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HiTZ zentroa 57

[ "Crystallographic analysis classifies CIP-boxes into two related groups that target different sites on Ctf4. Mutations in the CIP-box motifs of the Dna2 nuclease or the rDNA-associated protein Tof2 do not perturb DNA synthesis genome-wide, but instead lead to a dramatic shortening of chromosome 12 that contains the large array of rDNA repeats. Data reveal unexpected complexity of Ctf4 function, as a hub that connects multiple accessory factors to the replisome. Most strikingly, Ctf4-dependent recruitment of CIP-box proteins couples other processes to DNA synthesis, including rDNA copy-number regulation." ]

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[ " Here, we identify new Ctf4 partners in addition to Pol α and helicase, all of which contain a \"Ctf4-interacting-peptide\" or CIP-box. Crystallographic analysis classifies CIP-boxes into two related groups that target different sites on Ctf4. Mutations in the CIP-box motifs of the Dna2 nuclease or the rDNA-associated protein Tof2 do not perturb DNA synthesis genome-wide, but instead lead to a dramatic shortening of chromosome 12 that contains the large array of rDNA repeats. Our data reveal unexpected complexity of Ctf4 function, as a hub that connects multiple accessory factors to the replisome. Most strikingly, Ctf4-dependent recruitment of CIP-box proteins couples other processes to DNA synthesis, including rDNA copy-number regulation", "Mutations in the CIP-box motifs of the Dna2 nuclease or the rDNA-associated protein Tof2 do not perturb DNA synthesis genome-wide, but instead lead to a dramatic shortening of chromosome 12 that contains the large array of rDNA repeats.", "Mutations in the CIP-box motifs of the Dna2 nuclease or the rDNA-associated protein Tof2 do not perturb DNA synthesis genome-wide, but instead lead to a dramatic shortening of chromosome 12 that contains the large array of rDNA repeats." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27397685" ]

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[ "http://www.biosemantics.org/jochem#4264134", "http://www.biosemantics.org/jochem#4265011" ]

[ "The Bluetongue virus (BTV) genome contains ten double-stranded RNA segments.", "Bluetongue virus (BTV) genome contains ten double-stranded RNA segments. ", "Bluetongue virus (BTV) genome contains ten double-stranded RNA segments.", "Bluetongue virus (BTV) genome contains ten double-stranded RNA segments", "bluetongue virus (btv) genome contains ten double-stranded rna segments." ]

[ "double stranded, segmented RNA" ]

[ "Bluetongue virus (BTV) genome contains ten double-stranded RNA segments" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22549161" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0042776", "o": "http://linkedlifedata.com/resource/umls/label/A0491591" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0491591", "o": "virus" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0319157", "o": "virus" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0042776", "o": "Viruses" } ]

[ "http://www.disease-ontology.org/api/metadata/DOID:1301", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012330", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001820", "http://www.disease-ontology.org/api/metadata/DOID:0050498" ]

[ "The term \"chemobrain\" is sometimes used to denote deficits in neuropsychological functioning that may occur as a result of cancer treatment." ]

[ "The term \"chemobrain\" is sometimes used to denote deficits in neuropsychological functioning that may occur as a result of cancer treatment." ]

[ "Frequency of chemotherapy-related cognitive impairment or \"chemobrain\" is mentioned to be significant in literature, although very little is known about the chemotherapy-caused chemobrain and its connection with metal homeostasis alteration.", "Cognitive decline or dementia is a debilitating problem of neurological disorders such as Alzheimer's and Parkinson's disease, including special conditions like chemobrain. ", "Most cancer patients treated with systemic adjuvant chemotherapy endure long-lasting side effects including decrease in concentration, forgetfulness and slower thinking, which are globally termed \"chemobrain.\" ", "The frequent use of chemotherapy to combat a range of malignancies can elicit severe cognitive dysfunction often referred to as \"chemobrain,\" a condition that can persist long after the cessation of treatment in as many as 75% of survivors.", "The term \"chemobrain\" is sometimes used to denote deficits in neuropsychological functioning that may occur as a result of cancer treatment. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25176562", "http://www.ncbi.nlm.nih.gov/pubmed/26653737", "http://www.ncbi.nlm.nih.gov/pubmed/25687405", "http://www.ncbi.nlm.nih.gov/pubmed/27041861", "http://www.ncbi.nlm.nih.gov/pubmed/27709283" ]

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[ "Borden classification systems is used for the prediction of clinical behavior of cranial dural arteriovenous fistulas." ]

[ "cranial dural arteriovenous fistula", "DAVF" ]

[ "The locations of DAVFs were the transverse-sigmoid sinus in 11, tentorium in 10, cranial vault in 9, and superior sagittal sinus, jugular bulb, foramen magnum, and middle cranial fossa in 1 each. Borden classification was type I in 7, type II in 3, and type III in 24.", "Transarterial glue embolization is highly effective for Borden type III DAVF with direct cortical venous drainage, but has limitations for Borden type I and II DAVFs in which the affected sinus is part of the normal venous circulation.", "The results of subtype (Borden and Cognard classification), venous reflux and fistula sites were also accurately exhibited in 4D-CTA.", "The commonly used Borden and Cognard classification systems for the prediction of clinical behavior of cranial dural arteriovenous shunts focus on the venous drainage, particularly the presence of leptomeningeal venous drainage, and on the direction of flow, particularly the presence of retrograde flow. ", "The CS DAVFs and the NCS DAVFs were categorized using the Barrow and Borden classification systems, respectively. ", "The two most commonly used and clinically accepted DAVF classifications are the Merland-Cognard classification and the Borden classification, both based on the morphology of the venous drainage.", "When analyzed according to the Borden classification, none (0%) of 55 Type I intracranial dural AVFs, two (11%) of 18 Type II, and 14 (48%) of 29 Type III intracranial dural AVFs presented with hemorrhage (p < 0.0001).", "The configuration of venous anatomy as reflected by both the Cognard and Borden classifications strongly predicts intracranial dural AVFs that will present with ICH or nonhemorrhagic neurological deficit.", "The two most commonly used and clinically accepted DAVF classifications are the Merland-Cognard classification and the Borden classification, both based on the morphology of the venous drainage", "The commonly used Borden and Cognard classification systems for the prediction of clinical behavior of cranial dural arteriovenous shunts focus on the venous drainage, particularly the presence of leptomeningeal venous drainage, and on the direction of flow, particularly the presence of retrograde flow", "When analyzed according to the Borden classification, none (0%) of 55 Type I intracranial dural AVFs, two (11%) of 18 Type II, and 14 (48%) of 29 Type III intracranial dural AVFs presented with hemorrhage (p &lt; 0.0001)", "Borden classification showed Type III in 1 and Type II in 10 ncsDAVFs, and Type II in 4 and Type I in 6 csDAVFs", "The recently proposed classification scheme of Borden, Wu, and Shucart (Borden(*)) should have the ability to identify those intracranial dural arteriovenous fistulae (ICDAVF) which will continue to behave in a benign fashion", "The two most commonly used and clinically accepted DAVF classifications are the Merland-Cognard classification and the Borden classification, both based on the morphology of the venous drainage.", "The CS DAVFs and the NCS DAVFs were categorized using the Barrow and Borden classification systems, respectively.", "A multivariate logistic regression model showed that intracranial hemorrhage in patients with DAVFs was correlated with higher Borden classification (OR 5.880; 95% CI, 3.370-10.257; p<0.001).", "The configuration of venous anatomy as reflected by both the Cognard and Borden classifications strongly predicts intracranial dural AVFs that will present with ICH or nonhemorrhagic neurological deficit..", "Borden classification showed Type III in 1 and Type II in 10 ncsDAVFs, and Type II in 4 and Type I in 6 csDAVFs." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22107858", "http://www.ncbi.nlm.nih.gov/pubmed/20678361", "http://www.ncbi.nlm.nih.gov/pubmed/20678360", "http://www.ncbi.nlm.nih.gov/pubmed/22374275", "http://www.ncbi.nlm.nih.gov/pubmed/20849795", "http://www.ncbi.nlm.nih.gov/pubmed/23570149", "http://www.ncbi.nlm.nih.gov/pubmed/25479123", "http://www.ncbi.nlm.nih.gov/pubmed/23811958", "http://www.ncbi.nlm.nih.gov/pubmed/20966056", "http://www.ncbi.nlm.nih.gov/pubmed/26120845", "http://www.ncbi.nlm.nih.gov/pubmed/23582488", "http://www.ncbi.nlm.nih.gov/pubmed/25516093", "http://www.ncbi.nlm.nih.gov/pubmed/25746311", "http://www.ncbi.nlm.nih.gov/pubmed/25354667", "http://www.ncbi.nlm.nih.gov/pubmed/15842944", "http://www.ncbi.nlm.nih.gov/pubmed/26246101", "http://www.ncbi.nlm.nih.gov/pubmed/8893721", "http://www.ncbi.nlm.nih.gov/pubmed/20176602", "http://www.ncbi.nlm.nih.gov/pubmed/16286391", "http://www.ncbi.nlm.nih.gov/pubmed/19408992" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002965", "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" ]

[ "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes. Here, we present cross-organismic evidence suggesting that most EP pairs are compatible, largely determined by physical proximity rather than specific interactions. we find that the transcription of gene neighbors is correlated over distances that scale with genome size. We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation. ", "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes Here, we present cross-organismic evidence suggesting that most EP pairs are compatible, largely determined by physical proximity rather than specific interactions.", " we propose that enhancer sharing is commonplace among eukaryotes, and that ep distance is an important layer of information in gene regulation.", "Enhancers physically interact with transcriptional promoters, looping over distances that can span multiple regulatory elements. We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.", "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes", "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation." ]

[ "the sharing of enhancer elements", "enhancer sharing" ]

[ "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes", "Here, we present cross-organismic evidence suggesting that most EP pairs are compatible, largely determined by physical proximity rather than specific interactions.", "we find that the transcription of gene neighbors is correlated over distances that scale with genome size. ", " We propose that enhancer sharing is commonplace among eukaryotes, and that EP distance is an important layer of information in gene regulation.", "This is especially true in mammalian systems, where regulation often occurs through long-range enhancers in gene-rich neighborhoods, rather than proximal promoters, preventing straightforward assignment of a binding site to a target gene.We present EMBER (Expectation Maximization of Binding and Expression pRofiles), a method that integrates high-throughput binding data (e.g. ChIP-chip or ChIP-seq) with gene expression data (e.g. DNA microarray) via an unsupervised machine learning algorithm for inferring the gene targets of sets of TF binding sites", "Enhancer Sharing Promotes Neighborhoods of Transcriptional Regulation Across Eukaryotes.", "One of the dogmas of transcriptional regulation in higher eukaryotes suggests the existence of transcriptional domains with no promoter-enhancer interactions between them." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22084256", "http://www.ncbi.nlm.nih.gov/pubmed/27799341", "http://www.ncbi.nlm.nih.gov/pubmed/17025153" ]

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[ "No. Pfh1 Is an Accessory Replicative Helicase that Interacts with the Replisome to Facilitate Fork Progression and Preserve Genome Integrity. DNA replication through hard-to-replicate sites, including both highly transcribed RNA Pol II and Pol III genes, requires the S. pombe Pfh1 helicase." ]

[ "no" ]

[ "Pfh1 Is an Accessory Replicative Helicase that Interacts with the Replisome to Facilitate Fork Progression and Preserve Genome Integrity", "Although the Schizosaccharomyces pombe 5'-to-3' DNA helicase Pfh1 is known to promote fork progression, its genomic targets, dynamics, and mechanisms of action are largely unknown. Here we address these questions by integrating genome-wide identification of Pfh1 binding sites, comprehensive analysis of the effects of Pfh1 depletion on replication and DNA damage, and proteomic analysis of Pfh1 interaction partners by immunoaffinity purification mass spectrometry.", "DNA replication through hard-to-replicate sites, including both highly transcribed RNA Pol II and Pol III genes, requires the S. pombe Pfh1 helicase.", "Here, we show that Pfh1 is required for efficient fork movement in the ribosomal DNA, the mating type locus, tRNA, 5S ribosomal RNA genes, and genes that are highly transcribed by RNA polymerase II. ", " Thus, Pfh1 promotes DNA replication and separation of converged replication forks and suppresses DNA damage at hard-to-replicate sites.", "Cells depleted of Pfh1 were inviable if they also lacked the human TIMELESS homolog Swi1, a replisome component that stabilizes stalled forks.", "Pfh1 Is an Accessory Replicative Helicase that Interacts with the Replisome to Facilitate Fork Progression and Preserve Genome Integrity.", "Thus, we conclude that Pfh1 is an accessory DNA helicase that interacts with the replisome and promotes replication and suppresses DNA damage at hard-to-replicate sites.", "Consistent with this interpretation, Pfh1 co-purified with many key replisome components, including the hexameric MCM helicase, replicative DNA polymerases, RPA, and the processivity clamp PCNA in an S phase dependent manner.", "Although Pfh1 affected replication and suppressed DNA damage at discrete sites throughout the genome, Pfh1 and the replicative DNA polymerase bound to similar extents to both Pfh1-dependent and independent sites, suggesting that Pfh1 is proximal to the replication machinery during S phase.", "Cells depleted of Pfh1 were inviable if they also lacked the human TIMELESS homolog Swi1, a replisome component that stabilizes stalled forks", "Here, we show that Pfh1 is required for efficient fork movement in the ribosomal DNA, the mating type locus, tRNA, 5S ribosomal RNA genes, and genes that are highly transcribed by RNA polymerase II", "Thus, Pfh1 promotes DNA replication and separation of converged replication forks and suppresses DNA damage at hard-to-replicate sites", "Cells depleted of Pfh1 were inviable if they also lacked the human TIMELESS homolog Swi1, a replisome component that stabilizes stalled forks.", "Thus, we conclude that Pfh1 is an accessory DNA helicase that interacts with the replisome and promotes replication and suppresses DNA damage at hard-to-replicate sites.", "Consistent with this interpretation, Pfh1 co-purified with many key replisome components, including the hexameric MCM helicase, replicative DNA polymerases, RPA, and the processivity clamp PCNA in an S phase dependent manner.", "Pfh1 Is an Accessory Replicative Helicase that Interacts with the Replisome to Facilitate Fork Progression and Preserve Genome Integrity." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22426534", "http://www.ncbi.nlm.nih.gov/pubmed/27611590" ]

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[ "The mTOR protein regulates assembly of the translation initiation machinery and are master regulators of cellular survival, growth and metabolism." ]

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[ "Protein synthesis regulation via mammalian target of rapamycin complex 1 (mTORC1) signaling pathway has key roles in neural development and function,", "mTOR regulates assembly of the translation initiation machinery by interacting with the eukaryotic initiation factor eIF3 complex and by controlling phosphorylation of key translational regulators", "Mammalian target of rapamycin (mTOR) complexes, mTORC1 and mTORC2, are master regulators of cellular survival, growth and metabolism", " (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons.", "mammalian target of rapamycin (mTOR), a member of the phosphoinositide 3-kinase related kinase (PIKK) family, plays a central role in the regulation of cell growth", "(mTOR) is a serine/threonine kinase and that forms two multiprotein complexes known as the mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). mTOR regulates cell growth, proliferation and survival", "(mTOR), a downstream effector of the phosphatidylinositol 3-kinase (PI3K)/Akt (protein kinase B) signaling pathway that mediates cell survival and proliferation," ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21871173", "http://www.ncbi.nlm.nih.gov/pubmed/12864941", "http://www.ncbi.nlm.nih.gov/pubmed/27889578", "http://www.ncbi.nlm.nih.gov/pubmed/25898924", "http://www.ncbi.nlm.nih.gov/pubmed/25893295" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0065009" ]

[ "Valbenazine granted breakthrough drug status for treating tardive dyskinesia." ]

[ "Valbenazine granted breakthrough drug status for treating tardive dyskinesia." ]

[ "VMAT2 inhibitors (e.g. deutetrabenazine and valbenazine) have been studied in the treatment of HD-related chorea, tardive dyskinesia and tics associated with Tourette syndrome.", "Valbenazine granted breakthrough drug status for treating tardive dyskinesia.", "The FDA lowered approval hurdles for valbenazine due to a successful Phase II trial, which showed a distinctive improvement in tardive dyskinesia symptoms during valbenazine administration. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25809133", "http://www.ncbi.nlm.nih.gov/pubmed/27819145" ]

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[ "Clinical features of the Kaufman Oculocerebrofacial Syndrome include hypotonia, developmental delay, intellectual disability, low cholesterol levels, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet." ]

[ "hypotonia", "developmental delay", "intellectual disability", "low cholesterol levels", "microcephaly", "long narrow face", "ocular anomalies", "long thin hands and feet" ]

[ "A pair of sisters was ascertained for multiple congenital defects, including marked craniofacial dysmorphisms with blepharophimosis, and severe psychomotor delay. ", "Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. ", "Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels.", "BACKGROUND: Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. ", "Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. ", "Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. ", "Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia.", "Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels", "Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia", "Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet", "Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8275567", "http://www.ncbi.nlm.nih.gov/pubmed/23687348", "http://www.ncbi.nlm.nih.gov/pubmed/7573151", "http://www.ncbi.nlm.nih.gov/pubmed/24615390", "http://www.ncbi.nlm.nih.gov/pubmed/25691420", "http://www.ncbi.nlm.nih.gov/pubmed/25792360" ]

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[]

[ "The DNA double-strand break signaling kinase ATM and its cofactor NBS1 are required during T cell development and for the maintenance of genomic stability. The role of a second ATM cofactor, ATMIN (also known as ASCIZ) in T cells is much less clear, and whether ATMIN and NBS1 function in synergy in T cells is unknown.", "The DNA Repair Cofactors ATMIN and NBS1 are required to suppress T Cell activation. Loss of NBS1 led to a developmental block at the double-positive stage of T cell development, as well as reduced TCRα recombination, that was unexpectedly neither exacerbated nor alleviated by concomitant loss of ATMIN. In contrast, loss of both ATMIN and NBS1 enhanced DNA damage that drove spontaneous peripheral T cell hyperactivation, proliferation as well as excessive production of proinflammatory cytokines and chemokines, leading to a highly inflammatory environment. Intriguingly, the disease causing T cells were largely proficient for both ATMIN and NBS1. In vivo this resulted in severe intestinal inflammation, colitis and premature death." ]

[ "Suppresion of T Cell Activation." ]

[ "DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.", "Here, we investigate the roles of ATMIN and NBS1, either alone or in combination, using murine models. We show loss of NBS1 led to a developmental block at the double-positive stage of T cell development, as well as reduced TCRα recombination, that was unexpectedly neither exacerbated nor alleviated by concomitant loss of ATMIN. In contrast, loss of both ATMIN and NBS1 enhanced DNA damage that drove spontaneous peripheral T cell hyperactivation, proliferation as well as excessive production of proinflammatory cytokines and chemokines, leading to a highly inflammatory environment. Intriguingly, the disease causing T cells were largely proficient for both ATMIN and NBS1. In vivo this resulted in severe intestinal inflammation, colitis and premature death. Our findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1.", "Our findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1.", "In contrast, loss of both ATMIN and NBS1 enhanced DNA damage that drove spontaneous peripheral T cell hyperactivation, proliferation as well as excessive production of proinflammatory cytokines and chemokines, leading to a highly inflammatory environment.", "DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation", "Our findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1", "Our findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1.", "In contrast, loss of both ATMIN and NBS1 enhanced DNA damage that drove spontaneous peripheral T cell hyperactivation, proliferation as well as excessive production of proinflammatory cytokines and chemokines, leading to a highly inflammatory environment.", "We show loss of NBS1 led to a developmental block at the double-positive stage of T cell development, as well as reduced TCRα recombination, that was unexpectedly neither exacerbated nor alleviated by concomitant loss of ATMIN.", "DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26544571" ]

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[ "http://www.uniprot.org/uniprot/NBS1_SCHPO", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004260", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045643", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053843", "http://www.uniprot.org/uniprot/NBS1_ARATH" ]

[ "The MMR vaccine provides immunity to measles, mumps and rubella.", " measles, mumps and rubella (mmr) vaccine ." ]

[ "Measles", "Mumps", "Rubella" ]

[ " measles, mumps and rubella (MMR) vaccine ", "Measles, mumps, rubella (MMR) vaccine is a live vaccine preparation containing attenuated strains of all 3 viruses." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7686463", "http://www.ncbi.nlm.nih.gov/pubmed/26265115" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0065828", "o": "http://linkedlifedata.com/resource/umls/label/A18558018" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18558018", "o": "mmr vaccine" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012411", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012412", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008458", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D022542", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009109", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009108", "http://www.disease-ontology.org/api/metadata/DOID:934" ]

[ "Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenal insufficiency." ]

[ "achalasia", "alacrima", "adrenal insufficiency" ]

[ "UNLABELLED: Triple A syndrome (alacrima, achalasia, adrenal failure, progressive neurodegenerative disease) is caused by mutations in the AAAS gene which encodes the protein alacrima achalasia adrenal insufficiency neurologic disorder (ALADIN).", "Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity.", "BACKGROUND: Oesophageal achalasia is well-recognized but relatively rare in children, occasionally appearing as the \"triple A\" syndrome (with adrenal insufficiency and alacrima).", "Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. ", "Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia.", "Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by three cardinal symptoms: adrenal insufficiency due to ACTH insensitivity, achalasia and alacrima.", "Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26354489", "http://www.ncbi.nlm.nih.gov/pubmed/27411173", "http://www.ncbi.nlm.nih.gov/pubmed/27385299", "http://www.ncbi.nlm.nih.gov/pubmed/16938764", "http://www.ncbi.nlm.nih.gov/pubmed/20200814", "http://www.ncbi.nlm.nih.gov/pubmed/12752575", "http://www.ncbi.nlm.nih.gov/pubmed/11196451", "http://www.ncbi.nlm.nih.gov/pubmed/12429595", "http://www.ncbi.nlm.nih.gov/pubmed/17880786", "http://www.ncbi.nlm.nih.gov/pubmed/15217518", "http://www.ncbi.nlm.nih.gov/pubmed/27555148", "http://www.ncbi.nlm.nih.gov/pubmed/27698338", "http://www.ncbi.nlm.nih.gov/pubmed/22538409", "http://www.ncbi.nlm.nih.gov/pubmed/20687490", "http://www.ncbi.nlm.nih.gov/pubmed/21656342", "http://www.ncbi.nlm.nih.gov/pubmed/26243364" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:0050602" ]

[ "Basset is an open source package which applies CNNs to learn the functional activity of DNA sequences from genomics data. Basset was trained on a compendium of accessible genomic sites mapped in 164 cell types by DNase-seq, and demonstrated greater predictive accuracy than previous methods. Basset predictions for the change in accessibility between variant alleles were far greater for Genome-wide association study (GWAS) SNPs that are likely to be causal relative to nearby SNPs in linkage disequilibrium with them. With Basset, a researcher can perform a single sequencing assay in their cell type of interest and simultaneously learn that cell's chromatin accessibility code and annotate every mutation in the genome with its influence on present accessibility and latent potential for accessibility. Thus, Basset offers a powerful computational approach to annotate and interpret the noncoding genome." ]

[]

[ "Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks.", "We introduce the open source package Basset to apply CNNs to learn the functional activity of DNA sequences from genomics data. We trained Basset on a compendium of accessible genomic sites mapped in 164 cell types by DNase-seq, and demonstrate greater predictive accuracy than previous methods. Basset predictions for the change in accessibility between variant alleles were far greater for Genome-wide association study (GWAS) SNPs that are likely to be causal relative to nearby SNPs in linkage disequilibrium with them. With Basset, a researcher can perform a single sequencing assay in their cell type of interest and simultaneously learn that cell's chromatin accessibility code and annotate every mutation in the genome with its influence on present accessibility and latent potential for accessibility. Thus, Basset offers a powerful computational approach to annotate and interpret the noncoding genome.", "Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27197224" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000069553", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000069550" ]

[ "No, the ARG gene encodes for a nonreceptor tyrosine kinase." ]

[ "no" ]

[ "One isoform of Arg/Abl2 tyrosine kinase is nuclear and the other seven cytosolic isoforms differently modulate cell morphology, motility and the cytoskeleton.", "The non-receptor tyrosine kinase Abelson related gene (Arg/Abl2) regulates cell migration and morphogenesis by modulating the cytoskeleton. ", "The human Arg (Abl2) nonreceptor tyrosine kinase has a role in cytoskeletal rearrangements by its C-terminal F-actin- and microtubule-binding sequences. ", "The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts.", " The ARG gene encodes for a nonreceptor tyrosine kinase characterized by high homology with c-Abl in the TK, SH2, and SH3 domains. This is the first report on ARG involvement in a human malignancy.", "Ultraviolet-A and -B differentially modify the tyrosine-kinase profile of human keratinocytes and induce the expression of Arg+.", "Arg (Abelson-related gene, Abl2) was the PTK with the highest prevalence (30% of all PTKs) and UVA led to a further induction of Arg expression reaching nine-fold mRNA baseline expression at 17 h after irradiation.", "To investigate the expression profile of protein tyrosine kinases (PTKs) in normal human epidermal keratinocytes (NHEK) in response to UVA and UVB we employed a reversed transcriptase polymerase chain reaction (PCR) approach using degenerate primers derived from the conserved catalytic domain of PTKs. ", "By 3'rapid amplification of cDNA ends-polymerase chain reaction (3'RACE-PCR), a novel fusion transcript was identified between the ETV6 and the Abelson-related gene (ARG) at 1q25, resulting in a chimeric protein consisting of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase (PTK) domains of ARG.", "The non-receptor tyrosine kinase Abelson related gene (Arg/Abl2) regulates cell migration and morphogenesis by modulating the cytoskeleton.", "Arg (Abelson-related gene, Abl2) was the PTK with the highest prevalence (30% of all PTKs) and UVA led to a further induction of Arg expression reaching nine-fold mRNA baseline expression at 17 h after irradiation.", "We studied the relationship of direct karyotypes, determined at diagnosis and remission, to Abelson-related tyrosine kinase activity and the cytogenetic features of erythroid and myeloid colonies derived from remission marrow of six children with acute lymphoblastic leukemia (ALL).", "ABL2/ARG (ABL-related gene) belongs to the ABL (Abelson tyrosine-protein kinase) family of tyrosine kinases", "The non-receptor tyrosine kinase Abelson related gene (Arg/Abl2) regulates cell migration and morphogenesis by modulating the cytoskeleton", "The ARG gene encodes for a nonreceptor tyrosine kinase characterized by high homology with c-Abl in the TK, SH2, and SH3 domains.", "ABL2/ARG (ABL-related gene) belongs to the ABL (Abelson tyrosine-protein kinase) family of tyrosine kinases.", "We report that the Abelson (Abl) and Abl-related gene (Arg) nonreceptor tyrosine kinases are required for maintenance of cortical dendrites in the mouse brain.", "The products of the human ARG gene and the human ABL gene characterize the Abelson family of non-receptor tyrosine protein kinases.", "The products of the human Arg gene and human, mouse, Drosophila, and nematode Abl genes characterize the Abelson family of nonreceptor tyrosine protein kinase.", "By 3'rapid amplification of cDNA ends-polymerase chain reaction (3'RACE-PCR), a novel fusion transcript was identified between the ETV6 and the Abelson-related gene (ARG) at 1q25, resulting in a chimeric protein consisting of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase (PTK) domains of ARG.", "The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18411439", "http://www.ncbi.nlm.nih.gov/pubmed/25849507", "http://www.ncbi.nlm.nih.gov/pubmed/15987940", "http://www.ncbi.nlm.nih.gov/pubmed/12220663", "http://www.ncbi.nlm.nih.gov/pubmed/1923513", "http://www.ncbi.nlm.nih.gov/pubmed/23707396", "http://www.ncbi.nlm.nih.gov/pubmed/2649173", "http://www.ncbi.nlm.nih.gov/pubmed/15765532", "http://www.ncbi.nlm.nih.gov/pubmed/18810762", "http://www.ncbi.nlm.nih.gov/pubmed/12821941", "http://www.ncbi.nlm.nih.gov/pubmed/19563810", "http://www.ncbi.nlm.nih.gov/pubmed/9828110", "http://www.ncbi.nlm.nih.gov/pubmed/10590083" ]

[]

[ "http://www.uniprot.org/uniprot/ABL2_HUMAN", "http://www.uniprot.org/uniprot/ABL2_MOUSE" ]

[ "Francisella tularensis, the agent of tularemia, is a Gram-negative coccobacillus primarily pathogen for animals and occasionally for humans. F. tularensis is the causative agent of zoonotic tularemia. ", "francisella tularensis, the agent of tularemia, is a gram-negative coccobacillus primarily pathogen for animals and occasionally for humans.", "Francisella tularensis, the agent of tularemia, is a Gram-negative coccobacillus primarily pathogen for animals and occasionally for humans. ", "Francisella tularensis, the agent of tularemia, is a Gram-negative coccobacillus primarily pathogen for animals and occasionally for humans." ]

[ "Francisella tularensis" ]

[ "Francisella tularensis, the agent of tularemia, is a Gram-negative coccobacillus primarily pathogen for animals and occasionally for humans. ", "F. tularensis is the causative agent of zoonotic tularemia", "Tularemia is a zoonosis caused by Francisella tularensis that can be transmitted by several ways to human being and cause different clinical manifestations", "Tularemia is a bacterial zoonotic disease that is caused by Francisella tularensis and among the infectious reasons that cause fever of unknown origin (FUO) in children", "The bacterium Francisella tularensis causes the vector-borne zoonotic disease tularemia, and may infect a wide range of hosts including invertebrates, mammals and birds", "Francisella tularensis, the Gram-negative bacterium that causes tularemia, is considered a potential bioterrorism threat due to its low infectivity dose and the high morbidity and mortality from respiratory disease", "Francisella tularensis causes disease (tularemia) in a large number of mammals, including man", "The tularemia-causing bacterium Francisella tularensis is a facultative intracellular organism with a complex intracellular lifecycle that ensures its survival and proliferation in a variety of mammalian cell types, including professional phagocytes.", "Francisella tularensis is a highly virulent bacterium that causes tularemia, a disease that is often fatal if untreated.", "Tularemia, caused by the gram-negative bacterium Francisella tularensis, is a severe, sometimes fatal disease.", "Tularemia, caused by the bacterium Francisella tularensis, where F." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23473220", "http://www.ncbi.nlm.nih.gov/pubmed/21607086", "http://www.ncbi.nlm.nih.gov/pubmed/26189939", "http://www.ncbi.nlm.nih.gov/pubmed/18304778", "http://www.ncbi.nlm.nih.gov/pubmed/21687806", "http://www.ncbi.nlm.nih.gov/pubmed/25494920", "http://www.ncbi.nlm.nih.gov/pubmed/22662210", "http://www.ncbi.nlm.nih.gov/pubmed/25847026", "http://www.ncbi.nlm.nih.gov/pubmed/25266682", "http://www.ncbi.nlm.nih.gov/pubmed/20885922", "http://www.ncbi.nlm.nih.gov/pubmed/26336102", "http://www.ncbi.nlm.nih.gov/pubmed/19863554", "http://www.ncbi.nlm.nih.gov/pubmed/24351753" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "http://www.disease-ontology.org/api/metadata/DOID:14239", "http://www.disease-ontology.org/api/metadata/DOID:13226", "http://www.biosemantics.org/jochem#4244019", "http://www.disease-ontology.org/api/metadata/DOID:2122", "http://www.disease-ontology.org/api/metadata/DOID:2123", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014406", "http://www.disease-ontology.org/api/metadata/DOID:11990", "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=organisms_category" ]

[ "Yes, the marine cyanobacterium Prochlorococcus is the smallest and most abundant photosynthetic organism on Earth." ]

[ "yes" ]

[ "The marine cyanobacterium Prochlorococcus is the smallest and most abundant photosynthetic organism on Earth.", "The marine cyanobacterium Prochlorococcus is the numerically dominant photosynthetic organism in the oligotrophic oceans, and a model system in marine microbial ecology.", "The marine cyanobacterium Prochlorococcus is the most abundant photosynthetic organism in oligotrophic regions of the oceans.", "The oceanic picoplankton Prochlorococcus - probably the most abundant photosynthetic organism on our planet - can grow at great depths where light intensity is very low." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25977791", "http://www.ncbi.nlm.nih.gov/pubmed/19549842", "http://www.ncbi.nlm.nih.gov/pubmed/11595938", "http://www.ncbi.nlm.nih.gov/pubmed/25435307" ]

[]

[]

[ "Idiopathic retinal vasculitis, aneurysms, and neuroretinitis is coined as IRVAN syndrome." ]

[ "Idiopathic retinal vasculitis", "Aneurysms", "Neuroretinitis" ]

[ "Fluorescein photodiagnosis of idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: A case report and long-term outcome of photocoagulation therapy.", "Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome is a disease characterized by multiple retinal macroaneurysms, neuroretinitis and peripheral capillary non-perfusion, leading to irreversible visual loss.", "[Early treatment of idiopathic vasculitis, aneurysms and neuroretinitis (IRVAN). A case report].", "CASE REPORT: A 55 year old woman presented with retinal vasculitis, multiple aneurysms, macular exudation and widespread retinal nonperfusion and was diagnosed with IRVAN.", "A 7-year-old girl with IRVAN (idiopathic retinal vasculitis, aneurysms, and neuroretinitis) syndrome was monitored for 9 years.", "Vision loss associated with the idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome most commonly occurs from macular edema or complications related to neovascularization. ", "PURPOSE: To report a case of idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome associated with positive perinuclear antineutrophil cytoplasmic antibody (P-ANCA).", "PURPOSE: We report our experience in treating 2 patients of idiopathic retinal vasculitis, aneurysm, and neuroretinitis (IRVAN) syndrome with antitumor necrosis factor agent, infliximab, who showed a very favorable response to treatment", "Fluorescein angiography delineated saccular aneurysms of the retinal arteriolar vasculature, and IRVAN syndrome was diagnosed.", "The authors describe the clinical feature of ten patients with a new syndrome characterized by the presence of retinal vasculitis, multiple macroaneurysms, neuro-retinitis, and peripheral capillary nonperfusion.The authors evaluated ten patients identified to have clinical features compatible with the syndrome of idiopathic retinal vasculitis, aneurysms and neuroretinits (IRVAN)", "The authors evaluated ten patients identified to have clinical features compatible with the syndrome of idiopathic retinal vasculitis, aneurysms and neuroretinits (IRVAN)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24221466", "http://www.ncbi.nlm.nih.gov/pubmed/22454754", "http://www.ncbi.nlm.nih.gov/pubmed/15348989", "http://www.ncbi.nlm.nih.gov/pubmed/26922651", "http://www.ncbi.nlm.nih.gov/pubmed/9121757", "http://www.ncbi.nlm.nih.gov/pubmed/24766157", "http://www.ncbi.nlm.nih.gov/pubmed/25383801", "http://www.ncbi.nlm.nih.gov/pubmed/25390402", "http://www.ncbi.nlm.nih.gov/pubmed/27491854", "http://www.ncbi.nlm.nih.gov/pubmed/21563921", "http://www.ncbi.nlm.nih.gov/pubmed/12504719", "http://www.ncbi.nlm.nih.gov/pubmed/25802506", "http://www.ncbi.nlm.nih.gov/pubmed/24269400", "http://www.ncbi.nlm.nih.gov/pubmed/27239579" ]

[]

[]

[ "The PCSK9 inhibitors that are FDA approved are:\n1) Alirocumab and \n2) Evolocumab." ]

[ "Alirocumab", "Praluent", "Evolocumab", "Repatha" ]

[ "Inhibition of the PCSK9 protein by monoclonal antibodies results in a dramatic 40%-60% lowering of serum low-density lipoprotein cholesterol (LDL-C). ", "Alirocumab and evolocumab have been approved by the FDA for the treatment of patients with heterozygous familial hypercholesterolemia and patients with clinical atherosclerotic cardiovascular disease) who do not achieve their LDL-C target on maximal tolerated statin treatment and dietary modification. In addition, evolocumab has been approved by the FDA for homozygous familial hypercholesterolemia.", "LDL cholesterol (LDLC) lowering has been revolutionized by PCSK9 inhibitors, Alirocumab (Praluent) and Evolocumab (Repatha), approved as adjuncts to maximally tolerated cholesterol lowering therapy in heterozygous (HeFH) or homozygous (HoFH) familial hypercholesterolemia, and/or clinical atherosclerotic cardiovascular disease (CVD) where LDLC lowering is insufficient.", "A new class of lipid-lowering drugs, inhibitors of PCSK9 has been generating impressive clinical trial data over the last several years, and alirocumab (Praluent) has become the first to be approved by the US FDA.", "The second FDA-approved PCSK9 inhibitor evolocumab (Repatha) appears to be similar in efficacy and safety to alirocumab (Praluent), but no comparative studies are available. ", "Two proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, evolocumab and alirocumab, have recently been approved by both the Food and Drug Administration (FDA) and the European Medicines Agency (EMA) for the treatment of hypercholesterolemia.", "Newer agents for LDL cholesterol reduction include the cholesterol ester transfer protein inhibitors, the microsomal triglyceride transfer protein inhibitor lomitapide, the apolipoprotein B antisense oligonucleotide mipomersen and several molecules that inhibit or interfere with proprotein convertase subtilisin/kexin 9 (PCSK9).Among the various PCSK9 inhibitors, human data are available for monoclonal antibodies against PCSK9 of which the two most advanced are alirocumab (SAR236553/REGN727) and AMG 145", "The 2 or 4‑week subcutaneous therapy with the recently approved antibodies alirocumab and evolocumab for inhibition of proprotein convertase subtilisin-kexin type 9 (PCSK9) reduces low-density lipoprotein cholesterol (LDL-C) in addition to statins and ezetimibe by 50-60 %.", "In 2015 the U.S. Food and Drug Administration approved the first two proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, alirocumab (Praluent®; Sanofi/ Regeneron) and evolocumab (Repatha®; Amgen), for use in patients with heterozygous and homozygous familial hypercholesterolemia and for patients intolerant of statins or those with a major risk of cardiovascular disease (CVD) but unable to lower their LDL cholesterol (LDL-C) to optimal levels with statins and ezetimibe.", "Very recent clinical trials have proven overwhelmingly the effectiveness and safety of PCSK9 inhibitors for lowering LDL-C. Both alirocumab and evolocumab have now been approved by the US FDA and there are some initial favorable outcomes data.", "Food and Drug Administration approved the first two proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, alirocumab (Praluent®; Sanofi/ Regeneron) and evolocumab (Repatha®; Amgen), for use in patients with heterozygous and homozygous familial hypercholesterolemia and for patients intolerant of statins or those with a major risk of cardiovascular disease (CVD) but unable to lower their LDL cholesterol (LDL-C) to optimal levels with statins and ezetimibe." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26548330", "http://www.ncbi.nlm.nih.gov/pubmed/27086681", "http://www.ncbi.nlm.nih.gov/pubmed/26785741", "http://www.ncbi.nlm.nih.gov/pubmed/27533159", "http://www.ncbi.nlm.nih.gov/pubmed/27661220", "http://www.ncbi.nlm.nih.gov/pubmed/26345307", "http://www.ncbi.nlm.nih.gov/pubmed/26445204", "http://www.ncbi.nlm.nih.gov/pubmed/26822080", "http://www.ncbi.nlm.nih.gov/pubmed/26798848", "http://www.ncbi.nlm.nih.gov/pubmed/27567901", "http://www.ncbi.nlm.nih.gov/pubmed/26652782", "http://www.ncbi.nlm.nih.gov/pubmed/26886466", "http://www.ncbi.nlm.nih.gov/pubmed/27207595", "http://www.ncbi.nlm.nih.gov/pubmed/26596726", "http://www.ncbi.nlm.nih.gov/pubmed/23889692", "http://www.ncbi.nlm.nih.gov/pubmed/27186592", "http://www.ncbi.nlm.nih.gov/pubmed/26968977" ]

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[ "http://www.uniprot.org/uniprot/PCSK9_MACMU", "http://www.uniprot.org/uniprot/PCSK9_PANTR", "http://www.uniprot.org/uniprot/PCSK9_COLGU", "http://www.uniprot.org/uniprot/PCSK9_CALJA", "http://www.uniprot.org/uniprot/PCSK9_SAGLB", "http://www.uniprot.org/uniprot/PCSK9_PONPY", "http://www.uniprot.org/uniprot/PCSK9_LAGLA", "http://www.uniprot.org/uniprot/PCSK9_MACNE", "http://www.uniprot.org/uniprot/PCSK9_HUMAN", "http://www.uniprot.org/uniprot/PCSK9_ATEGE", "http://www.uniprot.org/uniprot/PCSK9_PANPA", "http://www.uniprot.org/uniprot/PCSK9_PLEMO" ]

[ "No, Dupilumab is a fully human monoclonal antibody directed against the IL-4 receptor α subunit that blocks the signaling of IL-4 and IL-13, both key cytokines in Th2-mediated pathways." ]

[ "no" ]

[ "Atopic dermatitis (AD) is characterized by type 2 helper T (Th2) cell-driven inflammation. Dupilumab is a fully human monoclonal antibody directed against the IL-4 receptor α subunit that blocks the signaling of IL-4 and IL-13, both key cytokines in Th2-mediated pathways.", "Dupilumab, a humanized monoclonal antibody to the interteukin-4R is the first antibody (i.e. 'biological') with published efficacy shown in controlled prospective studies in atopic dermatitis. ", "Dupilumab, a human monoclonal antibody against interleukin-4 receptor alpha, inhibits signaling of interleukin-4 and interleukin-13, type 2 cytokines that may be important drivers of atopic or allergic diseases such as atopic dermatitis.", "Best evidence of the clinical efficacy of novel immunologic approaches using biological agents in patients with AD is available for the anti-IL-4 receptor α-chain antibody dupilumab, but a number of studies are currently ongoing with other specific antagonists to immune system players.", " Dupilumab, a fully human anti-interleukin-4 receptor α monoclonal antibody, inhibits interleukin-4 and interleukin-13 signalling, key drivers of type-2-mediated inflammation. ", "Dupilumab was also introduced as a possible treatment for patients with severe pemphigus. It can directly inhibit IL-4 by targeting IL-4 α-chain receptor.", "We evaluated the efficacy and safety of dupilumab (SAR231893/REGN668), a fully human monoclonal antibody to the alpha subunit of the interleukin-4 receptor" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26440137", "http://www.ncbi.nlm.nih.gov/pubmed/27130691", "http://www.ncbi.nlm.nih.gov/pubmed/27690741", "http://www.ncbi.nlm.nih.gov/pubmed/26598956", "http://www.ncbi.nlm.nih.gov/pubmed/23688323", "http://www.ncbi.nlm.nih.gov/pubmed/27497276", "http://www.ncbi.nlm.nih.gov/pubmed/26308331" ]

[]

[]

[ "Active ingredients of Stribild are elvitegravir, cobicistat, emtricitabine and tenofovir. It is used for treatment of HIV infection." ]

[ "elvitegravir", "cobicistat", "emtricitabine", "tenofovir" ]

[ "PURPOSE: The purpose of this study is to assess postmarketing safety and tolerability of Stribild (elvitegravir [EVG]/cobicistat [COBI]/tenofovir disoproxil fumarate [TDF]/emtricitabine [FTC]).", "INTRODUCTION: Co-formulated elvitegravir, cobicistat, emtricitabine and tenofovir (EVG/COBI/FTC/TDF or Stribild™) is the latest antiretroviral tablet approved in the EU. ", "BACKGROUND: Co-formulated elvitegravir, cobicistat, emtricitabine, and tenofovir disoproxil fumarate (EVG/COBI/FTC/TDF; Stribild(®)) is a guideline-recommended regimen for HIV treatment-naïve patients and a switch option for virologically suppressed patients.", "BACKGROUND: Coformulated elvitegravir, cobicistat, emtricitabine, and tenofovir disoproxil fumarate (EVG/COBI/FTC/TDF; Stribild(®)) is a recommended integrase inhibitor-based regimen in treatment guidelines from the US Department of Health and Human Services and the British HIV Association. ", "Elvitegravir/cobicistat/emtricitabine/tenofovir disoproxil fumarate single-tablet regimen (Stribild®): a review of its use in the management of HIV-1 infection in adults.", "A new single-tablet, fixed-dose formulation consisting of elvitegravir, an HIV-1 integrase strand transfer inhibitor (INSTI); cobicistat, a pharmacokinetic enhancer; emtricitabine, a nucleoside reverse transcriptase inhibitor; and tenofovir disoproxil fumarate (tenofovir DF), a nucleotide reverse transcriptase inhibitor (elvitegravir/cobicistat/emtricitabine/tenofovir DF 150 mg/150 mg/200 mg/300 mg; Stribild®) is available in some countries for the once-daily treatment of HIV-1 infection in antiretroviral therapy-naïve adults. ", "To review the clinical trials, pharmacologic characteristics, safety, and efficacy of the elvitegravir/cobicistat/emtricitabine/tenofovir single tablet formulation (Stribild).Literature searches were performed in MEDLINE (1948-September 2012) and PubMed (1966-September 2012) using the search terms GS-9137, elvitegravir, GS 9350, cobicistat, quad pill, Stribild, and integrase inhibitors.", "To evaluate dolutegravir and elvitegravir/cobicistat pharmacokinetics in HIV-negative volunteers up to 10 days after drug cessation.Healthy volunteers received 50 mg of dolutegravir once-daily for 10 days, then underwent a 9 day wash-out period, and then received elvitegravir/cobicistat as part of Stribild(®) (245 mg of tenofovir, 200 mg of emtricitabine, 150 mg of elvitegravir and 150 mg of cobicistat) for 10 days." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24338165", "http://www.ncbi.nlm.nih.gov/pubmed/25553805", "http://www.ncbi.nlm.nih.gov/pubmed/27225853", "http://www.ncbi.nlm.nih.gov/pubmed/26286337", "http://www.ncbi.nlm.nih.gov/pubmed/23136357", "http://www.ncbi.nlm.nih.gov/pubmed/26045359", "http://www.ncbi.nlm.nih.gov/pubmed/26679246" ]

[]

[]

[ "Clinical features of IMAGe syndrome include intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities. It is s caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5." ]

[ "intra-uterine growth restriction", "metaphyseal dysplasia", "adrenal hypoplasia congenita", "genital abnormalities" ]

[ "Recently, our group described gain-of-function mutations in the PCNA-binding site of CDKN1C that result in an undergrowth syndrome called IMAGe Syndrome (Intrauterine Growth Restriction, Metaphyseal dysplasia, Adrenal hypoplasia, and Genital anomalies), with life-threatening consequences. ", "IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. ", "OBJECTIVE: Arboleda et al. have recently shown that IMAGe (intra-uterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital abnormalities) syndrome is caused by gain-of-function mutations of maternally expressed gene CDKN1C on chromosome 11p15.5. ", "Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies). " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25517553", "http://www.ncbi.nlm.nih.gov/pubmed/25861374", "http://www.ncbi.nlm.nih.gov/pubmed/16835919", "http://www.ncbi.nlm.nih.gov/pubmed/25258553", "http://www.ncbi.nlm.nih.gov/pubmed/22634751", "http://www.ncbi.nlm.nih.gov/pubmed/25541901", "http://www.ncbi.nlm.nih.gov/pubmed/24313804", "http://www.ncbi.nlm.nih.gov/pubmed/24617583", "http://www.ncbi.nlm.nih.gov/pubmed/14760276", "http://www.ncbi.nlm.nih.gov/pubmed/21108398" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:0050885" ]

[ "Μutations in TLR5 and TLR1 genes contribute to differential response to anti-TNF treatment in RA. Variation at FCGR2A and functionally related genes such as DHX32 and RGS12 is also associated with the response to anti-TNF therapy in rheumatoid arthritis." ]

[ "TLR5", "TLR1", "FCGR2A", "DHX32", "RGS12" ]

[ "Genetic Variations in Pattern Recognition Receptor Loci Are Associated with Anti-TNF Response in Patients with Rheumatoid Arthritis", "Six of twenty successfully genotyped polymorphisms were nominally associated with EULAR treatment response. Three of these were in weak to moderate linkage disequilibrium with polymorphisms previously reported associated with anti-TNF treatment response. TLR5(rs5744174) variant allele carriers (odds ratio(OR) = 1.7(1.1-2.5),p = 0.010,q = 0.46) and TLR1(rs4833095) homozygous variant carriers (OR = 2.8(1.1-7.4),p = 0.037,q = 0.46) had higher odds for a positive treatment response. NLRP3(rs10754558) variant allele carriers (odds ratio(OR) = 0.6(0.4-1.0),p = 0.045,q = 0.46) were more likely to have a negative treatment response. The association in TLR5(rs5744174) remained significant after correction for multiple comparisons among patients negative for RF (OR = 6.2(2.4-16.3),p = 0.0002,q = 0.024). ", "Variation at FCGR2A and functionally related genes is associated with the response to anti-TNF therapy in rheumatoid arthritis", "We aimed to validate this genetic association in a patient cohort from the Spanish population, and also to identify new genes functionally related to FCGR2A that are also associated with anti-TNF response.", "A total of 348 RA patients treated with an anti-TNF therapy were included and genotyped for FCGR2A polymorphism rs1081274.", " Using gene expression profiles from macrophages obtained from synovial fluid of RA patients, we searched for genes highly correlated with FCGR2A expression.", "We found a significant association between FCGR2A and the response to adalimumab (P=0.022). Analyzing the subset of anti-CCP positive RA patients (78%), we also found a significant association between FCGR2A and the response to infliximab (P=0.035). DHX32 and RGS12 were the most consistently correlated genes with FCGR2A expression in RA synovial fluid macrophages (P<0.001).", "We found a significant association between the genetic variation at DHX32 (rs12356233, corrected P=0.019) and a nominally significant association between RGS12 and the response to adalimumab (rs4690093, uncorrected P=0.040).", "In the anti-CCP positive group of patients, we also found a nominally significant association between RGS12 and the response to infliximab (rs2857859, uncorrected P=0.042)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26440629", "http://www.ncbi.nlm.nih.gov/pubmed/22044414", "http://www.ncbi.nlm.nih.gov/pubmed/25848939" ]

[]

[]

[ "SSCprofiler is a computational tool utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.16% specificity on a large set of human miRNA genes. The trained classifier is used to identify novel miRNA gene candidates located within cancer-associated genomic regions and rank the resulting predictions using expression information from a full genome tiling array. SSCprofiler is freely available as a web service at http://www.imbb.forth.gr/SSCprofiler.html." ]

[ "SSCprofiler" ]

[ " In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors. Via the simultaneous integration of biological features such as sequence, structure and conservation, SSCprofiler achieves a performance accuracy of 88.95% sensitivity and 84.16% specificity on a large set of human miRNA genes. The trained classifier is used to identify novel miRNA gene candidates located within cancer-associated genomic regions and rank the resulting predictions using expression information from a full genome tiling array. Finally, four of the top scoring predictions are verified experimentally using northern blot analysis. Our work combines both analytical and experimental techniques to show that SSCprofiler is a highly accurate tool which can be used to identify novel miRNA gene candidates in the human genome. SSCprofiler is freely available as a web service at http://www.imbb.forth.gr/SSCprofiler.html.", "In this work we present a new computational tool (SSCprofiler) utilizing a probabilistic method based on Profile Hidden Markov Models to predict novel miRNA precursors.", "Our work combines both analytical and experimental techniques to show that SSCprofiler is a highly accurate tool which can be used to identify novel miRNA gene candidates in the human genome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19324892" ]

[]

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

[ "No, the histone chaperone ASF1 interacts with histones H3/H4." ]

[ "no" ]

[ "The C terminus of the histone chaperone Asf1 cross-links to histone H3 in yeast and promotes interaction with histones H3 and H4.", "The central histone H3/H4 chaperone Asf1 comprises a highly conserved globular core and a divergent C-terminal tail. ", "The histone H3-H4 chaperone Asf1 is involved in chromatin assembly (or disassembly), histone exchange, regulation of transcription, and chromatin silencing in several organisms. ", "An ASF1-EGFP fusion protein localizes to the nucleus. By tandem-affinity purification/mass spectrometry as well as yeast two-hybrid analysis, we identified histones H3 and H4 as ASF1 interaction partners. ", " This inhibition requires Asf1 binding to H3-H4 and Rtt109 KAT activity, but not tail acetylation of H3-H4 or K56 acetylation of H3. ", "Asf1 is a conserved histone H3/H4 chaperone that can assemble and disassemble nucleosomes and promote histone acetylation. ", "Here we characterize further interactions between budding yeast (Saccharomyces cerevisiae) Asf1 and Set2 using assays of intragenic transcription, H3/H4 posttranslational modification, coding region cross-linking of Asf1 and Set2, and cooccurrence of Asf1 and Set2 in protein complexes. ", "Consistent with this possibility, we show that Asf1 stimulates Set2 occupancy of the coding region of a highly transcribed gene by a mechanism that depends on Asf1 binding to H3/H4. ", "Drosophila histones H3 and H4 can also be produced as a soluble (H3H4)(2) heterotetrameric complex if they are co-expressed with the histone chaperone Asf1.", "Structure and function of the histone chaperone CIA/ASF1 complexed with histones H3 and H4.", "Newly synthesized histones H3-H4 first bind histone chaperone Asf1 and are then transferred to other chaperones for nucleosome assembly", "The C terminus of the histone chaperone Asf1 cross-links to histone H3 in yeast and promotes interaction with histones H3 and H4", "Histone chaperone Asf1 is required for histone H3 lysine 56 acetylation, a modification associated with S phase in mitosis and meiosis", "Antisilencing function 1 (ASF1) is a major histone H3-H4 chaperone that deposits histones H3 and H4 onto DNA", "Rtt109, a recently discovered histone acetyltransferase (HAT) from Saccharomyces cerevisiae, functions with the histone chaperone Asf1 to acetylate lysine K56 on histone H3 (H3K56), a modification associated with newly synthesized histones", "In this issue of Cell, English et al. present the first crystal structure of a histone chaperone (Asf1) bound to histones (the H3/H4 heterodimer)", "By tandem-affinity purification/mass spectrometry as well as yeast two-hybrid analysis, we identified histones H3 and H4 as ASF1 interaction partners.", "Anti-silencing function 1 (Asf1) is a highly conserved chaperone of histones H3/H4 that assembles or disassembles chromatin during transcription, replication, and repair.", "Analysis of a panel of Asf1 mutations that modulate the ability of Asf1 to bind to histones H3/H4 demonstrates that the histone binding activity of Asf1 is required for the acetylation of Lys-9 and Lys-56 on newly synthesized H3.", "Thus Rad53 competes with histones H3-H4 and cochaperones HirA/CAF-I for binding to Asf1.", "Structure and function of the histone chaperone CIA/ASF1 complexed with histones H3 and H4.", "Currently, the best-characterized chaperone-histone interaction is that between the ubiquitous chaperone Asf1 and a dimer of H3 and H4." ]

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[ "http://www.uniprot.org/uniprot/ASF1_CANGA", "http://www.uniprot.org/uniprot/ASF1_CRYNJ", "http://www.uniprot.org/uniprot/ASF1_ASPFU", "http://www.uniprot.org/uniprot/ASF1_ENCCU", "http://www.uniprot.org/uniprot/ASF1_DEBHA", "http://www.uniprot.org/uniprot/ASF1_ASHGO", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056488", "http://www.uniprot.org/uniprot/ASF1_YARLI", "http://www.uniprot.org/uniprot/ASF1_DROME", "http://www.uniprot.org/uniprot/ASF1_KLULA", "http://www.uniprot.org/uniprot/ASF1_CHICK", "http://www.uniprot.org/uniprot/ASF1_USTMA", "http://www.uniprot.org/uniprot/ASF1_CANAL", "http://www.uniprot.org/uniprot/ASF1_CRYNB", "http://www.uniprot.org/uniprot/ASF1_COCIM" ]

[ "Mesenchymal hamartoma of the liver (MHL) is an uncommon benign hepatic tumor typically affecting children under 2 years of age.", "Mesenchymal hamartoma of the liver (MHL) is a benign and rare hepatic lesion, ", "mesenchymal hamartoma of the liver (mhl) is an uncommon benign hepatic tumor typically affecting children under 2 years of age." ]

[ "no" ]

[ "Mesenchymal hamartoma of the liver (MHL) is a benign and rare hepatic lesion, ", "Mesenchymal hamartoma of the liver (MHL) is an uncommon benign hepatic tumor typically affecting children under 2 years of age", "This review on the pathology of hepatic tumors in childhood, from a personal series of 245 tumors, focuses on incidence, management, description of frequent tumors such as hepatoblastoma, fibrolamellar carcinoma, and undifferentiated sarcoma for malignant tumors, focal nodular hyperplasia, hepatocellular adenoma, and mesenchymal hamartoma for benign tumors.", "Mesenchymal hamartoma of the liver is a rare benign liver tumor in children, usually arising from the right liver lobe and represents about 5 to 6% of all primary hepatic tumors", "Hepatic mesenchymal hamartoma (HMH) is the second most common benign hepatic tumor in children", "Hepatic mesenchymal hamartoma is a rare benign tumor in children, and infantile hepatic hemangioendothelioma is also a rare liver neoplasm", "This review on the pathology of hepatic tumors in childhood, from a personal series of 245 tumors, focuses on incidence, management, description of frequent tumors such as hepatoblastoma, fibrolamellar carcinoma, and undifferentiated sarcoma for malignant tumors, focal nodular hyperplasia, hepatocellular adenoma, and mesenchymal hamartoma for benign tumors", "Mesenchymal hamartoma is a rare and benign tumor.. Representing 5 to 8 % of childrens hepatic tumors, it is rarely described in adults", "We report a case of hepatic mesenchymal hamartoma, a rare benign tumour, in a 10-month-old infant.", "Hepatic mesenchymal hamartoma is a rare benign tumour in children.", "Mesenchymal hamartoma is a benign lesion best treated by surgical resection, which usually results in cure.", "Hepatic mesenchymal hamartoma are rare benign tumors.", "Hepatic mesenchymal hamartoma is a rare benign tumor in children, and infantile hepatic hemangioendothelioma is also a rare liver neoplasm.", "Mesenchymal hamartoma is an uncommon benign hepatic tumor arising from the mesenchyme of the portal triad.", "esenchymal hamartoma of the liver (MHL) is an uncommon benign tumor found primarily in children younger than 2 years of age", " case of a prenatally recognized hepatic mesenchymal hamartoma is presented and the literature reviewed. These tumors are benign and usually present in early infancy with symptoms that are related to the mass effect on adjacent organ" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23164031", "http://www.ncbi.nlm.nih.gov/pubmed/16833000", "http://www.ncbi.nlm.nih.gov/pubmed/19365132", "http://www.ncbi.nlm.nih.gov/pubmed/18022426", "http://www.ncbi.nlm.nih.gov/pubmed/23351454", "http://www.ncbi.nlm.nih.gov/pubmed/17493912", "http://www.ncbi.nlm.nih.gov/pubmed/16544232", "http://www.ncbi.nlm.nih.gov/pubmed/2267227", "http://www.ncbi.nlm.nih.gov/pubmed/15785401", "http://www.ncbi.nlm.nih.gov/pubmed/27833980", "http://www.ncbi.nlm.nih.gov/pubmed/8942272", "http://www.ncbi.nlm.nih.gov/pubmed/17713740", "http://www.ncbi.nlm.nih.gov/pubmed/18071280", "http://www.ncbi.nlm.nih.gov/pubmed/22935827", "http://www.ncbi.nlm.nih.gov/pubmed/20954316" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006223", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006222", "http://www.disease-ontology.org/api/metadata/DOID:3467", "http://www.disease-ontology.org/api/metadata/DOID:6108", "http://www.disease-ontology.org/api/metadata/DOID:3462" ]

[ "EEM syndrome is characterized by ectodermal dysplasia, ectrodactyly and macular dystrophy." ]

[ "ectodermal dysplasia", "ectrodactyly", "macular dystrophy" ]

[ "Hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene. ", "Loss-of-function mutations in CDH3, which encodes P-cadherin, result in two allelic autosomal recessive disorders: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndromes. ", "Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).", "EEM syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. ", "BACKGROUND: EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy.", "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).", "Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.", "Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.", "Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report).", "EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy.", "We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome).", "Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.", "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25707507", "http://www.ncbi.nlm.nih.gov/pubmed/10420194", "http://www.ncbi.nlm.nih.gov/pubmed/11424132", "http://www.ncbi.nlm.nih.gov/pubmed/22140374", "http://www.ncbi.nlm.nih.gov/pubmed/15805154", "http://www.ncbi.nlm.nih.gov/pubmed/2628819", "http://www.ncbi.nlm.nih.gov/pubmed/16970031", "http://www.ncbi.nlm.nih.gov/pubmed/18199584", "http://www.ncbi.nlm.nih.gov/pubmed/6302256" ]

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[]

[ "was capable of identifying sequence similarities ~80.8 times faster than blast and 9.6 times faster than blat . ", "CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT", "clast was capable of identifying sequence similarities ~80.8 times faster than blast and 9.6 times faster than blat.", "CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT. ", "CLAST is capable of identifying sequence similarities ~80.8 times faster than BLAST" ]

[ "80.8 times", "80.8" ]

[ "CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT", "First, CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT.", "First, CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT", "First, CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT.", "First, CLAST was capable of identifying sequence similarities ~80.8 times faster than BLAST and 9.6 times faster than BLAT." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25495907" ]

[]

[]

[ "The main algorithms are circRNA_finder, find_circ, CIRCexplorer, CIRI, and MapSplice.", "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. ", "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.", "CircRNAs are novel members of the non-coding RNA family. 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.", ", 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. . ", "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." ]

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

[ "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." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26657634", "http://www.ncbi.nlm.nih.gov/pubmed/27167008" ]

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[]

[ "leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode.", " Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland.", " Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland. Lipolysis (stimulated by beta-adrenergic agents) and leptin secretion by adipocytes are down-regulated by neurons in coculture, effects apparently mediated by neuropeptide Y (NPY)", "Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland. Lipolysis (stimulated by beta-adrenergic agents) and leptin secretion by adipocytes are down-regulated by neurons in coculture, effects apparently mediated by neuropeptide Y (NPY). Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode. Leptin was also detected in some microglobules in whole saliva obtained from four healthy volunteers. Co-localization for leptin, leptin receptor and glucocorticoid receptor in the same cell type suggested a functional relationship between glucocorticoid hormone and leptin secretion also at the level of the salivary glands. ", "Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode. Co-localization for leptin, leptin receptor and glucocorticoid receptor in the same cell type suggested a functional relationship between glucocorticoid hormone and leptin secretion also at the level of the salivary glands.", "Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode.", "Co-localization for leptin, leptin receptor and glucocorticoid receptor in the same cell type suggested a functional relationship between glucocorticoid hormone and leptin secretion also at the level of the salivary glands. Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode.", "Leptin is a 16 kDa protein that exerts important effects on the regulation of food intake and energy expenditure by interacting with the leptin receptor in the brain and in many other tissues. Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland.", "Leptin was also detected in some microglobules in whole saliva obtained from four healthy volunteers. Co-localization for leptin, leptin receptor and glucocorticoid receptor in the same cell type suggested a functional relationship between glucocorticoid hormone and leptin secretion also at the level of the salivary glands. Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland." ]

[ "adipocytes" ]

[ " Although leptin is produced mainly by white adipose tissue, several laboratories have shown low levels of leptin production by a growing number of tissues including the anterior pituitary gland.", "Lipolysis (stimulated by beta-adrenergic agents) and leptin secretion by adipocytes are down-regulated by neurons in coculture, effects apparently mediated by neuropeptide Y (NPY)", "Leptin is mainly produced and secreted by adipocytes, but other tissues and gastric glands have also recently been shown to produce it in a dual (endocrine and exocrine) mode.", "Leptin was also detected in some microglobules in whole saliva obtained from four healthy volunteers. Co-localization for leptin, leptin receptor and glucocorticoid receptor in the same cell type suggested a functional relationship between glucocorticoid hormone and leptin secretion also at the level of the salivary glands.", "Leptin, a circulating hormone secreted mainly from adipose tissues, possesses protective effects on many cell types.", "Leptin, the adipocyte-secreted hormone that regulates weight, is known to link lipid metabolism with inflammation in various cell types", "Leptin, a 16-kDa protein that is mainly secreted by adipocytes, plays a protective role in many cell types", "Do the adipocytokines, leptin and adiponectin affect the granulosa cell expression of anti-Mullerian hormone (AMH) and its receptor (AMHR-II)?Leptin suppresses AMH mRNA levels in human luteinized granulosa cells through the JAK2/STAT3 pathway, while adiponectin has no such effect.AMH is one of the most reliable markers of ovarian reserve", "Leptin, the adipocyte-secreted hormone, exerts its main function as regulator of food intake and energy expenditure through central effects at the hypothalamic level.", "Adipokines are a group of fat-secreted hormones and cytokines, including leptin and adiponectin, with important functions in humans.", "Leptin, an adipose-secreted hormone, links metabolism and immunity.", "Since the discovery of leptin secreted from adipocytes, specialized tissues and cells have been found that secrete the several peptides (or cytokines) that are characterized to negatively and positively regulate the metabolic process.", "Adipokines (leptin, adiponectin, and hepatocyte growth factor (HGF)) secreted from adipose tissue have come to be recognized for their contribution to the mechanisms by which obesity and related metabolic disorders influence breast cancer risk.", "These results show that there is a distinct female-type and male-type leptin pulsatility pattern and each is amenable to augmentation by gonadal steroids either involving mechanisms that impart leptin pulsatility patterns directly at the level of adipocytes and/or at hypothalamic target sites..", "Leptin is a circulating hormone secreted by adipose and a few other tissues.", "Cyclin D1 is expressed exclusively in luminal keratin 8 immunoreactive tumor cells and is dependent on the adipose secreted hormone leptin.", "In gastric cells leptin follows a rapid regulated secretion pathway whereas adipocytes secrete leptin in a constitutive slow fashion." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12242022", "http://www.ncbi.nlm.nih.gov/pubmed/11606782", "http://www.ncbi.nlm.nih.gov/pubmed/23376443", "http://www.ncbi.nlm.nih.gov/pubmed/22692856", "http://www.ncbi.nlm.nih.gov/pubmed/10443698", "http://www.ncbi.nlm.nih.gov/pubmed/12448771", "http://www.ncbi.nlm.nih.gov/pubmed/17639037", "http://www.ncbi.nlm.nih.gov/pubmed/17132702", "http://www.ncbi.nlm.nih.gov/pubmed/11979056", "http://www.ncbi.nlm.nih.gov/pubmed/11824506", "http://www.ncbi.nlm.nih.gov/pubmed/17149693", "http://www.ncbi.nlm.nih.gov/pubmed/26732322", "http://www.ncbi.nlm.nih.gov/pubmed/23016759", "http://www.ncbi.nlm.nih.gov/pubmed/24975960", "http://www.ncbi.nlm.nih.gov/pubmed/21371463", "http://www.ncbi.nlm.nih.gov/pubmed/23503941" ]

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[ "LARVA is an integrative framework for large-scale analysis of recurrent variants in noncoding annotations. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a β-binomial distribution to handle overdispersion. LARVA, moreover, uses regional genomic features such as replication timing to better estimate local mutation rates and mutational hotspots. Furthermore, LARVA highlights several novel highly mutated regulatory sites that could potentially be noncoding drivers." ]

[ "LARVA" ]

[ "LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations.", "In cancer research, background models for mutation rates have been extensively calibrated in coding regions, leading to the identification of many driver genes, recurrently mutated more than expected. Noncoding regions are also associated with disease; however, background models for them have not been investigated in as much detail. This is partially due to limited noncoding functional annotation. Also, great mutation heterogeneity and potential correlations between neighboring sites give rise to substantial overdispersion in mutation count, resulting in problematic background rate estimation. Here, we address these issues with a new computational framework called LARVA. It integrates variants with a comprehensive set of noncoding functional elements, modeling the mutation counts of the elements with a β-binomial distribution to handle overdispersion. LARVA, moreover, uses regional genomic features such as replication timing to better estimate local mutation rates and mutational hotspots. We demonstrate LARVA's effectiveness on 760 whole-genome tumor sequences, showing that it identifies well-known noncoding drivers, such as mutations in the TERT promoter. Furthermore, LARVA highlights several novel highly mutated regulatory sites that could potentially be noncoding drivers. We make LARVA available as a software tool and release our highly mutated annotations as an online resource (larva.gersteinlab.org).", "LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations", "LARVA: an integrative framework for large-scale analysis of recurrent variants in noncoding annotations." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26304545" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000071184", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012045" ]

[ "The anatomical structure of each finger is comprised of four phalanges (distal, middle, proximal, and metacarpal phalange). Toes are also known as phalages" ]

[ "bones of the digits, fingers or toes" ]

[ "Metacarpal and phalangeal fractures of the long fingers a", " The anatomical structure of each finger is comprised of four phalanges (distal, middle, proximal, and metacarpal phalange).", "arious features of the toes, humps in the toe line, phalange marks, flatfoot condition, pits, cracks, corns, etc., were studied.", "802), in which physical injuries are listed, ranging from loss of single phalanges, differentiated between thumb, forefinger, small finger, and the other fingers, to death, is compared with modern grades of disability.", "They featured a prominent unpaired femur besides paired tibiotarsi, tarsometatarsi and species-specific phalanges of the toes.", "The bone structure is rarefied at the distal metaphyses of the metacarpals and the proximal metaphyses of the finger basal phalanges." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19700363", "http://www.ncbi.nlm.nih.gov/pubmed/22250842", "http://www.ncbi.nlm.nih.gov/pubmed/2187446", "http://www.ncbi.nlm.nih.gov/pubmed/24486016", "http://www.ncbi.nlm.nih.gov/pubmed/16965880" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050278", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050277" ]

[ "No. The SELECT study failed to show any significant risk reduction for prostate cancers ascribable to selenium and vitamin E supplementations." ]

[ "no" ]

[ "Our meta-analysis in prospective studies demonstrated a significant inverse association between selenium status and CVD risk within a narrow selenium range and a null effect of selenium supplementation on CVD was observed in RCTs. These findings indicate the importance of considering selenium status, dose and safety in health assessment and future study design.", "Selenium supplementation of 140 or more μg/day after diagnosis of nonmetastatic prostate cancer may increase risk of prostate cancer mortality. Caution is warranted regarding usage of such supplements among men with prostate cancer.", "The SELECT study failed to show any significant risk reduction for prostate cancers ascribable to selenium and vitamin E supplementations.", "Vitamins and supplements, including selenium or vitamin E, have not been proven in clinical trials to prevent prostate cancer and in the case of Vitamin E has been found to increase the risk of incident prostate cancer. Ongoing and future trials may further elucidate the role of diet and immunotherapy for prevention of prostate cancer." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26957512", "http://www.ncbi.nlm.nih.gov/pubmed/25990689", "http://www.ncbi.nlm.nih.gov/pubmed/25854337", "http://www.ncbi.nlm.nih.gov/pubmed/25505227" ]

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[]

[ "Lucinactant us used for the prevention of respiratory distress syndrome in premature infants." ]

[ "respiratory distress syndrome" ]

[ "Lucinactant for the prevention of respiratory distress syndrome in premature infants.", "Lucinactant is a synthetic surfactant containing sinapultide, a bioengineered peptide mimic of surfactant-associated protein B. A meta-analysis of clinical trials demonstrates that lucinactant is as effective as animal-derived surfactants in preventing RDS in premature neonates, and in vitro studies suggest it is more resistant to oxidative and protein-induced inactivation. Its synthetic origin confers lower infection and inflammation risks as well other potential benefits, which may make lucinactant an advantageous alternative to its animal-derived counterparts, which are presently the standard treatment for RDS.", "We evaluated whether intratracheal lucinactant, a synthetic, peptide-containing surfactant, was safe and well-tolerated in infants with acute hypoxemic respiratory failure, and assessed its effects on clinical outcomes.", "An improvement in oxygenation and a significantly reduced requirement for retreatment suggests that lucinactant might improve lung function in infants with acute hypoxemic respiratory failure.", "CONCLUSION: These data suggest that early intervention with lucinactant may more effectively mitigate pulmonary pathophysiological sequelae of RDS than the animal-derived surfactants poractant alfa or beractant.", "Lucinactant for the treatment of respiratory distress syndrome in neonates.", "The clinical trials that have been performed, although underpowered, may indicate that lucinactant is superior to phospholipid synthetic surfactant preparations and at least as effective as animal-derived surfactants in reducing morbidity and mortality from RDS. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15813666", "http://www.ncbi.nlm.nih.gov/pubmed/18822258", "http://www.ncbi.nlm.nih.gov/pubmed/22791092", "http://www.ncbi.nlm.nih.gov/pubmed/16896079", "http://www.ncbi.nlm.nih.gov/pubmed/23473590", "http://www.ncbi.nlm.nih.gov/pubmed/16452346", "http://www.ncbi.nlm.nih.gov/pubmed/23032799", "http://www.ncbi.nlm.nih.gov/pubmed/23118645", "http://www.ncbi.nlm.nih.gov/pubmed/22821059", "http://www.ncbi.nlm.nih.gov/pubmed/22859930", "http://www.ncbi.nlm.nih.gov/pubmed/17533176", "http://www.ncbi.nlm.nih.gov/pubmed/15805381", "http://www.ncbi.nlm.nih.gov/pubmed/15805380" ]

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[ "http://www.biosemantics.org/jochem#4002240", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194", "http://www.disease-ontology.org/api/metadata/DOID:4" ]

[ "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3. These cryptic unstable transcripts (CUTs) are rapidly degraded by the nuclear exosome. Key substrates for exosomal degradation include aberrant functional RNAs and cryptic unstable transcripts (CUTs). Yeast RNA binding proteins Nrd1 and Nab3 direct termination of sn/snoRNAs and recently have also been implicated in premature transcription termination of the NRD1 gene. These results suggest that transcription termination of CUTs directed by Nrd1 and Nab3 is a prerequisite for rapid degradation by the nuclear exosome. ", "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3. Key substrates for exosomal degradation include aberrant functional RNAs and cryptic unstable transcripts (CUTs). These cryptic unstable transcripts (CUTs) are rapidly degraded by the nuclear exosome. These transcripts are targeted for degradation immediately after synthesis by the action of the Nrd1-exosome-TRAMP complexes. Cryptic unstable transcripts (CUTs) were recently described as a principal class of RNA polymerase II transcripts in Saccharomyces cerevisiae. ", "The exosome and its nuclear specific subunit Rrp6 form a 3'-5' exonuclease complex that regulates diverse aspects of RNA biology including 3' end processing and degradation of a variety of noncoding RNAs (ncRNAs) and unstable transcripts. Known targets of the nuclear exosome include short (<1000 bp) RNAPII transcripts such as small noncoding RNAs (snRNAs), cryptic unstable transcripts (CUTs), and some stable unannotated transcripts (SUTs) that are terminated by an Nrd1, Nab3, and Sen1 (NNS) dependent mechanism. The MTREC complex physically interacts with the nuclear exosome and with various RNA-binding and RNA-processing complexes, coupling RNA processing to the RNA degradation machinery.", "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3 These cryptic unstable transcripts (CUTs) are rapidly degraded by the nuclear exosome. Yeast RNA binding proteins Nrd1 and Nab3 direct termination of sn/snoRNAs and recently have also been implicated in premature transcription termination of the NRD1 gene.", "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3. Yeast RNA binding proteins Nrd1 and Nab3 direct termination of sn/snoRNAs and recently have also been implicated in premature transcription termination of the NRD1 gene. These cryptic unstable transcripts (CUTs) are rapidly degraded by the nuclear exosome. These results suggest that transcription termination of CUTs directed by Nrd1 and Nab3 is a prerequisite for rapid degradation by the nuclear exosome. Key substrates for exosomal degradation include aberrant functional RNAs and cryptic unstable transcripts (CUTs). ", "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3", "Cryptic unstable transcripts (CUTs) were recently described as a principal class of RNA polymerase II transcripts in Saccharomyces cerevisiae. These transcripts are targeted for degradation immediately after synthesis by the action of the Nrd1-exosome and Trf4/5-Air1/2-Mtr4 polyadenylation (TRAMP) complexes. The termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3. Known targets of the nuclear exosome include short (<1000 bp) RNAPII transcripts such as small noncoding RNAs (snRNAs), cryptic unstable transcripts (CUTs), and some stable unannotated transcripts (SUTs) that are terminated by an Nrd1, Nab3, and Sen1 (NNS) dependent mechanism. Recent work suggests Nrd1 is necessary for transcriptome surveillance, regulating promoter directionality and suppressing antisense transcription independently of, or prior to, Rrp6 activity." ]

[ "Rrp6", "Nrd1", "Nab3", "TRAMP complex", "Trf4/5-Air1/2-Mtr4 polyadenylation", "Sen1" ]

[ "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3", "These cryptic unstable transcripts (CUTs) are rapidly degraded by the nuclear exosome. Yeast RNA binding proteins Nrd1 and Nab3 direct termination of sn/snoRNAs and recently have also been implicated in premature transcription termination of the NRD1 gene.", " These results suggest that transcription termination of CUTs directed by Nrd1 and Nab3 is a prerequisite for rapid degradation by the nuclear exosome.", "Key substrates for exosomal degradation include aberrant functional RNAs and cryptic unstable transcripts (CUTs).", "Lack of TRAMP activity stabilises ∼ 1600 CUTs in meiotic cells, which occupy 40% of the binding capacity of the nuclear cap binding complex (CBC). CBC mutants display defects in the formation of meiotic double strand breaks (DSBs), and we see similar defects in TRAMP mutants, suggesting that a key function of the nuclear exosome is to prevent saturation of the CBC complex by CUTs", "We find that TRAMP mutants produce high levels of CUTs during meiosis that are undetectable in wild-type cells, showing that the nuclear exosome remains functional for CUT degradation, and we further report that the meiotic exosome complex contains Rrp6.", "The exosome component Rrp6 is required for RNA polymerase II termination at specific targets of the Nrd1-Nab3 pathway.", "Known targets of the nuclear exosome include short (<1000 bp) RNAPII transcripts such as small noncoding RNAs (snRNAs), cryptic unstable transcripts (CUTs), and some stable unannotated transcripts (SUTs) that are terminated by an Nrd1, Nab3, and Sen1 (NNS) dependent mechanism", "Recent work suggests Nrd1 is necessary for transcriptome surveillance, regulating promoter directionality and suppressing antisense transcription independently of, or prior to, Rrp6 activity.", "Cryptic unstable transcripts (CUTs) were recently described as a principal class of RNA polymerase II transcripts in Saccharomyces cerevisiae. These transcripts are targeted for degradation immediately after synthesis by the action of the Nrd1-exosome-TRAMP complexes.", "In Saccharomyces cerevisiae, non-coding RNAs, including cryptic unstable transcripts (CUTs), are subject to degradation by the exosome. The Trf4/5-Air1/2-Mtr4 polyadenylation (TRAMP) complex in S. cerevisiae is a nuclear exosome cofactor that recruits the exosome to degrade RNAs", " The MTREC complex specifically binds to CUTs, meiotic mRNAs and unspliced pre-mRNA transcripts and targets these RNAs for degradation by the nuclear exosome, while the TRAMP complex has only a minor role in this process", "The eukaryotic exosome exoribonuclease Rrp6 forms a complex with Rrp47 that functions in nuclear RNA quality control mechanisms, the degradation of cryptic unstable transcripts (CUTs), and in the 3 end maturation of stable RNAs", "Nrd1 and Nab3 colocalize to regions of the genome expressing antisense CUTs, and these transcripts require yeast nuclear exosome and TRAMP components for degradation", "Genome-wide studies have identified abundant small, noncoding RNAs, including small nuclear RNAs, small nucleolar RNAs (snoRNAs), cryptic unstable transcripts (CUTs), and upstream regulatory RNAs (uRNAs), that are transcribed by RNA polymerase II (pol II) and terminated by an Nrd1-dependent pathway", "Nrd1 and Nab3 colocalize to regions of the genome expressing antisense CUTs, and these transcripts require yeast nuclear exosome and TRAMP components for degradation.", "Here, by examining the overlap of stable (SUTs, stable unannotated transcripts) and unstable (CUTs, cryptic unstable transcripts) transcripts with protein-coding genes, we show that the predicted Nrd1 and Nab3-binding site sequences occur at differing frequencies.", "Examples are the consensus binding site sequences of the RNA-binding proteins Nrd1 and Nab3 that target non-coding transcripts for degradation.", "Termination of cryptic unstable transcripts is directed by yeast RNA-binding proteins Nrd1 and Nab3.", "Some are designated Cryptic Unstable Transcripts (CUTs) because they are terminated by the Nrd1-Nab3-Sen1 pathway and then rapidly degraded by the nuclear exosome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25210768", "http://www.ncbi.nlm.nih.gov/pubmed/19169244", "http://www.ncbi.nlm.nih.gov/pubmed/25680078", "http://www.ncbi.nlm.nih.gov/pubmed/16973436", "http://www.ncbi.nlm.nih.gov/pubmed/21878619" ]

[]

[]

[ "Yes. Recent studies indicate that long interspersed nuclear element-1 (L1) are mobilized in the genome of human neural progenitor cells and enhanced in Rett syndrome and ataxia telangiectasia." ]

[ "yes" ]

[ "Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition. Our data demonstrate that L1 retrotransposition can be controlled in a tissue-specific manner and that disease-related genetic mutations can influence the frequency of neuronal L1 retrotransposition. Our findings add a new level of complexity to the molecular events that can lead to neurological disorders.", "Furthermore, some neurological diseases, such as Rett syndrome and ataxia telangiectasia, misregulate L1 retrotransposition, which could contribute to some pathological aspects. ", "Recent studies indicate that long interspersed nuclear element-1 (L1) are mobilized in the genome of human neural progenitor cells and enhanced in Rett syndrome and ataxia telangiectasia. ", "In addition, recent data indicate that engineered human L1s can undergo somatic retrotransposition in human neural progenitor cells and that an increase in human-specific L1 DNA content can be detected in the brains of normal controls, as well as in Rett syndrome patients.", "Furthermore, some neurological diseases, such as Rett syndrome and ataxia telangiectasia, misregulate L1 retrotransposition, which could contribute to some pathological aspects.", "Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition.", "In addition, recent data indicate that engineered human L1s can undergo somatic retrotransposition in human neural progenitor cells and that an increase in human-specific L1 DNA content can be detected in the brains of normal controls, as well as in Rett syndrome patients.", "Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition", "Furthermore, some neurological diseases, such as Rett syndrome and ataxia telangiectasia, misregulate L1 retrotransposition, which could contribute to some pathological aspects", "Using neuronal progenitor cells derived from human induced pluripotent stem cells and human tissues, we revealed that patients with Rett syndrome (RTT), carrying MeCP2 mutations, have increased susceptibility for L1 retrotransposition.", "Furthermore, some neurological diseases, such as Rett syndrome and ataxia telangiectasia, misregulate L1 retrotransposition, which could contribute to some pathological aspects.", "Recent studies indicate that long interspersed nuclear element-1 (L1) are mobilized in the genome of human neural progenitor cells and enhanced in Rett syndrome and ataxia telangiectasia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23057747", "http://www.ncbi.nlm.nih.gov/pubmed/24389010", "http://www.ncbi.nlm.nih.gov/pubmed/22159035", "http://www.ncbi.nlm.nih.gov/pubmed/21085180" ]

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[ "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=D020084", "http://www.disease-ontology.org/api/metadata/DOID:1206" ]

[ "No, multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population." ]

[ "no" ]

[ "The association of Down's syndrome and leukemia has been documented for over 50 years. Multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population.", "We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirmed on bone marrow by flowcytometry. Karyotyping revealed Trisomy 21.", "Juvenile myelomonocytic leukemia (JMML) and a solitary cases of acute myeloid leukemia (AML) in Downs syndrome. ", "This was thus confirmed to be a case with transient leukemia with Downs syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19332933", "http://www.ncbi.nlm.nih.gov/pubmed/25332567", "http://www.ncbi.nlm.nih.gov/pubmed/16321814", "http://www.ncbi.nlm.nih.gov/pubmed/2955886" ]

[]

[]

[ "Ixazomib is proteasome inhibitor. It is used for treatment of multiple myeloma." ]

[ "proteasome" ]

[ "Over the past decade, MM therapy is significantly improved by the introduction of novel therapeutics such as immunomodulatory agents (thalidomide, lenalidomide, and pomalidomide), proteasome inhibitors (bortezomib, carfilzomib, and ixazomib), monoclonal antibodies (daratumumab and elotuzumab), histone deacetylase (HDAC) inhibitors (Panobinostat).", "Due to the largely incurable nature of multiple myeloma, the development of newer agents is ongoing and includes new oral PIs (ixazomib), immunotherapies (e.g., CD38- or SLAMF7-targeted antibodies), and small molecules. ", "Ixazomib (MLN9708-MLN2238), the second-generation proteasome inhibitor, selectivity and potency were similar to that of bortezomib, is currently being investigated in phase I studies.", "In the last few weeks, the FDA approved three new therapies for multiple myeloma: ixazomib, the first oral proteasome inhibitor; and daratumumab and elotuzumab, two monoclonal antibodies that target CD38 and SLAMF7, respectively.", "Ixazomib, the first oral proteasome inhibitor to be evaluated in multiple myeloma, exerts substantial anti-myeloma activity as a single agent and particularly in combination with immunomodulatory drugs and it may be an attractive option for maintenance therapy. ", "Since the introduction of bortezomib in 2003, several next-generation proteasome inhibitors have also been used clinically, including carfilzomib, oprozomib, ixazomib, and delanzomib.", "AIM: The aim of the present study was to characterize the pharmacokinetics of the oral proteasome inhibitor, ixazomib, in patients with solid tumours and moderate or severe hepatic impairment, to provide posology recommendations.", "Pharmacokinetics of ixazomib, an oral proteasome inhibitor, in solid tumour patients with moderate or severe hepatic impairment.", "Ixazomib is the first oral, proteasome inhibitor to reach phase III trials.", "MLN2238 (ixazomib), an oral proteasome inhibitor, has improved pharmacotherapeutic parameters compared to bortezomib.", "This population pharmacokinetic analysis of the investigational oral proteasome inhibitor ixazomib assessed the feasibility of switching from body surface area (BSA)-based to fixed dosing, and the impact of baseline covariates on ixazomib pharmacokinetics." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27119237", "http://www.ncbi.nlm.nih.gov/pubmed/26667773", "http://www.ncbi.nlm.nih.gov/pubmed/27121262", "http://www.ncbi.nlm.nih.gov/pubmed/26846321", "http://www.ncbi.nlm.nih.gov/pubmed/25377318", "http://www.ncbi.nlm.nih.gov/pubmed/26988986", "http://www.ncbi.nlm.nih.gov/pubmed/25919767", "http://www.ncbi.nlm.nih.gov/pubmed/26558304", "http://www.ncbi.nlm.nih.gov/pubmed/26658418", "http://www.ncbi.nlm.nih.gov/pubmed/26138345", "http://www.ncbi.nlm.nih.gov/pubmed/26588946", "http://www.ncbi.nlm.nih.gov/pubmed/26709701", "http://www.ncbi.nlm.nih.gov/pubmed/27783987", "http://www.ncbi.nlm.nih.gov/pubmed/27325500", "http://www.ncbi.nlm.nih.gov/pubmed/26141494", "http://www.ncbi.nlm.nih.gov/pubmed/23514361", "http://www.ncbi.nlm.nih.gov/pubmed/26872892", "http://www.ncbi.nlm.nih.gov/pubmed/27261328", "http://www.ncbi.nlm.nih.gov/pubmed/26337806", "http://www.ncbi.nlm.nih.gov/pubmed/25234165", "http://www.ncbi.nlm.nih.gov/pubmed/27702799", "http://www.ncbi.nlm.nih.gov/pubmed/25456369", "http://www.ncbi.nlm.nih.gov/pubmed/26811670", "http://www.ncbi.nlm.nih.gov/pubmed/26634271", "http://www.ncbi.nlm.nih.gov/pubmed/27259216", "http://www.ncbi.nlm.nih.gov/pubmed/25302026", "http://www.ncbi.nlm.nih.gov/pubmed/26947893" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004791" ]

[ "No, Proprotein Convertase Subtilisin Kexin 9 (PCSK9) binds with LDL-receptor (LDL-R) causing its degradation in the lysosome with the result of LDL-C accumulating in the blood." ]

[ "no" ]

[ "Recently it was revealed that the secreted Proprotein Convertase Subtilisin Kexin 9 (PCSK9) binds with LDL-receptor (LDL-R) causing its degradation in the lysosome with the result of LDL-C accumulating in the blood.", "The major goal of this study is to identify peptide/s from the catalytic domain of hPCSK9 that can block the binding of hPCSK9 and LDL-R and therefore can reduce LDL-R degradation leading to the clearance of LDL-C from the plasma.", "In vitro administration of SRT3025 to cultured AML12 hepatocytes attenuated Pcsk9 secretion and its binding to Ldlr, thereby reducing Pcsk9-mediated Ldlr degradation and increasing Ldlr expression and LDL uptake.", "Proprotein convertase subtilisin/kexin type 9 (PCSK9), which involves in low-density lipoprotein cholesterol (LDL-C) metabolism by interacting with the LDL receptor, is considered as a potent therapeutic target for treating hypercholesterolemia. ", "Taken together, these results suggested that the IgG1-PA4 can be served as a potential candidate for the treatment of hypercholesterolemia by inhibiting PCSK9-mediated degradation of cell surface LDLRs.", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein receptor, escorting it to its destruction in the lysosome and thereby preventing the recirculation of the low-density lipoprotein receptor to the hepatocyte cell surface. ", "However, statins have low efficiency because they also increase PCSK9 which targets LDLR for degradation.", "Inhibition of the enzyme PCSK9 (proprotein convertase subtilisin/kexin type 9), which is involved in depletion of the LDL-receptor, is a new pharmacologic approach. ", "Proprotein convertase subtilisin kexin type 9 (PCSK9) modulates LDL-c through post-translational degradation of the LDLR.", "Mechanistically, hepatic S1P KD was shown to decrease the liver and plasma levels of the protein proprotein convertase subtilisin/kexin type 9 (PCSK9), which degrades LDLR protein. ", "We report here the development of sdAbs targeting human PCSK9 (proprotein convertase subtilisin/kexin type 9) as an alternative to anti-PCSK9 mAbs.", "PCSK9 proprotein convertase subtilisin/kexin type (PCSK9) protein plays an important role in LDL cholesterol (LDL-C) metabolism, due to its role in the degradation of the LDL receptor.", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to LDL receptors, leading to their degradation", "Low density lipoprotein binds to proprotein convertase subtilisin/kexin type-9 (PCSK9) in human plasma and inhibits PCSK9-mediated low density lipoprotein receptor degradation", "Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a secreted protein that binds to the epidermal growth factor-like-A domain of the low density lipoprotein receptor (LDLR) and mediates LDLR degradation in liver", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds LDL receptors, targeting them for degradation", "Proprotein convertase subtilisin/kexin type 9 (PCSK9), which binds the low-density lipoprotein receptor and targets it for degradation, has emerged as an important regulator of serum cholesterol levels and cardiovascular disease risk", "Secreted proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low-density lipoprotein receptor (LDLR) at the cell surface and disrupts the normal recycling of the LDLR", "Proprotein convertase, subtilisin/kexin type 9 (PCSK9), a key regulator of plasma LDL-cholesterol (LDL-c) and cardiovascular risk, is produced in liver and secreted into plasma where it binds hepatic LDL receptors (LDLR), leading to their degradation", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of the hepatic low-density lipoprotein receptor (LDL-R) and is therefore a prominent therapeutic target for reducing LDL-cholesterol", "In the present study we scanned the related gene of a clinically diagnosed autosomal genetic hypercholesterolemia family for the possible mutations and established eukaryotic expression vector of mutation of proprotein convertase subtilisin/kexin type 9 (PCSK9) gene with gene recombination technique to investigate the contributions of the variation on low density lipoprotein receptor (LDL-R) metabolism and function alternation.Mutation detection was conducted for LDL-R, apolipoprotein B(100) (apoB(100)) and PCSK9 gene with nucleotide sequencing in a Chinese FH family", "Proprotein convertase subtilisin-kexin type 9 (PCSK9) provides a key step in LDL metabolism by stimulating LDL receptor degradation.", "The proprotein convertase subtilisin-kexin type 9 (PCSK9) pathway plays a key role in lipoprotein metabolism by promoting LDL-receptor degradation.", "Proprotein convertase subtilisin-kexin type 9 (PCSK9) plays a key role in LDL receptor processing.", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of the LDL receptor (LDLr) in hepatocytes, and its expression in mouse liver has been shown to decrease with fenofibrate treatment.We developed a sandwich ELISA using recombinant human PCSK9 protein and 2 affinity-purified polyclonal antibodies directed against human PCSK9.", "Proprotein convertase subtilisin kexin type 9 (PCSK9) enhances the degradation of the LDLR and modulates liver CD81 levels.", "Low-density lipoprotein (LDL) metabolism is governed by proprotein convertase subtilisin-kexin type 9 (PCSK9), which down-regulates LDL receptor expression, resulting in higher LDL cholesterol (LDL-C).", "Proprotein convertase subtilisin kexin type 9 (PCSK9) is gaining attention as a key regulator of serum LDL-cholesterol (LDLC).", "The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene regulates cholesterol homoeostasis by accelerating low-density lipoprotein receptor (LDLR) degradation resulting in the decreased catabolism of low-density lipoprotein (LDL) leading to hypercholesterolaemia.", "Low density lipoprotein binds to proprotein convertase subtilisin/kexin type-9 (PCSK9) in human plasma and inhibits PCSK9-mediated low density lipoprotein receptor degradation.", "Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a secreted protein that binds to the epidermal growth factor-like-A domain of the low density lipoprotein receptor (LDLR) and mediates LDLR degradation in liver.", "Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a regulator of LDL-cholesterol receptor homeostasis and emerges as a therapeutic target in the prevention of cardiovascular (CV) disease.", "The present study was conducted to investigate the role of plasma proprotein convertase subtilisin kexin type 9 (PCSK9) levels, a regulator of LDL-receptor expression, in the occurrence of diabetic dyslipidemia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27284008", "http://www.ncbi.nlm.nih.gov/pubmed/26040332", "http://www.ncbi.nlm.nih.gov/pubmed/20529551", "http://www.ncbi.nlm.nih.gov/pubmed/23675525", "http://www.ncbi.nlm.nih.gov/pubmed/26318398", "http://www.ncbi.nlm.nih.gov/pubmed/23400816", "http://www.ncbi.nlm.nih.gov/pubmed/25649668", "http://www.ncbi.nlm.nih.gov/pubmed/26256967", "http://www.ncbi.nlm.nih.gov/pubmed/22683370", "http://www.ncbi.nlm.nih.gov/pubmed/23690465", "http://www.ncbi.nlm.nih.gov/pubmed/24164109", "http://www.ncbi.nlm.nih.gov/pubmed/21692990", "http://www.ncbi.nlm.nih.gov/pubmed/23974119", "http://www.ncbi.nlm.nih.gov/pubmed/21122852", "http://www.ncbi.nlm.nih.gov/pubmed/23261172", "http://www.ncbi.nlm.nih.gov/pubmed/25679794", "http://www.ncbi.nlm.nih.gov/pubmed/26495026", "http://www.ncbi.nlm.nih.gov/pubmed/24094767", "http://www.ncbi.nlm.nih.gov/pubmed/18436719", "http://www.ncbi.nlm.nih.gov/pubmed/21497351", "http://www.ncbi.nlm.nih.gov/pubmed/22580899", "http://www.ncbi.nlm.nih.gov/pubmed/17702855", "http://www.ncbi.nlm.nih.gov/pubmed/20716520", "http://www.ncbi.nlm.nih.gov/pubmed/26056005", "http://www.ncbi.nlm.nih.gov/pubmed/23141813", "http://www.ncbi.nlm.nih.gov/pubmed/22300679", "http://www.ncbi.nlm.nih.gov/pubmed/25463543", "http://www.ncbi.nlm.nih.gov/pubmed/24685817", "http://www.ncbi.nlm.nih.gov/pubmed/25905719", "http://www.ncbi.nlm.nih.gov/pubmed/26548330", "http://www.ncbi.nlm.nih.gov/pubmed/24603306", "http://www.ncbi.nlm.nih.gov/pubmed/22907332", "http://www.ncbi.nlm.nih.gov/pubmed/26088304", "http://www.ncbi.nlm.nih.gov/pubmed/19828345", "http://www.ncbi.nlm.nih.gov/pubmed/26364362", "http://www.ncbi.nlm.nih.gov/pubmed/23106476", "http://www.ncbi.nlm.nih.gov/pubmed/26023080", "http://www.ncbi.nlm.nih.gov/pubmed/17493938", "http://www.ncbi.nlm.nih.gov/pubmed/22176652", "http://www.ncbi.nlm.nih.gov/pubmed/25744035", "http://www.ncbi.nlm.nih.gov/pubmed/25070550", "http://www.ncbi.nlm.nih.gov/pubmed/26195630", "http://www.ncbi.nlm.nih.gov/pubmed/25971287", "http://www.ncbi.nlm.nih.gov/pubmed/24144304" ]

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[ "http://www.uniprot.org/uniprot/PCSK9_SAIBB", "http://www.uniprot.org/uniprot/PCSK9_MACMU", "http://www.uniprot.org/uniprot/PCSK9_PANTR", "http://www.uniprot.org/uniprot/PCSK9_COLGU", "http://www.uniprot.org/uniprot/PCSK9_CALJA", "http://www.uniprot.org/uniprot/PCSK9_LAGLA", "http://www.uniprot.org/uniprot/PCSK9_SAGLB", "http://www.uniprot.org/uniprot/PCSK9_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D043484", "http://www.uniprot.org/uniprot/PCSK9_PONPY", "http://amigo.geneontology.org/amigo/term/GO:1990666", "http://www.uniprot.org/uniprot/PCSK9_MACNE", "http://www.uniprot.org/uniprot/PCSK9_RAT", "http://www.uniprot.org/uniprot/PCSK9_ATEGE", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000071449", "http://www.uniprot.org/uniprot/PCSK9_PANPA", "http://www.uniprot.org/uniprot/PCSK9_PLEMO" ]

[ "Hy's law correlates enzyme elevations with liver injury ad subsequent failure." ]

[ "liver" ]

[ " Hy's Law of drug-induced hepatocellular jaundice causing a case-fatality rate or need for transplant of 10% or higher has been validated in several large national registries, including the ongoing, prospective U.S. Drug-Induced Liver Injury Network. ", "Enzyme elevations alone may not be harmful, but if caused by a drug and followed by jaundice (called 'Hy's law') there is a high possibility of serious DILI.", "No additional alleles outside those associated with liver injury patterns were found to affect potential severity as measured by Hy's Law criteria.", "We compared its performance with that of Hy's Law, which predicts severity of DILI based on levels of alanine aminotransferase or aspartate aminotransferase and total bilirubin, and validated the model in a separate sample.We conducted a retrospective cohort study of 15,353 Kaiser Permanente Northern California members diagnosed with DILI from 2004 through 2010, liver aminotransferase levels above the upper limit of normal, and no pre-existing liver disease.", "Risk of Acute Liver Failure in Patients With Drug-Induced Liver Injury: Evaluation of Hy's Law and a New Prognostic Model.", "Hy's Law, which states that hepatocellular drug-induced liver injury (DILI) with jaundice indicates a serious reaction, is used widely to determine risk for acute liver failure (ALF).", "Hy's law is a method used to identify drug-induced liver injury (DILI)", "Potential severe liver injury is identified in clinical trials by ALT>3 × upper limits of normal (ULN) and total bilirubin>2 × ULN, and termed 'Hy's Law' by the US FDA.", "Severe liver injury is identified by the liver chemistry threshold of alanine aminotransferase (ALT)>3× upper limit of normal (ULN) and bilirubin>2× ULN, termed Hy's law by the Food and Drug Administration. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24203912", "http://www.ncbi.nlm.nih.gov/pubmed/26116527", "http://www.ncbi.nlm.nih.gov/pubmed/23874514", "http://www.ncbi.nlm.nih.gov/pubmed/22928730", "http://www.ncbi.nlm.nih.gov/pubmed/24704526", "http://www.ncbi.nlm.nih.gov/pubmed/26159259", "http://www.ncbi.nlm.nih.gov/pubmed/23300062", "http://www.ncbi.nlm.nih.gov/pubmed/26122767", "http://www.ncbi.nlm.nih.gov/pubmed/25683797" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D065290", "http://www.disease-ontology.org/api/metadata/DOID:2044", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056486", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056487", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008111", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017114", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D058625" ]

[ "Yes, apremilast, an oral phosphodiesterase 4 inhibitor, is effective for psoriatic arthritis." ]

[ "yes" ]

[ "Apremilast, an oral phosphodiesterase 4 inhibitor, in patients with psoriatic arthritis and current skin involvement: a phase III, randomised, controlled trial (PALACE 3).", "OBJECTIVE: To evaluate apremilast treatment in patients with active psoriatic arthritis, including current skin involvement, despite prior therapy with conventional disease-modifying antirheumatic drugs and/or biologic agents.", "CONCLUSIONS: Apremilast demonstrated clinically meaningful improvements in psoriatic arthritis and psoriasis at week 16; sustained improvements were seen with continued treatment through 52 weeks. ", "Apremilast: A Novel Drug for Treatment of Psoriasis and Psoriatic Arthritis.", "OBJECTIVE: To review the pharmacology, efficacy, and safety of apremilast and determine its role relative to other agents in the treatment of psoriasis and psoriatic arthritis.", "CONCLUSIONS: Apremilast has a novel mechanism of action and is safe and effective for the management of psoriasis and psoriatic arthritis. ", " In particular, apremilast has been recently approved for the treatment of psoriasis and psoriatic arthritis.", "Apremilast, an oral phosphodiesterase 4 inhibitor, has an acceptable safety profile and is effective for treatment of plaque psoriasis and psoriatic arthritis.", "As part of the National Institute for Health and Clinical Excellence (NICE) single technology appraisal (STA) process, the manufacturer of apremilast was invited to submit evidence for its clinical and cost effectiveness for the treatment of active psoriatic arthritis (PsA) for whom disease-modifying anti-rheumatic drugs (DMARDs) have been inadequately effective, not tolerated or contraindicated.", "Psoriatic Arthritis Long-term Assessment of Clinical Efficacy 1 (PALACE 1) compared apremilast with placebo in patients with active psoriatic arthritis despite prior traditional disease-modifying antirheumatic drug (DMARD) and/or biologic therapy.", "In patients with psoriatic arthritis, there are no clinical trials comparing apremilast with TNF alpha antagonists, and no interpretable trials of apremilast after failure of a TNF alpha antagonist.", "Psoriatic Arthritis Long-term Assessment of Clinical Efficacy 1 (PALACE 1) compared apremilast with placebo in patients with active psoriatic arthritis despite prior traditional disease-modifying antirheumatic drug (DMARD) and/or biologic therapy.In the 24-week, placebo-controlled phase of PALACE 1, patients (N=504) were randomised (1:1:1) to placebo, apremilast 20 mg twice a day (BID) or apremilast 30 mg BID", "No imbalance in major adverse cardiac events, serious or opportunistic infections, malignancies or laboratory abnormalities was observed.Apremilast was effective in the treatment of psoriatic arthritis, improving signs and symptoms and physical function", "Apremilast is a novel oral PDE4 enzyme inhibitor capable of blocking leukocyte production of IL-12, IL-23, TNF-a, INF- with subsequent suppression of Th1 and Th17-mediated immune responses, and proven clinical efficacy for psoriasis as well as rheumatoid and psoriatic arthritis.Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) showed a significant (P&lt;0.05) decrease after 85 days of treatment with apremilast 20 mg twice daily in 8 patients with active discoid lupus", "The purpose of this study is to give an overview of the new treatments approved by the U.S. Food and Drug Administration (FDA) for use in psoriatic arthritis (PsA).FDA has approved three new drugs for PsA: Certolizumab-pegol: a PEGylated Fc-free tumour necrosis factor inhibitor (TNFi); ustekinumab: an anti interleukin (IL)-12 and IL-23 mAb; and apremilast and oral phosphodiesterase 4 inhibitor.", "In all trials, the drug had an acceptable safety profile, with the most common adverse effects of diarrhea, nausea, and headache.Apremilast has a novel mechanism of action and is safe and effective for the management of psoriasis and psoriatic arthritis.", "Apremilast is a well-tolerated and effective phosphodiesterase type 4 inhibitor that is indicated for the treatment of moderate-to-severe plaque psoriasis and psoriatic arthritis.", "Psoriatic Arthritis Long-term Assessment of Clinical Efficacy 1 (PALACE 1) compared apremilast with placebo in patients with active psoriatic arthritis despite prior traditional disease-modifying antirheumatic drug (DMARD) and/or biologic therapy.In the 24-week, placebo-controlled phase of PALACE 1, patients (N=504) were randomised (1:1:1) to placebo, apremilast 20 mg twice a day (BID) or apremilast 30 mg BID.", "Newer drugs in the treatment armamentarium that have shown efficacy for both psoriasis and psoriatic arthritis consist of the anti-IL-17 agent, secukinumab, and a phosphodiesterase-4 inhibitor, apremilast.", "To review the pharmacology, efficacy, and safety of apremilast and determine its role relative to other agents in the treatment of psoriasis and psoriatic arthritis.A PubMed search (1946 to December 2015) using the terms apremilast and CC-10004 was conducted to identify relevant articles.In vitro or in vivo evaluations of apremilast published in the English language were eligible for inclusion.", "In patients with psoriatic arthritis, there are no clinical trials comparing apremilast with TNF alpha antagonists, and no interpretable trials of apremilast after failure of a TNF alpha antagonist.", "No imbalance in major adverse cardiac events, serious or opportunistic infections, malignancies or laboratory abnormalities was observed.Apremilast was effective in the treatment of psoriatic arthritis, improving signs and symptoms and physical function.", "Apremilast is a novel oral PDE4 enzyme inhibitor capable of blocking leukocyte production of IL-12, IL-23, TNF-a, INF- with subsequent suppression of Th1 and Th17-mediated immune responses, and proven clinical efficacy for psoriasis as well as rheumatoid and psoriatic arthritis.Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) showed a significant (P<0.05) decrease after 85 days of treatment with apremilast 20 mg twice daily in 8 patients with active discoid lupus.", "Apremilast was effective in the treatment of psoriatic arthritis, improving signs and symptoms and physical function.", "Apremilast has a novel mechanism of action and is safe and effective for the management of psoriasis and psoriatic arthritis.", "Apremilast, an oral phosphodiesterase 4 inhibitor, demonstrated effectiveness (versus placebo) for treatment of active psoriatic arthritis in the psoriatic arthritis long-term assessment of clinical efficacy (PALACE) phase III clinical trial program.", "Psoriatic Arthritis Long-term Assessment of Clinical Efficacy 1 (PALACE 1) compared apremilast with placebo in patients with active psoriatic arthritis despite prior traditional disease-modifying antirheumatic drug (DMARD) and/or biologic therapy.", "Apremilast: A Review in Psoriasis and Psoriatic Arthritis.", "Drug safety evaluation of apremilast for treating psoriatic arthritis.", "Apremilast for the treatment of psoriatic arthritis.", "Apremilast mechanism of action and application to psoriasis and psoriatic arthritis.", "Apremilast: A Phosphodiesterase 4 Inhibitor for the Treatment of Psoriatic Arthritis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26220911", "http://www.ncbi.nlm.nih.gov/pubmed/25633241", "http://www.ncbi.nlm.nih.gov/pubmed/27272887", "http://www.ncbi.nlm.nih.gov/pubmed/26644232", "http://www.ncbi.nlm.nih.gov/pubmed/27022911", "http://www.ncbi.nlm.nih.gov/pubmed/26806620", "http://www.ncbi.nlm.nih.gov/pubmed/26923915", "http://www.ncbi.nlm.nih.gov/pubmed/27486641", "http://www.ncbi.nlm.nih.gov/pubmed/24595547", "http://www.ncbi.nlm.nih.gov/pubmed/27747762", "http://www.ncbi.nlm.nih.gov/pubmed/27836567", "http://www.ncbi.nlm.nih.gov/pubmed/25973439", "http://www.ncbi.nlm.nih.gov/pubmed/23134988", "http://www.ncbi.nlm.nih.gov/pubmed/22257911", "http://www.ncbi.nlm.nih.gov/pubmed/27307707", "http://www.ncbi.nlm.nih.gov/pubmed/27168275", "http://www.ncbi.nlm.nih.gov/pubmed/25827658", "http://www.ncbi.nlm.nih.gov/pubmed/23569359", "http://www.ncbi.nlm.nih.gov/pubmed/23580094", "http://www.ncbi.nlm.nih.gov/pubmed/26783350", "http://www.ncbi.nlm.nih.gov/pubmed/27538241", "http://www.ncbi.nlm.nih.gov/pubmed/26660203", "http://www.ncbi.nlm.nih.gov/pubmed/24797159", "http://www.ncbi.nlm.nih.gov/pubmed/26807876", "http://www.ncbi.nlm.nih.gov/pubmed/26503917", "http://www.ncbi.nlm.nih.gov/pubmed/26792812" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015535", "http://www.disease-ontology.org/api/metadata/DOID:9008" ]

[ "Yes. Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including T-Brain-1 (TBR1), a master regulator of cortical development. T-brain-1 (TBR1) is a brain-specific T-box transcription factor. In 1995, Tbr1 was first identified from a subtractive hybridization that compared mouse embryonic and adult telencephalons. Previous studies of Tbr1 (-∕-) mice have indicated critical roles for TBR1 in the development of the cerebral cortex, amygdala, and olfactory bulb. Neuronal migration and axonal projection are two important developmental features controlled by TBR1." ]

[ "yes" ]

[ "TBR1 regulates autism risk genes in the developing neocortex", "Exome sequencing studies have identified multiple genes harboring de novo loss-of-function (LoF) variants in individuals with autism spectrum disorders (ASD), including TBR1, a master regulator of cortical development. We performed ChIP-seq for TBR1 during mouse cortical neurogenesis and show that TBR1-bound regions are enriched adjacent to ASD genes. ASD genes were also enriched among genes that are differentially expressed in Tbr1 knockouts, which together with the ChIP-seq data, suggests direct transcriptional regulation. Of the nine ASD genes examined, seven were misexpressed in the cortices of Tbr1 knockout mice, including six with increased expression in the deep cortical layers. ASD genes with adjacent cortical TBR1 ChIP-seq peaks also showed unusually low levels of LoF mutations in a reference human population and among Icelanders. We then leveraged TBR1 binding to identify an appealing subset of candidate ASD genes. Our findings highlight a TBR1-regulated network of ASD genes in the developing neocortex that are relatively intolerant to LoF mutations, indicating that these genes may play critical roles in normal cortical development.", "T-Brain-1--A Potential Master Regulator in Autism Spectrum Disorders.", "T-Brain-1 (TBR1), a causative gene in autism spectrum disorders (ASDs), encodes a brain-specific T-box transcription factor. It is therefore possible that TBR1 controls the expression of other autism risk factors. The downstream genes of TBR1 have been identified using microarray and promoter analyses. In this study, we annotated individual genes downstream of TBR1 and investigated any associations with ASDs through extensive literature searches. Of 124 TBR1 target genes, 23 were reported to be associated with ASDs.", "Among these 24 genes, four transcription factors Auts2, Nfia, Nr4a2, and Sox5 were found, suggesting that TBR1 controls a transcriptional cascade relevant to autism pathogenesis. A further five of the 24 genes (Cd44, Cdh8, Cntn6, Gpc6, and Ntng1) encode membrane proteins that regulate cell adhesion and axonal outgrowth. These genes likely contribute to the role of TBR1 in regulation of neuronal migration and axonal extension. Besides, decreases in Grin2b expression and increases in Gad1 expression imply that neuronal activity may be aberrant in Tbr1 deficient mice. These analyses provide direction for future experiments to reveal the pathogenic mechanism of autism.", "The activity-regulated gene expression of transcription factors is required for neural plasticity and function in response to neuronal stimulation. T-brain-1 (TBR1), a critical neuron-specific transcription factor for forebrain development, has been recognized as a high-confidence risk gene for autism spectrum disorders. ", "Disruptive mutations in the TBR1 gene have been repeatedly identified in patients with autism spectrum disorders (ASDs). ", "Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism.", "T-brain-1 (TBR1) is a brain-specific T-box transcription factor. In 1995, Tbr1 was first identified from a subtractive hybridization that compared mouse embryonic and adult telencephalons. Previous studies of Tbr1 (-∕-) mice have indicated critical roles for TBR1 in the development of the cerebral cortex, amygdala, and olfactory bulb. Neuronal migration and axonal projection are two important developmental features controlled by TBR1. Recently, recurrent de novo disruptive mutations in the TBR1 gene have been found in patients with autism spectrum disorders (ASDs). Human genetic studies have identified TBR1 as a high-confidence risk factor for ASDs.", "TBR1 regulates autism risk genes in the developing neocortex.", "De novo TBR1 mutations in sporadic autism disrupt protein functions.", "In humans, PAX6, EOMES, and TBR1 have been linked to intellectual disability and autism.", "It is therefore possible that TBR1 controls the expression of other autism risk factors.", "Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain.", "T-Brain-1 (TBR1), a causative gene in autism spectrum disorders (ASDs), encodes a brain-specific T-box transcription factor.", "Recently, recurrent de novo disruptive mutations in the TBR1 gene have been found in patients with autism spectrum disorders (ASDs).", "Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism.", "Among these 24 genes, four transcription factors Auts2, Nfia, Nr4a2, and Sox5 were found, suggesting that TBR1 controls a transcriptional cascade relevant to autism pathogenesis.", "Disruptive mutations in the TBR1 gene have been repeatedly identified in patients with autism spectrum disorders (ASDs).", "T-Brain-1 (TBR1), a causative gene in autism spectrum disorders (ASDs), encodes a brain-specific T-box transcription factor", "Among these 24 genes, four transcription factors Auts2, Nfia, Nr4a2, and Sox5 were found, suggesting that TBR1 controls a transcriptional cascade relevant to autism pathogenesis", "Disruptive mutations in the TBR1 gene have been repeatedly identified in patients with autism spectrum disorders (ASDs)", "Among these 24 genes, four transcription factors Auts2, Nfia, Nr4a2, and Sox5 were found, suggesting that TBR1 controls a transcriptional cascade relevant to autism pathogenesis.", "It is therefore possible that TBR1 controls the expression of other autism risk factors.", "TBR1 regulates autism risk genes in the developing neocortex.", "De novo TBR1 mutations in sporadic autism disrupt protein functions.", "Our findings highlight a TBR1-regulated network of ASD genes in the developing neocortex that are relatively intolerant to LoF mutations, indicating that these genes may play critical roles in normal cortical development." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24441682", "http://www.ncbi.nlm.nih.gov/pubmed/26578866", "http://www.ncbi.nlm.nih.gov/pubmed/27325115", "http://www.ncbi.nlm.nih.gov/pubmed/25600067", "http://www.ncbi.nlm.nih.gov/pubmed/25309323", "http://www.ncbi.nlm.nih.gov/pubmed/23431145", "http://www.ncbi.nlm.nih.gov/pubmed/25232744" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000067877", "http://www.uniprot.org/uniprot/TBR1_MOUSE", "http://www.disease-ontology.org/api/metadata/DOID:12849", "http://www.disease-ontology.org/api/metadata/DOID:0060042", "http://www.disease-ontology.org/api/metadata/DOID:0060041", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001321", "http://www.uniprot.org/uniprot/TBR1_HUMAN" ]

[ "The MCM2-7 complex is a ring-shaped heterohexamer helicase, that unwinds the DNA double helix ahead of the other replication machinery. During pre-replication complex (pre-RC) formation, origin recognition complex (ORC), Cdc6, and Cdt1 cooperatively load a double-hexameric MCM2-7 complex onto DNA. Loading of MCM2-7 is a prerequisite for licensing of eukaryotic DNA replication. During S phase MCM2-7 functions as part of the replicative helicase but within the pre-RC MCM2-7 is inactive." ]

[]

[ "The role of the MCM2-7 helicase complex during Arabidopsis seed development.", "The MINICHROMOSOME MAINTENANCE 2-7 (MCM2-7) complex, a ring-shaped heterohexamer, unwinds the DNA double helix ahead of the other replication machinery. ", "MCM7 is one of the subunits of the MCM2-7 complex that plays a critical role in DNA replication initiation and cell proliferation of eukaryotic cells. After forming the pre-replication complex (pre-RC) with other components, the MCM2-7 complex is activated by DDK/cyclin-dependent kinase to initiate DNA replication. ", "Hexameric complexes of the six related Mcm2-7 proteins form the core of the replicative helicase. ", "MCM-BP regulates unloading of the MCM2-7 helicase in late S phase.", "Origins of DNA replication are licensed by recruiting MCM2-7 to assemble the prereplicative complex (pre-RC). ", "Mec1 is one of multiple kinases that prime the Mcm2-7 helicase for phosphorylation by Cdc7.", "Activation of the eukaryotic replicative DNA helicase, the Mcm2-7 complex, requires phosphorylation by Cdc7/Dbf4 (Dbf4-dependent kinase or DDK), which, in turn, depends on prior phosphorylation of Mcm2-7 by an unknown kinase (or kinases)", "The heterohexameric complex of minichromosome maintenance proteins (MCM2-7 complex) plays an essential role in origin licensing. ", "A double-hexameric MCM2-7 complex is loaded onto origin DNA during licensing of eukaryotic DNA replication.", "During pre-replication complex (pre-RC) formation, origin recognition complex (ORC), Cdc6, and Cdt1 cooperatively load the 6-subunit mini chromosome maintenance (MCM2-7) complex onto DNA. Loading of MCM2-7 is a prerequisite for DNA licensing that restricts DNA replication to once per cell cycle. During S phase MCM2-7 functions as part of the replicative helicase but within the pre-RC MCM2-7 is inactive. ", "The quaternary structure of MCM2-7 changes during pre-RC formation: MCM2-7 before loading is a single hexamer in solution but is transformed into a double-hexamer during pre-RC formation. Using electron microscopy (EM), we observed that loaded MCM2-7 encircles DNA. The loaded MCM2-7 complex can slide on DNA, and sliding is not directional. Our results provide key insights into mechanisms of pre-RC formation and have important implications for understanding the role of the MCM2-7 in establishment of bidirectional replication forks.", "Cdt1 is required for loading the replicative DNA helicase MCM2/7, a process known as DNA replication licensing.", "Both the Mcm4/6/7 and Mcm2~7 complexes stimulate RNA primer synthesis by DNA primase in vitro.", "MCM7 is one of the subunits of the MCM2-7 complex that plays a critical role in DNA replication initiation and cell proliferation of eukaryotic cells", "These biochemical data suggest that phosphorylation of MCM4 at these sites by CDK plays a direct role in dislodging MCM2-7 from chromatin and/or preventing re-loading of the complex to chromatin", "The heterohexameric complex of minichromosome maintenance proteins (MCM2-7 complex) plays an essential role in origin licensing", "In this report, we have used bimolecular fluorescence complementation assays in HeLa cells to examine the interactions between Cdc45, Mcm2-7, and the GINS complex (collectively called the CMG complex), which seem to play a key role in the formation and progression of replication forks", "The origin recognition complex (ORC) of Saccharomyces cerevisiae binds origin DNA and cooperates with Cdc6 and Cdt1 to load the replicative helicase MCM2-7 onto DNA", "The CMG (Cdc45·Mcm2-7·GINS) complex, which is composed of Cdc45, Mcm2-7, and the GINS (Go-Ichi-Ni-San) complex consisting of Sld5 and Psf1 to Psf3, is recruited by Cdc6 and Cdt1 onto origins bound by the heterohexameric origin recognition complex (ORC) and functions as a replicative helicase", "MCM7 is one of the subunits of the MCM2-7 complex that plays a critical role in DNA replication initiation and cell proliferation of eukaryotic cells.", "The MCM2-7 complex, which may act as a replicative helicase during DNA synthesis, plays a central role in S-phase genome stability.", "The heterohexameric complex of minichromosome maintenance proteins (MCM2-7 complex) plays an essential role in origin licensing.", "In this work, we demonstrate that subunits of the MCM2-7 complex are coordinately expressed during Arabidopsis (Arabidopsis thaliana) development and are abundant in proliferating and endocycling tissues, indicative of a role in DNA replication.", "Cdc6 and Cdt1 play an essential role in DNA replication initiation by loading the Mcm2-7 complex, which is required for unwinding the DNA helix, onto chromosomal origins.", "Inspired by the role of the rigid region in promoters, we speculate that the rigid replication origins may facilitate binding of proteins, including the origin recognition complex (ORC), Cdc6, Cdt1 and the MCM2-7 complex.", "Overall, our data identify a new Mcm protein, which does not form part of the Mcm2-7 complex and which is only structure-bound during S phase, thus suggesting its specific role in DNA replication.", "Using Mcm4/6/7 as a tool, we reveal a role for nucleotide binding by Saccharomyces cerevisiae Mcm2 in modulating DNA binding by Mcm complexes.", "The ORC/Cdc6/MCM2-7 complex facilitates MCM2-7 dimerization during prereplicative complex formation.", "Here, structural evidence for intermediates consisting of an ORC-Cdc6-Mcm2-7 complex and an ORC-Cdc6-Mcm2-7-Mcm2-7 complex are reported, which together provide new insights into DNA licensing.", "Our results provide key insights into mechanisms of pre-RC formation and have important implications for understanding the role of the MCM2-7 in establishment of bidirectional replication forks..", "The Mcm proteins are a family of six homologous proteins (Mcm2-7) that play an important role in DNA replication." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19805216", "http://www.ncbi.nlm.nih.gov/pubmed/23817338", "http://www.ncbi.nlm.nih.gov/pubmed/22045335", "http://www.ncbi.nlm.nih.gov/pubmed/24234446", "http://www.ncbi.nlm.nih.gov/pubmed/23376927", "http://www.ncbi.nlm.nih.gov/pubmed/17314092", "http://www.ncbi.nlm.nih.gov/pubmed/21070963", "http://www.ncbi.nlm.nih.gov/pubmed/12059957", "http://www.ncbi.nlm.nih.gov/pubmed/12694531", "http://www.ncbi.nlm.nih.gov/pubmed/12087101", "http://www.ncbi.nlm.nih.gov/pubmed/25319829", "http://www.ncbi.nlm.nih.gov/pubmed/18824790", "http://www.ncbi.nlm.nih.gov/pubmed/19481678", "http://www.ncbi.nlm.nih.gov/pubmed/19357199", "http://www.ncbi.nlm.nih.gov/pubmed/23518502", "http://www.ncbi.nlm.nih.gov/pubmed/24947836", "http://www.ncbi.nlm.nih.gov/pubmed/19540846", "http://www.ncbi.nlm.nih.gov/pubmed/22918581", "http://www.ncbi.nlm.nih.gov/pubmed/23720738", "http://www.ncbi.nlm.nih.gov/pubmed/26582917", "http://www.ncbi.nlm.nih.gov/pubmed/26940553", "http://www.ncbi.nlm.nih.gov/pubmed/15522891", "http://www.ncbi.nlm.nih.gov/pubmed/18606811", "http://www.ncbi.nlm.nih.gov/pubmed/12527764", "http://www.ncbi.nlm.nih.gov/pubmed/15108800", "http://www.ncbi.nlm.nih.gov/pubmed/15653632", "http://www.ncbi.nlm.nih.gov/pubmed/15286659", "http://www.ncbi.nlm.nih.gov/pubmed/23864661", "http://www.ncbi.nlm.nih.gov/pubmed/19270162", "http://www.ncbi.nlm.nih.gov/pubmed/23977294", "http://www.ncbi.nlm.nih.gov/pubmed/22351771", "http://www.ncbi.nlm.nih.gov/pubmed/21799014", "http://www.ncbi.nlm.nih.gov/pubmed/21460226", "http://www.ncbi.nlm.nih.gov/pubmed/19910535", "http://www.ncbi.nlm.nih.gov/pubmed/21196493" ]

[]

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[ "A novel algorithm, fast and accurate classification of sequences (FACSs), is introduced that can accurately and rapidly classify sequences as belonging or not belonging to a reference sequence. Classification of DNA sequences using Bloom filters Lighter is a fast, memory-efficient tool for correcting sequencing errors.", "A novel algorithm, fast and accurate classification of sequences (FACSs), is introduced that can accurately and rapidly classify sequences as belonging or not belonging to a reference sequence. Classification of DNA sequences using Bloom filters. Further, we note that Bloom filters would be suitable to implicitly store spaced seeds and be tolerant to sequencing errors. Lighter avoids counting k-mers. Fast lossless compression via cascading Bloom filters. ", "A novel algorithm, fast and accurate classification of sequences (FACSs), is introduced that can accurately and rapidly classify sequences as belonging or not belonging to a reference sequence. Classification of DNA sequences using Bloom filters. Instead, it uses a pair of Bloom filters, one holding a sample of the input k-mers and the other holding k-mers likely to be correct. Fast lossless compression via cascading Bloom filters. Lighter is a fast, memory-efficient tool for correcting sequencing errors. ", "A novel algorithm, fast and accurate classification of sequences (FACSs), is introduced that can accurately and rapidly classify sequences as belonging or not belonging to a reference sequence. Classification of DNA sequences using Bloom filters. Instead, it uses a pair of Bloom filters, one holding a sample of the input k-mers and the other holding k-mers likely to be correct. Lighter is a fast, memory-efficient tool for correcting sequencing errors. Lighter avoids counting k-mers. ", "Bloom Filters (BFs) reduce the memory footprint required to store millions of k-mers while allowing for fast set containment queries, at the cost of a low false positive rate (FPR). Cascading Bloom filters have been used to improve the memory usage and speed of DNA sequence compression.", "Further, we note that Bloom filters would be suitable to implicitly store spaced seeds and be tolerant to sequencing errors. It uses a pair of cache oblivious Bloom filters, one holding a uniform sample of [Formula: see text]-spaced sequenced [Formula: see text]-mers and the other holding [Formula: see text]-mers classified as likely correct, using a simple statistical test." ]

[ "storage", "compression", "alignment-free comparisons" ]

[ "A novel algorithm, fast and accurate classification of sequences (FACSs), is introduced that can accurately and rapidly classify sequences as belonging or not belonging to a reference sequence. ", "Classification of DNA sequences using Bloom filters", "Lighter is a fast, memory-efficient tool for correcting sequencing errors. Lighter avoids counting k-mers. Instead, it uses a pair of Bloom filters, one holding a sample of the input k-mers and the other holding k-mers likely to be correct.", "Fast lossless compression via cascading Bloom filters", "In contrast to reference-based methods that first align reads to the genome, we hash all reads into Bloom filters to encode, and decode by querying the same Bloom filters using read-length subsequences of the reference genome. Further compression is achieved by using a cascade of such filters", "Using cascading Bloom filters to improve the memory usage for de Brujin graphs", "In this work, we show how to reduce the memory required by the data structure of Chikhi and Rizk (WABI'12) that represents de Brujin graphs using Bloom filters.", "We introduce a novel hash-based method for constructing the string graph. We use incremental hashing, and specifically a modification of the Karp-Rabin fingerprint, and Bloom filters", "Further, we note that Bloom filters would be suitable to implicitly store spaced seeds and be tolerant to sequencing errors.", " It uses a pair of cache oblivious Bloom filters, one holding a uniform sample of [Formula: see text]-spaced sequenced [Formula: see text]-mers and the other holding [Formula: see text]-mers classified as likely correct, using a simple statistical test.", "Improving Bloom Filter Performance on Sequence Data Using k-mer Bloom Filters", "BFs reduce the memory footprint required to store millions of k-mers while allowing for fast set containment queries, at the cost of a low false positive rate (FPR).", "We consider several variants of such k-mer Bloom filters (kBFs), derive theoretical upper bounds for their FPR, and discuss their range of applications and limitations.", "Fast lossless compression via cascading Bloom filters.", "Fast lossless compression via cascading Bloom filters." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26539459", "http://www.ncbi.nlm.nih.gov/pubmed/27412092", "http://www.ncbi.nlm.nih.gov/pubmed/25252952", "http://www.ncbi.nlm.nih.gov/pubmed/24565280", "http://www.ncbi.nlm.nih.gov/pubmed/27828710", "http://www.ncbi.nlm.nih.gov/pubmed/20472541", "http://www.ncbi.nlm.nih.gov/pubmed/25398208", "http://www.ncbi.nlm.nih.gov/pubmed/25183486" ]

[]

[]

[ "Qsymia pill includes phentermine and topiramate. It is used for treatment of obesity." ]

[ "phentermine", "topiramate" ]

[ "OBJECTIVE: To quantify the incremental cost-effectiveness of Qsymia (phentermine and topiramate extended-release) for health-related quality of life improvements.", "The intervention was diet and lifestyle advice plus the recommended dose of Qsymia (phentermine 7.5 mg plus topiramate 46.0 mg) vs. control, which included diet and lifestyle advice plus placebo.", "These include combinations (at low dose) of existing drugs, e.g., bupropion + naltrexone (Contrave), phentermine + topiramate (Qsymia), higher doses of existing drugs licensed for other indications (liraglutide, 3 mg), and new entities (lorcaserin).", "RECENT FINDINGS: Two new antiobesity drugs - naltrexone/bupropion (Contrave) and liraglutide (Saxenda) - were approved by the US Food and Drug Administration in 2014 and join four other approved obesity medications, including phentermine/topiramate XR (Qsymia) and lorcaserin (Belviq), to form the largest number of medications available for the treatment of obesity.", "Adding to the current available pharmacotherapies for obesity, the Food and Drug Administration has recently approved 2 new combination medications known as lorcaserin (Belviq) and phentermine-topiramate (Qsymia).", "After a long period of failure in development, two new medications (phentermine/topiramate ER - Qsymia™ and lorcaserin - Belviq®) have been approved by the US Food and Drug Administration for long-term weight management in persons with obesity (BMI ≥ 30 kg/m(2)) or in overweight persons (BMI ≥ 27 kg/m(2)) with comorbidities.", "The intervention was diet and lifestyle advice plus the recommended dose of Qsymia (phentermine 7.5 mg plus topiramate 46.0 mg) vs. control, which included diet and lifestyle advice plus placebo", "Current antiobesity medications and pharmacological strategies will be reviewed.Two new antiobesity drugs - naltrexone/bupropion (Contrave) and liraglutide (Saxenda) - were approved by the US Food and Drug Administration in 2014 and join four other approved obesity medications, including phentermine/topiramate XR (Qsymia) and lorcaserin (Belviq), to form the largest number of medications available for the treatment of obesity.", "Almost a decade after the Food and Drug Administration approved the first weight loss medication, it recently approved two novel anti-obesity drugs Belviq (lorcaserin) and Qsymia (topiramate and phentermine), thus signalling the beginning of a new era in the pharmacotherapy of obesity.", "Obesity is a public health crisis affecting approximately more than 33% of Americans and costing the healthcare system more than $190 billion annually.To review the 2 new drugs that were recently approved by the US Food and Drug Administration (FDA) for the treatment of obesity, lorcaserin HCl (Belviq) and phentermine/topiramate (Qsymia) and their potential impact on the treatment of obese patients.Lifestyle modification is the first and mainstay treatment for obesity.", "Adding to the current available pharmacotherapies for obesity, the Food and Drug Administration has recently approved 2 new combination medications known as lorcaserin (Belviq) and phentermine-topiramate (Qsymia).", "Two new antiobesity drugs - naltrexone/bupropion (Contrave) and liraglutide (Saxenda) - were approved by the US Food and Drug Administration in 2014 and join four other approved obesity medications, including phentermine/topiramate XR (Qsymia) and lorcaserin (Belviq), to form the largest number of medications available for the treatment of obesity.", "To review the 2 new drugs that were recently approved by the US Food and Drug Administration (FDA) for the treatment of obesity, lorcaserin HCl (Belviq) and phentermine/topiramate (Qsymia) and their potential impact on the treatment of obese patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23590816", "http://www.ncbi.nlm.nih.gov/pubmed/23531960", "http://www.ncbi.nlm.nih.gov/pubmed/24222976", "http://www.ncbi.nlm.nih.gov/pubmed/23565717", "http://www.ncbi.nlm.nih.gov/pubmed/25826792", "http://www.ncbi.nlm.nih.gov/pubmed/25661549", "http://www.ncbi.nlm.nih.gov/pubmed/23039320", "http://www.ncbi.nlm.nih.gov/pubmed/26313898", "http://www.ncbi.nlm.nih.gov/pubmed/24991373", "http://www.ncbi.nlm.nih.gov/pubmed/23625271", "http://www.ncbi.nlm.nih.gov/pubmed/24986038" ]

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[]

[ "Yes. Sonidegib, an oral smoothened antagonist, is indicated for the treatment of adults with locally advanced basal cell carcinoma (laBCC) who are not candidates for surgery or radiation therapy, or adults with recurrent laBCC following surgery or radiation therapy." ]

[ "yes" ]

[ "This review of the literature aims to describe previous and current treatment options for oral therapy in locally advanced and metastatic NMSC otherwise unamenable to standard treatment. Oral Smoothened (Smo) inhibitors Vismodegib, Sonidegib, and Taladegib have shown to be effective in several trials. ", "Sonidegib is a new smoothened inhibitor currently under investigation for treatment of laBCC, which demonstrates a comparable safety profile to vismodegib. ", "The recent development of novel hedgehog pathway inhibitors for high-risk BCC (including oral vismodegib and sonidegib) may represent a paradigm shift towards medical management of NMSC.", "Sonidegib (Odomzo®), an oral smoothened (SMO) antagonist, is indicated for the treatment of adults with locally advanced basal cell carcinoma (laBCC) who are not candidates for surgery or radiation therapy, or adults with recurrent laBCC following surgery or radiation therapy. ", "The acceptable benefit-risk profile of sonidegib, along with a paucity of treatment options and the seriousness of the condition, makes sonidegib an emerging option for the treatment of adults with laBCC that has recurred following surgery or radiation therapy, or in those who are not candidates for surgery or radiation therapy.", "Sonidegib phosphate: new approval for basal cell carcinoma.", "Sonidegib, a novel smoothened inhibitor for the treatment of advanced basal cell carcinoma.", "Serious adverse events occurred in 11 (14%) of 79 patients in the 200 mg group and 45 (30%) of 150 patients in the 800 mg group.The benefit-to-risk profile of 200 mg sonidegib might offer a new treatment option for patients with advanced basal cell carcinoma, a population that is difficult to treat.Novartis Pharmaceuticals Corporation.<CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</", "However, to date, Hh inhibitors, specifically those targeting Smoothened [such as vismodegib, BMS-833923, saridegib (IPI-926), sonidegib/erismodegib (LDE225), PF-04449913, LY2940680, LEQ 506, and TAK-441], have demonstrated good efficacy as monotherapy in patients with basal cell carcinoma and medulloblastoma, but have shown limited activity in other tumor types.", "The hedgehog pathway inhibitor sonidegib demonstrated meaningful tumor shrinkage in more than 90% of patients with locally advanced basal cell carcinoma (BCC) or metastatic BCC in the BCC Outcomes with LDE225 Treatment study.This report provides long-term follow-up data collected up to 12 months after the last patient was randomized.In this multicenter, randomized, double-blind phase II study, patients were randomized 1:2 to sonidegib 200 or 800 mg. The primary end point was objective response rate assessed by central review.Objective response rates in the 200- and 800-mg arms were 57.6% and 43.8% in locally advanced B", "Serious adverse events occurred in 11 (14%) of 79 patients in the 200 mg group and 45 (30%) of 150 patients in the 800 mg group.The benefit-to-risk profile of 200 mg sonidegib might offer a new treatment option for patients with advanced basal cell carcinoma, a population that is difficult to treat.Novartis Pharmaceuticals Corporation.<CopyrightInformation>Copyright © 2015 Elsevier Ltd. All rights reserved.</C", "Oral sonidegib is approved in Switzerland for the treatment of adult patients with advanced basal cell carcinoma (BCC) and in the US and EU for the treatment of adult patients with locally advanced BCC that has recurred following surgery or radiation therapy, or those who are not candidates for surgery or radiation therapy.", "Sonidegib phosphate: new approval for basal cell carcinoma." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26867946", "http://www.ncbi.nlm.nih.gov/pubmed/27189494", "http://www.ncbi.nlm.nih.gov/pubmed/27636236", "http://www.ncbi.nlm.nih.gov/pubmed/26566923", "http://www.ncbi.nlm.nih.gov/pubmed/26780190", "http://www.ncbi.nlm.nih.gov/pubmed/26546616", "http://www.ncbi.nlm.nih.gov/pubmed/27695345", "http://www.ncbi.nlm.nih.gov/pubmed/25981810", "http://www.ncbi.nlm.nih.gov/pubmed/27538055", "http://www.ncbi.nlm.nih.gov/pubmed/26833519", "http://www.ncbi.nlm.nih.gov/pubmed/26323341", "http://www.ncbi.nlm.nih.gov/pubmed/24523439", "http://www.ncbi.nlm.nih.gov/pubmed/27511905", "http://www.ncbi.nlm.nih.gov/pubmed/24773312", "http://www.ncbi.nlm.nih.gov/pubmed/25646180", "http://www.ncbi.nlm.nih.gov/pubmed/27067394", "http://www.ncbi.nlm.nih.gov/pubmed/27096888", "http://www.ncbi.nlm.nih.gov/pubmed/26614022", "http://www.ncbi.nlm.nih.gov/pubmed/27376162" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0007117", "o": "http://linkedlifedata.com/resource/umls/label/A18627521" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18627521", "o": "basal cell carcinomas" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0007117", "o": "http://linkedlifedata.com/resource/umls/label/A0474410" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0474410", "o": "basal cell carcinoma" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0007117", "o": "BCC" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002280", "http://www.disease-ontology.org/api/metadata/DOID:2513" ]

[ "MethPed", "The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier. MethPed is available via Bioconductor: http://bioconductor.org/packages/MethPed/", "The MethPed classifier, which is a multiclass random forest algorithm, based on DNA methylation profiles from many subgroups of pediatric brain tumors" ]

[ "MethPed" ]

[ "MethPed: an R package for the identification of pediatric brain tumor subtypes", "We have therefore developed the MethPed classifier, which is a multiclass random forest algorithm, based on DNA methylation profiles from many subgroups of pediatric brain tumors", "The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier. MethPed is available via Bioconductor: http://bioconductor.org/packages/MethPed/", "DNA methylation profiling of pediatric brain tumors offers a new way of diagnosing and subgrouping these tumors which improves current clinical diagnostics based on histopathology. We have therefore developed the MethPed classifier, which is a multiclass random forest algorithm, based on DNA methylation profiles from many subgroups of pediatric brain tumors", "e developed an R package that implements the MethPed classifier, making it easily available and accessible. The package can be used for estimating the probability that an unknown sample belongs to each of nine pediatric brain tumor diagnoses/subgroups", "The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier", "MethPed: an R package for the identification of pediatric brain tumor subtypes.", "MethPed: an R package for the identification of pediatric brain tumor subtypes.", "The MethPed R package efficiently classifies pediatric brain tumors using the developed MethPed classifier.", "We developed an R package that implements the MethPed classifier, making it easily available and accessible." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27370569" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0220603", "o": "childhood brain tumor" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0220603", "o": "http://linkedlifedata.com/resource/umls/label/A4343117" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A4343117", "o": "childhood brain tumor" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0684010", "o": "R." } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010372" ]

[ "CAMUR is a new method that extracts multiple and equivalent classification models. CAMUR iteratively computes a rule-based classification model, calculates the power set of the genes present in the rules, iteratively eliminates those combinations from the data set, and performs again the classification procedure until a stopping criterion is verified. CAMUR includes an ad-hoc knowledge repository (database) and a querying tool. Three different types of RNA-seq data sets (Breast, Head and Neck, and Stomach Cancer) were analyzed from The Cancer Genome Atlas (TCGA) and CAMUR and its models were validated also on non-TCGA data. Experimental results show the efficacy of CAMUR by obtaining several reliable equivalent classification models, from which the most frequent genes, their relationships, and the relation with a particular cancer are deduced." ]

[]

[ "CAMUR: Knowledge extraction from RNA-seq cancer data through equivalent classification rules", "CAMUR, a new method that extracts multiple and equivalent classification models. CAMUR iteratively computes a rule-based classification model, calculates the power set of the genes present in the rules, iteratively eliminates those combinations from the data set, and performs again the classification procedure until a stopping criterion is verified. CAMUR includes an ad-hoc knowledge repository (database) and a querying tool.We analyze three different types of RNA-seq data sets (Breast, Head and Neck, and Stomach Cancer) from The Cancer Genome Atlas (TCGA) and we validate CAMUR and its models also on non-TCGA data. Our experimental results show the efficacy of CAMUR: we obtain several reliable equivalent classification models, from which the most frequent genes, their relationships, and the relation with a particular cancer are deduced", "CAMUR includes an ad-hoc knowledge repository (database) and a querying tool.We analyze three different types of RNA-seq data sets (Breast, Head and Neck, and Stomach Cancer) from The Cancer Genome Atlas (TCGA) and we validate CAMUR and its models also on non-TCGA data.", "CAMUR: Knowledge extraction from RNA-seq cancer data through equivalent classification rules.", "We propose CAMUR, a new method that extracts multiple and equivalent classification models." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26519501" ]

[]

[]

[ "The markers that are screened with the triple test for the detection of syndromes in fetus are:\n1) alpha-fetoprotein (AFP), \n2) beta-chorionic gonadotrophin (beta-CG) and \n3) unconjugated oestriol (uE3)." ]

[ "alpha-fetoprotein", "AFP", "α-fetoprotein", "beta-chorionic gonadotrophin", "beta-CG", "unconjugated oestriol", "uE3" ]

[ "Our study aimed at calculation and validation of the triple marker medians used in screening Egyptian females as well as to recommend programme conventions to unify screening in this country.", "Chorionic gonadotropin (CG), α-fetoprotein (AFP) and unconjugated oestriol (uE3) were measured on Siemens Immulite analyzer.", "Triple test screening for Down syndrome: an Egyptian-tailored study.", "The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women.", "Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.", "The aim of this prospective study was to compare triple test screening (alpha-fetoprotein, beta-chorionic gonadotrophin and unconjugated oestriol) with amniocentesis in the detection of fetuses with Down's syndrome in women of 35 years of age or more. ", "The aim of this prospective study was to compare triple test screening (alpha-fetoprotein, beta-chorionic gonadotrophin and unconjugated oestriol) with amniocentesis in the detection of fetuses with Down's syndrome in women of 35 years of age or more.", "None of the other five markers added more than 2% detection for the same false-positive rate.The performance of screening using maternal age and serum-free beta-hCG and PAPP-A at 10 weeks of pregnancy was better than the double test (alpha-fetoprotein and hCG with maternal age) and similar to the triple test (alpha-fetoprotein, unconjugated oestriol and hCG with maternal age) at 15-22 weeks.", "To make recommendations to physicians providing prenatal care on (1) whether prenatal screening for and diagnosis of Down syndrome (DS) is advisable and (2) alternative screening and diagnosis manoeuvres.\"Triple-marker\" screening of maternal serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol; fetal ultrasonographic examination; amniocentesis; and chorionic villus sampling (CVS).Accuracy of detection of DS in fetuses, and risks to the mother, including psychologic distress, and to the fetus from the screening and diagnostic interventions.A MEDLINE search for relevant a", "A decision analytic model was designed for women at increased risk for a DS fetus due to either advanced maternal age (AMA) or a positive expanded maternal serum alpha fetoprotein (MSAFP) screening test, also known as a triple screen (+triple) test.", "These tests have a limited detection rate for Down syndrome: approximately 40% for hCG or free beta-subunit alone, approximately 60% for the triple screen test, and approximately 70% for the quadruple marker test, all at 5%, or a relatively high, false-positive rate.", "Serum human chorionic gonadotropin (hCG) and hCG free beta-subunit tests are used in combination with unconjugated estriol and alpha-fetoprotein in the triple screen test, and with the addition of inhibin-A in the quadruple marker test for detecting Down syndrome in the second trimester of pregnancy.", "Initial and revised screen-positive rates and detection rates were reviewed for women undergoing triple-marker testing (maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21699408", "http://www.ncbi.nlm.nih.gov/pubmed/10585342", "http://www.ncbi.nlm.nih.gov/pubmed/8624312", "http://www.ncbi.nlm.nih.gov/pubmed/7544745", "http://www.ncbi.nlm.nih.gov/pubmed/18839465", "http://www.ncbi.nlm.nih.gov/pubmed/15512289", "http://www.ncbi.nlm.nih.gov/pubmed/14669430", "http://www.ncbi.nlm.nih.gov/pubmed/10521756", "http://www.ncbi.nlm.nih.gov/pubmed/16378329", "http://www.ncbi.nlm.nih.gov/pubmed/7485343", "http://www.ncbi.nlm.nih.gov/pubmed/9166168", "http://www.ncbi.nlm.nih.gov/pubmed/25330176", "http://www.ncbi.nlm.nih.gov/pubmed/8650125", "http://www.ncbi.nlm.nih.gov/pubmed/18306921", "http://www.ncbi.nlm.nih.gov/pubmed/11084551", "http://www.ncbi.nlm.nih.gov/pubmed/8630836" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0015965", "o": "Fetus" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0015965", "o": "http://linkedlifedata.com/resource/umls/label/A1392741" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A1392741", "o": "fetus" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0554819", "o": "triple test" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0554819", "o": "http://linkedlifedata.com/resource/umls/label/A18640308" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18640308", "o": "triple test" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005333", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062145", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011258", "http://amigo.geneontology.org/amigo/term/GO:0007565" ]

[ "TAD domain is a transcription activation domain found in transcription factors." ]

[ "transcription activation domain", "transactivation domain", "trans-activating domain" ]

[ " Thus, nuclear ERK5 activates transcription factors by either direct phosphorylation or acting as co-activator thanks to a unique transcriptional activation TAD domain located at its C-terminal tail. ", "Although lacking kinase activity, these forms activate transcription by interacting with transcription factors through the TAD domain. ", "Myc has an N-terminal transcription activation domain (TAD) that interacts with various coactivators and a C-terminal basic-helix-loop-helix-leucine zipper (bHLHZip) domain required for E box-specific DNA-binding and heterodimerization with its obligatory bHLHZip protein partner Max. ", "p300 worked synergistically with MRTF-A to activate the transcription of MYH9, MYL9 and CYR61. As identified by co-IP, p300 interacted with the C-terminal TAD domain of MRTF-A.", "To investigate further the role of cytoplasmic sequestration of p53 in its inhibition by the E1B 55-kDa protein we systematically examined domains in both the Ad12 55-kDa protein and p53 that underpin their colocalization in the cytoplasmic body and show that the N-terminal transactivation domain (TAD) of p53 is essential for retaining p53 in the cytoplasmic body.", "Physical interaction between the transactivation domain (TAD) of the mixed-lineage leukemia protein (MLL) and the KIX domain of the cyclic-AMP response element binding protein (CREB) binding protein (CBP) is necessary for MLL-mediated transcriptional activation.", "The IE62 possesses several domains essential for trans-activation, including an acidic trans-activation domain (TAD), a serine-rich tract (SRT), and binding domains for USF, TFIIB, and TATA box binding protein (TBP)", "To investigate further the role of cytoplasmic sequestration of p53 in its inhibition by the E1B 55-kDa protein we systematically examined domains in both the Ad12 55-kDa protein and p53 that underpin their colocalization in the cytoplasmic body and show that the N-terminal transactivation domain (TAD) of p53 is essential for retaining p53 in the cytoplasmic body.", "We have characterized two transcription activation domains (TADs) in Da, called activation domain 1 (AD1) and loop-helix (LH), and have evaluated their roles in promoting peripheral neurogenesis.", "Particularly, the intrinsic histone acetyltransferase (HAT) activity and transactivation domains (TAD) play essential roles for their coactivating function." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26537679", "http://www.ncbi.nlm.nih.gov/pubmed/17404593", "http://www.ncbi.nlm.nih.gov/pubmed/17332356", "http://www.ncbi.nlm.nih.gov/pubmed/27196604", "http://www.ncbi.nlm.nih.gov/pubmed/9826771", "http://www.ncbi.nlm.nih.gov/pubmed/27713878", "http://www.ncbi.nlm.nih.gov/pubmed/15003254", "http://www.ncbi.nlm.nih.gov/pubmed/16101299", "http://www.ncbi.nlm.nih.gov/pubmed/10490619", "http://www.ncbi.nlm.nih.gov/pubmed/18243147", "http://www.ncbi.nlm.nih.gov/pubmed/14645574", "http://www.ncbi.nlm.nih.gov/pubmed/11223263", "http://www.ncbi.nlm.nih.gov/pubmed/17804822", "http://www.ncbi.nlm.nih.gov/pubmed/22949507", "http://www.ncbi.nlm.nih.gov/pubmed/26147604", "http://www.ncbi.nlm.nih.gov/pubmed/24019758", "http://www.ncbi.nlm.nih.gov/pubmed/17233836", "http://www.ncbi.nlm.nih.gov/pubmed/27502417", "http://www.ncbi.nlm.nih.gov/pubmed/26029824", "http://www.ncbi.nlm.nih.gov/pubmed/8086335", "http://www.ncbi.nlm.nih.gov/pubmed/24675874", "http://www.ncbi.nlm.nih.gov/pubmed/15663936", "http://www.ncbi.nlm.nih.gov/pubmed/16226227", "http://www.ncbi.nlm.nih.gov/pubmed/25961797", "http://www.ncbi.nlm.nih.gov/pubmed/26476216", "http://www.ncbi.nlm.nih.gov/pubmed/19220000", "http://www.ncbi.nlm.nih.gov/pubmed/19319663", "http://www.ncbi.nlm.nih.gov/pubmed/15641800", "http://www.ncbi.nlm.nih.gov/pubmed/8561893", "http://www.ncbi.nlm.nih.gov/pubmed/16596634", "http://www.ncbi.nlm.nih.gov/pubmed/20969867", "http://www.ncbi.nlm.nih.gov/pubmed/8806843", "http://www.ncbi.nlm.nih.gov/pubmed/23110116" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0280090", "o": "TAD" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012380" ]

[ "Long noncoding RNAs (lncRNAs) are involved in a variety of biological processes, including the epigenetic control of gene expression, post-transcriptional regulation of mRNA, and cellular proliferation and differentiation" ]

[]

[ "long noncoding RNAs (lncRNAs) have mainly been studied using cultured cell lines, and this approach has revealed the involvement of lncRNAs in a variety of biological processes, including the epigenetic control of gene expression, post-transcriptional regulation of mRNA, and cellular proliferation and differentiation", " Many thousands of noncoding RNAs are transcribed and recognized as functional RNAs with diverse sizes, structures, and biological functions. ", "Protection against infection and maintenance of homeostasis are the hallmarks of the innate immune system. The complex signaling cascades that occur following microbial infection have been studied intensely for a number of years and long noncoding RNA (lncRNA) represent novel regulatory components of these pathways.", "Over the last decade, long noncoding RNAs (lncRNAs) have emerged as a fundamental molecular class whose members play pivotal roles in the regulation of the genome.", "Through their numerous functions, lncRNAs play critical roles in the growth, development, senescence, death, and other important physiological and pathological processes.", "lncRNAs usually function through interactions with proteins, which implies the importance of identifying the binding proteins of lncRNAs in understanding the molecular mechanisms underlying the functions of lncRNAs.", "Long non-coding RNAs (LncRNAs) are involved in multiple processes critical to normal cellular function and dysfunction of lncRNA MIAT may contribute to the pathophysiology of schizophrenia.", "lncRNAs function as adaptors that link specific chromatin loci with chromatin-remodeling complexes and transcription factors.", "The results indicate that lncRNA-CIR contributes to ECM degradation and plays a key role in the pathogenesis of OA. We propose that lncRNA-CIR could be used as a potential target in OA therapy.", "Here, we report that lncRNA#32 is associated with type I IFN signaling.", "ur results reveal a role for lncRNA#32 in host antiviral responses.", "Long noncoding RNAs (lncRNAs) have emerged as critical epigenetic regulators of gene expression. ", "RNAs and potent gene regulators, which play an important and varied role in cellular functions. ", "lncRNAs have been reported to participate in a broad scope of biological processes, and lncRNA dysregulation leads to diverse human diseases, including cancer. ", "however, as the discovery of lncRNA XIST and HOTAIR uncovers the emerging roles of lncRNAs in development and tumorigenesis. In the past decades, accumulating evidence have indicated that lncRNAs involve in a wide range of biological functions, such as X-chromosome inactivation, reprogramming stem cell pluripotency, regulation of the immune response and carcinogenesi" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27582466", "http://www.ncbi.nlm.nih.gov/pubmed/26117798", "http://www.ncbi.nlm.nih.gov/pubmed/24757148", "http://www.ncbi.nlm.nih.gov/pubmed/25994219", "http://www.ncbi.nlm.nih.gov/pubmed/26362525", "http://www.ncbi.nlm.nih.gov/pubmed/25855606", "http://www.ncbi.nlm.nih.gov/pubmed/26004688", "http://www.ncbi.nlm.nih.gov/pubmed/26308238", "http://www.ncbi.nlm.nih.gov/pubmed/24063787", "http://www.ncbi.nlm.nih.gov/pubmed/27802187", "http://www.ncbi.nlm.nih.gov/pubmed/24149621", "http://www.ncbi.nlm.nih.gov/pubmed/26302456", "http://www.ncbi.nlm.nih.gov/pubmed/25588719", "http://www.ncbi.nlm.nih.gov/pubmed/24473392", "http://www.ncbi.nlm.nih.gov/pubmed/24196393", "http://www.ncbi.nlm.nih.gov/pubmed/26297315" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085", "http://amigo.geneontology.org/amigo/term/GO:0065009" ]

[ "Exosomes are 40-100-nm vesicles released by most cell types after fusion of multivesicular endosomes with the plasma membrane. Exosomes contain proteins and RNA species and can mediate communication and immune responses." ]

[]

[ "Exosomes-secreted microRNAs play an important role in metastatic spread", "Exosome-mediated communication", "Cells are able to produce and release different types of vesicles, such as microvesicles and exosomes, in the extracellular microenvironment. According to the scientific community, both microvesicles and exosomes are able to take on and transfer different macromolecules from and to other cells, and in this way, they can influence the recipient cell function", " Exosomes are 40-100-nm vesicles released by most cell types after fusion of multivesicular endosomes with the plasma membrane. Exosomes, ubiquitary in body fluids including urines, contain proteins and RNA species specific of the tissue of origin.", " Exosomes, small membrane vesicles secreted into the extracellular environment, are emerging as another important intercellular messenger in immune responses. ", "the exosome is a complex of 3' -->5' exoribonucleases that plays a key role in the processing and degradation of a wide variety of RNA substrates", "RNA exosome is responsible for a wide variety of RNA processing and degradation reactions", "ability of exosomes to carry and selectively deliver bioactive molecules (e.g., lipids, proteins, and nucleic acids) confers on them the capacity to modulate the activity of receptor cells, even if these cells are located in distant tissues or organs. ", "Our data show that NKG2D is a likely physiological target for exosome-mediated immune evasion in cancer.", "Exosomes, a key component of cell paracrine secretion, can exert protective effects in various disease models", "Exosome secretion participates in the eradication of obsolete proteins but several findings, essentially in the immune system, indicate that exosomes constitute a potential mode of intercellular communication", "Exosomes, nano-sized extracellular vesicles, are believed to play important roles in intercellular communications. This study demonstrates that exosomes released from human macrophages negatively regulate endothelial cell migration through control of integrin trafficking. ", "We found that the majority of extracellular vesicles in the AH were in the exosome size range, suggesting that miRNAs housed within exosomes may function in communication between AH inflow and outflow tissues.", "umor cell-derived exosomes (TEX) suppress functions of immune cells. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27583248", "http://www.ncbi.nlm.nih.gov/pubmed/26794715", "http://www.ncbi.nlm.nih.gov/pubmed/23719940", "http://www.ncbi.nlm.nih.gov/pubmed/16939780", "http://www.ncbi.nlm.nih.gov/pubmed/14727085", "http://www.ncbi.nlm.nih.gov/pubmed/23143101", "http://www.ncbi.nlm.nih.gov/pubmed/21059916", "http://www.ncbi.nlm.nih.gov/pubmed/18490724", "http://www.ncbi.nlm.nih.gov/pubmed/26704468", "http://www.ncbi.nlm.nih.gov/pubmed/27061439", "http://www.ncbi.nlm.nih.gov/pubmed/25619138", "http://www.ncbi.nlm.nih.gov/pubmed/27443883", "http://www.ncbi.nlm.nih.gov/pubmed/25968605", "http://www.ncbi.nlm.nih.gov/pubmed/18423480", "http://www.ncbi.nlm.nih.gov/pubmed/26814471", "http://www.ncbi.nlm.nih.gov/pubmed/16877764", "http://www.ncbi.nlm.nih.gov/pubmed/26850698", "http://www.ncbi.nlm.nih.gov/pubmed/24338844", "http://www.ncbi.nlm.nih.gov/pubmed/27693459" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:0070062", "http://amigo.geneontology.org/amigo/term/GO:0000178", "http://amigo.geneontology.org/amigo/term/GO:0071971", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063326", "http://amigo.geneontology.org/amigo/term/GO:1990563" ]