.5 in duplications), and that this association is not related with a higher content of genes.", "In contrast, pathogenic CNVs lacking UCEs showed almost a threefold higher content in genes", "We have demonstrated that nonexonic UCEs are depleted among segmental duplications (SDs) and copy number variants (CNVs) and proposed that their ultraconservation may reflect a mechanism of copy counting via comparison.", "Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants.", "Here, we show that UCEs are significantly depleted among segmental duplications and copy number variants. Notably, of the UCEs that are found in segmental duplications or copy number variants, the majority overlap exons, indicating, along with other findings presented, that UCEs overlapping exons represent a distinct subset.", "Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell.", "Here, we show that UCEs are significantly depleted among segmental duplications and copy number variants.", "We have demonstrated that nonexonic UCEs are depleted among segmental duplications (SDs) and copy number variants (CNVs) and proposed that their ultraconservation may reflect a mechanism of copy counting via comparison.", "Here, we show that UCEs are significantly depleted among segmental duplications and copy number variants.", "Ultraconserved elements (UCEs) are strongly depleted from segmental duplications and copy number variations (CNVs) in the human genome, suggesting that deletion or duplication of a UCE can be deleterious to the mammalian cell", "melanogaster genome revealed depletion of the P-element and piggyBac insertions in and around the Sophophora UCEs.", "Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants.", "Here, we show that UCEs are significantly depleted among segmental duplications and copy number variants.", "Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25340765", "http://www.ncbi.nlm.nih.gov/pubmed/16998490", "http://www.ncbi.nlm.nih.gov/pubmed/22987666", "http://www.ncbi.nlm.nih.gov/pubmed/18957701", "http://www.ncbi.nlm.nih.gov/pubmed/24349264", "http://www.ncbi.nlm.nih.gov/pubmed/21092253" ]

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[ "Woolsorter's disease is caused by the same organism as Anthrax, bacillus Anthrax. " ]

[ "Bacillus Anthracis" ]

[ "Today, woolsorters' disease and other industrial manifestations of anthrax are extremely rare, ", "Working independently of their more famous counterparts (Robert Koch and Louis Pasteur), Anglo-American anthrax investigators used visual representations of anthrax bacilli to persuade their peers that a specific, identifiable cause produced all forms of anthrax-malignant pustule (cutaneous anthrax), intestinal anthrax, and woolsorter's disease (pneumonic anthrax). ", "Today, woolsorters' disease and other industrial manifestations of anthrax are extremely rare, but the increasing threat of bioterrorism means that the international dread and historical lessons of this significant condition should never be forgotten. ", "Today, woolsorters' disease and other industrial manifestations of anthrax are extremely rare, but the increasing threat of bioterrorism means that the international dread and historical lessons of this significant condition should never be forgotten." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18959192", "http://www.ncbi.nlm.nih.gov/pubmed/15486181" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:7427", "http://www.disease-ontology.org/api/metadata/DOID:0050160", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009784" ]

[ "RADAR is a rigorously annotated database of A-to-I RNA editing. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites.", "The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site." ]

[ "RADAR" ]

[ "RADAR: a rigorously annotated database of A-to-I RNA editing", "We present RADAR--a rigorously annotated database of A-to-I RNA editing", "The identification of A-to-I RNA editing sites has been dramatically accelerated in the past few years by high-throughput RNA sequencing studies. RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. RADAR also includes an expandable listing of tissue-specific editing levels for each editing site, which will facilitate the assignment of biological functions to specific editing sites", "We present RADAR--a rigorously annotated database of A-to-I RNA editing (available at http://RNAedit.com).", "RADAR: a rigorously annotated database of A-to-I RNA editing.", "We present RADAR--a rigorously annotated database of A-to-I RNA editing (available at http://RNAedit.com). ", "RADAR includes a comprehensive collection of A-to-I RNA editing sites identified in humans (Homo sapiens), mice (Mus musculus) and flies (Drosophila melanogaster), together with extensive manually curated annotations for each editing site. ", "RADAR: a rigorously annotated database of A-to-I RNA editing." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24163250" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017393" ]

[ "Νο, telomerase activity is found in 85%-90% of all human cancers but not in their adjacent normal cells. Human telomerase reverse transcriptase (hTERT) is an essential component in the telomerase complex that plays an important role in telomerase activity." ]

[ "no" ]

[ "Since telomerase has been recognized as a relevant factor distinguishing cancer cells from normal cells, it has become a very promising target for anti-cancer therapy", "Telomerase plays a pivotal role in cellular immortality and tumorigenesis. Its activity is normally not detectable in most somatic cells while it is reactivated in the vast majority of cancer cells. Therefore, inhibition of telomerase has been viewed as a promising anticancer approach due to its specificity for cancer cells.", "Telomerase activity is found in 85%-90% of all human cancers but not in their adjacent normal cells. Human telomerase reverse transcriptase (hTERT) is an essential component in the telomerase complex that plays an important role in telomerase activity.", "elomerase activation is considered to be a critical step in carcinogenesis and its activity correlates closely with human telomerase reverse transcriptase (hTERT) expression. Since only tumor cells that express telomerase activity would activate this promoter, the hTERT proximal promoter allows for preferential expression of viral genes in tumor cells, leading to selective viral replication" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21790308", "http://www.ncbi.nlm.nih.gov/pubmed/18956258", "http://www.ncbi.nlm.nih.gov/pubmed/17346111", "http://www.ncbi.nlm.nih.gov/pubmed/17531113" ]

[]

[]

[ "The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated. In budding yeast, as well as in other eukaryotes, the Cse4 histone variant (known in vertebrates as CENP-A) is believed to substitute for histone H3 at the centromeric nucleosome.", "The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated Histone H3 localizes to the centromeric DNA in budding yeast In budding yeast, as well as in other eukaryotes, the Cse4 histone variant (known in vertebrates as CENP-A) is believed to substitute for histone H3 at the centromeric nucleosome", "The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated" ]

[ "Lys1", "Cyh1", "Tps13", "Ran1", "H3", "Cse4" ]

[ "The Schizosaccharomyces pombe centromere-linked genes, LYS1 and CYH1 on chromosome I and TPS13 and RAN1 on chromosome II, have been isolated", "Histone H3 localizes to the centromeric DNA in budding yeast", " In budding yeast, as well as in other eukaryotes, the Cse4 histone variant (known in vertebrates as CENP-A) is believed to substitute for histone H3 at the centromeric nucleosome", "Surprisingly, we observed a strong interaction of H3, as well as Cse4, H4, H2A, and H2B, but not histone chaperone Scm3 (HJURP in human) with the centromeric DNA. H3 localizes to centromeric DNA at all stages of the cell cycle.", "Our results favor a H3-Cse4 heterotypic octamer at the budding yeast centromere", "In budding yeast, a single right-handed cenH3/H4/H2A/H2B tetramer wraps the ∼80-bp Centromere DNA Element II (CDE II) sequence of each centromere into a 'hemisome'. ", "Here, we show that Cse4 octamers remain intact under conditions of low salt and urea that dissociate H3 octamers." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22693454", "http://www.ncbi.nlm.nih.gov/pubmed/3464952", "http://www.ncbi.nlm.nih.gov/pubmed/23620291" ]

[]

[]

[ "Yes. The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing." ]

[ "yes" ]

[ "The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing.", "Here, we profile these transcriptomic responses and show that long non-coding RNAs (lncRNAs) are dynamically regulated by neuronal activation, including acute downregulation of the lncRNA Gomafu, previously implicated in brain and retinal development. Moreover, we demonstrate that Gomafu binds directly to the splicing factors QKI and SRSF1 (serine/arginine-rich splicing factor 1) and dysregulation of Gomafu leads to alternative splicing patterns that resemble those observed in SZ for the archetypal SZ-associated genes DISC1 and ERBB4. Finally, we show that Gomafu is downregulated in post-mortem cortical gray matter from the superior temporal gyrus in SZ. These results functionally link activity-regulated lncRNAs and alternative splicing in neuronal function and suggest that their dysregulation may contribute to neurological disorders.", "Gomafu/MIAT/Rncr2 is a long noncoding RNA that has been proposed to control retinal cell specification, stem cell differentiation and alternative splicing of schizophrenia-related genes.", "The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing", "Moreover, we demonstrate that Gomafu binds directly to the splicing factors QKI and SRSF1 (serine/arginine-rich splicing factor 1) and dysregulation of Gomafu leads to alternative splicing patterns that resemble those observed in SZ for the archetypal SZ-associated genes DISC1 and ERBB4. ", "Finally, we show that Gomafu is downregulated in post-mortem cortical gray matter from the superior temporal gyrus in SZ. ", "The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23628989", "http://www.ncbi.nlm.nih.gov/pubmed/25145264" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085", "http://www.disease-ontology.org/api/metadata/DOID:5419", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019967", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012561", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012559" ]

[ "Yes, butterfly rash is symptom of Systemic lupus erythematosus." ]

[ "yes" ]

[ "Diagnosing SLE can be challenging because of the myriad of clinical features and substantial variability between patients. Cutaneous involvement is present in about 60% of cases and typically manifests as a malar or butterfly rash.", "The prevalence of systemic lupus erythematosus (SLE) is 28 per 100,000. ", "We report a 12 years old female patient with an overlap syndrome involving autoimmune hepatitis (AIH) and systemic lupus erythematosus (SLE). The patient presented with jaundice, hepatosplenomegaly, malaise, polyarthralgia, arthritis and butterfly rash on the face.", "Some of the clinical characteristics of SLE patients observed were nephritis (53.7%), fever (53.26%), neuropsychological disorder (36.18%), malar/butterfly rash (27.6%), pulmonary disorder (22.6%), photosensitivity (21.6%), cardiac involvement (21.1%) and oral ulcers (19.09%). ", "Systemic lupus erythematosus and infections: a retrospective study in Saudis.", "The prevalence of the following manifestations was significantly higher for pediatric than for adult-onset disease including: lupus nephritis (43% pediatric vs 26.4% for adult-onset), hematological disorders (57% vs 36.4%), photosensitivity (20% vs 9%), butterfly rash (61% vs 35.5%) and mucosal ulceration (11.4% vs 4%). ", "Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease with highest prevalence among women of childbearing age. ", "We described a unique case of a 25-year-old Arab young woman who was diagnosed with SLE, depending on clinical, laboratory investigations and after she had fulfilled the diagnostic criteria for SLE and had presented the following findings: constitutional findings (fatigue, fever, and arthralgia); dermatologic finding (photosensitivity and butterfly rash); chronic renal failure (proteinuria up to 400 mg in 24 hours); hematologic and antinuclear antibodies (positivity for antinuclear factor (ANF), anti-double-stranded DNA antibodies, direct Coombs, ANA and anti-DNA, low C4 and C3, aCL by IgG and IgM). ", "Grade 1 and 2-3 inflammatory process occurred in 53 (63%) and 31 (37%) patients respectively. Symptom complexes \"systemic inflammation\", \"butterfly rash\", \"wrist petechiae\", \"enanthema of the oral mucous membrane\", and other lesions were regarded as the markers of SLE activity. ", "Systemic lupus erythematosus (SLE) remains a challenging medical problem. ", "Rembrandt's Maria Bockenolle has a butterfly rash and digital deformities: overlapping syndrome of rheumatoid arthritis and systemic lupus erythematosus.", "A butterfly rash on the patient's face suggested a diagnosis of systemic lupus erythematosus (SLE).", "A butterfly rash on the patients face suggested a diagnosis of systemic lupus erythematosus (SLE)", "The diagnosis of SLE could be excluded and the butterfly rash attributed to a laminar hemorrhage, an ecchymosis due to the autoimmune thrombocytopenia.", "We describe a case of KD who developed a typical butterfly rash, reminiscent of SLE. ", "The diagnosis of SLE was made 22 years ago based on Raynaud's phenomenon, butterfly rash, hair loss, photosensitivity and positive antinuclear antibody. ", "Symptom complexes \"systemic inflammation\", \"butterfly rash\", \"wrist petechiae\", \"enanthema of the oral mucous membrane\", and other lesions were regarded as the markers of SLE activity.", "Rembrandt's Maria Bockenolle has a butterfly rash and digital deformities: overlapping syndrome of rheumatoid arthritis and systemic lupus erythematosus.", "To investigate, various unspecific, but otherwise typical clinical symptoms of skin and mucous membranes that arise in SLE patients other than those defined as SLE criteria such as butterfly rash, chronic cutaneous lupus erythematosus, oral ulcers, and increased photosensitivity." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8000104", "http://www.ncbi.nlm.nih.gov/pubmed/27878308", "http://www.ncbi.nlm.nih.gov/pubmed/24948869", "http://www.ncbi.nlm.nih.gov/pubmed/19082832", "http://www.ncbi.nlm.nih.gov/pubmed/7065728", "http://www.ncbi.nlm.nih.gov/pubmed/1440087", "http://www.ncbi.nlm.nih.gov/pubmed/7979581", "http://www.ncbi.nlm.nih.gov/pubmed/17728372", "http://www.ncbi.nlm.nih.gov/pubmed/1765991", "http://www.ncbi.nlm.nih.gov/pubmed/1437923", "http://www.ncbi.nlm.nih.gov/pubmed/23934402", "http://www.ncbi.nlm.nih.gov/pubmed/9598885", "http://www.ncbi.nlm.nih.gov/pubmed/3769804", "http://www.ncbi.nlm.nih.gov/pubmed/2674762", "http://www.ncbi.nlm.nih.gov/pubmed/23019977", "http://www.ncbi.nlm.nih.gov/pubmed/17113236", "http://www.ncbi.nlm.nih.gov/pubmed/17569152", "http://www.ncbi.nlm.nih.gov/pubmed/20120828", "http://www.ncbi.nlm.nih.gov/pubmed/2585838", "http://www.ncbi.nlm.nih.gov/pubmed/7607795", "http://www.ncbi.nlm.nih.gov/pubmed/7924059", "http://www.ncbi.nlm.nih.gov/pubmed/25516474", "http://www.ncbi.nlm.nih.gov/pubmed/12672213" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:8857", "http://www.disease-ontology.org/api/metadata/DOID:9074", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008180" ]

[ "Clr4 is known to regulate silencing and switching at the mating-type loci and to affect chromatin structure at centromeres. The Clr4 methyltransferase determines the subnuclear localization of the mating-type region in fission yeast. Heterochromatin assembly in fission yeast depends on the Clr4 histone methyltransferase, which targets H3K9." ]

[]

[ "Mutations in the clr4+, rik1+ and swi6+ genes dramatically reduce silencing at certain centromeric regions and cause elevated chromosome loss rates", "The Swi6 protein was found to be delocalised from all three silent chromosomal regions, and dispersed within the nucleus, in both clr4 and rik1 mutant cells. ", "Mutations in clr4, rik1 and swi6 also result in elevated sensitivity to reagents which destabilise microtubules and show a synergistic interaction with a mutation in the beta-tubulin gene (nda3).", "These observations suggest that clr4+ and rik1+ must play a role in the assembly of Swi6p into a transcriptionally silent, inaccessible chromatin structure at fission yeast centromeres which is required to facilitate interactions with spindle microtubules and to ensure normal chromosome segregation.", "The chromo and SET domains of the Clr4 protein are essential for silencing in fission yeast.", "Like Su(var)3-9p, Clr4p contains SET and chromo domains, motifs found in proteins that modulate chromatin structure.", "Surprisingly, RNA differential display experiments demonstrated that clr4+ can mediate transcriptional activation of certain other loci.", "These results show that clr4 plays a critical role in silencing at mating-type loci and centromeres through the organization of repressive chromatin structure and demonstrate a new, activator function for Clr4p.", "Clr4 is known to regulate silencing and switching at the mating-type loci and to affect chromatin structure at centromeres. ", "Mutations in Cul4 result in defective localization of Clr4 and loss of silencing at heterochromatic loci.", "The Clr4 methyltransferase determines the subnuclear localization of the mating-type region in fission yeast.", "In a strain lacking the histone methyltransferase Clr4, crucial for the formation of heterochromatin, the mating-type region had a random localization in the nucleus.", "Cut4 and Cut9 interact directly with Swi6/HP1 and Clr4, whereas the mutant Cut4 does not, suggesting that a direct physical interaction of APC subunits Cut4 and Cut9 with Swi6 and Clr4 is instrumental in heterochromatin assembly.", "Thus, APC and heterochromatin proteins Swi6 and Clr4 play a mutually cooperative role in heterochromatin assembly, thereby ensuring chromosomal integrity, inheritance, and segregation during mitosis and meiosis.", "Positive feedback mechanisms that link the RNAi pathway and the Clr4/Suv39h1 histone H3K9 methyltransferase complex (Clr-C) result in requirements for H3K9 methylation for full siRNA production and for siRNA production to achieve full histone methylation.", "Heterochromatin assembly in fission yeast depends on the Clr4 histone methyltransferase, which targets H3K9.", "These analyses place Sir2 and H3K14 deacetylation upstream of Clr4 recruitment during heterochromatin assembly.", "These results show that clr4 plays a critical role in silencing at mating-type loci and centromeres through the organization of repressive chromatin structure and demonstrate a new, activator function for Clr4p", "These results show that clr4 plays a critical role in silencing at mating-type loci and centromeres through the organization of repressive chromatin structure and demonstrate a new, activator function for Clr4p.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9620780", "http://www.ncbi.nlm.nih.gov/pubmed/11273706", "http://www.ncbi.nlm.nih.gov/pubmed/16127433", "http://www.ncbi.nlm.nih.gov/pubmed/17504808", "http://www.ncbi.nlm.nih.gov/pubmed/23771057", "http://www.ncbi.nlm.nih.gov/pubmed/21060862", "http://www.ncbi.nlm.nih.gov/pubmed/8937982", "http://www.ncbi.nlm.nih.gov/pubmed/19117951" ]

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[]

[ "LINC01089 (LncRNA Inhibiting Metastasis; LIMT) is a highly conserved lncRNA, which is depleted in basal-like and in HER2-positive tumors, and the low expression of which predicts poor patient prognosis. Interestingly, EGF rapidly downregulates LIMT expression by enhancing histone deacetylation at the respective promoter. LIMT inhibits extracellular matrix invasion of mammary cells in vitro and tumor metastasis in vivo.", "LIMT is a novel metastasis inhibiting lncRNA suppressed by EGF and downregulated in aggressive breast cancer." ]

[]

[ "LIMT is a novel metastasis inhibiting lncRNA suppressed by EGF and downregulated in aggressive breast cancer.", "This led to the identification of 11 prognostic lncRNAs. Functional analyses of this group uncovered LINC01089 (here renamed LncRNA Inhibiting Metastasis; LIMT), a highly conserved lncRNA, which is depleted in basal-like and in HER2-positive tumors, and the low expression of which predicts poor patient prognosis. Interestingly, EGF rapidly downregulates LIMT expression by enhancing histone deacetylation at the respective promoter. We also find that LIMT inhibits extracellular matrix invasion of mammary cells in vitro and tumor metastasis in vivo In conclusion, lncRNAs dynamically regulated by growth factors might act as novel drivers of cancer progression and serve as prognostic biomarkers.", "Functional analyses of this group uncovered LINC01089 (here renamed LncRNA Inhibiting Metastasis; LIMT), a highly conserved lncRNA, which is depleted in basal-like and in HER2-positive tumors, and the low expression of which predicts poor patient prognosis.", "Interestingly, EGF rapidly downregulates LIMT expression by enhancing histone deacetylation at the respective promoter.", "We also find that LIMT inhibits extracellular matrix invasion of mammary cells in vitro and tumor metastasis in vivo In conclusion, lncRNAs dynamically regulated by growth factors might act as novel drivers of cancer progression and serve as prognostic biomarkers.", "Functional analyses of this group uncovered LINC01089 (here renamed LncRNA Inhibiting Metastasis; LIMT), a highly conserved lncRNA, which is depleted in basal-like and in HER2-positive tumors, and the low expression of which predicts poor patient prognosis.", "LIMT is a novel metastasis inhibiting lncRNA suppressed by EGF and downregulated in aggressive breast cancer.", "We also find that LIMT inhibits extracellular matrix invasion of mammary cells in vitro and tumor metastasis in vivo In conclusion, lncRNAs dynamically regulated by growth factors might act as novel drivers of cancer progression and serve as prognostic biomarkers." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27485121", "http://www.ncbi.nlm.nih.gov/pubmed/27123924" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001943", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018567", "http://www.uniprot.org/uniprot/BCAS1_MOUSE", "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=D058922", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085", "http://www.uniprot.org/uniprot/BRMS1_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064726", "http://www.uniprot.org/uniprot/BCAS1_HUMAN" ]

[ "Yes, infertility is characteristic of individuals with Fanconi anemia." ]

[ "yes" ]

[ "PALB2 links BRCA1 and BRCA2 in homologous recombinational repair of DNA double strand breaks (DSBs). Mono-allelic mutations in PALB2 increase the risk of breast, pancreatic, and other cancers, and biallelic mutations cause Fanconi anemia (FA). ", "Moreover, mutant males showed reduced fertility due to impaired meiosis and increased apoptosis in germ cells. Interestingly, mutant meiocytes showed a significant defect in sex chromosome synapsis, which likely contributed to the germ cell loss and fertility defect.", "In females with Fanconi anemia (FA), infertility is often accompanied by diminished ovarian reserve and hypergonadotropic amenorrhea before the age of 30 years, suggesting primary ovarian insufficiency (POI).", "Substantially reduced AMH levels in females with FA suggest a primary ovarian defect associated with reduced fertility. Measurement of AMH at the time of FA diagnosis and subsequent monitoring of AMH levels at regular intervals may be useful for the timely management of complications related to POI such as subfertility/infertility, osteoporosis, and menopausal symptoms.", "Fanconi anemia (FA) is a human disease of bone marrow failure, leukemia, squamous cell carcinoma, and developmental anomalies, including hypogonadism and infertility. ", "Reduced fertility is one clinical manifestation among other well known Fanconi anemia features. ", "Fanconi anemia (FA) is a human disease of bone marrow failure, leukemia, squamous cell carcinoma, and developmental anomalies, including hypogonadism and infertility", "Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia.", "Fanconi anemia (FA) is a human disease of bone marrow failure, leukemia, squamous cell carcinoma, and developmental anomalies, including hypogonadism and infertility.", "To potentially reduce late effects of malignancy, chronic graft-versus-host disease (GVHD), endocrinopathy, and infertility in patients with Fanconi anemia (FA) undergoing HLA-matched related donor hematopoietic cell transplantation (HCT), we developed a regimen using fludarabine (FLU), cyclophosphamide (CY), and anti-thymocyte globulin (ATG) followed by infusion of T-cell depleted (TCD) bone marrow (BM) or unmanipulated umbilical cord blood (UCB).", "Mutations in Fanca account for the majority of cases of Fanconi anemia (FA), a recessively inherited disease identified by congenital defects, bone marrow failure, infertility, and cancer susceptibility.", "FANCA is mutated in more than 60% of cases of Fanconi anemia (FA), a rare genetically heterogeneous autosomal recessive disorder characterized by bone marrow failure, endocrine tissue cancer susceptibility, and infertility.", "In females with Fanconi anemia (FA), infertility is often accompanied by diminished ovarian reserve and hypergonadotropic amenorrhea before the age of 30 years, suggesting primary ovarian insufficiency (POI).", "Fanconi anemia (FA) is a complex cancer susceptibility disorder associated with DNA repair defects and infertility, yet the precise function of the FA proteins in genome maintenance remains unclear.", "Fanconi anemia (FA) is a genetic disease resulting in bone marrow failure, high cancer risks, and infertility, and developmental anomalies including microphthalmia, microcephaly, hypoplastic radius and thumb." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24438373", "http://www.ncbi.nlm.nih.gov/pubmed/16946016", "http://www.ncbi.nlm.nih.gov/pubmed/12913077", "http://www.ncbi.nlm.nih.gov/pubmed/19101574", "http://www.ncbi.nlm.nih.gov/pubmed/21915857", "http://www.ncbi.nlm.nih.gov/pubmed/25016020", "http://www.ncbi.nlm.nih.gov/pubmed/20494929", "http://www.ncbi.nlm.nih.gov/pubmed/16078221", "http://www.ncbi.nlm.nih.gov/pubmed/20598602", "http://www.ncbi.nlm.nih.gov/pubmed/10915769", "http://www.ncbi.nlm.nih.gov/pubmed/25575015", "http://www.ncbi.nlm.nih.gov/pubmed/15128600", "http://www.ncbi.nlm.nih.gov/pubmed/21951543" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005199", "http://www.disease-ontology.org/api/metadata/DOID:2355", "http://www.disease-ontology.org/api/metadata/DOID:13636", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007248", "http://www.disease-ontology.org/api/metadata/DOID:5223", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007246", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007247" ]

[ "Kupffer cells (KCs)are hepatic macrophages which can secrete matrix metalloproteinases (MMPs), and can contribute to decreased hepatic insulin sensitivity. KCs may play a role in the development of drug induced liver injury (DILI)", "Kupffer cells (KCs) play a role in the development of drug induced liver injury (DILI). Hepatic macrophages consist of Kupffer cells, which are originated from the fetal yolk-sack, and infiltrated bone marrow-derived monocytes/macrophages. " ]

[]

[ "Kupffer cells (KCs) play a role in the development of drug induced liver injury (DILI).", "Hepatic macrophages consist of Kupffer cells, which are originated from the fetal yolk-sack, and infiltrated bone marrow-derived monocytes/macrophages. ", "Kupffer cells (KCs) are the main source of MMP.", "liver, both Kupffer cells and recruited hepatic macrophages can contribute to decreased hepatic insulin sensitivity.", "Macrophages such as Kupffer cells in the liver are multifunctional cells.", "Kupffer cells--the resident macrophages of the liver--are able to release a tremendous array of mediators upon inflammatory conditions, such as infection, and their role in innate immunity is well described in the literature.", "Kupffer cells are the tissue macrophages in the liver and play an important role in the defense mechanisms of the body" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15693545", "http://www.ncbi.nlm.nih.gov/pubmed/26908374", "http://www.ncbi.nlm.nih.gov/pubmed/8621159", "http://www.ncbi.nlm.nih.gov/pubmed/27717685", "http://www.ncbi.nlm.nih.gov/pubmed/26553134", "http://www.ncbi.nlm.nih.gov/pubmed/12964033", "http://www.ncbi.nlm.nih.gov/pubmed/26613891", "http://www.ncbi.nlm.nih.gov/pubmed/1748476" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007728" ]

[ "Saponins are considered antinutrients for humans and have a bitter taste. They should be removed from the crops before consumption." ]

[]

[ "Saponins are readily soluble in water and are approved by the US FDA for inclusion in beverages intended for human consumption. The addition of saponins to existing water supplies offers a new form of intervention into the cycle of rotavirus infection. We believe that saponins will 'coat' the epithelium of the host's small intestine and prevent attachment of rotavirus.", "The levels of antinutrients in meal from the raw seeds were: trypsin inhibitor activity (14.6-28.7 mg trypsin inhibited/g), lectin (25.6-52.2 unit; one unit is the reverse of minimum amount of mg meal/ml assay which produced haemagglutination), saponins (1.9-2.3% as diosgenin equivalent) and phytate (8.4-10%).", "Quinoa cultivars currently grown in North America and Europe require removal of bitter-tasting saponins from the grain prior to human consumption.", " Antinutrients, including phytate, glycoside, saponin and tannin, were screened and quantified. Phytate (112.82 ± 0.1 mg/100 g), glycoside (2.33 ± 0.00 mg/100 g), saponin (1.31 ± 0.00 mg/100g) and tannin (0.21 ± 0.00 mg/100 g) were present in the fruit but phlobatanin and glycosides with steroidal rings were not found.", "antinutritional factors (phytic acid, trypsin inhibitor activity (TIA) and saponins)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8121473", "http://www.ncbi.nlm.nih.gov/pubmed/23533206", "http://www.ncbi.nlm.nih.gov/pubmed/9839832", "http://www.ncbi.nlm.nih.gov/pubmed/11336236", "http://www.ncbi.nlm.nih.gov/pubmed/20725585" ]

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[]

[ "Yes. Golimumab is a TNF-blocking agent indicated as a second-line therapy in ulcerative colitis." ]

[ "yes" ]

[ "Initial experience with golimumab in clinical practice for ulcerative colitis.", "BACKGROUND: Golimumab is a TNF-blocking agent indicated as a second-line therapy in ulcerative colitis.", "CONCLUSIONS: In this short study, golimumab seems to be an alternative treatment in naive and non-naive anti-TNF ulcerative colitis patients.", "Cost-Effectiveness Analysis of 1-Year Treatment with Golimumab/Standard Care and Standard Care Alone for Ulcerative Colitis in Poland.", "OBJECTIVE: The objective of this study was to assess the cost-effectiveness of induction and maintenance treatment up to 1 year of ulcerative colitis with golimumab/standard care and standard care alone in Poland.", "CONCLUSIONS: The biologic treatment of ulcerative colitis patients with golimumab/standard care is more effective but also more costly compared with standard care alone.", "Currently, infliximab, adalimumab, and golimumab are available in the East Asian medical market, and these agents have been shown to be effective for inducing and maintaining long-term remission of IBD.", "Furthermore, upcoming treatments are introduced, such as golimumab, vedolizumab, AJM300, tofacitinib.", "CONCLUSIONS: No significant differences in efficacy in the maintenance phase between infliximab and golimumab or adalimumab were revealed. Infliximab proved to be more effective than adalimumab but of similar efficacy to that of golimumab in the induction phase.", "In this review, we will provide a detailed discussion of the three tumor necrosis factor-alpha (TNF-α) inhibitors currently approved for treatment of ulcerative colitis: infliximab, adalimumab, and golimumab.", "Golimumab, a human anti-TNF antibody, is effective in patients with ulcerative colitis, according to new findings from an international phase III double-blind trial.", "Golimumab for moderately to severely active ulcerative colitis.", "Subcutaneous golimumab maintains clinical response in patients with moderate-to-severe ulcerative colitis.", "Subcutaneous golimumab induces clinical response and remission in patients with moderate-to-severe ulcerative colitis.", "Subcutaneous golimumab, a fully human monoclonal antibody to tumor necrosis factor-α (TNFα), was evaluated as maintenance therapy in TNFα antagonist-naive adults with moderate-to-severe active ulcerative colitis, despite conventional therapy, who responded to golimumab induction therapy.We performed a phase 3, double-blind trial of patients who completed golimumab induction trials (Program of Ulcerative Colitis Research Studies Utilizing an Investigational Treatment, eg, PURSUIT)", "Golimumab, a human anti-TNF antibody, is effective in patients with ulcerative colitis, according to new findings from an international phase III double-blind trial", "The purpose of this review was to describe the management of ulcerative colitis with emphasis on the use of anti-tumor necrosis factor (TNF) agents.Recent research has shown that new anti-TNF agents, adalimumab (ADA) and golimumab, are effective in induction of remission and maintenance of remission in patients with extensive ulcerative colitis", "Vedolizumab and golimumab occurred more effective, and comparably as safe as placebo in patients with active moderate to severe ulcerative colitis increasing the number of available therapeutic options", "The required sample sizes for direct head-to-head trials between infliximab and adalimumab for induction and maintenance are 174 and 204 subjects respectively.This study demonstrates that, compared to placebo, infliximab, adalimumab and golimumab are all effective for the induction and maintenance of remission in ulcerative colitis", "The biosimilar of infliximab is as effective and as safe as its originator in rheumatologic conditions, while a new anti-TNF agent, namely golimumab, has been recently approved for refractory ulcerative colitis", "We evaluated subcutaneous golimumab induction therapy in TNF-α antagonist-naïve patients with moderate-to-severe UC despite conventional treatment. ", "Vedolizumab and golimumab occurred more effective, and comparably as safe as placebo in patients with active moderate to severe ulcerative colitis increasing the number of available therapeutic options.", "The purpose of this review was to describe the management of ulcerative colitis with emphasis on the use of anti-tumor necrosis factor (TNF) agents.Recent research has shown that new anti-TNF agents, adalimumab (ADA) and golimumab, are effective in induction of remission and maintenance of remission in patients with extensive ulcerative colitis.", "Vedolizumab and golimumab occurred more effective, and comparably as safe as placebo in patients with active moderate to severe ulcerative colitis increasing the number of available therapeutic options.", "The biosimilar of infliximab is as effective and as safe as its originator in rheumatologic conditions, while a new anti-TNF agent, namely golimumab, has been recently approved for refractory ulcerative colitis.", "The incremental cost-utility ratio of golimumab/standard care compared to the standard care alone is estimated to be 391,252 PLN/QALY gained (93,155 €/QALYG) from public payer perspective and 374,377 PLN/QALY gained (89,137 €/QALYG) from social perspective.The biologic treatment of ulcerative colitis patients with golimumab/standard care is more effective but also more costly compared with standard care alone.", "The required sample sizes for direct head-to-head trials between infliximab and adalimumab for induction and maintenance are 174 and 204 subjects respectively.This study demonstrates that, compared to placebo, infliximab, adalimumab and golimumab are all effective for the induction and maintenance of remission in ulcerative colitis.", "Recently, 2 new antibodies have been approved: golimumab is a new option for ulcerative colitis and with another more selective mechanism of action; vedolizumab could be useful for ulcerative colitis as well as Crohn's disease.", "The present review summarizes the literature on the role of golimumab, a new anti TNF agent, in ulcerative colitis.Literature search was done on PubMed using the search terms 'golimumab' AND 'ulcerative colitis' from inception till March 2016.", "The aim of this systematic review was to evaluate the efficacy and safety of biological agents (vedolizumab, abatacept, visilizumab, golimumab) in patients with active moderate to severe ulcerative colitis.This paper was prepared according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines.", "Vedolizumab and golimumab occurred more effective, and comparably as safe as placebo in patients with active moderate to severe ulcerative colitis increasing the number of available therapeutic options.", "BACKGROUND & AIMS: Subcutaneous golimumab, a fully human monoclonal antibody to tumor necrosis factor-á (TNFá), was evaluated as maintenance therapy in TNFá antagonist-naive adults with moderate-to-severe active ulcerative colitis, despite conventional therapy, who responded to golimumab induction therapy.METHODS: We performed a phase 3, double-blind trial of patients who completed golimumab induction trials (Program of Ulcerative Colitis Research Studies Utilizing an Investigational Treatment, eg, PURSUIT).", "BACKGROUND & AIMS: Little is known about the efficacy of golimumab, a fully human monoclonal antibody to tumor necrosis factor (TNF) -á, for treatment of ulcerative colitis (UC).", "This study demonstrates that, compared to placebo, infliximab, adalimumab and golimumab are all effective for the induction and maintenance of remission in ulcerative colitis.", "Vedolizumab and golimumab occurred more effective, and comparably as safe as placebo in patients with active moderate to severe ulcerative colitis increasing the number of available therapeutic options..", "Recent research has shown that new anti-TNF agents, adalimumab (ADA) and golimumab, are effective in induction of remission and maintenance of remission in patients with extensive ulcerative colitis.", "Golimumab for moderately to severely active ulcerative colitis.", "Initial experience with golimumab in clinical practice for ulcerative colitis.", "Golimumab was found to be effective and safe in inducing and maintaining clinical remission, clinical response and mucosal healing in patients with UC in the two registration trials.", "[Golimumab Therapy in Ulcerative Colitis].", "Golimumab: clinical update on its use for ulcerative colitis.", "This review will focus on golimumab therapy in ulcerative colitis.", "To assess golimumab pharmacokinetics [PK] and exposure-response [ER] in adults with moderate-to-severe ulcerative colitis [UC] from the Program of Ulcerative Colitis Research Studies Utilizing an Investigational Treatment [PURSUIT] studies." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24955447", "http://www.ncbi.nlm.nih.gov/pubmed/27494322", "http://www.ncbi.nlm.nih.gov/pubmed/24502344", "http://www.ncbi.nlm.nih.gov/pubmed/26907481", "http://www.ncbi.nlm.nih.gov/pubmed/25609972", "http://www.ncbi.nlm.nih.gov/pubmed/24285003", "http://www.ncbi.nlm.nih.gov/pubmed/26738756", "http://www.ncbi.nlm.nih.gov/pubmed/24160948", "http://www.ncbi.nlm.nih.gov/pubmed/24774504", "http://www.ncbi.nlm.nih.gov/pubmed/18683105", "http://www.ncbi.nlm.nih.gov/pubmed/27498886", "http://www.ncbi.nlm.nih.gov/pubmed/25876561", "http://www.ncbi.nlm.nih.gov/pubmed/23344099", "http://www.ncbi.nlm.nih.gov/pubmed/23735746", "http://www.ncbi.nlm.nih.gov/pubmed/26600980", "http://www.ncbi.nlm.nih.gov/pubmed/24842416", "http://www.ncbi.nlm.nih.gov/pubmed/24506179", "http://www.ncbi.nlm.nih.gov/pubmed/26786341", "http://www.ncbi.nlm.nih.gov/pubmed/27440869", "http://www.ncbi.nlm.nih.gov/pubmed/25729432", "http://www.ncbi.nlm.nih.gov/pubmed/23897288", "http://www.ncbi.nlm.nih.gov/pubmed/25817087", "http://www.ncbi.nlm.nih.gov/pubmed/27699641", "http://www.ncbi.nlm.nih.gov/pubmed/25294262", "http://www.ncbi.nlm.nih.gov/pubmed/23770005", "http://www.ncbi.nlm.nih.gov/pubmed/26893582", "http://www.ncbi.nlm.nih.gov/pubmed/27695502", "http://www.ncbi.nlm.nih.gov/pubmed/27723166" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003093", "http://www.disease-ontology.org/api/metadata/DOID:8577", "http://www.biosemantics.org/jochem#4002191" ]

[ "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis. The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization. In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif. In non-flowering land plants, we identify a new class of H2A variants and propose their possible role in the emergence of the H2A.W variant class in flowering plants. ", "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization. In non-flowering land plants, we identify a new class of H2A variants and propose their possible role in the emergence of the H2A.W variant class in flowering plants Covalent histone modifications (e.g.", "The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization. Histone chaperones escort histones, and play key functions during nucleosome assembly/disassembly and in nucleosome structure configuration. Here we focus on plant histone H2A/H2B chaperones, particularly members of the NUCLEOSOME ASSEMBLY PROTEIN-1 (NAP1) and FACILITATES CHROMATIN TRANSCRIPTION (FACT) families, discussing their molecular features, properties, regulation and function. We further discuss roles of NAP1 and FACT in chromatin-based processes, such as transcription, DNA replication and repair. Future major challenges remain in order to define in more detail the overlapping and specific roles of various members of the NAP1 family as well as differences and similarities between NAP1 and FACT family members, and to identify and characterize their partners as well as new families of chaperones to understand histone variant incorporation and chromatin target specificity.", " In non-flowering land plants, we identify a new class of H2A variants and propose their possible role in the emergence of the H2A.W variant class in flowering plants In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization.", "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis", "Histone variants play crucial roles in gene expression, genome integrity, and chromosome segregation. The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization. Histone chaperones escort histones, and play key functions during nucleosome assembly/disassembly and in nucleosome structure configuration. Covalent histone modifications (e.g. ubiquitination, phosphorylation, methylation, acetylation) and H2A variants (H2A.Z, H2A.X and H2A.W) are also discussed in view of their crucial importance in modulating nucleosome organization and function.", "The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing. In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization." ]

[]

[ "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis", "The histone variant H2A.W marks heterochromatin specifically and acts in synergy with heterochromatic marks H3K9me2 and DNA methylation to maintain transposon silencing", "In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif. In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization.", " In non-flowering land plants, we identify a new class of H2A variants and propose their possible role in the emergence of the H2A.W variant class in flowering plants", "Covalent histone modifications (e.g. ubiquitination, phosphorylation, methylation, acetylation) and H2A variants (H2A.Z, H2A.X and H2A.W) are also discussed in view of their crucial importance in modulating nucleosome organization and function.", "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis.", "In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization. ", "In vivo, H2A.W is required for heterochromatin condensation, demonstrating that H2A.W plays critical roles in heterochromatin organization.", "The histone variant H2A.W defines heterochromatin and promotes chromatin condensation in Arabidopsis.", "Similarities in conserved motifs between H2A.W and another H2A variant in metazoans suggest that plants and animals share common mechanisms for heterochromatin condensation..", "In vitro, H2A.W enhances chromatin condensation by promoting fiber-to-fiber interactions via its conserved C-terminal motif." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24995981", "http://www.ncbi.nlm.nih.gov/pubmed/25983206", "http://www.ncbi.nlm.nih.gov/pubmed/25781491" ]

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[ "Bilirubin-induced neurologic dysfunction (BIND) and classical kernicterus are the main dysfunctions of hyperbilirubinemia, whenever bilirubin levels exceed the capacity of the brain defensive mechanisms in preventing its entrance and cytotoxicity. Bilirubin accumulation may lead to deficits in auditory, cognitive, and motor processing, due to neuronal cell death, reduced myelination and glial activation." ]

[]

[ "Bilirubin-induced neurologic dysfunction (BIND) and classical kernicterus are clinical manifestations of moderate to severe hyperbilirubinemia whenever bilirubin levels exceed the capacity of the brain defensive mechanisms in preventing its entrance and cytotoxicity. In such circumstances and depending on the associated co-morbidities, bilirubin accumulation may lead to short- or long-term neurodevelopmental disabilities, which may include deficits in auditory, cognitive, and motor processing. Neuronal cell death, astrocytic reactivity, and microglia activation are part of the bilirubin-induced pathogenesis. ", "Reduced Myelination and Increased Glia Reactivity Resulting from Severe Neonatal Hyperbilirubinemia.", "Bilirubin-induced neurologic dysfunction (BIND) and kernicterus has been used to describe moderate to severe neurologic dysfunction observed in children exposed to excessive levels of total serum bilirubin (TSB) during the neonatal period.", "Histologic studies of brain tissue demonstrate that the onset of severe neonatal hyperbilirubinemia, characterized by seizures, leads to alterations in myelination and glia reactivity. ", "Thus, kernicterus in this model displays not only axonal damage but also myelination deficits and glial activation in different brain regions that are usually related to the neurologic sequelae observed after severe hyperbilirubinemia.", "Advances in the care of neonatal hyperbilirubinemia have led to a decreased incidence of kernicterus. However, neonatal exposure to high levels of bilirubin continues to cause severe motor symptoms and cerebral palsy (CP). Exposure to moderate levels of unconjugated bilirubin may also cause damage to the developing central nervous system, specifically the basal ganglia and cerebellum. ", "High levels of serum unconjugated bilirubin (UCB) in newborns are associated with axonal damage and glial reactivity that may contribute to subsequent neurologic injury and encephalopathy (kernicterus). ", "Hyperbilirubinemia remains one of the most frequent clinical diagnoses in the neonatal period. This condition may lead to the deposition of unconjugated bilirubin (UCB) in the central nervous system, causing nerve cell damage by molecular and cellular mechanisms that are still being clarified. ", "\"Kernicterus\" is a term currently used to describe bilirrubin induced brain injury in the neuro-pathological studies. This is a confusing term and nowadays we prefer bilirrubin encephalopathy or bilirrubin induced neurological dysfunction. ", "We then review the possible alteration of the neuroprotective and trophic barrier functions in the course of bilirubin-induced neurological dysfunctions resulting from hyperbilirubinemia.", "It has been suggested recently that there is an association between hyperbilirubinemia and long-term neurologic dysfunctions.", "In this article, we review computational insights into the brain dysfunctions underlying Parkinson's disease, Huntington's disease, and dystonia, with particular foci on dysfunctions of the dopamine system, basal ganglia pathways, and neuronal oscillations.", "Hyperbilirubinemia may accompany harmful effects such as jaundice, brain dysfunction, and pharmacokinetic alterations of drugs.", "Neonatal jaundice is a common cause of sensorneural hearing loss in children.We aimed to detect the neurotoxic effects of pathologic hyperbilirubinemia on brain stem and auditory tract by auditory brain stem evoked response (ABR) which could predict early effects of hyperbilirubinemia.This case-control study was performed on newborns with pathologic hyperbilirubinemia", "For example, the mean latencies time of wave I was significantly higher in right ear of the case group than in controls (2.16 ± 0.26 vs. 1.77 ± 0.15 milliseconds, respectively) (P &lt; 0.001).Pathologic hyperbilirubinemia causes acute disorder on brain stem function; therefore, early diagnosis of neonatal jaundice for prevention of bilirubin neurotoxic effects is essential", "Wave amplitudes are valuable BAER variables to detect functional impairment of the brainstem and auditory pathway in neonatal hyperbilirubinemia, and are recommended to be used in assessing bilirubin neurotoxicity to the neonatal brain.<CopyrightInformation>Copyright © 2013 European Paediatric Neurology Society", "Histologic studies of brain tissue demonstrate that the onset of severe neonatal hyperbilirubinemia, characterized by seizures, leads to alterations in myelination and glia reactivity", "[Characteristics of auditory brain stem response in neonatal hyperbilirubinemia induced by different causes].", "Excessive hyperbilirubinemia in human neonates can cause permanent dysfunction of the auditory system, as assessed with brainstem auditory evoked potentials (BAEPs).", "A recent surge in reported cases of classical kernicterus, due in part to earlier hospital discharge and relaxation of treatment criteria for hyperbilirubinemia, and new reports of hyperbilirubinemia-induced auditory dysfunction using evoked potential based infant testing and hearing screening, underscore the need to better understand how hyperbilirubinemia causes brain damage in some infants, especially because the damage is preventable.", "Pathologic hyperbilirubinemia causes acute disorder on brain stem function; therefore, early diagnosis of neonatal jaundice for prevention of bilirubin neurotoxic effects is essential." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/3174510", "http://www.ncbi.nlm.nih.gov/pubmed/16361175", "http://www.ncbi.nlm.nih.gov/pubmed/27746217", "http://www.ncbi.nlm.nih.gov/pubmed/25524299", "http://www.ncbi.nlm.nih.gov/pubmed/21575408", "http://www.ncbi.nlm.nih.gov/pubmed/22966025", "http://www.ncbi.nlm.nih.gov/pubmed/23283699", "http://www.ncbi.nlm.nih.gov/pubmed/19754366", "http://www.ncbi.nlm.nih.gov/pubmed/11726727", "http://www.ncbi.nlm.nih.gov/pubmed/23086523", "http://www.ncbi.nlm.nih.gov/pubmed/25793115", "http://www.ncbi.nlm.nih.gov/pubmed/14684236", "http://www.ncbi.nlm.nih.gov/pubmed/25534357", "http://www.ncbi.nlm.nih.gov/pubmed/24309481", "http://www.ncbi.nlm.nih.gov/pubmed/27393040", "http://www.ncbi.nlm.nih.gov/pubmed/21163242", "http://www.ncbi.nlm.nih.gov/pubmed/17342778", "http://www.ncbi.nlm.nih.gov/pubmed/8631524", "http://www.ncbi.nlm.nih.gov/pubmed/23375301", "http://www.ncbi.nlm.nih.gov/pubmed/8340096", "http://www.ncbi.nlm.nih.gov/pubmed/20971088", "http://www.ncbi.nlm.nih.gov/pubmed/26480925", "http://www.ncbi.nlm.nih.gov/pubmed/18821100" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006933", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006932", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051556", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001921", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001663" ]

[ "Yes. mTOR regulates the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1. In turn, MAPKAPK2 phosphorylates the RNA-binding protein ZFP36L1 during senescence, inhibiting its ability to degrade the transcripts of numerous senescence-associated secretory phenotype (SASP) components. Consequently, mTOR inhibition or constitutive activation of ZFP36L1 impairs the non-cell-autonomous effects of senescent cells in both tumour-suppressive and tumour-promoting contexts." ]

[ "yes" ]

[ "mTOR regulates MAPKAPK2 translation to control the senescence-associated secretory phenotype.", "Senescent cells secrete a combination of factors collectively known as the senescence-associated secretory phenotype (SASP). The SASP reinforces senescence and activates an immune surveillance response, but it can also show pro-tumorigenic properties and contribute to age-related pathologies. In a drug screen to find new SASP regulators, we uncovered the mTOR inhibitor rapamycin as a potent SASP suppressor. Here we report a mechanism by which mTOR controls the SASP by differentially regulating the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1. In turn, MAPKAPK2 phosphorylates the RNA-binding protein ZFP36L1 during senescence, inhibiting its ability to degrade the transcripts of numerous SASP components. Consequently, mTOR inhibition or constitutive activation of ZFP36L1 impairs the non-cell-autonomous effects of senescent cells in both tumour-suppressive and tumour-promoting contexts. Altogether, our results place regulation of the SASP as a key mechanism by which mTOR could influence cancer, age-related diseases and immune responses.", "Here we report a mechanism by which mTOR controls the SASP by differentially regulating the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1.", "mTOR regulates MAPKAPK2 translation to control the senescence-associated secretory phenotype", "Here we report a mechanism by which mTOR controls the SASP by differentially regulating the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1", "Here we report a mechanism by which mTOR controls the SASP by differentially regulating the translation of the MK2 (also known as MAPKAPK2) kinase through 4EBP1.", "Both Beclin1-PI3KIII and Beclin1-MAPKAPK2 interactions as were remarkably affected by silencing either ATM or MAPK14.ATM promoted IR-induced autophagy via the MAPK14 pathway, mTOR pathway and Beclin1/PI3KIII complexes.", "mTOR regulates MAPKAPK2 translation to control the senescence-associated secretory phenotype." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26269117", "http://www.ncbi.nlm.nih.gov/pubmed/26280535" ]

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[ "http://www.uniprot.org/uniprot/MAPK2_RABIT", "http://amigo.geneontology.org/amigo/term/GO:0070438", "http://www.uniprot.org/uniprot/MAPK2_DROME", "http://amigo.geneontology.org/amigo/term/GO:0038201", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058570", "http://www.uniprot.org/uniprot/MAPK2_HUMAN", "http://www.uniprot.org/uniprot/MAPK2_CRILO" ]

[ "Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome", "Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome.", "Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome. ", "turner's syndrome (ts) is a chromosomal defect with partial or total absence of the x chromosome." ]

[ "X" ]

[ "Turner's syndrome (TS) is a chromosomal defect with partial or total absence of the X chromosome. ", "Turner syndrome is a genetic disorder caused by the complete or partial absence of an X chromosome in affected women", "Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls", "CONTEXT: Turner syndrome (TS) is the most common genetic problem affecting women and occurs when an X chromosome is completely deleted, portions of an X chromosome are deleted, or chromosomal mosaicism occurs. ", "Turner's syndrome (TS) is a chromosomal disorder that results from the loss of the entire or a part of the X-chromosome and occurs in 1/2,500 female births.", "Women with Turner's syndrome (TS), who lack a complete X-chromosome, show an impairment in remembering faces and in classifying \"fear\" in face images.", "The proposition that finger print variability between individuals might be reduced by the absence of an X-chromosome in Turner's syndrome was rejected.", "While the classic karyotype related to Turner's syndrome is 45,X, the majority of those affected actually have a mosaic chromosomal complement, most often with a second normal cell line (46,XX).", "45,X Turner's syndrome in monozygotic twin sisters.", "Monosomy for the X chromosome is the most frequent cause of Turner's syndrome, a common clinical syndrome associated with particular physical and neurobehavioral features.", "Turner syndrome is a chromosomal abnormality in which there is complete or partial absence of the X chromosome.", " To identify the origin and study the morphology of small supernumerary marker chromosome (sSMC) in Turner syndrome with 45, X/46, X, + mar karyotype.", "Turner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing", "urner phenotype in this family is the result of deletion of the entire short arm of one X chromosome.", "X monosomic mice (39,XO) have a remarkably mild phenotype when compared to women with Turner syndrome (45,XO).", "X-monosomy is a form of Turner syndrome (TS) in which an entire X chromosome is missing. ", "Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19909521", "http://www.ncbi.nlm.nih.gov/pubmed/20197675", "http://www.ncbi.nlm.nih.gov/pubmed/10689047", "http://www.ncbi.nlm.nih.gov/pubmed/15797949", "http://www.ncbi.nlm.nih.gov/pubmed/25800473", "http://www.ncbi.nlm.nih.gov/pubmed/20017317", "http://www.ncbi.nlm.nih.gov/pubmed/8517687", "http://www.ncbi.nlm.nih.gov/pubmed/26757887", "http://www.ncbi.nlm.nih.gov/pubmed/20122165", "http://www.ncbi.nlm.nih.gov/pubmed/17663292", "http://www.ncbi.nlm.nih.gov/pubmed/8151646", "http://www.ncbi.nlm.nih.gov/pubmed/23602925", "http://www.ncbi.nlm.nih.gov/pubmed/3625764", "http://www.ncbi.nlm.nih.gov/pubmed/22711287", "http://www.ncbi.nlm.nih.gov/pubmed/12667526", "http://www.ncbi.nlm.nih.gov/pubmed/26322078", "http://www.ncbi.nlm.nih.gov/pubmed/1240972" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025063", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014960", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025064", "http://www.disease-ontology.org/api/metadata/DOID:3491", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014424", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D041321" ]

[ "Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP)." ]

[ "Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP)." ]

[ "Positive activity by the telomerase repeat amplification protocol (TRAP) was identified in cell extracts of Escherichia coli expressing a sequence-optimized hTERT gene", "The regulatory role of PCDH10 in telomerase activity was confirmed by a telomeric repeat amplification protocol (TRAP) assay, and the biological functions of it were characterized by in vitro proliferation, migration, and invasion assays.", "TRAP assay is a standard method for detecting telomerase activity in various tissues or cell lines. ", "Telomerase activity was determined by TRAP assay.", "The telomerase activity was evaluated by TRAP assay. ", "The telomeric repeat amplification protocol (TRAP) represents an easy and rapid method for detection of telomerase activity in cells. A non-telomeric TS primer is extended by telomerase in the first step followed by the PCR amplification of the products. The PCR step renders this protocol very sensitive to detect telomerase activity at the single cell level making it compatible with the analysis of tumor samples. When run on a polyacrylamide gel, the PCR product is a characteristic ladder of bands due to the repetitive nature of telomeric DNA sequence. The densitometric analysis of the ladder allows the TRAP assay to be used for comparative quantification of telomerase activity in different samples.", "Telomerase enzyme activity can be detected in whole cell lysates by a polymerase chain reaction (PCR)-based method referred to as the telomeric repeat amplification protocol (TRAP). " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26965413", "http://www.ncbi.nlm.nih.gov/pubmed/24528514", "http://www.ncbi.nlm.nih.gov/pubmed/23288413", "http://www.ncbi.nlm.nih.gov/pubmed/26683936", "http://www.ncbi.nlm.nih.gov/pubmed/25225832", "http://www.ncbi.nlm.nih.gov/pubmed/23296661", "http://www.ncbi.nlm.nih.gov/pubmed/23913300" ]

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[ "The Pediatric Index of Mortality 2 (PIM2) is one of the most commonly used scoring systems to predict mortality in patients admitted to pediatric intensive care units. The PIM2 score adequately discriminates survivors from non-survivor" ]

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[ "In this study, we examine if transfusion is an independent predictor of mortality, or if outcomes are merely a result of the initial severity as predicted by Pediatric Risk of Mortality (PRISM) III, Pediatric Index of Mortality (PIM2), and day 1 Pediatric Logistic Organ Dysfunction (PELOD) scores.", "INTRODUCTION: The Pediatric Index of Mortality 2 (PIM2) is one of the most commonly used scoring systems to predict mortality in patients admitted to pediatric intensive care units (PICU) in Argentina.", "CONCLUSIONS: The PIM2 score adequately discriminates survivors from non-survivors.", "PIM2 scoring did not explain the outcome adequately, suggesting need for recalibration.", "CONCLUSION: PIM2 scoring system show adequate discriminatory function and well calibrated for the case mix of patients in PICU of Fayoum, Egypt. It can be used as beneficial tool for evaluation of risk adjusted mortality. ", "The aim of the study was to explore the association between Glasgow Coma Scale (GCS), Paediatric Index of Mortality (PIM2) and Injury Severity Score (ISS), and the long-term outcome of children with injuries.", "Pediatric index of mortality 2 score as an outcome predictor in pediatric Intensive Care Unit in India.", "BACKGROUND AND AIMS: Pediatric index of mortality (PIM) 2 score is one of the severity scoring systems being used for predicting outcome of patients admitted to intensive care units (ICUs).", "CONCLUSION: PIM2 score discriminated well between survivors and death at PICU.", "OBJECTIVE: A study to validate and calibrate Pediatric Index of Mortality-2 (PIM2) in children admitted to our pediatric intensive care unit (PICU).", "CONCLUSION: PIM2 is a good index for prediction of mortality in our pediatric intensive care unit. ", "The Pediatric Index of Mortality 2 (PIM2) is one of the most commonly used scoring systems to predict mortality in patients admitted to pediatric intensive care units (PICU) in Argentina.", "Pediatric Index of Mortality 2 (PIM2) and Pediatric Risk of Mortality (PRISM) are scoring systems to predict mortality likehood; thus, it is necessary to validate such predictors in Pediatric Intensive Care Units' population.", "Although PRISM, PIM and PIM2 have displayed good discrimination and calibration in the present setting, PIM is considered as the most accurate and appropriate tool for predicting mortality in the studied NICU.", "The PIM2 score adequately discriminates survivors from non-survivors." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21132231", "http://www.ncbi.nlm.nih.gov/pubmed/25996320", "http://www.ncbi.nlm.nih.gov/pubmed/25396011", "http://www.ncbi.nlm.nih.gov/pubmed/24051223", "http://www.ncbi.nlm.nih.gov/pubmed/25025075", "http://www.ncbi.nlm.nih.gov/pubmed/23940977", "http://www.ncbi.nlm.nih.gov/pubmed/17549454", "http://www.ncbi.nlm.nih.gov/pubmed/24339640", "http://www.ncbi.nlm.nih.gov/pubmed/26337557", "http://www.ncbi.nlm.nih.gov/pubmed/20019069", "http://www.ncbi.nlm.nih.gov/pubmed/24862750", "http://www.ncbi.nlm.nih.gov/pubmed/26744626", "http://www.ncbi.nlm.nih.gov/pubmed/23429969", "http://www.ncbi.nlm.nih.gov/pubmed/24868211", "http://www.ncbi.nlm.nih.gov/pubmed/17251883", "http://www.ncbi.nlm.nih.gov/pubmed/23100008" ]

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[ "MacroH2A.1 was found to be present at low levels upon the establishment of pluripotency in the inner cell mass and epiblast, but it was highly enriched in the trophectoderm and differentiated somatic cells later in mouse development. Chromatin immunoprecipitation revealed that macroH2A.1 is incorporated in the chromatin of regulatory regions of pluripotency genes in somatic cells such as mouse embryonic fibroblasts and adult neural stem cells, but not in embryonic stem cells. In addition, overexpression of macroH2A isoforms prevented efficient reprogramming of epiblast stem cells to naïve pluripotency.", "1 was found to be present at low levels upon the establishment of pluripotency in the inner cell mass and epiblast, but it was highly enriched in the trophectoderm and differentiated somatic cells later in mouse development.", "Histone variant macroH2A confers resistance to nuclear reprogramming Histone variant macroH2A marks embryonic differentiation in vivo and acts as an epigenetic barrier to induced pluripotency.", "Resistance to reprogramming is associated with incorporation of the histone variant macroH2A, which is retained on the Xi of differentiated cells, but absent from the Xi of EpiSCs. The histone variant macroH2A acts as a component of an epigenetic multilayer that heritably maintains the silent X chromosome and has been shown to restrict tumor development.", "Through manipulation of macroH2A isoforms, we further demonstrate that macroH2A2 is the predominant barrier to reprogramming. In particular, we find macroH2A isoforms to be highly enriched at target genes of the K27me3 demethylase, Utx, which are reactivated early in iPS reprogramming", "MacroH2A.1 was found to be present at low levels upon the establishment of pluripotency in the inner cell mass and epiblast, but it was highly enriched in the trophectoderm and differentiated somatic cells later in mouse development. Histone variant macroH2A marks embryonic differentiation in vivo and acts as an epigenetic barrier to induced pluripotency." ]

[ "no" ]

[ "Through manipulation of macroH2A isoforms, we further demonstrate that macroH2A2 is the predominant barrier to reprogramming.", "In particular, we find macroH2A isoforms to be highly enriched at target genes of the K27me3 demethylase, Utx, which are reactivated early in iPS reprogramming", " Therefore, we propose that macroH2A isoforms provide a redundant silencing layer or terminal differentiation 'lock' at critical pluripotency genes that presents as an epigenetic barrier when differentiated cells are challenged to reprogram.", "Histone variant macroH2A confers resistance to nuclear reprogramming", "Resistance to reprogramming is associated with incorporation of the histone variant macroH2A, which is retained on the Xi of differentiated cells, but absent from the Xi of EpiSCs.", "We highlight the role of macroH2A in the establishment and maintenance of differentiated states and we discuss its still poorly recognized function in transcriptional activation.", "Histone variant macroH2A marks embryonic differentiation in vivo and acts as an epigenetic barrier to induced pluripotency.", "MacroH2A.1 was found to be present at low levels upon the establishment of pluripotency in the inner cell mass and epiblast, but it was highly enriched in the trophectoderm and differentiated somatic cells later in mouse development.", "Chromatin immunoprecipitation revealed that macroH2A.1 is incorporated in the chromatin of regulatory regions of pluripotency genes in somatic cells such as mouse embryonic fibroblasts and adult neural stem cells, but not in embryonic stem cells.", "In addition, overexpression of macroH2A isoforms prevented efficient reprogramming of epiblast stem cells to naïve pluripotency. ", "Macro histone variants are critical for the differentiation of human pluripotent cells", "Here we show that the knockdown of macro histone variants impaired the in vitro and in vivo differentiation of human pluripotent cells, likely through defects in the silencing of pluripotency-related genes", "Furthermore, male and female mH2A-deficient ESCs proliferate normally under pluripotency culture conditions, and respond to several standard differentiation procedures efficiently." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21738686", "http://www.ncbi.nlm.nih.gov/pubmed/22449192", "http://www.ncbi.nlm.nih.gov/pubmed/23595991", "http://www.ncbi.nlm.nih.gov/pubmed/23077180", "http://www.ncbi.nlm.nih.gov/pubmed/23463008", "http://www.ncbi.nlm.nih.gov/pubmed/21552206" ]

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[ "Mutations in the SLC40A1 gene, which encodes the cellular iron exporter ferroportin, are associated with the autosomal dominant hemochromatosis type 4 or Ferroportin disease. The patients characteristically have hyperferritinemia and iron overload." ]

[]

[ "Ferroportin disease is a rare type of autosomal dominantly inherited hemochromatosis caused with mutations in the ferroportin gene (SLC40A1). The patients characteristically have hyperferritinemia but normal transferin saturations. ", "Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.", "Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. ", "A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.", "Ferroportin disease is an inherited disorder of iron metabolism and is caused by mutations in the ferroportin gene (SLC40A1). We present a patient with hyperferritinemia, iron overload in the liver with reticuloendothelial distribution and also in the spleen, and under treatment with erythropheresis. ", "These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease.", "Ferroportin (FPN) mediates iron export from cells and this function is modulated by serum hepcidin. Mutations in the FPN gene (SLC40A1) lead to autosomal dominant iron overload diseases related either to loss or to gain of function, and usually characterized by normal or low transferrin saturation versus elevated transferrin saturation, respectively. ", "Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B). However, the vast majority of SLC40A1 mutations are rare missense variations, with only a few showing strong evidence of causality. ", "p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary hemochromatosis (HH). HH is also caused by mutations in other genes, such as the hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1). ", "Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.", "Ferroportin disease is characterized by iron overload. It has an autosomal-dominant pattern of inheritance and has been associated with mutations in the SLC40A1 gene, which encodes the cellular iron exporter ferroportin.", "Mutations in the SLC40A1 gene, which encodes ferroportin, are associated with autosomal dominant hemochromatosis. Ferroportin is inhibited directly by hepcidin, a key iron-regulatory peptide, and functional consequences of SLC40A1 mutations account for observed phenotypic differences in patients with ferroportin disease. ", "The entire coding sequence of the SLC40A1 gene was sequenced in a pedigree, presenting with autosomal dominant hyperferritinemia.", "A novel SLC40A1 mutation p.R489K segregated with iron overload in a family with clinical and histopathological signs of macrophage-type ferroportin disease. ", "We report a novel pathological SLC40A1 variant associated with abnormal cell surface expression of ferroportin due to intracellular retention of the mutant protein. These findings predict macrophage-type ferroportin disease, the phenotype observed in this kindred. Study of the molecular cell biology of ferroportin and its mutants is key to understanding the pathogenesis of this increasingly recognized form of hemochromatosis, which responds poorly to conventional therapy.", "Classical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. ", "Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype).", "SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease.", "Ferroportin disease is an inherited disorder of iron metabolism and is caused by mutations in the ferroportin gene (SLC40A1).", "Mutations in the SLC40A1 gene, which encodes ferroportin, are associated with autosomal dominant hemochromatosis.", "A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron.", "These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease.", "UNLABELLED: Mutations in the SLC40A1 gene, which encodes ferroportin, are associated with autosomal dominant hemochromatosis.", "This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).", "Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV.", "The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G>A and c.718A>G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively.", "SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease", "A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron", "SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease. ", "The proposed procedure would facilitate the wide-range molecular analysis of the SLC40A1 gene, contributing to better understanding the pathogenesis of the ferroportin disease.", "Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype). ", "Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN).", "It has an autosomal-dominant pattern of inheritance and has been associated with mutations in the SLC40A1 gene, which encodes the cellular iron exporter ferroportin.", "SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease.", "It includes hereditary hemochromatosis related to mutations of other genes, ferroportin disease (also known as hemochromatosis type 4), and entities associated with specific clinical manifestations.", "Ferroportin disease is a special dominantly inherited clinical form of iron overload due to mutations of the SLC40A1 gene.", "Ferroportin disease represents a protean genetic condition in which the different SLC40A1 mutations appear to be responsible for phenotypic variability.", "Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.", "These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21175851", "http://www.ncbi.nlm.nih.gov/pubmed/27896572", "http://www.ncbi.nlm.nih.gov/pubmed/17540536", "http://www.ncbi.nlm.nih.gov/pubmed/21199650", "http://www.ncbi.nlm.nih.gov/pubmed/25744502", "http://www.ncbi.nlm.nih.gov/pubmed/22408404", "http://www.ncbi.nlm.nih.gov/pubmed/16351644", "http://www.ncbi.nlm.nih.gov/pubmed/20648054", "http://www.ncbi.nlm.nih.gov/pubmed/20691492", "http://www.ncbi.nlm.nih.gov/pubmed/16258219", "http://www.ncbi.nlm.nih.gov/pubmed/14636642", "http://www.ncbi.nlm.nih.gov/pubmed/19907151", "http://www.ncbi.nlm.nih.gov/pubmed/17997113", "http://www.ncbi.nlm.nih.gov/pubmed/21411349", "http://www.ncbi.nlm.nih.gov/pubmed/19937651", "http://www.ncbi.nlm.nih.gov/pubmed/27170390", "http://www.ncbi.nlm.nih.gov/pubmed/23943237", "http://www.ncbi.nlm.nih.gov/pubmed/24714983", "http://www.ncbi.nlm.nih.gov/pubmed/26059880", "http://www.ncbi.nlm.nih.gov/pubmed/24644245", "http://www.ncbi.nlm.nih.gov/pubmed/19342478", "http://www.ncbi.nlm.nih.gov/pubmed/22890139", "http://www.ncbi.nlm.nih.gov/pubmed/22297252", "http://www.ncbi.nlm.nih.gov/pubmed/17373275", "http://www.ncbi.nlm.nih.gov/pubmed/15692071", "http://www.ncbi.nlm.nih.gov/pubmed/22584997" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "http://www.uniprot.org/uniprot/S40A1_DANRE", "http://www.uniprot.org/uniprot/S40A1_RAT", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194", "http://www.uniprot.org/uniprot/S40A1_HUMAN" ]

[ "Yes, divalent metal transporter 1 (DMT1) deficiency could result in anemia, as DMT1 is a major iron transporter required for iron absorption and erythropoiesis. DMT1 deficiency impairs erythroid differentiation and induces apoptosis of erythroid cells." ]

[ "yes" ]

[ "The divalent metal transporter 1 (DMT1) is a major iron transporter required for iron absorption and erythropoiesis. Loss of DMT1 function results in microcytic anemia. ", "Dysfunction of human DMT1 is associated with several pathologies such as iron deficiency anemia hemochromatosis, Parkinson's disease and Alzheimer's disease, as well as colorectal cancer and esophageal adenocarcinoma, making DMT1 an attractive target for drug discovery.", "Deficiency of the divalent metal transporter 1 (DMT1) leads to hypochromic microcytic anemia. We have previously shown that DMT1 deficiency impairs erythroid differentiation and induces apoptosis of erythroid cells. ", "We propose that DMT1 deficiency negatively affects metabolism and life span of mature erythrocytes; two other aspects of defective erythropoiesis which contribute to the pathophysiology of the disease.", "Hypochromic microcytic anemia associated with ineffective erythropoiesis caused by recessive mutations in divalent metal transporter 1 (DMT1) can be improved with high-dose erythropoietin supplementation. ", "Belgrade rats exhibit microcytic, hypochromic anemia and systemic iron deficiency due to a glycine-to-arginine mutation at residue 185 in a metal ion transporter of a divalent metal transporter/divalent cation transporter/solute carrier 11 group A member 2 or 3 (DMT1/DCT1/SLC11A2), a member of the natural-resistance-associated macrophage protein (Nramp) family.", "Deficiency of the divalent metal transporter 1 (DMT1) leads to hypochromic microcytic anemia", "Belgrade rats exhibit microcytic, hypochromic anemia and systemic iron deficiency due to a glycine-to-arginine mutation at residue 185 in a metal ion transporter of a divalent metal transporter/divalent cation transporter/solute carrier 11 group A member 2 or 3 (DMT1/DCT1/SLC11A2), a member of the natural-resistance-associated macrophage protein (Nramp) family", "BACKGROUND/AIMS: Deficiency of the divalent metal transporter 1 (DMT1) leads to hypochromic microcytic anemia. ", "Microcytic anemia (mk/mk) mice defective in DMT1 and wild-type mice were exposed to either bleomycin or saline via intratracheal instillation and the resultant lung injury was compared. ", "Deficiency of the divalent metal transporter 1 (DMT1) leads to hypochromic microcytic anemia.", "The divalent metal transporter 1 (DMT1) is a major iron transporter required for iron absorption and erythropoiesis.", "This mutation severely impairs the iron transport capability of DMT1, leading to systemic iron deficiency and anemia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/11090085", "http://www.ncbi.nlm.nih.gov/pubmed/25562168", "http://www.ncbi.nlm.nih.gov/pubmed/10751401", "http://www.ncbi.nlm.nih.gov/pubmed/15024413", "http://www.ncbi.nlm.nih.gov/pubmed/20336479", "http://www.ncbi.nlm.nih.gov/pubmed/15736955", "http://www.ncbi.nlm.nih.gov/pubmed/22580996", "http://www.ncbi.nlm.nih.gov/pubmed/27331785", "http://www.ncbi.nlm.nih.gov/pubmed/26294671", "http://www.ncbi.nlm.nih.gov/pubmed/16085548", "http://www.ncbi.nlm.nih.gov/pubmed/26047847" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:11758", "http://amigo.geneontology.org/amigo/term/GO:0070838", "http://www.disease-ontology.org/api/metadata/DOID:2355", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018798", "http://www.disease-ontology.org/api/metadata/DOID:13121", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000740" ]

[ "The hERG AKA Human ether-a-go-go-related gene coded for a protein subunit of a potassium channel that conducts delayed rectifier K(+) current" ]

[ "no" ]

[ " The human ether-à-go-go-related gene (hERG 1a) potassium channel is critical for cardiac repolarization", "Human ether-a-go-go-related gene (hERG) channels conduct delayed rectifier K(+) current. ", "The KvLQT1 and minK genes code the slowly activating, delayed rectifier (Iks) potassium channel, the HERG gene code the rapidly activating, delayed rectifier (Ikr) potassium channel of the heart, while the SCN5A gene codes a cardiac sodium channel.", "The molecular basis of inherited disorders caused by a mutation in either the gene coding for a particular potassium channel called HERG-or another gene, SCN5A, which codes for the sodium channel and disruption of which results in a loss of inactivation of the Na+ current.", "The aim of this study was to test whether a recently reported polymorphism in the HERG gene coding for the rapidly activating delayed rectifier K+ channel has influence on myocardial repolarization.", "Mutations in KvLQT1, minK and HERG genes affects repolarising, rectifier potassium currents, while SCN5A mutations cause delayed inactivation and reopening of the cardiac sodium channel, which initiates the depolarisation of cardiac cells.", "A human genetic defect associated with 'long Q-T syndrome', an abnormality of cardiac rhythm involving the repolarization of the action potential, was recently found to lie in the HERG gene, which codes for a potassium channel.", "Therefore, matrine and oxymatrine may have the potential to cure LQT2 as a potassium channel activator by promoting hERG channel activation and increasing hERG channel expression.", "The human delta1261 mutation of the HERG potassium channel results in a truncated protein that contains a subunit interaction domain and decreases the channel expression.", "HERG (human eag-related gene) encodes an inward-rectifier potassium channel formed by the assembly of four subunits.", "The human ether-?-go-go-related gene (HERG) encodes the pore-forming subunit of the rapidly activating delayed rectifier potassium channel in the heart.", "The human ether-a-go-go-related gene (hERG) encodes the rapidly activating, delayed rectifier potassium channel (IKr) important for cardiac repolarization.", "Role of glycosylation in cell surface expression and stability of HERG potassium channels.", "The human ERG protein (HERG or Kv 11.1) encoded by the human ether-a-go-go-related gene (herg) is the pore-forming subunit of the cardiac delayed rectifier potassium current (IKr) responsible for action potential (AP) repolarization", "Human ether-a-go-go related gene (herg) encoding HERG K(+) channel has been demonstrated in many previous studies with its association to cell cycle progression and growth in tumor cells", "A human genetic defect associated with 'long Q-T syndrome', an abnormality of cardiac rhythm involving the repolarization of the action potential, was recently found to lie in the HERG gene, which codes for a potassium channel. ", "Drug-induced long QT syndrome: hERG K+ channel block and disruption of protein trafficking by fluoxetine and norfluoxetine.", "OBJECTIVES: The aim of this study was to test whether a recently reported polymorphism in the HERG gene coding for the rapidly activating delayed rectifier K+ channel has influence on myocardial repolarization. ", "The aim of this study was to test whether the K897T polymorphism of the KCNH2 (HERG) gene coding for the rapidly activating delayed rectifier K+ channel influences cardiac repolarization assessed by principal component analysis (PCA) of T-wave morphology. ", "The KvLQT1 and minK genes code the slowly activating, delayed rectifier (Iks) potassium channel, the HERG gene code the rapidly activating, delayed rectifier (Ikr) potassium channel of the heart, while the SCN5A gene codes a cardiac sodium channel.", "All code for subunits of sodium or potassium channels: two a subunits of the potassium channels (QVLQT1 for LQT1, HERG for LQT2), the a subunit of the sodium channel INa (SCN5A for LQT3), and two regulatory subunits of potassium channels (KCNE1 for LQT5 regulating the KvLQT1 channel and MiRP1 regulating HERG).", "The corresponding genes code for potassium channels KVLQT1 (LQT1) and HERG (LQT2) and the sodium channel SCN5A (LQT3).", "The molecular basis of inherited disorders caused by a mutation in either the gene coding for a particular potassium channel called HERG-or another gene, SCN5A, which codes for the sodium channel and disruption of which results in a loss of inactivation of the Na+ current.", "There may also be correlation between the strength of binding of the medicinal substance to the potassium channel coded by the HERG gene and prolongation of the QT interval.", "We demonstrate that the mRNA 3'UTR of ppk29 affects neuronal firing rates and associated heat-induced seizures by acting as a natural antisense transcript (NAT) that regulates the neuronal mRNA levels of seizure (sei), the Drosophila homolog of the human Ether-à-go-go Related Gene (hERG) potassium channel.", "Mutations in KvLQT1, minK and HERG genes affects repolarising, rectifier potassium currents, while SCN5A mutations cause delayed inactivation and reopening of the cardiac sodium channel, which initiates the depolarisation of cardiac cells.", "Among the congenital forms, particularly interest is focused on the potassium channel coded by the HERG gene located on chromosome 7 and with a key role in the normal electric cardiac activity.", "By employing heterologous expression and making comparisons to cells expressing wild-type human-ether-a-go-go-related protein (HERG), a potassium channel that contributes to I(Kr) current in ventricular cardiomyocytes, we demonstrate activation of an elevated endoplasmic reticulum (ER) stress response by the mutant I593R HERG potassium channel implicated in long QT syndrome type 2.", "Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome.", "Mutations in the human ether-à-go-go-related gene (HERG), which encodes a delayed-rectifier potassium channel,", "s HERG and KvLQT1 potassium channel genes", "HERG encodes the cardiac I(Kr) potassium channel.", "block of the cardiac potassium channel human ether-à-go-go-related gene (hERG) ", "The human ether-a-go-go-related gene (hERG) encodes the pore-forming α-subunit of the rapidly activating delayed rectifier K(+) channel in the heart, which plays a critical role in cardiac action potential repolarization. ", "Effects of donepezil on hERG potassium channels.", "Human ether-a-go-go related-gene K⁺ channels (hERG) participate in the regulation of tumor cell proliferation and apoptosis. HERG channel activity is up-regulated by growth factors", " hERG potassium channels", "HERG, a K+ channel gene." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26363003", "http://www.ncbi.nlm.nih.gov/pubmed/24475291", "http://www.ncbi.nlm.nih.gov/pubmed/9272507", "http://www.ncbi.nlm.nih.gov/pubmed/14975928", "http://www.ncbi.nlm.nih.gov/pubmed/25498859", "http://www.ncbi.nlm.nih.gov/pubmed/8521555", "http://www.ncbi.nlm.nih.gov/pubmed/25247487", "http://www.ncbi.nlm.nih.gov/pubmed/17882949", "http://www.ncbi.nlm.nih.gov/pubmed/16244363", "http://www.ncbi.nlm.nih.gov/pubmed/9556090", "http://www.ncbi.nlm.nih.gov/pubmed/19139152", "http://www.ncbi.nlm.nih.gov/pubmed/25218469", "http://www.ncbi.nlm.nih.gov/pubmed/24154981", "http://www.ncbi.nlm.nih.gov/pubmed/8873679", "http://www.ncbi.nlm.nih.gov/pubmed/10613047", "http://www.ncbi.nlm.nih.gov/pubmed/23103450", "http://www.ncbi.nlm.nih.gov/pubmed/12142119", "http://www.ncbi.nlm.nih.gov/pubmed/8995352", "http://www.ncbi.nlm.nih.gov/pubmed/24642409", "http://www.ncbi.nlm.nih.gov/pubmed/16472284", "http://www.ncbi.nlm.nih.gov/pubmed/16967046", "http://www.ncbi.nlm.nih.gov/pubmed/12063277", "http://www.ncbi.nlm.nih.gov/pubmed/17311278", "http://www.ncbi.nlm.nih.gov/pubmed/10816797", "http://www.ncbi.nlm.nih.gov/pubmed/26775140", "http://www.ncbi.nlm.nih.gov/pubmed/9272155", "http://www.ncbi.nlm.nih.gov/pubmed/26659724", "http://www.ncbi.nlm.nih.gov/pubmed/26519040", "http://www.ncbi.nlm.nih.gov/pubmed/8587608", "http://www.ncbi.nlm.nih.gov/pubmed/23792956", "http://www.ncbi.nlm.nih.gov/pubmed/18250496", "http://www.ncbi.nlm.nih.gov/pubmed/10531299", "http://www.ncbi.nlm.nih.gov/pubmed/9570196", "http://www.ncbi.nlm.nih.gov/pubmed/18617000", "http://www.ncbi.nlm.nih.gov/pubmed/24045971", "http://www.ncbi.nlm.nih.gov/pubmed/10483966" ]

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[ "Yes, combination of lenvatinib and everolimus is approved to treat advanced or metastatic renal cell carcinoma." ]

[ "yes" ]

[ "However, the combination of lenvatinib, a multitargeted agent that inhibits VEGF as well as FGF receptors, and everolimus demonstrated promising results in a randomized phase II trial. ", "The FDA has approved the combination of lenvatinib and everolimus to treat advanced or metastatic renal cell carcinoma.", "Moreover, a recent Phase II study demonstrated a significant benefit for the second-line combination treatment with everolimus plus lenvatinib (a novel TKI) in terms of progression-free survival and overall survival compared to the single-agent everolimus.", "We then discuss two recently approved growth factor receptor antagonists i.e. cabozantinib and lenvatinib, and a recently approved checkpoint inhibitor, nivolumab, and issues pertaining to drug development, and future directions in treatment of metastatic RCC. ", "INTERPRETATION: Lenvatinib plus everolimus and lenvatinib alone resulted in a progression-free survival benefit for patients with metastatic renal cell carcinoma who have progressed after one previous VEGF-targeted therapy. ", "Lenvatinib therapy for the treatment of patients with advanced renal cell carcinoma.", "Lenvatinib therapy for the treatment of patients with advanced renal cell carcinoma." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27467136", "http://www.ncbi.nlm.nih.gov/pubmed/27267515", "http://www.ncbi.nlm.nih.gov/pubmed/24190702", "http://www.ncbi.nlm.nih.gov/pubmed/27690664", "http://www.ncbi.nlm.nih.gov/pubmed/27047959", "http://www.ncbi.nlm.nih.gov/pubmed/24387233", "http://www.ncbi.nlm.nih.gov/pubmed/26482279", "http://www.ncbi.nlm.nih.gov/pubmed/27339111", "http://www.ncbi.nlm.nih.gov/pubmed/27621699" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002292", "http://www.disease-ontology.org/api/metadata/DOID:4450", "http://www.disease-ontology.org/api/metadata/DOID:4451" ]

[ "The purification of an ATR complex allowed identification of chromodomain-helicase-DNA-binding protein 4 (CHD4) as an ATR-associated protein by tandem mass spectrometric sequencing. CHD4 (also called Mi-2beta) is a component of a histone-deacetylase-2 (HDAC2)-containing complex, the nucleosome remodeling and deacetylating (NRD) complex. Endogenous ATR, CHD4, and HDAC2 are shown to coimmunoprecipitate, and ATR and HDAC2 coelute through two biochemical purification steps. Other members of the NRD complex, HDAC1, MTA1, and MTA2, are also detectable in ATR immunoprecipitates. Sen1 of S. cerevisiae is a known component of the NRD complex implicated in transcription termination of nonpolyadenylated as well as some polyadenylated RNA polymerase II transcripts. We now show that Pcf11, a component of the cleavage and polyadenylation complex (CPAC), is also generally required for NRD-dependent transcription termination through the action of its C-terminal domain (CTD)-interacting domain (CID)." ]

[ "Chd2", "Chd4", "Hdac2", "Mta1", "Mta2", "Sen1", "Pcf11" ]

[ "This activity is derived from the CHD3 and CHD4 proteins which contain helicase/ATPase domains found in SWI2-related chromatin remodelling factors, and facilitates the deacetylation of oligonucleosomal histones in vitro. We refer to this complex as the nucleosome remodelling and deacetylating (NRD) complex", "Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4", "The purification of an ATR complex allowed identification of chromodomain-helicase-DNA-binding protein 4 (CHD4) as an ATR-associated protein by tandem mass spectrometric sequencing. CHD4 (also called Mi-2beta) is a component of a histone-deacetylase-2 (HDAC2)-containing complex, the nucleosome remodeling and deacetylating (NRD) complex", "Endogenous ATR, CHD4, and HDAC2 are shown to coimmunoprecipitate, and ATR and HDAC2 coelute through two biochemical purification steps. Other members of the NRD complex, HDAC1, MTA1, and MTA2, are also detectable in ATR immunoprecipitates.", "Sen1 of S. cerevisiae is a known component of the NRD complex implicated in transcription termination of nonpolyadenylated as well as some polyadenylated RNA polymerase II transcripts. ", "We now show that Pcf11, a component of the cleavage and polyadenylation complex (CPAC), is also generally required for NRD-dependent transcription termination through the action of its C-terminal domain (CTD)-interacting domain (CID).", "In Saccharomyces cerevisiae, short noncoding RNA (ncRNA) generated by RNA polymerase II (Pol II) are terminated by the NRD complex consisting of Nrd1, Nab3, and Sen1.", "Sen1 of S. cerevisiae is a known component of the NRD complex implicated in transcription termination of nonpolyadenylated as well as some polyadenylated RNA polymerase II transcripts.", "CHD4 (also called Mi-2beta) is a component of a histone-deacetylase-2 (HDAC2)-containing complex, the nucleosome remodeling and deacetylating (NRD) complex.", "Other members of the NRD complex, HDAC1, MTA1, and MTA2, are also detectable in ATR immunoprecipitates.", "In Saccharomyces cerevisiae, short noncoding RNA (ncRNA) generated by RNA polymerase II (Pol II) are terminated by the NRD complex consisting of Nrd1, Nab3, and Sen1. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9804427", "http://www.ncbi.nlm.nih.gov/pubmed/25877920", "http://www.ncbi.nlm.nih.gov/pubmed/21211720", "http://www.ncbi.nlm.nih.gov/pubmed/10545197" ]

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[ "traseR is an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD." ]

[ "traseR" ]

[ "traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals", "Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD", "we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD", "Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD.", "traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals.", "traseR: an R package for performing trait-associated SNP enrichment analysis in genomic intervals.", "Here, we present traseR, an easy-to-use R Bioconductor package that performs enrichment analyses of trait-associated SNPs in arbitrary genomic intervals with flexible options, including testing method, type of background and inclusion of SNPs in LD.", "The traseR R package preloaded with up-to-date collection of trait-associated SNPs are freely available in Bioconductor zhaohui.qin@emory.edu Supplementary data are available at Bioinformatics online.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26685307" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000704" ]

[ "Yes, the RNA-binding protein HuR binds at 3' untranslated regions (UTRs) of target transcripts, thereby protecting them against degradation." ]

[ "yes" ]

[ "HuR is also overexpressed during tumourigenesis and is abnormally present within the cytoplasm, where it binds to AU-rich elements in the 3'UTRs of target mRNA and post-transcriptionally regulates the expression of its target genes.", "Human antigen R (HuR) is a ubiquitous 32 kDa protein comprising three RNA Recognition Motifs (RRMs), whose main function is to bind Adenylate and uridylate Rich Elements (AREs) in 3' UnTranslated Regions (UTRs) of mRNAs.", "Human antigen R (HuR) is a ubiquitously expressed RNA-binding protein that modulates gene expression at the post-transcriptional level.", "The RNA-binding protein HuR binds at 3' untranslated regions (UTRs) of target transcripts, thereby protecting them against degradation. ", "ELAV/Hu proteins bind to AU-rich elements (ARE) in mRNAs and regulate their stability from splicing to translation, and the ubiquitous HuR protein has been implicated in cancerous cell growth. ", "This is achieved by altered expression of the proteins TTP and HuR, which bind 3' untranslated region (UTR) elements in cancer-related genes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27941336", "http://www.ncbi.nlm.nih.gov/pubmed/23389914", "http://www.ncbi.nlm.nih.gov/pubmed/25841336", "http://www.ncbi.nlm.nih.gov/pubmed/25265983", "http://www.ncbi.nlm.nih.gov/pubmed/23312841", "http://www.ncbi.nlm.nih.gov/pubmed/24687854" ]

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[ "Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up." ]

[]

[ "Exploding head syndrome is characterized by the perception of loud noises during sleep-wake or wake-sleep transitions.", "Exploding head syndrome is characterized by the perception of abrupt, loud noises when going to sleep or waking up.", "BACKGROUND: Exploding head syndrome (EHS) is characterized by attacks of a sudden noise or explosive feeling experienced in the head occurring during the transition from wake to sleep or from sleep to wake.", "INTRODUCTION: Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang.", "Exploding head syndrome (EHS) is characterized by attacks of a sudden noise or explosive feeling experienced in the head occurring during the transition from wake to sleep or from sleep to wake.", "Exploding head syndrome (EHS) attacks are characterized by the sensation of sudden loud banging noises, and are occasionally accompanied by the sensation of a flash light.", "Exploding head syndrome (EHS) is characterized by attacks of a sudden noise or explosive feeling experienced in the head occurring during the transition from wake to sleep or from sleep to wake.We present six new cases extending the clinical experience with the syndrome", "Exploding head syndrome (EHS) is a rare parasomnia in which affected individuals awaken from sleep with the sensation of a loud bang", "Exploding head syndrome (EHS) attacks are characterized by the sensation of sudden loud banging noises, and are occasionally accompanied by the sensation of a flash light. ", "Exploding head syndrome (EHS) is characterized by attacks of a sudden noise or explosive feeling experienced in the head occurring during the transition from wake to sleep or from sleep to wake.We present six new cases extending the clinical experience with the syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24703829", "http://www.ncbi.nlm.nih.gov/pubmed/24907167", "http://www.ncbi.nlm.nih.gov/pubmed/20112796", "http://www.ncbi.nlm.nih.gov/pubmed/1896728", "http://www.ncbi.nlm.nih.gov/pubmed/20726288", "http://www.ncbi.nlm.nih.gov/pubmed/25773787", "http://www.ncbi.nlm.nih.gov/pubmed/11309216", "http://www.ncbi.nlm.nih.gov/pubmed/2030791", "http://www.ncbi.nlm.nih.gov/pubmed/2769286", "http://www.ncbi.nlm.nih.gov/pubmed/23467433" ]

[]

[ "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:225" ]

[ "We employed genetic, cytological, and genomic approaches to better understand the role of PR-Set7 and H4K20 methylation in regulating DNA replication and genome stability in Drosophila cells. Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes. The methylation state of lysine 20 on histone H4 (H4K20) has been linked to chromatin compaction, transcription, DNA repair and DNA replication. Histone turnover is often associated with various histone modifications such as H3K56 acetylation (H3K56Ac), H3K36 methylation (H3K36me), and H4K20 methylation (H4K20me). We review the signaling pathways and functions associated with a single residue, H4K20, as a model chromatin and clinically important mark that regulates biological processes ranging from the DNA damage response and DNA replication to gene expression and silencing. <CopyrightInformation>© 2016 by The American Society for Biochemistry and Molecular Biology, Inc.</C In particular, the methylation states of H3K4, H3K36 and H4K20 have been associated with establishing active, repressed or poised origins depending on the timing and extent of methylation. 5BrC and 5ClC may cause aberrant methylation of cytosine during DNA replication and mimic the endogenous methylation signal associated with gene silencing.", "H4K20 methylation regulates quiescence and chromatin compaction. H4K20 methylation status plays a direct role in recruiting ORC through the binding properties of ORC1 and ORCA/LRWD1. Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes. Intense research during the past few years has revealed histone H4 lysine 20 methylation (H4K20me) as critically important for the biological processes that ensure genome integrity, such as DNA damage repair, DNA replication and chromatin compaction.", "The methylation state of lysine 20 on histone H4 (H4K20) has been linked to chromatin compaction, transcription, DNA repair and DNA replication. Disruption of these H4K20-specific histone methyltransferases leads to genomic instability, demonstrating the important functions of H4K20 methylation in genome maintenance.", "Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes. The methylation state of lysine 20 on histone H4 (H4K20) has been linked to chromatin compaction, transcription, DNA repair and DNA replication." ]

[ "yes" ]

[ "It seems likely that continued study of the methylation of H4K20 will yield extremely valuable insights concerning the regulation of histone modifications before and during cell division and the impact of these modifications on subsequent gene expression.", "Aberrant rereplication correlates with decreased levels of H4K20me1 and increased levels of H4K20 trimethylation (H4K20me3).", "Consistent with this, H4K20 methylation status plays a direct role in recruiting ORC through the binding properties of ORC1 and ORCA/LRWD1. Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes.", "H4K20 methylation regulates quiescence and chromatin compaction.", "Mass spectrometry analysis of histone modifications reveals that H4K20me2 and H4K20me3 increase in quiescence and other histone modifications are present at similar levels in proliferating and quiescent cells.", "Analysis of cells in S, G2/M, and G1 phases shows that H4K20me1 increases after S phase and is converted to H4K20me2 and H4K20me3 in quiescence. ", "Overexpression of Suv4-20h1, the enzyme that creates H4K20me2 from H4K20me1, results in G2 arrest, consistent with a role for H4K20me1 in mitosis. The results suggest that the same lysine on H4K20 may, in its different methylation states, facilitate mitotic functions in M phase and promote chromatin compaction and cell cycle exit in quiescent cells.", "Histone H4 lysine 20 methylation: key player in epigenetic regulation of genomic integrity.", " Intense research during the past few years has revealed histone H4 lysine 20 methylation (H4K20me) as critically important for the biological processes that ensure genome integrity, such as DNA damage repair, DNA replication and chromatin compaction.", "Disruption of these H4K20-specific histone methyltransferases leads to genomic instability, demonstrating the important functions of H4K20 methylation in genome maintenance. ", "Both H4K20 mono-methylation and H3K56 acetylation mark transcription-dependent histone turnover in fission yeast.", "Histone turnover is often associated with various histone modifications such as H3K56 acetylation (H3K56Ac), H3K36 methylation (H3K36me), and H4K20 methylation (H4K20me).", "These results together indicate that H4K20me1 as well as H3K56Ac are bona fide marks for transcription-dependent histone turnover in fission yeast.", "Methylation of histone H4 lysine 20 by PR-Set7 ensures the integrity of late replicating sequence domains in Drosophila.", "However, these studies were limited to only a handful of mammalian origins, and it remains unclear how PR-Set7 and H4K20 methylation impact the replication program on a genomic scale.", "The methylation state of lysine 20 on histone H4 (H4K20) has been linked to chromatin compaction, transcription, DNA repair and DNA replication. Monomethylation of H4K20 (H4K20me1) is mediated by the cell cycle-regulated histone methyltransferase PR-Set7", " We find that deregulation of H4K20 methylation had no impact on origin activation throughout the genome. Instead, depletion of PR-Set7 and loss of H4K20me1 results in the accumulation of DNA damage and an ATR-dependent cell cycle arrest.", "We review the signaling pathways and functions associated with a single residue, H4K20, as a model chromatin and clinically important mark that regulates biological processes ranging from the DNA damage response and DNA replication to gene expression and silencing.", "Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes.", "We employed genetic, cytological, and genomic approaches to better understand the role of PR-Set7 and H4K20 methylation in regulating DNA replication and genome stability in Drosophila cells.", "The methylation state of lysine 20 on histone H4 (H4K20) has been linked to chromatin compaction, transcription, DNA repair and DNA replication.", "However, these studies were limited to only a handful of mammalian origins, and it remains unclear how PR-Set7 and H4K20 methylation impact the replication program on a genomic scale.", "Methylation of histone H4 lysine-20 has been implicated in DNA repair, transcriptional silencing, genomic stability and regulation of replication.", "Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes", "Methylation of histone H3 on lysine 79 associates with a group of replication origins and helps limit DNA replication once per cell cycle", "We employed genetic, cytological, and genomic approaches to better understand the role of PR-Set7 and H4K20 methylation in regulating DNA replication and genome stability in Drosophila cells.", "We review the signaling pathways and functions associated with a single residue, H4K20, as a model chromatin and clinically important mark that regulates biological processes ranging from the DNA damage response and DNA replication to gene expression and silencing. <CopyrightInformation>© 2016 by The American Society for Biochemistry and Molecular Biology, Inc.</C", "Thus, coordinating the status of H4K20 methylation is pivotal for the proper selection of DNA replication origins in higher eukaryotes..", "Intense research during the past few years has revealed histone H4 lysine 20 methylation (H4K20me) as critically important for the biological processes that ensure genome integrity, such as DNA damage repair, DNA replication and chromatin compaction." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24049080", "http://www.ncbi.nlm.nih.gov/pubmed/24013172", "http://www.ncbi.nlm.nih.gov/pubmed/23152447", "http://www.ncbi.nlm.nih.gov/pubmed/20735237", "http://www.ncbi.nlm.nih.gov/pubmed/23924899", "http://www.ncbi.nlm.nih.gov/pubmed/23345616", "http://www.ncbi.nlm.nih.gov/pubmed/26598646", "http://www.ncbi.nlm.nih.gov/pubmed/27131378", "http://www.ncbi.nlm.nih.gov/pubmed/27268234", "http://www.ncbi.nlm.nih.gov/pubmed/23754963" ]

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[ "Crowned dens syndrome is a rare form of \"crown-like\" calcifications around the dens and often presents with recurrent neck pain, stiffness of neck, increased erythrocyte sedimentation rate, and episodes of fever." ]

[]

[ "BACKGROUND: Patients with crowned dens syndrome (CDS), which is pseudogout of the atlantoaxial junction induced by \"crown-like\" calcifications around the dens, present with symptoms of severe neck pain, rigidity, and high fever. ", "BACKGROUND CONTEXT: Crowned dens syndrome (CDS) is a rare form of calcium phosphate crystal depositions and often presents with recurrent neck pain, stiffness of neck, increased erythrocyte sedimentation rate, and episodes of fever.", "A CT scan revealed calcification of the transverse ligament and crown-like calcification around the odontoid process. According to the clinical and radiological findings, she was diagnosed with crowned dens syndrome (CDS).", "Crystal deposition in the cervical spine around the odontoid process may lead to acute neck pain. This rare condition is called crowned dens syndrome and should be considered in the differential diagnosis of a possible etiology for fever, headache and cervical pain of unknown origin. ", "Crowned dens syndrome (CDS), related to microcrystalline deposition in the periodontoid process, is the main cause of acute or chronic cervical pain.", "Axial calcium pyrophosphate dihydrate deposition disease (CPDD) is well known for cervical spine involvement with the crowned dens syndrome but other localisations are probably underdiagnosed in sterile spondylodiscitis. ", "We describe a patient with crowned dens syndrome which manifested with clinical (acute occipital headache) and radiographic (calcium deposits in the alar ligament) features.", "FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome.", "We describe a patient with crowned dens syndrome which manifested with clinical (acute occipital headache) and radiographic (calcium deposits in the alar ligament) features", "Crowned dens syndrome (CDS), related to microcrystalline deposition in the periodontoid process, is the main cause of acute or chronic cervical pain.This report describes the case of an 87-year-old woman who had severe bradykinesia, muscle rigidity, gait disturbance and neck pain", "The crowned dens syndrome, related to microcrystalline deposition in the peri-odontoid articular and abarticular structures, is mainly responsible for acute or chronic cervical pain.We report eight cases of crowned dens syndrome with atypical presentations mimicking giant cell arteritis, polymyalgia rheumatica, meningitis or discitis", "The crowned dens syndrome as a cause of neck pain: clinical and computed tomography study in patients with calcium pyrophosphate dihydrate deposition disease", "Computed tomography of the cervical spine demonstrated linear calcific deposits in the transverse ligament of atlas (crowned dens syndrome) in all patients.", "Crystals located in the transverse ligament of the atlas give rise to the crowned dens syndrome, usually in patients affected by severe degenerative lesions of the atlantoaxial joint and peripheral chondrocalcinosis.", "BACKGROUND: Patients with crowned dens syndrome typically present with severe neck pain and have calcium deposits around the odontoid process of the axis on radiographs.", "We describe a patient with crowned dens syndrome which manifested with clinical (acute occipital headache) and radiographic (calcium deposits in the alar ligament) features." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27818601", "http://www.ncbi.nlm.nih.gov/pubmed/22303531", "http://www.ncbi.nlm.nih.gov/pubmed/23392827", "http://www.ncbi.nlm.nih.gov/pubmed/27902956", "http://www.ncbi.nlm.nih.gov/pubmed/19210868", "http://www.ncbi.nlm.nih.gov/pubmed/20646716", "http://www.ncbi.nlm.nih.gov/pubmed/15497527", "http://www.ncbi.nlm.nih.gov/pubmed/24715874", "http://www.ncbi.nlm.nih.gov/pubmed/22470810", "http://www.ncbi.nlm.nih.gov/pubmed/25196626", "http://www.ncbi.nlm.nih.gov/pubmed/27733419", "http://www.ncbi.nlm.nih.gov/pubmed/19727898", "http://www.ncbi.nlm.nih.gov/pubmed/25910825", "http://www.ncbi.nlm.nih.gov/pubmed/19834710", "http://www.ncbi.nlm.nih.gov/pubmed/24926265", "http://www.ncbi.nlm.nih.gov/pubmed/20960401", "http://www.ncbi.nlm.nih.gov/pubmed/12614858", "http://www.ncbi.nlm.nih.gov/pubmed/21799227", "http://www.ncbi.nlm.nih.gov/pubmed/25243939", "http://www.ncbi.nlm.nih.gov/pubmed/17361376", "http://www.ncbi.nlm.nih.gov/pubmed/19783114", "http://www.ncbi.nlm.nih.gov/pubmed/24703344", "http://www.ncbi.nlm.nih.gov/pubmed/23806762", "http://www.ncbi.nlm.nih.gov/pubmed/10879718", "http://www.ncbi.nlm.nih.gov/pubmed/20051747", "http://www.ncbi.nlm.nih.gov/pubmed/26370870", "http://www.ncbi.nlm.nih.gov/pubmed/8748801", "http://www.ncbi.nlm.nih.gov/pubmed/19668044", "http://www.ncbi.nlm.nih.gov/pubmed/15316123", "http://www.ncbi.nlm.nih.gov/pubmed/24842523", "http://www.ncbi.nlm.nih.gov/pubmed/26008686", "http://www.ncbi.nlm.nih.gov/pubmed/23932725", "http://www.ncbi.nlm.nih.gov/pubmed/23569451", "http://www.ncbi.nlm.nih.gov/pubmed/24891867", "http://www.ncbi.nlm.nih.gov/pubmed/18056506" ]

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[ "Yes. CRISPR inversion of CTCF sites alters genome topology." ]

[ "yes" ]

[ "CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function", "To test the functional significance of this observation, we combined CRISPR/Cas9-based genomic-DNA-fragment editing with chromosome-conformation-capture experiments to show that the location and relative orientations of CBSs determine the specificity of long-range chromatin looping in mammalian genomes, using protocadherin (Pcdh) and β-globin as model genes. Inversion of CBS elements within the Pcdh enhancer reconfigures the topology of chromatin loops between the distal enhancer and target promoters and alters gene-expression patterns. Thus, although enhancers can function in an orientation-independent manner in reporter assays, in the native chromosome context, the orientation of at least some enhancers carrying CBSs can determine both the architecture of topological chromatin domains and enhancer/promoter specificity. These findings reveal how 3D chromosome architecture can be encoded by linear genome sequences", "CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function.", "CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26276636" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064113", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064112" ]

[ "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB.", "gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as tfiib.", "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB", "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB. . . . . " ]

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[ "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB.", "Instead, activators physically interacted with the general transcription factor TFIIB when the genes were activated and in a looped configuration." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19602510", "http://www.ncbi.nlm.nih.gov/pubmed/24124207" ]

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[ "The causes of the Koebner phenomenon are:\n1) Lichen sclerosus\n2) Vitiligo\n3) Psoriasis and \n4) Physical stress." ]

[ "Lichen sclerosus", "Vitiligo", "Psoriasis", "Physical stress", "Lichen planus" ]

[ "Lichen sclerosus has been reported at sites of injury as a Koebner phenomenon. ", "Therefore, lower expression of keratinocyte-derived factors, including SCF, in vitiliginous keratinocytes, which could result from keratinocyte apoptosis, might be responsible for passive melanocyte death and may explain the Koebner phenomenon.", "Deprivation of survival factors causes the apoptosis of melanocytes. Vitiligo often develops following physical trauma, even if this is minor. The exact mechanism of the Koebner phenomenon in vitiligo is unclear.", "First described in 1877 as the appearance of psoriatic lesions in the uninvolved skin of psoriatic patients as a consequence of trauma, the Koebner phenomenon has since been described in numerous diseases. ", "The Koebner phenomenon is known to occur (lichen sclerosus occurs in skin already scarred or damaged), so trauma, injury, and sexual abuse have been suggested as possible triggers of symptoms in genetically predisposed people. ", "The triggering role of physical stress is seen in the \"deep Koebner\" phenomenon, which causes inflammation in the synovial membrane and in enthesis, resulting in peripheral arthritis. ", "The triggering role of physical stress is seen in the \"deep Koebner\" phenomenon, which causes inflammation in the synovial membrane and in enthesis, resulting in peripheral arthritis.", "Two patients with unusual skin stimuli causing koebner phenomenon in psoriasis are reported.", "To document the role of striae distensae and striae gravidarum in causing Koebner phenomenon in cases of vitiligo, psoriasis and lichen planus.", "In addition, psoriasis can be caused by a local cutaneus trauma, known as Koebner phenomenon.", "Striae are documented to cause Koebner phenomenon in patients with preexisting vitiligo, psoriasis and lichen planus, the three conditions where 'true kobenerisation' has been suggested according to Boyd and Nelder classification.", "[Unusual Koebner phenomenon in psoriasis caused by varicella and UVB].", "A 48 year-old woman developed an exacerbation of a latent psoriasis as a Koebner phenomenon in a migrating erythema caused by Borrelia afzelii infection.", "[Psoriasis as Koebner phenomenon in erythma migrans].", "[Characteristics of the Koebner phenomenon in patients with psoriasis vulgaris].", "Vitiligo appearing in striae distensae as a Koebner phenomenon.", "The appearance of vitiligo in striae distensae as a form of Koebner phenomenon has been reported rarely.", "The Koebner phenomenon originally described the appearance of psoriatic lesions in the uninvolved skin of patients with psoriasis as a consequence of trauma.", "The triggering role of physical stress is seen in the \"deep Koebner\" phenomenon, which causes inflammation in the synovial membrane and in enthesis, resulting in peripheral arthritis", "To document the role of striae distensae and striae gravidarum in causing Koebner phenomenon in cases of vitiligo, psoriasis and lichen planus.Striae are documented to cause Koebner phenomenon in patients with preexisting vitiligo, psoriasis and lichen planus, the three conditions where true kobenerisation has been suggested according to Boyd and Nelder classification.Striae distensae and striae gravidarum are examples of blunt trauma", "[Unusual Koebner phenomenon in psoriasis caused by varicella and UVB]", "A 48 year-old woman developed an exacerbation of a latent psoriasis as a Koebner phenomenon in a migrating erythema caused by Borrelia afzelii infection", "Intradermal antigen tests and the Koebner phenomenon in psoriasis", "In addition, intensity of delayed hypersensitivity reaction and resolution times demonstrate no significant difference between psoriatic and nonpsoriatic subjects statistically (P > 0.05).These findings may indicate that intradermal antigens used in this study were more effective in inducing the Koebner phenomenon than injury alone", "RESULTS: Striae are documented to cause Koebner phenomenon in patients with preexisting vitiligo, psoriasis and lichen planus, the three conditions where 'true kobenerisation' has been suggested according to Boyd and Nelder classification. ", "According to the presence of Koebner phenomenon they were divided in two groups, one with positive and the other with negative Koebner phenomenon which presented the control group at the same time.RESULTS AND DISCUSSION: The Koebner reaction is often thought to be more frequent in actively spreading, severe psoriasis.", "We describe a case of concurrent lichen planus and sarcoidosis in the auditory canal, which represents an unusual manifestation of the Koebner phenomenon.", "According to the presence of Koebner phenomenon they were divided into two groups, 20 patients with positive and 40 patients with negative Koebner reaction, who were the control group at the same time.RESULTS AND DISCUSSION: 95% of patients treated with PUVA, were cleared of psoriatic changes in the Koebner positive, as well as in the Koebner negative group.", "Striae are documented to cause Koebner phenomenon in patients with preexisting vitiligo, psoriasis and lichen planus, the three conditions where 'true kobenerisation' has been suggested according to Boyd and Nelder classification." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24011283", "http://www.ncbi.nlm.nih.gov/pubmed/12195563", "http://www.ncbi.nlm.nih.gov/pubmed/10348006", "http://www.ncbi.nlm.nih.gov/pubmed/10884082", "http://www.ncbi.nlm.nih.gov/pubmed/10884083", "http://www.ncbi.nlm.nih.gov/pubmed/18499373", "http://www.ncbi.nlm.nih.gov/pubmed/16476320", "http://www.ncbi.nlm.nih.gov/pubmed/15893715", "http://www.ncbi.nlm.nih.gov/pubmed/19894099", "http://www.ncbi.nlm.nih.gov/pubmed/8507375", "http://www.ncbi.nlm.nih.gov/pubmed/23302147", "http://www.ncbi.nlm.nih.gov/pubmed/26131802", "http://www.ncbi.nlm.nih.gov/pubmed/15683664", "http://www.ncbi.nlm.nih.gov/pubmed/8056902", "http://www.ncbi.nlm.nih.gov/pubmed/12634998", "http://www.ncbi.nlm.nih.gov/pubmed/12444521", "http://www.ncbi.nlm.nih.gov/pubmed/21396563", "http://www.ncbi.nlm.nih.gov/pubmed/1702353", "http://www.ncbi.nlm.nih.gov/pubmed/9169322", "http://www.ncbi.nlm.nih.gov/pubmed/10748764", "http://www.ncbi.nlm.nih.gov/pubmed/11089373", "http://www.ncbi.nlm.nih.gov/pubmed/19489859", "http://www.ncbi.nlm.nih.gov/pubmed/27106503", "http://www.ncbi.nlm.nih.gov/pubmed/15854039", "http://www.ncbi.nlm.nih.gov/pubmed/20042161", "http://www.ncbi.nlm.nih.gov/pubmed/2102235", "http://www.ncbi.nlm.nih.gov/pubmed/21715249", "http://www.ncbi.nlm.nih.gov/pubmed/23588149", "http://www.ncbi.nlm.nih.gov/pubmed/25046469", "http://www.ncbi.nlm.nih.gov/pubmed/26557075", "http://www.ncbi.nlm.nih.gov/pubmed/8175343", "http://www.ncbi.nlm.nih.gov/pubmed/17656943", "http://www.ncbi.nlm.nih.gov/pubmed/11056428", "http://www.ncbi.nlm.nih.gov/pubmed/9173061" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:12306", "http://www.disease-ontology.org/api/metadata/DOID:9201", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014820", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011565", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008010" ]