Datasets:

HiTZ

/

Multilingual-BioASQ-6B

like 2

[ "Yes, proton beam therapy is used for treatment of medulloblastoma." ]

[ "yes" ]

[ "All papers directly compared outcomes from protons with photons, five papers included medulloblastoma, four papers each included craniopharyngioma and low grade gliomas and three papers included ependymoma.", "There are many indications of protontherapy for paediatric brain tumours in curative intent, either for localized treatment of ependymomas, germ-cell tumours, craniopharyngiomas, low-grade gliomas; or panventricular irradiation of pure non-secreting germinoma; or craniospinal irradiation of medulloblastomas and metastatic pure germinomas.", "Cost-effectiveness analysis of cochlear dose reduction by proton beam therapy for medulloblastoma in childhood.", "BACKGROUND: The aim of this study is to evaluate the cost-effectiveness of proton beam therapy with cochlear dose reduction compared with conventional X-ray radiotherapy for medulloblastoma in childhood.METHODS: We developed a Markov model to describe health states of 6-year-old children with medulloblastoma after treatment with proton or X-ray radiotherapy.", "Evaluation of permanent alopecia in pediatric medulloblastoma patients treated with proton radiation.", "BACKGROUND: To precisely calculate skin dose and thus to evaluate the relationship between the skin dose and permanent alopecia for pediatric medulloblastoma patients treated with proton beams.", "CONCLUSIONS: Our results based on 12 patients provide a relationship between the skin dose and permanent alopecia for pediatric medulloblastoma patients treated with protons. ", "Proton beam craniospinal irradiation reduces acute toxicity for adults with medulloblastoma.", "PURPOSE: Efficacy and acute toxicity of proton craniospinal irradiation (p-CSI) were compared with conventional photon CSI (x-CSI) for adults with medulloblastoma.", "CONCLUSIONS: This report is the first analysis of clinical outcomes for adult medulloblastoma patients treated with p-CSI. ", "Dilemmas concerning dose distribution and the influence of relative biological effect in proton beam therapy of medulloblastoma.", "OBJECTIVE: To improve medulloblastoma proton therapy.", "The aim of this study is to evaluate the cost-effectiveness of proton beam therapy with cochlear dose reduction compared with conventional X-ray radiotherapy for medulloblastoma in childhood.", "The aim of this study is to evaluate the cost-effectiveness of proton beam therapy with cochlear dose reduction compared with conventional X-ray radiotherapy for medulloblastoma in childhood.We developed a Markov model to describe health states of 6-year-old children with medulloblastoma after treatment with proton or X-ray radiotherapy", "All patients completed therapy without interruption.Our proton-beam technique for craniospinal irradiation of pediatric medulloblastoma has successfully reduced normal-tissue doses and acute treatment-related sequelae", "Potential role of proton therapy in the treatment of pediatric medulloblastoma/primitive neuro-ectodermal tumors: spinal theca irradiation", "For 6 MV x-rays > 60% of the dose prescribed to the target was delivered to 44% of the heart volume, while the proton beam was able to completely avoid the heart, the liver, and in all likelihood the thyroid and gonads as well.The present study demonstrates a potential role of proton therapy in decreasing the dose (and toxicity) to the critical structures in the irradiation of the spinal neuraxis in medulloblastoma/PNET", "Potential role of proton therapy in the treatment of pediatric medulloblastoma/primitive neuroectodermal tumors: reduction of the supratentorial target volume", "This review describes the role of radiation in general and proton therapy in particular for the treatment of medulloblastoma, central nervous system primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and the recently described embryonal tumor with multilayered rosettes", "Reducing toxicity from craniospinal irradiation: using proton beams to treat medulloblastoma in young children.", "Intensity-modulated radiotherapy did show more bladder dose reduction than the other techniques in pelvic sarcoma irradiation.CONCLUSIONS: In the diseases studied, using various techniques of 3D-CRT, electrons, IMRT, and protons, protons are most optimal in treating retinoblastomas, medulloblastomas (posterior fossa and craniospinal), and pelvic sarcomas.", "For 6 MV x-rays>60% of the dose prescribed to the target was delivered to 44% of the heart volume, while the proton beam was able to completely avoid the heart, the liver, and in all likelihood the thyroid and gonads as well.CONCLUSION: The present study demonstrates a potential role of proton therapy in decreasing the dose (and toxicity) to the critical structures in the irradiation of the spinal neuraxis in medulloblastoma/PNET.", "In medulloblastoma, three posterior fossa irradiation techniques were analyzed: 3D-CRT, IMRT, and protons.", "Potential role of proton therapy in the treatment of pediatric medulloblastoma/primitive neuro-ectodermal tumors: spinal theca irradiation.", "Potential role of proton therapy in the treatment of pediatric medulloblastoma/primitive neuroectodermal tumors: reduction of the supratentorial target volume.", "The present study demonstrates a potential role of proton therapy in decreasing the dose (and toxicity) to the critical structures in the irradiation of the spinal neuraxis in medulloblastoma/PNET.", "Cost-effectiveness analysis of cochlear dose reduction by proton beam therapy for medulloblastoma in childhood.", "Dilemmas concerning dose distribution and the influence of relative biological effect in proton beam therapy of medulloblastoma.", "To improve medulloblastoma proton therapy.", "Our proton-beam technique for craniospinal irradiation of pediatric medulloblastoma has successfully reduced normal-tissue doses and acute treatment-related sequelae.", "Treatment planning with protons for pediatric retinoblastoma, medulloblastoma, and pelvic sarcoma: how do protons compare with other conformal techniques?" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16165914", "http://www.ncbi.nlm.nih.gov/pubmed/9231669", "http://www.ncbi.nlm.nih.gov/pubmed/25415685", "http://www.ncbi.nlm.nih.gov/pubmed/24105630", "http://www.ncbi.nlm.nih.gov/pubmed/16332594", "http://www.ncbi.nlm.nih.gov/pubmed/15637691", "http://www.ncbi.nlm.nih.gov/pubmed/26548600", "http://www.ncbi.nlm.nih.gov/pubmed/25927402", "http://www.ncbi.nlm.nih.gov/pubmed/9240650", "http://www.ncbi.nlm.nih.gov/pubmed/9112448", "http://www.ncbi.nlm.nih.gov/pubmed/12377335", "http://www.ncbi.nlm.nih.gov/pubmed/23322160", "http://www.ncbi.nlm.nih.gov/pubmed/22553304", "http://www.ncbi.nlm.nih.gov/pubmed/1310964", "http://www.ncbi.nlm.nih.gov/pubmed/16168831", "http://www.ncbi.nlm.nih.gov/pubmed/24187330", "http://www.ncbi.nlm.nih.gov/pubmed/23433794", "http://www.ncbi.nlm.nih.gov/pubmed/25403752", "http://www.ncbi.nlm.nih.gov/pubmed/15701271" ]

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[ "http://www.biosemantics.org/jochem#4058240", "http://www.disease-ontology.org/api/metadata/DOID:0050902", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061766", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011878", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008527" ]

[ "Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis", "Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis. . . . . ", "Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis.", "Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis, the enzyme catalyzes a key step in lipid biosynthesis.", "diacylglycerol acyltransferase 1 (dgat1) catalyzes the final step in the acyl-coa-dependent triacylglycerol biosynthesis." ]

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[ "Diacylglycerol acyltransferase 1 (DGAT1) catalyzes the final step in the acyl-CoA-dependent triacylglycerol biosynthesis", "This genomic area includes the DGAT1 gene, which encodes acyl-CoA:diacylglycerol acyltransferase 1, the key enzyme of triglyceride biosynthesis.", "Diacylglycerol acyltransferase (DGAT1) is considered the key enzyme in controlling the rate of synthesis of triglycerides.", "Acyl-CoA:diacylglycerol acyltransferase-1 (DGAT1) catalyzes the final step of triglyceride synthesis in mammalian cells.", "Diacylglycerol O-acyltransferase 1 (DGAT1) is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. ", "The enzyme 1,2-acylCoA:diacylglyceroltransferase-1 (DGAT1) esterifies a fatty acyl-CoA on DAG to form TAG.", "DGAT1 is a microsomal enzyme that catalyses the final step in triglycerides synthesis.", "Diacylglycerol-O-acyltransferase (DGAT1) gene encodes the rate-limiting enzyme of triglyceride synthesis.", "Acyl CoA:diacylglycerol acyltransferase (DGAT) is an integral membrane protein of the endoplasmic reticulum that catalyzes the synthesis of triacylglycerols", "The final step of triacylglycerol biosynthesis is catalyzed by acyl CoA:diacylglycerol acyltransferase (DGAT) enzymes.", "Triacylglycerol (TAG) is the major carbon storage reserve in oilseeds such as Arabidopsis. Acyl-CoA:diacylglycerol acyltransferase (DGAT) catalyses the final step of the TAG synthesis pathway", "Acyl-CoA:diacylglycerol acyltransferases (DGATs) catalyze the last step in triglyceride (TG) synthesis", " This study further confirmed the importance of DGAT1 in triglyceride synthesis in bovine mammary tissue.", "Acyl CoA:diacylgycerol acyltransferase (EC; DGAT) catalyzes the final step in the production of triacylglycerol. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17592768", "http://www.ncbi.nlm.nih.gov/pubmed/21264296", "http://www.ncbi.nlm.nih.gov/pubmed/15834126", "http://www.ncbi.nlm.nih.gov/pubmed/15797871", "http://www.ncbi.nlm.nih.gov/pubmed/23539897", "http://www.ncbi.nlm.nih.gov/pubmed/25687632", "http://www.ncbi.nlm.nih.gov/pubmed/16534144", "http://www.ncbi.nlm.nih.gov/pubmed/12825687", "http://www.ncbi.nlm.nih.gov/pubmed/12407108", "http://www.ncbi.nlm.nih.gov/pubmed/11481333", "http://www.ncbi.nlm.nih.gov/pubmed/23055800", "http://www.ncbi.nlm.nih.gov/pubmed/16130466", "http://www.ncbi.nlm.nih.gov/pubmed/20876538" ]

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[ "http://www.uniprot.org/uniprot/DGAT1_DICDI", "http://www.uniprot.org/uniprot/DGAT1_ARATH", "http://www.uniprot.org/uniprot/DGAT1_CHLAE", "http://www.uniprot.org/uniprot/DGAT1_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051048", "http://www.uniprot.org/uniprot/DGAT1_MOUSE", "http://www.uniprot.org/uniprot/DGAT1_BOVIN" ]

[ "Pediatric central nervous system tumors are the most common solid tumor of childhood. Over 70% of diffuse intrinsic pediatric gliomas, an aggressive brainstem tumor, harbor heterozygous mutations that create a K27M amino acid substitution (methionine replaces lysine 27) in the tail of histone H3.3.", "Over 70% of diffuse intrinsic pediatric gliomas, an aggressive brainstem tumor, harbor heterozygous mutations that create a K27M amino acid substitution (methionine replaces lysine 27) in the tail of histone H3.3. Genome-wide analyses indicate a resetting of the transformed precursors to a developmentally more primitive stem cell state, with evidence of major modifications of histone marks at several master regulator genes.", "some of these molecular changes with clinicopathological utility have been used for the first time in the most recent edition of the world health organization (who) classification of cns tumours to define entities like ependymoma, rela fusion-positive or diffuse midline glioma, h3 k27m-mutant.", "Over 70% of diffuse intrinsic pediatric gliomas, an aggressive brainstem tumor, harbor heterozygous mutations that create a K27M amino acid substitution (methionine replaces lysine 27) in the tail of histone H3.3" ]

[ "K27M in H3.3" ]

[ "Over 70% of diffuse intrinsic pediatric gliomas, an aggressive brainstem tumor, harbor heterozygous mutations that create a K27M amino acid substitution (methionine replaces lysine 27) in the tail of histone H3.3", "We show that H3.3K27M expression synergizes with p53 loss and PDGFRA activation in neural progenitor cells derived from human embryonic stem cells, resulting in neoplastic transformation.", "Some of these molecular changes with clinicopathological utility have been used for the first time in the most recent edition of the World Health Organization (WHO) classification of CNS tumours to define entities like ependymoma, RELA fusion-positive or diffuse midline glioma, H3 K27M-mutant.", "The recent discovery of somatic oncogenic mutations affecting chromatin regulation in pediatric high-grade glioma has markedly improved our understanding of disease pathogenesis, and these findings have stimulated the development of novel therapeutic approaches targeting epigenetic regulators for disease treatment.", "Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation.", "In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10.", "Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas.", "Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations.", "Here, we describe a series of 47 diffuse midline gliomas with histone H3-K27M mutation.", "Histone H3 lysine(27)-to-methionine (H3K27M) gain-of-function mutations occur in highly aggressive pediatric gliomas.", "Sequencing of pediatric gliomas has identified missense mutations Lys27Met (K27M) and Gly34Arg/Val (G34R/V) in genes encoding histone H3.3 (H3F3A) and H3.1 (HIST3H1B).", "Pediatric brainstem gliomas often harbor oncogenic K27M mutation of histone H3.3", "We report that human diffuse intrinsic pontine gliomas (DIPGs) containing the K27M mutation display significantly lower overall amounts of H3 with trimethylated lysine 27 (H3K27me3) and that histone H3K27M transgenes are sufficient to reduce the amounts of H3K27me3 in vitro and in vivo", "In particular, histone genes (H3F3A (K27M) , HIST1H3B (K27M) ) mutations are frequent in adult DIBG whereas IDH1 (R132H) mutations are rare.", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.", "The role of the H3.3K27M mutation in tumorigenesis is not fully understood. ", "The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression.", "In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10. <CopyrightInformation>© 2015 International Society of Neuropathology.</C", "We established a Drosophila animal model for the pathogenic histone H3K27M mutation and show that its overexpression resembles polycomb repressive complex 2 (PRC2) loss-of-function phenotypes, causing derepression of PRC2 target genes and developmental perturbations.", "Here, we describe a series of 47 diffuse midline gliomas with histone H3-K27M mutation.", "We report that human diffuse intrinsic pontine gliomas (DIPGs) containing the K27M mutation display significantly lower overall amounts of H3 with trimethylated lysine 27 (H3K27me3) and that histone H3K27M transgenes are sufficient to reduce the amounts of H3K27me3 in vitro and in vivo.", "In contrast, thalamic gliomas with wild-type H3F3A had DNA methylation profiles similar to those of hemispheric glioblastomas.CONCLUSION: We found that high-grade thalamic gliomas from young adults, like those from children and adolescents, frequently had H3F3A K27M.", "Gliomas with H3F3A K27M from pediatric or young adult patients had similar, characteristic DNA methylation profiles.", "Although the K27M mutation was frequently observed in adult brainstem and thalamic gliomas, this mutation tended to be associated with a poorer prognosis in brainstem gliomas but not in thalamic gliomas.", "Diffuse Midline Gliomas with Histone H3-K27M Mutation: A Series of 47 Cases Assessing the Spectrum of Morphologic Variation and Associated Genetic Alterations.", "In this series, histone H3-K27M mutation was mutually exclusive with IDH1 mutation and EGFR amplification, rarely co-occurred with BRAF-V600E mutation, and was commonly associated with p53 overexpression, ATRX loss (except in pontine gliomas), and monosomy 10.", "The H3.3 K27M mutation results in a poorer prognosis in brainstem gliomas than thalamic gliomas in adults.", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.", "Recently, sequencing of tumor cells revealed that histone H3 is frequently mutated in pediatric HGG, with up to 78 % of diffuse intrinsic pontine gliomas (DIPGs) carrying K27M and 36 % of non-brainstem gliomas carrying either K27M or G34R/V mutations.", "Interestingly, the G34 mutations, the K36M mutations, and the majority of K27M mutations occur in genes encoding the replacement histone H3.3." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26957305", "http://www.ncbi.nlm.nih.gov/pubmed/24242757", "http://www.ncbi.nlm.nih.gov/pubmed/27034984", "http://www.ncbi.nlm.nih.gov/pubmed/27701736", "http://www.ncbi.nlm.nih.gov/pubmed/26297251", "http://www.ncbi.nlm.nih.gov/pubmed/27392443", "http://www.ncbi.nlm.nih.gov/pubmed/26517431", "http://www.ncbi.nlm.nih.gov/pubmed/23603901", "http://www.ncbi.nlm.nih.gov/pubmed/22661320", "http://www.ncbi.nlm.nih.gov/pubmed/24285547", "http://www.ncbi.nlm.nih.gov/pubmed/23539183", "http://www.ncbi.nlm.nih.gov/pubmed/25170156", "http://www.ncbi.nlm.nih.gov/pubmed/25773741", "http://www.ncbi.nlm.nih.gov/pubmed/25525250", "http://www.ncbi.nlm.nih.gov/pubmed/25401693" ]

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[ "No. The transcription of genes temporally regulated during fly and worm development occurs in the absence of canonically active histone modifications. Conversely, strong chromatin marking is related to transcriptional and post-transcriptional stability, an association also observed in mammals. Consequently, chromatin marking is associated with the stable production of RNA, whereas unmarked chromatin would permit rapid gene activation and deactivation during development. In the latter case, regulation by transcription factors would have a comparatively more important regulatory role than chromatin marks." ]

[ "no" ]

[ "Absence of canonical marks of active chromatin in developmentally regulated genes.", "The interplay of active and repressive histone modifications is assumed to have a key role in the regulation of gene expression. In contrast to this generally accepted view, we show that the transcription of genes temporally regulated during fly and worm development occurs in the absence of canonically active histone modifications. Conversely, strong chromatin marking is related to transcriptional and post-transcriptional stability, an association that we also observe in mammals. Our results support a model in which chromatin marking is associated with the stable production of RNA, whereas unmarked chromatin would permit rapid gene activation and deactivation during development. In the latter case, regulation by transcription factors would have a comparatively more important regulatory role than chromatin marks.", "Absence of canonical marks of active chromatin in developmentally regulated genes", "Absence of canonical marks of active chromatin in developmentally regulated genes.", "In contrast to this generally accepted view, we show that the transcription of genes temporally regulated during fly and worm development occurs in the absence of canonically active histone modifications." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26280901" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0035327", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018507" ]

[ "HaploReg v4 enables the systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease." ]

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[ "HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease.", "Since first launching the website in 2011, we have greatly expanded HaploReg, increasing the number of chromatin state maps to 127 reference epigenomes from ENCODE 2012 and Roadmap Epigenomics, incorporating regulator binding data, expanding regulatory motif disruption annotations, and integrating expression quantitative trait locus (eQTL) variants and their tissue-specific target genes from GTEx, Geuvadis, and other recent studies. We present these updates as HaploReg v4, and illustrate a use case of HaploReg for attention deficit hyperactivity disorder (ADHD)-associated SNPs with putative brain regulatory mechanisms.", "We present these updates as HaploReg v4, and illustrate a use case of HaploReg for attention deficit hyperactivity disorder (ADHD)-associated SNPs with putative brain regulatory mechanisms.", "We present these updates as HaploReg v4, and illustrate a use case of HaploReg for attention deficit hyperactivity disorder (ADHD)-associated SNPs with putative brain regulatory mechanisms.", "HaploReg V4.1 and Regulome DB were used to understand functional annotation on important SNV.", "HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26657631", "http://www.ncbi.nlm.nih.gov/pubmed/27539526" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056726" ]

[ "The typical symptoms of Ménière's disease are:\n1) sensorineural hearing loss, \n2) vertigo and \n3) tinnitus." ]

[ "sensorineural hearing loss", "hypoacusia", "vertigo", "dizziness", "tinnitus" ]

[ "To evaluate the onset of vertigo, hearing loss and tinnitus in Ménière's disease and the associated endolymphatic hydrops (EH) of the inner ear.", "We suggest that a 3T MRI measurement should be carried out in patients with sensory-neural hearing loss, vertigo and tinnitus, 4 h after the intravenous injection of a gadolinium-contrast agent to verify the inner ear pathology. ", "Eleven of the 17425 veterans appeared to have typical Ménière's Disease. Their symptoms included attacks of vertigo, lasting between half an hour and a few hours and no more than 24 hours; the sensation of aural fullness; and tinnitus accompanied by a fluctuating or permanent low-tone hearing loss. ", "Diagnosis of Menière's Disease is based upon the wellknown labyrinthic syndrome (hypoacusia, tinnitus and dizziness) which manifests with the typical abscessual, recurrent and unforeseeable course. ", "Typical clinical manifestations of Ménière's disease (vertigo, sensorineural hearing loss and tinnitus) were found in 6/11 patients (54.5%) in the Lyme disease group.", "Among 93 patients presenting the typical symptoms of a Ménière's disease associating an unilateral fluctuating hearing loss of sensorineural type, tinnitus and vertiginous attacks lasting minutes to hours, 40 patients (43%) presented in their personal history a particular otologic insult in the ear which later on developed into the full Ménière's symptomatology, or a particular systemic disease with otologic manifestations. ", "Fourteen children (aged 14 years or younger) with typical Ménière's triad with cochlear sensorineural hearing loss, tinnitus, and intermittent vertigo attacks lasting from minutes to hours were investigated in four different neuro-otologic centers. ", "Among 93 patients presenting the typical symptoms of a Ménière's disease associating an unilateral fluctuating hearing loss of sensorineural type, tinnitus and vertiginous attacks lasting minutes to hours, 40 patients (43%) presented in their personal history a particular otologic insult in the ear which later on developed into the full Ménière's symptomatology, or a particular systemic disease with otologic manifestations.", "To evaluate the onset of vertigo, hearing loss and tinnitus in Ménières disease and the associated endolymphatic hydrops (EH) of the inner ear.Multicentre evaluation of three patient groups.Disease-specific symptoms were reviewed among referred patients in a tertiary referral hospital in Finland and in members of a Finnish Ménière Association in Finland", "In monosymptomatic patients with vertigo, tinnitus or hearing loss; EH was demonstrated in 55-90% of the patients either in the cochlea and/or the vestibulum of the symptomatic ear.Ménières disease often shows bilateral EH and comprises a continuum from a monosymptomatic disease to the typical symptom complex of the disease", "Typical clinical manifestations of Ménière's disease (vertigo, sensorineural hearing loss and tinnitus) were found in 6/11 patients (54.5%) in the Lyme disease group. ", "Nine children, labeled as having \"idiopathic Ménière's disease,\" developed the auditory and vestibular symptoms without any detectable causative factor.", "To evaluate the onset of vertigo, hearing loss and tinnitus in Ménière's disease and the associated endolymphatic hydrops (EH) of the inner ear.Multicentre evaluation of three patient groups.Disease-specific symptoms were reviewed among referred patients in a tertiary referral hospital in Finland and in members of a Finnish Ménière Association in Finland.", "In each twin pair, one twin had migraine and Ménière's disease, whereas the other experienced migraine and episodic vertigo without auditory symptoms.The frequent association of episodic vertigo, migraine, and Ménière's disease in closely related individuals, including identical twins supports the heritability of a migraine-Ménière's syndrome, with variable expression of the individual features of hearing loss, episodic vertigo, and migraine headaches.", "There has been literature, beginning with Ménière himself, suggesting a relationship between Ménière's disease and migraine-associated dizziness.", "In the characterizations of the migraine-associated dizziness, the signs and symptoms show overlap with those characterizing Meniere's disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12806289", "http://www.ncbi.nlm.nih.gov/pubmed/3631415", "http://www.ncbi.nlm.nih.gov/pubmed/18046258", "http://www.ncbi.nlm.nih.gov/pubmed/15198043", "http://www.ncbi.nlm.nih.gov/pubmed/22705835", "http://www.ncbi.nlm.nih.gov/pubmed/1896679", "http://www.ncbi.nlm.nih.gov/pubmed/1896669", "http://www.ncbi.nlm.nih.gov/pubmed/16640061", "http://www.ncbi.nlm.nih.gov/pubmed/23418296", "http://www.ncbi.nlm.nih.gov/pubmed/11936909", "http://www.ncbi.nlm.nih.gov/pubmed/18229792", "http://www.ncbi.nlm.nih.gov/pubmed/21851581", "http://www.ncbi.nlm.nih.gov/pubmed/22801040", "http://www.ncbi.nlm.nih.gov/pubmed/3968944", "http://www.ncbi.nlm.nih.gov/pubmed/12160282", "http://www.ncbi.nlm.nih.gov/pubmed/2610793", "http://www.ncbi.nlm.nih.gov/pubmed/11074796", "http://www.ncbi.nlm.nih.gov/pubmed/11583396" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008575", "http://www.disease-ontology.org/api/metadata/DOID:9849" ]

[ "the ehlers-danlos syndromes (eds) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility.", "The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility.", "The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. " ]

[ "connective tissue" ]

[ "The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. ", "Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility.", "Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders characterized by joint hypermobility, widespread musculoskeletal pain and tissue fragility.", "The Ehlers-Danlos syndromes (EDS) comprise a heterogenous group of heritable disorders of connective tissue, characterized by joint hypermobility, skin hyperextensibility and tissue fragility.", "Ehlers-Danlos syndrome denotes a group of inherited connective tissue diseases comprising nine types.", "The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility.", "Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues", "The Ehlers-Danlos Syndrome (EDS) is a rare connective tissue disorder characterised by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs", "The Ehlers-Danlos syndromes (EDS) comprise a heterogenous group of heritable disorders of connective tissue, characterized by joint hypermobility, skin hyperextensibility and tissue fragility", "Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders", "The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized by tissue fragility, hyperelasticity of the skin and joint hypermobility.", "Ehlers-Danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes.", "Ehlers-Danlos syndrome is a heterogeneous group of heritable connective tissue disorders characterized by increased fragility of various non-ossified tissues.", "The Ehlers-Danlos syndrome encompasses a group of hereditary disorders of the connective tissue, characterized by hyperextensible skin, joint hypermobility; and varying degrees of vessel and tissue fragility.", "Ehlers-Danlos syndrome is an inherited connective tissue disorder.", "The Ehlers-Danlos syndrome is a heritable connective-tissue disorder caused by defects in fibrillar-collagen metabolism.", "The Ehlers-Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders.", "Ehlers-Danlos syndrome type 4, the vascular type, is a rare, life-threatening inherited disorder of the connective tissue.", "The Ehlers-Danlos syndrome is characterized by abnormal connective tissue ", "Ehlers-Danlos syndrome is a complex hereditary connective tissue disorder that is characterized by abnormalities of the skin and joints and visceral and neurological manifestation", "The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility.", "The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterised by joint hypermobility, involvement of skin and tissue fragility", "Ehlers-Danlos syndrome (EDS), inherited disorder of connective tissue, frequently leads to impairment of various functional areas,", "classic form of Ehlers-Danlos syndrome (cEDS) is an inherited connective tissue disorder, where mutations in type V collagen-encoding genes result in abnormal collagen fibrils. Thus the cEDS patients have pathological connective tissue morphology and low stiffness, but the rate of connective tissue protein turnover is unknown", "Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy bruising, and generalized joint hypermobility" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26958560", "http://www.ncbi.nlm.nih.gov/pubmed/15589118", "http://www.ncbi.nlm.nih.gov/pubmed/26452443", "http://www.ncbi.nlm.nih.gov/pubmed/22981642", "http://www.ncbi.nlm.nih.gov/pubmed/25103963", "http://www.ncbi.nlm.nih.gov/pubmed/15817074", "http://www.ncbi.nlm.nih.gov/pubmed/8526413", "http://www.ncbi.nlm.nih.gov/pubmed/26433894", "http://www.ncbi.nlm.nih.gov/pubmed/16513057", "http://www.ncbi.nlm.nih.gov/pubmed/27084695", "http://www.ncbi.nlm.nih.gov/pubmed/11642233", "http://www.ncbi.nlm.nih.gov/pubmed/16338669", "http://www.ncbi.nlm.nih.gov/pubmed/9762220", "http://www.ncbi.nlm.nih.gov/pubmed/24278273", "http://www.ncbi.nlm.nih.gov/pubmed/18328988", "http://www.ncbi.nlm.nih.gov/pubmed/27931023", "http://www.ncbi.nlm.nih.gov/pubmed/22871544", "http://www.ncbi.nlm.nih.gov/pubmed/17621503", "http://www.ncbi.nlm.nih.gov/pubmed/20847697", "http://www.ncbi.nlm.nih.gov/pubmed/25518796", "http://www.ncbi.nlm.nih.gov/pubmed/21667916", "http://www.ncbi.nlm.nih.gov/pubmed/23405630", "http://www.ncbi.nlm.nih.gov/pubmed/16638060", "http://www.ncbi.nlm.nih.gov/pubmed/2721265" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004535", "http://www.disease-ontology.org/api/metadata/DOID:13359", "http://www.disease-ontology.org/api/metadata/DOID:14759", "http://www.disease-ontology.org/api/metadata/DOID:14757", "http://www.disease-ontology.org/api/metadata/DOID:14756", "http://www.disease-ontology.org/api/metadata/DOID:14720" ]

[ "Mondor's disease is a rare benign and self-limiting condition characterized by thrombophlebitis of the superficial veins of the anterolateral thoracoabdominal wall and genital area." ]

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[ "INTRODUCTION: Mondor's disease is a rare superficial thrombophlebitis, historically involving the thoracic venous system of women. ", "Mondor's disease is a rare benign and self-limiting condition characterized by thrombophlebitis of the superficial veins of the anterolateral thoracoabdominal wall.", "Mondor's disease is a rare condition characterized by a superficial thrombophlebitis that can occur in the thoracoabdominal and genital areas. ", "CONCLUSION: Penile Mondor disease is a rare complication that can be successfully treated with medical therapy and conservative approach. Our series showed that penile Mondor's disease does not lead to permanent deformation of the penis or erectile dysfunction.", "Thrombophlebitis of the thoracoepigastric system of veins is a benign disease and, despite its localized involvement and presentation, the condition is known as Mondor disease (MD).", "Though penile Mondor's disease involving the dorsal vein of the penis has been reported by many authors, we report a peculiar case of penile Mondor's disease in a 26-year-old sexually active man with thrombophlebitis of the circumflex vein of the penis with sparing of the dorsal vein.", "Mondor's disease of the penis is an uncommon condition, which usually involves the superficial dorsal veins, it was first described by Braun-Falco in 1955.", "Penile Mondor's disease is rare disease that's characterized by thrombosis in the dorsal vein of the penis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/1562972", "http://www.ncbi.nlm.nih.gov/pubmed/21855258", "http://www.ncbi.nlm.nih.gov/pubmed/24989360", "http://www.ncbi.nlm.nih.gov/pubmed/25960806", "http://www.ncbi.nlm.nih.gov/pubmed/22421473", "http://www.ncbi.nlm.nih.gov/pubmed/19608071", "http://www.ncbi.nlm.nih.gov/pubmed/6613471", "http://www.ncbi.nlm.nih.gov/pubmed/18385566", "http://www.ncbi.nlm.nih.gov/pubmed/8885560", "http://www.ncbi.nlm.nih.gov/pubmed/21450061", "http://www.ncbi.nlm.nih.gov/pubmed/26803533", "http://www.ncbi.nlm.nih.gov/pubmed/22377612", "http://www.ncbi.nlm.nih.gov/pubmed/25667776", "http://www.ncbi.nlm.nih.gov/pubmed/25530373", "http://www.ncbi.nlm.nih.gov/pubmed/11771217", "http://www.ncbi.nlm.nih.gov/pubmed/23674771", "http://www.ncbi.nlm.nih.gov/pubmed/26971966", "http://www.ncbi.nlm.nih.gov/pubmed/10630059", "http://www.ncbi.nlm.nih.gov/pubmed/22414457", "http://www.ncbi.nlm.nih.gov/pubmed/20579824", "http://www.ncbi.nlm.nih.gov/pubmed/7243138", "http://www.ncbi.nlm.nih.gov/pubmed/25923155", "http://www.ncbi.nlm.nih.gov/pubmed/19629969", "http://www.ncbi.nlm.nih.gov/pubmed/24867818", "http://www.ncbi.nlm.nih.gov/pubmed/15906794" ]

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[ "Foscarnet\nVT-1129\nVT-1161 \nBB-3497\nhydroxamate molecules\nsiderophores" ]

[ "VT-1129", "VT-1161", "BB-3497", "hydroxamate molecules", "siderophores", "Foscarnet" ]

[ " Clinically approved inhibitors were selected as well as several other reported metalloprotein inhibitors in order to represent a broad range of metal binding groups (MBGs), including hydroxamic acid, carboxylate, hydroxypyridinonate, thiol, and N-hydroxyurea functional groups.", "A total of 21 different raltegravir-chelator derivative (RCD) compounds were prepared that differed only in the nature of the MBG. ", "At least two compounds (RCD-4, RCD-5) containing a hydroxypyrone MBG were found to display superior strand-transfer inhibition when compared to an abbreviated analogue of raltegravir (RCD-1). ", "By screening a library of metalloenzyme inhibitors, the N-formyl-hydroxylamine derivative BB-3497 was identified as a potent inhibitor of Escherichia coli peptide deformylase with antibacterial activity both in vitro and in vivo.", " The 8-hydroxyquinoline represents a promising new chelator scaffold for the development of MMP inhibitors that was discovered by use of a metalloprotein-focused chelator fragment library.", " the metalloenzyme inhibitors VT-1129 and VT-1161 (both Viamet Pharmaceuticals)", "Based on their ability to chelate metals, hydroxamate molecules and siderophores have been successfully used as metalloenzyme inhibitors.", " Using this model, we identified two nitrogen donor compounds--2,2'-dipyridylamine (DPA) and triazacyclononane (TACN)--as the most selective ZBGs for zinc metalloenzyme inhibitor development. ", "Foscarnet (phosphonoformate trisodium salt), an antiviral used for the treatment of HIV and herpes virus infections, also acts as an activator or inhibitor of the metalloenzyme carbonic anhydrase (CA, EC 4.2.1.1)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19949750", "http://www.ncbi.nlm.nih.gov/pubmed/21046516", "http://www.ncbi.nlm.nih.gov/pubmed/21189019", "http://www.ncbi.nlm.nih.gov/pubmed/11551755", "http://www.ncbi.nlm.nih.gov/pubmed/22308350", "http://www.ncbi.nlm.nih.gov/pubmed/17314045", "http://www.ncbi.nlm.nih.gov/pubmed/18666306", "http://www.ncbi.nlm.nih.gov/pubmed/24074025" ]

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[ "this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis. Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation.", "this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis.", "Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation.", "Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis. . . . ", "Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. This class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis.", "Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis." ]

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[ "Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation.", "this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8783263", "http://www.ncbi.nlm.nih.gov/pubmed/11222693", "http://www.ncbi.nlm.nih.gov/pubmed/19581597", "http://www.ncbi.nlm.nih.gov/pubmed/15507712" ]

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[ "Removal of H2A.Z by INO80 promotes homologous recombination Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80.", "Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays. Importantly, we demonstrate that the HR defect in cells depleted of INO80 or ANP32E can be rescued by H2A.Z co-depletion, suggesting that H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.", "Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays.", "we also report that the histone chaperone anp32e, which is implicated in removing h2az from chromatin, similarly promotes hr and appears to work on the same pathway as ino80 in these assays.", "Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombination H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.", "Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombination", "Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination." ]

[ "INO80", "ANP32E" ]

[ "Removal of H2A.Z by INO80 promotes homologous recombination", "Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers.", "Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80.", "We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays.", "H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.", "Instead, the INO80 complex, which removes H2A.Z(Htz1) from nucleosomes, promotes the ectopic deposition of CENP-A(Cse4)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26982580", "http://www.ncbi.nlm.nih.gov/pubmed/26142279" ]

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[ "libFLASM is a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models." ]

[ "libFLASM" ]

[ "libFLASM: a software library for fixed-length approximate string matching.", "We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models. Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction. Specifically, we describe how it can be used to improve the accuracy of multiple circular sequence alignment in terms of the inferred likelihood-based phylogenies; and we also describe how it is used to efficiently find motifs in molecular sequences representing regulatory or functional regions. The comparison of the performance of the library to other algorithms show how it is competitive, especially with increasing distance thresholds.", "Fixed-length approximate string matching is a generalisation of the classic approximate string matching problem. We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching. The extensive experimental results presented here suggest that other applications could benefit from using libFLASM, and thus further maintenance and development of libFLASM is desirable", "libFLASM: a software library for fixed-length approximate string matching.", "We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching.", "We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models.", "Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27832739" ]

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[ "Yes. There are methods for generating highly multiplexed ChIP-seq libraries." ]

[ "yes" ]

[ "A method for generating highly multiplexed ChIP-seq libraries.", "The barcoding of next generation sequencing libraries has become an essential part of the experimental design. Barcoding not only allows the sequencing of more than one sample per lane, but also reduces technical bias. However, current barcoding strategies impose significant limitations and/or technical barriers in their implementation for ChIP-sequencing.FINDINGS: Converting Y-shaped sequencing adapters to double stranded DNA prior to agarose gel size selection reduces adapter dimer contamination and quantitating the number of cycles required for amplification of the library with qPCR prior to library amplification eliminates library over-amplification.CONCLUSIONS: We describe an efficient and cost effective method for making barcoded ChIP-seq libraries for sequencing on the Illumina platform.", "A method for generating highly multiplexed ChIP-seq libraries", "A method for generating highly multiplexed ChIP-seq libraries.", "We describe an efficient and cost effective method for making barcoded ChIP-seq libraries for sequencing on the Illumina platform.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24885602" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015698", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D047369", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056656" ]

[ "Doxorubicin (DOXO) is widely used to treat solid tumors. However, its clinical use is limited by side effects including serious cardiotoxicity due to cardiomyocyte damage", "Doxorubicin (DOXO) is widely used to treat solid tumors. However, its clinical use is limited by side effects including serious cardiotoxicity due to cardiomyocyte damage. " ]

[ "yes" ]

[ "Doxorubicin (DOXO) is widely used to treat solid tumors. However, its clinical use is limited by side effects including serious cardiotoxicity due to cardiomyocyte damage. ", "The results provide direct evidence for the role of catalase in doxorubicin cardiotoxic responses.", "These results do not support the possibility that mitomycin C potentiates the acute cardiotoxic effects produced by doxorubicin.", "The anthracycline chemotherapeutic agent doxorubicin is converted by the enzyme carbonyl reductase 1 (CBR1) into its cardiotoxic metabolite doxorubicinol", "The clinical efficiency of the highly potent antitumor agent doxorubicin is limited by cardiotoxic effects", "Doxorubicin (DOX), a highly active chemotherapeutic drug, faces limitations in clinical application due to severe cardiotoxic effects (mainly through increased oxidative stress)", "Clinical uses of doxorubicin (DOX), a highly active anticancer agent, are limited by its severe cardiotoxic side effects associated with increased oxidative stress and apoptosis", "Doxorubicin (DOX) and trastuzumab (TRZ) are highly effective chemotherapeutic agents in the breast cancer setting, limited by their cardiotoxic side effects", "Twisting and ironing: doxorubicin cardiotoxicity by mitochondrial DNA damage.", "Cardiotoxic effects were reported in 15 (5%) of 291 children receiving treatment including doxorubicin.", "On the other hand, pretreatment of rats with hesperidin protected cardiac tissues against the cardiotoxic effects of doxorubicin as evidenced from amelioration of histopathological changes and normalization of cardiac biochemical parameters.Hesperidin may have a protective effect against DOX-induced cardiotoxicity.", "However, with cumulative doses, doxorubicin also is known to have cardiotoxic effects, including cardiomyopathy and heart failure.", "Methods of reducing or preventing doxorubicin-induced cardiotoxicity have been suggested, including an investigational doxorubicin analog, mitoxantrone ( Novantrone ).", "The most cardiotoxic drug, doxorubicin, is the most potent inducer of superoxide generation, while epirubicin, which is less cardiotoxic, has a relatively limited effect on superoxide production.", "The mechanism of doxorubicin cardiotoxicity is likely multifactorial and most importantly, the genetic factors predisposing to doxorubicin cardiotoxicity are unknown.", "As doxorubicin cardiotoxicity is considered irreversible, early detection of cardiotoxicity and prevention of overt heart failure is essential.", "Although there are monitoring guidelines for cardiotoxicity, optimal timing for early detection of subclinical doxorubicin cardiotoxicity is still obscure.", "Quercetin attenuates doxorubicin cardiotoxicity by modulating Bmi-1 expression.", "However, doxorubicin cardiotoxicity of the heart has largely limited its clinical use.", "Mitochondrial topoisomerase I (top1mt) is a novel limiting factor of doxorubicin cardiotoxicity.", "Doxorubicin-based chemotherapy induces cardiotoxicity, which limits its clinical application.", "he clinical use of doxorubicin (DOX) and other anthracyclines is limited by a dosage-dependent cardiotoxicity, which can lead to cardiomyopathy. ", "Besides its cardiotoxic effect, doxorubicin also elicits inflammatory effects in vivo. 7-Monohydroxyethylrutoside (monoHER) has recently been used as a protector against doxorubicin-induced cardiotoxicity in vivo.", "Doxorubicin is an effective antineoplastic agent, but it frequently causes dose-related cardiotoxic effects. ", "Among these analogs, idarubicin (4-demethoxy-daunorubicin) was shown to be less cardiotoxic than doxorubicin i", "Verapamil has also been suggested to potentiate the cardiotoxicity of doxorubicin. ", "Doxorubicin treatment is associated with both acute and chronic cardiotoxicity. ", "cardiac effects of diclofenac sodium on doxorubicin-induced cardiomyopathy in rats" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24382354", "http://www.ncbi.nlm.nih.gov/pubmed/25885550", "http://www.ncbi.nlm.nih.gov/pubmed/21057569", "http://www.ncbi.nlm.nih.gov/pubmed/19103993", "http://www.ncbi.nlm.nih.gov/pubmed/6734434", "http://www.ncbi.nlm.nih.gov/pubmed/6407163", "http://www.ncbi.nlm.nih.gov/pubmed/9923553", "http://www.ncbi.nlm.nih.gov/pubmed/12679799", "http://www.ncbi.nlm.nih.gov/pubmed/12865930", "http://www.ncbi.nlm.nih.gov/pubmed/23843850", "http://www.ncbi.nlm.nih.gov/pubmed/24714774", "http://www.ncbi.nlm.nih.gov/pubmed/20060872", "http://www.ncbi.nlm.nih.gov/pubmed/19660469", "http://www.ncbi.nlm.nih.gov/pubmed/26507774", "http://www.ncbi.nlm.nih.gov/pubmed/24484915", "http://www.ncbi.nlm.nih.gov/pubmed/17875725", "http://www.ncbi.nlm.nih.gov/pubmed/25660617", "http://www.ncbi.nlm.nih.gov/pubmed/22343424", "http://www.ncbi.nlm.nih.gov/pubmed/24902966", "http://www.ncbi.nlm.nih.gov/pubmed/8647872", "http://www.ncbi.nlm.nih.gov/pubmed/26164096", "http://www.ncbi.nlm.nih.gov/pubmed/24916696", "http://www.ncbi.nlm.nih.gov/pubmed/8402643", "http://www.ncbi.nlm.nih.gov/pubmed/3029137", "http://www.ncbi.nlm.nih.gov/pubmed/15515283", "http://www.ncbi.nlm.nih.gov/pubmed/1531780", "http://www.ncbi.nlm.nih.gov/pubmed/27735842" ]

[]

[ "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4269440", "http://www.biosemantics.org/jochem#4085749", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004317", "http://www.biosemantics.org/jochem#4269440", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D054715", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D066126" ]

[ "Primary intestinal lymphangiectasia (PIL) is associated with:\n1) Waldmann's disease and\n2) Hennekam syndrome (HS)." ]

[ "Waldmann's disease", "Hennekam syndrome", "HS" ]

[ "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is an exudative enteropathy resulting from morphologic abnormalities in the intestinal lymphatics. ", "Secondary hypogammaglobulinemia in Waldmann's disease treated with subcutaneous immunoglobulins.", "Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.", "Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. ", "There are no publications on the treatment of PIL with octreotide in patients with HS. ", "To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.", "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia.", "Primary intestinal lymphangiectasia (Waldmann's disease).", "Limb lymphedema as a first manifestation of primary intestinal lymphangiectasia (Waldmann's disease)", "Primary intestinal lymphangiectasia (Waldmann's disease) is characterized by protein-losing enteropathy occurring more frequently in childhood. ", "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is an exudative enteropathy resulting from morphologic abnormalities in the intestinal lymphatics.", "Primary intestinal lymphangiectasia (PIL), so-called Waldmann's disease, is an uncommon condition, characterized by dilated intestinal submucosal and subserosal lymphatics of the gastrointestinal tract.", "Primary intestinal lymphangiectasia (PIL) or Waldmann's disease is a rare protein-losing gastroenteropathy of unknown etiology.", "Primary intestinal lymphangiectasia (PIL), also known as Waldmanns disease, is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia", "Primary intestinal lymphangiectasia (PIL) or Waldmanns disease is a rare protein-losing gastroenteropathy of unknown etiology", "Primary intestinal lymphangiectasia (PIL), so-called Waldmanns disease, is an uncommon condition, characterized by dilated intestinal submucosal and subserosal lymphatics of the gastrointestinal tract", "Primary intestinal lymphangiectasia (Waldmanns disease) is a rare disease characterized by dilated lymphatics in the small bowel leading to an exudative enteropathy with lymphopenia, hypoalbuminemia and hypogammaglobulinemia.We report the case of a 23 year-old male who presented with chronic anemia and in whom primary intestinal lymphangiectasia was diagnosed", "Primary intestinal lymphangiectasis (PIL), also known as Waldmanns disease, is a rare protein-losing enteropathy characterized by abnormal enlargement of the lymphatic ducts in the bowel wall", "Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. ", "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. ", "Primary intestinal lymphangiectasia (Waldmann's disease) is characterized by protein-losing enteropathy occurring more frequently in childhood.", "Primary intestinal lymphangiectasia (Waldmann's disease).", "Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26934740", "http://www.ncbi.nlm.nih.gov/pubmed/22110841", "http://www.ncbi.nlm.nih.gov/pubmed/23626516", "http://www.ncbi.nlm.nih.gov/pubmed/26405709", "http://www.ncbi.nlm.nih.gov/pubmed/15229406", "http://www.ncbi.nlm.nih.gov/pubmed/16292099", "http://www.ncbi.nlm.nih.gov/pubmed/20812055", "http://www.ncbi.nlm.nih.gov/pubmed/17900962", "http://www.ncbi.nlm.nih.gov/pubmed/18294365", "http://www.ncbi.nlm.nih.gov/pubmed/23180957", "http://www.ncbi.nlm.nih.gov/pubmed/26908672", "http://www.ncbi.nlm.nih.gov/pubmed/26027272" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008201", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008200", "http://www.disease-ontology.org/api/metadata/DOID:2402", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007413", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007410", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194" ]

[ "We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells. We have found that in an in vitro assay, the SRY protein binds to several sites of the Sry gene and especially to a (CA)25 sequence and to a (CAG)30 repeat.", "The presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells.", "We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells Circularization requires the presence of both IR.", "We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells We have found that in an in vitro assay, the SRY protein binds to several sites of the Sry gene and especially to a (CA)25 sequence and to a (CAG)30 repeat", "We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells" ]

[ "no" ]

[ "We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells", "Circularization requires the presence of both IR. As few as 400 complementary nt are necessary for this process", "The presence of the IR does not significantly stimulate intermolecular annealing and trans-splicing in vivo", "We have found that in an in vitro assay, the SRY protein binds to several sites of the Sry gene and especially to a (CA)25 sequence and to a (CAG)30 repeat", "The Q-rich domain of the mouse sex determining gene, Sry, is encoded by an in-frame insertion of a repetitive sequence composed of mostly CAG repeats.", "Inverted repeat structure of the Sry locus in mice.", "We performed separate amplifications of DXZ4 repetitive satellite sequences on the X chromosome, and SRY gene - testis determined factor on the Y chromosome, using nested PCR", "Detailed analysis of the Sry genomic locus reveals a further difference in that the mouse Sry open reading frame lies within 2.8 kilobases of unique sequence at the center of a large inverted repeat. ", "Detailed analysis of the Sry genomic locus reveals a further difference in that the mouse Sry open reading frame lies within 2.8 kilobases of unique sequence at the center of a large inverted repeat.", "The mouse genomic Sry locus is characterized by two arms of a large inverted repeat, flanking a unique region that, between an acceptor and a donor splice site, contains a single exon encoding the Sry protein.", "Recombination involving the repeat region may have led to an 11-kilobase deletion, precisely excising Sry in a line of XY female mice.", "Repetitive element analysis revealed numerous LINE-L1 elements at regions where conservation is lost among the Sry copies.", "Inverted repeat structure of the Sry locus in mice." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/10410901", "http://www.ncbi.nlm.nih.gov/pubmed/20851541", "http://www.ncbi.nlm.nih.gov/pubmed/24228692", "http://www.ncbi.nlm.nih.gov/pubmed/8747544", "http://www.ncbi.nlm.nih.gov/pubmed/1518820", "http://www.ncbi.nlm.nih.gov/pubmed/9369180", "http://www.ncbi.nlm.nih.gov/pubmed/8566785" ]

[]

[]

[ "Yes. Meis1 coordinates a network of genes implicated in eye development and microphthalmia. Haploinsufficiency of Meis1, which encodes a transcription factor with evolutionarily conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment in adult mice." ]

[ "yes" ]

[ "Meis1 coordinates a network of genes implicated in eye development and microphthalmia.", "Here we show that haploinsufficiency of Meis1, which encodes a transcription factor with evolutionarily conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment in adult mice.", "We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations.", "We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations.", "In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway.", "Meis1 coordinates a network of genes implicated in eye development and microphthalmia", "We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations. <CopyrightInformation>© 2015", "In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway", "We propose that Meis1 is at the core of a genetic network implicated in eye patterning/microphthalmia, and represents an additional candidate for syndromic cases of these ocular malformations. <CopyrightInformation>© 2015.", "In the eye primordium, Meis1 coordinates, in a dose-dependent manner, retinal proliferation and differentiation by regulating genes responsible for human microphthalmia and components of the Notch signaling pathway.", "Meis1 coordinates a network of genes implicated in eye development and microphthalmia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26253404" ]

[]

[ "http://www.uniprot.org/uniprot/MEIS1_HUMAN", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008850", "http://www.uniprot.org/uniprot/MITF_MOUSE", "http://www.uniprot.org/uniprot/MITF_RAT", "http://www.disease-ontology.org/api/metadata/DOID:10629", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051739", "http://www.uniprot.org/uniprot/MEIS1_XENLA", "http://www.uniprot.org/uniprot/MEIS1_MOUSE", "http://www.uniprot.org/uniprot/MITF_HUMAN" ]

[ "Yes, Pentraxin 3 s an objective biochemical marker in diagnosis of sepsis; it is helpful in assessment of severity and prognosis of sepsis; it also has a certain clinical value in the assessment of sepsis cardiovascular function damage." ]

[ "yes" ]

[ "As compared with low serum PTX3and sTWEAK cases, cirrhotic patients with high serum PTX3/sTWEAK levels a have higher probability of new severe infections, severe sepsis, septic shock, type 1 hepatorenal syndrome, in-hospital, and 3-month follow-up mortalities. ", "Neonates with high nPTX3 concentrations also have lowered APGAR scores, increased rate of respiratory distress syndrome, clinical sepsis, IVH, necrotizing enterocolitis and prolonged NICU stay.", "In terms of predicting the prognosis of sepsis with heart failure complications, the PTX3 value's area under ROC curve was larger than that of BNP (respectively 0. 844, 0. 472).CONCLUSION: The PTX3 is an objective biochemical marker in diagnosis of sepsis; it is helpful in assessment of severity and prognosis of sepsis; it also has a certain clinical value in the assessment of sepsis cardiovascular function damage.", "Severe Acinetobacter baumannii sepsis is associated with elevation of pentraxin 3.", "Together, these results suggest that elevation of PTX3 is associated with fulminant disease during A. baumannii sepsis.", "Persisting high levels of plasma pentraxin 3 over the first days after severe sepsis and septic shock onset are associated with mortality.", "PTX3, as a mediator of inflammation, may represent an early marker of severity and outcome in sepsis.", "CONCLUSIONS: Persisting high levels of circulating PTX3 over the first days from sepsis onset may be associated with mortality. PTX3 correlates with severity of sepsis and with sepsis-associated coagulation/fibrinolysis dysfunction.", "Pentraxin 3 in patients with severe sepsis or shock: the ALBIOS trial.", "Pentraxin 3: an immune modulator of infection and useful marker for disease severity assessment in sepsis.", "Redox state of pentraxin 3 as a novel biomarker for resolution of inflammation and survival in sepsis.", "The prototypic long pentraxin, pentraxin 3, is an acute phase protein that is structurally related but distinct from C-reactive protein which has proven to correlate with the severity of bacterial infection in critically ill patients.", "Circulating levels of the long pentraxin PTX3 correlate with severity of infection in critically ill patients.", "Pentraxin 3 (PTX3) is associated with severe sepsis and fatal disease in emergency room patients with suspected infection: a prospective cohort study.", "In addition, high levels of PTX3 were associated with unfavorable outcome.CONCLUSIONS: The long pentraxin PTX3 is elevated in critically ill patients and correlates with severity of disease and infection.", "PTX3, as a mediator of inflammation, may represent an early marker of severity and outcome in sepsis.", "Redox state of pentraxin 3 as a novel biomarker for resolution of inflammation and survival in sepsis.", "Persisting high levels of plasma pentraxin 3 over the first days after severe sepsis and septic shock onset are associated with mortality.", "Pentraxin 3 (PTX3) is associated with severe sepsis and fatal disease in emergency room patients with suspected infection: a prospective cohort study.", "The proteomic profile of circulating pentraxin 3 (PTX3) complex in sepsis demonstrates the interaction with azurocidin 1 and other components of neutrophil extracellular traps." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15977234", "http://www.ncbi.nlm.nih.gov/pubmed/25001601", "http://www.ncbi.nlm.nih.gov/pubmed/25227610", "http://www.ncbi.nlm.nih.gov/pubmed/26982005", "http://www.ncbi.nlm.nih.gov/pubmed/27864924", "http://www.ncbi.nlm.nih.gov/pubmed/26872435", "http://www.ncbi.nlm.nih.gov/pubmed/24958171", "http://www.ncbi.nlm.nih.gov/pubmed/23341967", "http://www.ncbi.nlm.nih.gov/pubmed/20119647", "http://www.ncbi.nlm.nih.gov/pubmed/22278372", "http://www.ncbi.nlm.nih.gov/pubmed/26717657", "http://www.ncbi.nlm.nih.gov/pubmed/11445697", "http://www.ncbi.nlm.nih.gov/pubmed/25530683", "http://www.ncbi.nlm.nih.gov/pubmed/25048752", "http://www.ncbi.nlm.nih.gov/pubmed/25591437", "http://www.ncbi.nlm.nih.gov/pubmed/24039869", "http://www.ncbi.nlm.nih.gov/pubmed/21423699" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018805", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000066891", "http://www.biosemantics.org/jochem#4264880" ]

[ "Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II) we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.", "Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. ", "The non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.", " Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II)", "Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.", "Because the transcripts of most miRNA genes are the products of type-II RNA polymerase, pri-miRNA has a poly(A) tail and appears in expressed sequence tags (EST). Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail." ]

[ "RNA polymerase II", "RNAPII" ]

[ "Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. ", "we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.", "In addition, obvious enrichments of three histone modifications (H2BK5me1, H3K36me3 and H4K20me1) as well as RNA Polymerase II (RNAPII) were observed on pre-miRNA genomic sequences corresponding to the active-promoter miRNAs and expressed miRNAs", "Because the transcripts of most miRNA genes are the products of type-II RNA polymerase, pri-miRNA has a poly(A) tail and appears in expressed sequence tags (EST)", "Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II)", "Since Pol II transcripts are capped, we hypothesized that CBP (cap-binding protein) 20 and 80 may bind to capped primary miRNA (pri-miRNA) transcripts and play a role in their processing. Here, we show that cbp20 and cbp80 mutants have reduced miRNA levels and increased pri-miRNA levels.", " Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.", "Plant miRNAs are first transcribed as stem-loop primary miRNAs (pri-miRNAs) by RNA polymerase II,then cleaved in the nucleus into mature miRNAs by Dicer-like 1 (DCL1).", "miRNAs are excised in a stepwise process from double-stranded RNA precursors that are embedded in long RNA polymerase II primary transcripts (pri-miRNA).", "Plant pri-miRNAs are transcribed by DNA-dependent RNA polymerase II (Pol II) and their levels are determined through transcription and degradation, whereas pri-miRNA processing is affected by its structure, splicing, alternative splicing, loading to the processor and the processor activity, which involve in many accessory proteins.", "Specifically, MHV68 miRNAs are transcribed from RNA polymerase III promoters located within adjacent viral tRNA-like sequences.", "Mammalian miRNA biogenesis begins with cotranscriptional cleavage of RNA polymerase II (Pol II) transcripts by the Microprocessor complex.", "miRNAs are excised in a stepwise process from double-stranded RNA precursors that are embedded in long RNA polymerase II primary transcripts (pri-miRNA).", "Canonical primary microRNA (pri-miRNA) precursors are transcribed by RNA polymerase II and then processed by the Drosha endonuclease to generate approximately 60 nt pre-miRNA hairpins.", "Treatment of cells overexpressing NF90 and NF45 with an RNA polymerase II inhibitor, alpha-amanitin, did not reduce the amounts of pri-miRNAs, suggesting that the accumulation of pri-miRNAs is not due to transcriptional activation.", "Plant miRNAs are first transcribed as stem-loop primary miRNAs (pri-miRNAs) by RNA polymerase II,then cleaved in the nucleus into mature miRNAs by Dicer-like 1 (DCL1)", "Plant pri-miRNAs are transcribed by DNA-dependent RNA polymerase II (Pol II) and their levels are determined through transcription and degradation, whereas pri-miRNA processing is affected by its structure, splicing, alternative splicing, loading to the processor and the processor activity, which involve in many accessory proteins", "The majority of human miRNA genes is transcribed by polymerase II and can be classified as class II genes similar to protein-coding genes.", "Plant pri-miRNAs are transcribed by DNA-dependent RNA polymerase II (Pol II) and their levels are determined through transcription and degradation, whereas pri-miRNA processing is affected by its structure, splicing, alternative splicing, loading to the processor and the processor activity, which involve in many accessory proteins.", "In plant, primary transcripts (pri-miRNAs) transcribed from miRNA genes by RNA polymerase II are first processed into stem-loop pre-miRNAs and further chopped into ∼21 nt long miRNAs by RNase III-like enzyme DCL1.", "These small RNAs are first transcribed by RNA polymerase II as a primary miRNA (pri-miRNA) transcript, which is then cleaved into the precursor miRNA (pre-miRNA).", "Here we present the first direct evidence that miRNA genes are transcribed by RNA polymerase II (pol II).", "Plant miRNAs are first transcribed as stem-loop primary miRNAs (pri-miRNAs) by RNA polymerase II,then cleaved in the nucleus into mature miRNAs by Dicer-like 1 (DCL1).", "MicroRNA genes are transcribed by RNA polymerase II.", "Here we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.", "Although it is assumed that miRNA promoters are similar in structure to gene promoters, since both are transcribed by RNA polymerase II (Pol II), computational validations exhibit poor performance of gene promoter prediction methods on miRNAs." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18042145", "http://www.ncbi.nlm.nih.gov/pubmed/26473486", "http://www.ncbi.nlm.nih.gov/pubmed/18829588", "http://www.ncbi.nlm.nih.gov/pubmed/26119101", "http://www.ncbi.nlm.nih.gov/pubmed/20144951", "http://www.ncbi.nlm.nih.gov/pubmed/21702984", "http://www.ncbi.nlm.nih.gov/pubmed/20655920", "http://www.ncbi.nlm.nih.gov/pubmed/26149087", "http://www.ncbi.nlm.nih.gov/pubmed/19398578", "http://www.ncbi.nlm.nih.gov/pubmed/20129062", "http://www.ncbi.nlm.nih.gov/pubmed/15525708", "http://www.ncbi.nlm.nih.gov/pubmed/21178961", "http://www.ncbi.nlm.nih.gov/pubmed/21685453", "http://www.ncbi.nlm.nih.gov/pubmed/25730776", "http://www.ncbi.nlm.nih.gov/pubmed/15589161", "http://www.ncbi.nlm.nih.gov/pubmed/22499686", "http://www.ncbi.nlm.nih.gov/pubmed/15372072" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:1902893", "http://amigo.geneontology.org/amigo/term/GO:1902895", "http://amigo.geneontology.org/amigo/term/GO:1902894", "http://amigo.geneontology.org/amigo/term/GO:0061614", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012319" ]

[ "Mutations in the gene for tyrosinase (TYR), the key enzyme in melanin synthesis, are responsible for oculocutaneous 1 (OCA1)-type albinism." ]

[ "tyrosinase", "TYR" ]

[ "An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals", "To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.", "Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.", "Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified.", "The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1.", "The disruption of tyrosinase trafficking occurs at the level of the endoplasmic reticulum (ER) in OCA1 and OCA3, but at the post-Golgi level in OCA2. ", "Mutations at a single N-glycosylation sequon of tyrosinase have been reported to be responsible for oculocutaneous albinism type IA in humans, characterized by inactive tyrosinase and the total absence of pigmentation. ", "Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). ", "Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is responsible for catalyzing the rate limiting step in melanin biosynthesis, the hydroxylation of tyrosine to dopaquinone. We report 13 new mutations in the tyrosinase gene associated with OCA1A (without pigment) and OCA1B (with pigment) including 9 missense mutations (H19Q, R521, R77C, G97R, C289R, L312V, P313R, F340L and H404P), two nonsense mutations (W80X and R116X) and two frameshift mutations (53delG and 223 delG). ", "Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100).", "Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1).", "Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best understood type of albinism.", "Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).", "Defects in the tyrosinase gene (TYR) cause a common type of OCA, known as oculocutaneous albinism type 1 (OCA1).", "Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.", "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).", "BACKGROUND: Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.", "Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC", "Mutations in the gene for tyrosinase, the key enzyme in melanin synthesis, are responsible for oculocutaneous albinism type 1, and more than 100 mutations of this gene have been identified", "TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family", "Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme", "Disrupting mutations in the tyrosinase (TYR) gene are known to cause recessive albinisms in humans (oculocutaneous albinism Type 1; OCA1) and other species", "To explore the patients genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutaneous albinism type 1 (OCA1).The polymerase chain reaction (PCR) and sequencing techniques were applied to amplify and analyze the regions of exon, exonintron and promoter of TYR gene of 15 OCA1 probands and some of their parents", "Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene", "Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). ", "Mutations of the tyrosinase gene associated with a partial or complete loss of enzymatic activity are responsible for tyrosinase related oculocutaneous albinism (OCA1). ", "Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. ", "Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. ", "OCA1 (MIM 203100) is associated with mutations of the TYR gene encoding tyrosinase (the rate-limiting enzyme in the production of melanin pigment) and accounts for approximately 40% of OCA worldwide. ", "Tyrosinase (EC 1.14.18.1) is a copper-containing enzyme that catalyzes several reactions in the biosynthesis of melanin pigments and is deficient in patients with type I oculocutaneous albinism (OCA1).", "Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme.", "Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100).", "In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye.", "Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disease resulting from mutations of the tyrosinase gene (TYR).", "Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.", "Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).", "Therapeutic research for OCA1 has been hampered, in part, by the absence of purified, active, recombinant wild-type and mutant human enzymes.The intra-melanosomal domain of human tyrosinase (residues 19-469) and two OCA1B related temperature-sensitive mutants, R422Q and R422W were expressed in insect cells and produced in T. ni larvae.", "The tyrosinase gene family of proteins (tyrosinase, TRP1, and TRP2) regulate the type of eumelanin synthesized and mutations affecting them result in OCA1, OCA3, and slaty (in the murine system), respectively.", "Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.", "Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.", "Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).", "Oculocutaneous albinism type 1 (OCA1), resulting from mutations of the tyrosinase gene, is genetically and biochemically the best understood type of albinism.", "Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).", "Oculocutaneous albinism Type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene.", "The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder.", "The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation.", "Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22088535", "http://www.ncbi.nlm.nih.gov/pubmed/21968110", "http://www.ncbi.nlm.nih.gov/pubmed/9170158", "http://www.ncbi.nlm.nih.gov/pubmed/8651291", "http://www.ncbi.nlm.nih.gov/pubmed/12829739", "http://www.ncbi.nlm.nih.gov/pubmed/27775880", "http://www.ncbi.nlm.nih.gov/pubmed/24934919", "http://www.ncbi.nlm.nih.gov/pubmed/23112997", "http://www.ncbi.nlm.nih.gov/pubmed/11574907", "http://www.ncbi.nlm.nih.gov/pubmed/15381243", "http://www.ncbi.nlm.nih.gov/pubmed/16767664", "http://www.ncbi.nlm.nih.gov/pubmed/23242301", "http://www.ncbi.nlm.nih.gov/pubmed/7886000", "http://www.ncbi.nlm.nih.gov/pubmed/10571953", "http://www.ncbi.nlm.nih.gov/pubmed/15760344", "http://www.ncbi.nlm.nih.gov/pubmed/10713140", "http://www.ncbi.nlm.nih.gov/pubmed/25577957", "http://www.ncbi.nlm.nih.gov/pubmed/16907708", "http://www.ncbi.nlm.nih.gov/pubmed/10671067", "http://www.ncbi.nlm.nih.gov/pubmed/1905879", "http://www.ncbi.nlm.nih.gov/pubmed/24721949", "http://www.ncbi.nlm.nih.gov/pubmed/20447099", "http://www.ncbi.nlm.nih.gov/pubmed/9242509", "http://www.ncbi.nlm.nih.gov/pubmed/27829221", "http://www.ncbi.nlm.nih.gov/pubmed/11641241", "http://www.ncbi.nlm.nih.gov/pubmed/25216246", "http://www.ncbi.nlm.nih.gov/pubmed/19208379", "http://www.ncbi.nlm.nih.gov/pubmed/15146472", "http://www.ncbi.nlm.nih.gov/pubmed/22875490", "http://www.ncbi.nlm.nih.gov/pubmed/15937636", "http://www.ncbi.nlm.nih.gov/pubmed/11284711", "http://www.ncbi.nlm.nih.gov/pubmed/17355913", "http://www.ncbi.nlm.nih.gov/pubmed/11041207", "http://www.ncbi.nlm.nih.gov/pubmed/15635296", "http://www.ncbi.nlm.nih.gov/pubmed/26763160", "http://www.ncbi.nlm.nih.gov/pubmed/11153699", "http://www.ncbi.nlm.nih.gov/pubmed/10094567", "http://www.ncbi.nlm.nih.gov/pubmed/22097729", "http://www.ncbi.nlm.nih.gov/pubmed/12753405", "http://www.ncbi.nlm.nih.gov/pubmed/25919014", "http://www.ncbi.nlm.nih.gov/pubmed/25093188", "http://www.ncbi.nlm.nih.gov/pubmed/10671066", "http://www.ncbi.nlm.nih.gov/pubmed/27537549", "http://www.ncbi.nlm.nih.gov/pubmed/24392141" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:0050632", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016115", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004798", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000417" ]

[ "to compare clinical outcomes between conventional en masse repair and separate double-layer double-row repair for the treatment of delaminated rotator cuff tears.", "Surgical repair earlier or later than 3 months after injury may result in similar outcomes and patient satisfaction." ]

[ "early surgery", "later surgery(3 months after injury)", "en masse repair", "double-layer double-row repair", "arthroscopic", "open", "knotless transosseous-equivalent" ]

[ "To compare clinical outcomes between conventional en masse repair and separate double-layer double-row repair for the treatment of delaminated rotator cuff tears", " To systematically review and evaluate the effectiveness of grafts in the augmentation of large-to-massive rotator cuff repairs", "To evaluate the effectiveness of arthroscopic debridement (DB), partial (PR), and complete repair (CR) for massive rotator cuff tears (mRCT) ", "The purpose was to investigate whether surgical repair earlier or later than 3 months after injury may result in similar outcomes and patient satisfaction", "double-row (DR) and knotless transosseous-equivalent (KL-TOE)", " arthroscopic subacromial decompression and rotator-cuff debridement; the other comparable group of 23 patients had open repair and acromioplasty" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26564215", "http://www.ncbi.nlm.nih.gov/pubmed/26912284", "http://www.ncbi.nlm.nih.gov/pubmed/21351612", "http://www.ncbi.nlm.nih.gov/pubmed/20621893", "http://www.ncbi.nlm.nih.gov/pubmed/26847487", "http://www.ncbi.nlm.nih.gov/pubmed/22004636", "http://www.ncbi.nlm.nih.gov/pubmed/8496210", "http://www.ncbi.nlm.nih.gov/pubmed/27157656", "http://www.ncbi.nlm.nih.gov/pubmed/26254089" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:12702", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000070656", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000070636", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017006" ]

[ "Laser Interstitial Thermal Therapy (LITT) is used in treatment of gliomas. LITT can be used effectively for treatment of difficult-to-access high-grade gliomas. More complete coverage of tumor improves progression free survival which can be translated as the extent of resection concept for surgery." ]

[]

[ "OBJECTIVE MR-guided laser-induced thermal therapy (MRgLITT) can be used to treat intracranial tumors, epilepsy, and chronic pain syndromes. ", "Eight patients had glioblastoma multiforme (GBM), 1 had a previously treated GBM with radiation necrosis, and 1 had a melanoma brain metastasis. ", "CONCLUSIONS Laser interstitial thermal therapy followed by minimally invasive transsulcal resection, reported here for the first time, is a novel option for patients with large, DTA, malignant brain neoplasms.", "MRI-guided laser interstitial thermal therapy is currently used as a minimally invasive treatment for brain metastases, radiation necrosis, glioma, and epilepsy. ", "The role of laser interstitial thermal therapy in enhancing progression-free survival of difficult-to-access high-grade gliomas: a multicenter study.", "We report our multicenter results of laser interstitial thermal therapy (LITT) in DTA-HGGs. We retrospectively reviewed 34 consecutive DTA-HGG patients (24 glioblastoma, 10 anaplastic) who underwent LITT at Cleveland Clinic, Washington University, and Wake Forest University (May 2011-December 2012) using the NeuroBlate(®) System. ", "LITT can be used effectively for treatment of DTA-HGGs. More complete coverage of tumor by TDT lines improves PFS which can be translated as the extent of resection concept for surgery.", "Stereotactic laser ablation of high-grade gliomas.", "Recent advances in intraoperative imaging have spurred the use of stereotactic laser ablation (laser interstitial thermal therapy [LITT]) for intracranial lesions. Among other targets, laser ablation has been used in the focal treatment of high-grade gliomas (HGGs). ", "Results of the NeuroBlate System first-in-humans Phase I clinical trial for recurrent glioblastoma: clinical article.", "OBJECT: Laser interstitial thermal therapy has been used as an ablative treatment for glioma; however, its development was limited due to technical issues. ", "CONCLUSIONS: NeuroBlate represents new technology for delivering laser interstitial thermal therapy, allowing controlled thermal ablation of deep hemispheric rGBM. ", "Ongoing researches concern the adjunction of local treatments within the surgical field (photodynamic therapy, chemotherapy, convection immunotherapy...), but also the development of minimal invasive procedures (radiosurgery, high intensity focalized ultrasounds, laser interstitial thermal therapy).", "Current commercially available LITT systems have been used for the treatment of neurosurgical soft-tissue lesions, including difficult to access brain tumors, malignant gliomas, and radiosurgery-resistant metastases, as well as for the ablation of such lesions as epileptogenic foci and radiation necrosis.", " The authors report a Phase I, thermal dose-escalation trial assessing the safety and efficacy of NeuroBlate in recurrent glioblastoma multiforme (rGBM).", "MRI-guided laser interstitial thermal therapy is currently used as a minimally invasive treatment for brain metastases, radiation necrosis, glioma, and epilepsy.", "Laser interstitial thermal therapy has been used as an ablative treatment for glioma; however, its development was limited due to technical issues.", "MRI-guided laser interstitial thermal therapy for the treatment of low-grade gliomas in children: a case-series review, description of the current technologies and perspectives.", "MRI-guided laser interstitial thermal therapy is currently used as a minimally invasive treatment for brain metastases, radiation necrosis, glioma, and epilepsy", "Laser interstitial thermal therapy has been used as an ablative treatment for glioma; however, its development was limited due to technical issues", "Thermal ablation (radiofrequency, microwave, cryosurgery, laser interstitial thermal therapy) is being used more frequently as a local treatment of secondary but also primary cancers and benign lesions", "The role of laser interstitial thermal therapy in enhancing progression-free survival of difficult-to-access high-grade gliomas: a multicenter study", "Current Applications of MRI-Guided Laser Interstitial Thermal Therapy in the Treatment of Brain Neoplasms and Epilepsy: A Radiologic and Neurosurgical Overview", "Magnetic resonance imaging-guided laser interstitial thermal therapy (LITT) is a minimally invasive treatment modality with recent increasing use to ablate brain tumors", "Further study is needed to assess the role of laser-induced thermal therapy for the treatment of intracranial tumors", "OBJECT: Laser interstitial thermal therapy has been used as an ablative treatment for glioma; however, its development was limited due to technical issues.", "Three had Grade 3 adverse events at the highest dose.CONCLUSIONS: NeuroBlate represents new technology for delivering laser interstitial thermal therapy, allowing controlled thermal ablation of deep hemispheric rGBM.", "The role of laser interstitial thermal therapy in enhancing progression-free survival of difficult-to-access high-grade gliomas: a multicenter study.", "Stereotactic Laser Interstitial Thermal Therapy for Recurrent High-Grade Gliomas.", "MRI-guided laser interstitial thermal therapy for the treatment of low-grade gliomas in children: a case-series review, description of the current technologies and perspectives.", "MRI-guided laser interstitial thermal therapy is currently used as a minimally invasive treatment for brain metastases, radiation necrosis, glioma, and epilepsy.", "NeuroBlate represents new technology for delivering laser interstitial thermal therapy, allowing controlled thermal ablation of deep hemispheric rGBM.", "Laser interstitial thermal therapy followed by minimal-access transsulcal resection for the treatment of large and difficult to access brain tumors." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26722845", "http://www.ncbi.nlm.nih.gov/pubmed/26384598", "http://www.ncbi.nlm.nih.gov/pubmed/27861323", "http://www.ncbi.nlm.nih.gov/pubmed/27838155", "http://www.ncbi.nlm.nih.gov/pubmed/23560574", "http://www.ncbi.nlm.nih.gov/pubmed/27690658", "http://www.ncbi.nlm.nih.gov/pubmed/22044371", "http://www.ncbi.nlm.nih.gov/pubmed/25727222", "http://www.ncbi.nlm.nih.gov/pubmed/26113069", "http://www.ncbi.nlm.nih.gov/pubmed/18838327", "http://www.ncbi.nlm.nih.gov/pubmed/25434378", "http://www.ncbi.nlm.nih.gov/pubmed/27861322", "http://www.ncbi.nlm.nih.gov/pubmed/24056317", "http://www.ncbi.nlm.nih.gov/pubmed/24810945", "http://www.ncbi.nlm.nih.gov/pubmed/24994550", "http://www.ncbi.nlm.nih.gov/pubmed/27659837", "http://www.ncbi.nlm.nih.gov/pubmed/27690657" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005910", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053685", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812" ]

[ "Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z. We identified a complex containing 13 different polypeptides associated with a soluble pool of H2A.Z in Saccharomyces cerevisiae.", "The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z. The SWR1 complex replaces the canonical histone H2A with the variant H2A.Z (Htz1 in yeast) at specific chromatin regions.", "The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z.", "The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimer", "The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z. Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z." ]

[ "SWR1" ]

[ "The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimer", "he multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z.", "Our results show that the Swr1-Z domain can deliver the H2A.Z-H2B dimer to the DNA-(H3-H4)2 tetrasome to form the nucleosome by a histone chaperone mechanism.", "H2A.Z is deposited into chromatin by the SWR1 complex and is subject to acetylation of its four N-terminal tail lysine residues by the NuA4 and SAGA histone acetyltransferase complexes.", "H2A.Z deposition is controlled by SWR-C chromatin remodeling enzymes that catalyze the nucleosomal exchange of canonical H2A with H2A.Z. ", "Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z.", "The system demonstrates ATP- and SWR1-complex-dependent replacement of histone H2A for histone H2A.Z on a preassembled nucleosome array. ", "We identified a complex containing 13 different polypeptides associated with a soluble pool of H2A.Z in Saccharomyces cerevisiae. This complex was designated SWR1-Com in reference to the Swr1p subunit, a Swi2/Snf2-paralog.", "The SWR1 complex replaces the canonical histone H2A with the variant H2A.Z (Htz1 in yeast) at specific chromatin regions.", "In Saccharomyces cerevisiae, deposition of histone H2AZ is mediated by the multiprotein SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ.", "In Saccharomyces cerevisiae, chromatin deposition of histone H2AZ is mediated by the fourteen-subunit SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ.", "This incorporation is mediated by the conserved SWR1 complex, which replaces histone H2A in canonical nucleosomes with H2A.Z in an ATP-dependent manner. ", "Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z. ", "In Saccharomyces cerevisiae, chromatin deposition of histone H2AZ is mediated by the fourteen-subunit SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ. ", "In Saccharomyces cerevisiae, deposition of histone H2AZ is mediated by the multiprotein SWR1 complex, which catalyzes ATP-dependent exchange of nucleosomal histone H2A for H2AZ. ", "The Swc4p protein, encoded by an essential gene, is shared by two chromatin-remodeling complexes in Saccharomyces cerevisiae cells: NuA4 (nucleosome acetyltransferase of H4) and SWR1. ", "The Saccharomyces cerevisiae protein Yaf9 is a subunit of both the essential histone acetyltransferase complex NuA4 and the ATP-dependent chromatin remodeling complex SWR1-C, which deposits histone variant H2A.Z into euchromatin.", "Here, we identify and characterize SERRATED LEAVES AND EARLY FLOWERING (SEF), an Arabidopsis (Arabidopsis thaliana) homolog of the yeast SWC6 protein, a conserved subunit of the SWR1/SRCAP complex.", "The SWR1/SRCAP complex is a chromatin-remodeling complex that has been shown to be involved in substitution of histone H2A by the histone variant H2A.Z in yeast (Saccharomyces cerevisiae) and animals.", "The Swc4p protein, encoded by an essential gene, is shared by two chromatin-remodeling complexes in Saccharomyces cerevisiae cells: NuA4 (nucleosome acetyltransferase of H4) and SWR1.", "The SWR1 complex (SWR1C) in yeast catalyzes the replacement of nucleosomal H2A with the H2AZ variant, which ensures full activation of underlying genes.", "In addition, H2AZ, a substrate of SWR1C, interacts with both PIE1 and AtSWC2.", "The incorporation of H2AZ into chromatin is dependent on the SWR1 complex, which catalyses the replacement of conventional histone H2A with H2AZ.", "H2A histone-fold and DNA elements in nucleosome activate SWR1-mediated H2A.Z replacement in budding yeast.", "They report that reversal of H2A.Z replacement is mediated by SWR1 and related INO80 on an H2A.Z nucleosome carrying H3K56Q.", "The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimer.", "This incorporation is mediated by the conserved SWR1 complex, which replaces histone H2A in canonical nucleosomes with H2A.Z in an ATP-dependent manner.", "Here, we show that the JmjC domain protein Msc1 is a novel component of the fission yeast Swr1 complex and is required for Swr1-mediated incorporation of H2A.Z into nucleosomes at gene promoters." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20711347", "http://www.ncbi.nlm.nih.gov/pubmed/15045029", "http://www.ncbi.nlm.nih.gov/pubmed/23816883", "http://www.ncbi.nlm.nih.gov/pubmed/17470967", "http://www.ncbi.nlm.nih.gov/pubmed/21111233", "http://www.ncbi.nlm.nih.gov/pubmed/24507717", "http://www.ncbi.nlm.nih.gov/pubmed/22910211", "http://www.ncbi.nlm.nih.gov/pubmed/19910462", "http://www.ncbi.nlm.nih.gov/pubmed/23580526", "http://www.ncbi.nlm.nih.gov/pubmed/17289584", "http://www.ncbi.nlm.nih.gov/pubmed/26116819", "http://www.ncbi.nlm.nih.gov/pubmed/16299513", "http://www.ncbi.nlm.nih.gov/pubmed/19966225", "http://www.ncbi.nlm.nih.gov/pubmed/27463665", "http://www.ncbi.nlm.nih.gov/pubmed/18726008", "http://www.ncbi.nlm.nih.gov/pubmed/17142478", "http://www.ncbi.nlm.nih.gov/pubmed/19088068" ]

[]

[]

[ "Mcidas and GemC1/Lynkeas specify embryonic radial glial cells. Both proteins were initially described as cell cycle regulators revealing sequence similarity to Geminin. They are expressed in radial glial cells committed to the ependymal cell lineage during embryogenesis, while overexpression and knock down experiments showed that are sufficient and necessary for ependymal cell generation." ]

[ "Mcidas", "GemC1", "Lynkeas" ]

[ "Mcidas and GemC1/Lynkeas specify embryonic radial glial cells.", "Here we discuss recent findings suggesting that 2 novel molecules, Mcidas and GemC1/Lynkeas are key players on radial glial specification to ependymal cells. Both proteins were initially described as cell cycle regulators revealing sequence similarity to Geminin. They are expressed in radial glial cells committed to the ependymal cell lineage during embryogenesis, while overexpression and knock down experiments showed that are sufficient and necessary for ependymal cell generation. We propose that Mcidas and GemC1/Lynkeas are key components of the molecular cascade that promotes radial glial cells fate commitment toward multiciliated ependymal cell lineage operating upstream of c-Myb and FoxJ1.", "Here we discuss recent findings suggesting that 2 novel molecules, Mcidas and GemC1/Lynkeas are key players on radial glial specification to ependymal cells.", "Overexpression and knockdown experiments show that Mcidas and GemC1 are sufficient and necessary for cell fate commitment and differentiation of radial glial cells to multiciliated ependymal cells", "Here we discuss recent findings suggesting that 2 novel molecules, Mcidas and GemC1/Lynkeas are key players on radial glial specification to ependymal cells.", "Our results suggest that Mcidas and GemC1 are key players in the generation of multiciliated ependymal cells of the adult neurogenic niche.", "We propose that Mcidas and GemC1/Lynkeas are key components of the molecular cascade that promotes radial glial cells fate commitment toward multiciliated ependymal cell lineage operating upstream of c-Myb and FoxJ1.", "Mcidas and GemC1 are key regulators for the generation of multiciliated ependymal cells in the adult neurogenic niche." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26395491", "http://www.ncbi.nlm.nih.gov/pubmed/27606337" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063928", "http://amigo.geneontology.org/amigo/term/GO:0090213", "http://amigo.geneontology.org/amigo/term/GO:0009956", "http://amigo.geneontology.org/amigo/term/GO:0021531", "http://amigo.geneontology.org/amigo/term/GO:0021861", "http://amigo.geneontology.org/amigo/term/GO:0021812" ]

[ "Yes, ocular melanosis (melanosis oculi) is a risk factor for uveal melanoma." ]

[ "yes" ]

[ "Ocular/oculodermal (oculo[dermal]) melanocytosis is a congenital periocular pigmentary condition that can lead to the development of uveal melanoma, estimated at 1 in 400 affected patients.", "Melanosis oculi is often underestimated as a risk factor for uveal melanoma and glaucoma. Ophthalmic surveillance, every 6 or 12 months is important, in patients with ocular melanocytosis for early detection of high risk diseases.", " One of about 400 patients with ODM followed for life is estimated to develop uveal melanoma. Excessive melanocytes in the uveal tract in ODM may provide the biologic basis for susceptibility to the development of uveal melanoma. Patients with ODM should be monitored ophthalmoscopically, especially during the susceptible period, for the development of uveal melanoma. The authors suggest that a national registry of ODM patients be created and prospective data collected to better assess the risk of developing uveal melanoma.", "In the white population, an association between oculo(dermal) melanocytosis (ODM) and uveal melanoma is well recognized. ", "Malignant melanomas may arise in the uveal tract, the conjunctiva, the skin of the eyelid, or the orbit. Risk factors so far identified include pre-existing choroidal naevi for uveal melanomas, primary acquired melanosis (PAM) for conjunctival tumours, and ocular and oculodermal melanocytosis for uveal and orbital lesions. ", "Risk factors so far identified include pre-existing choroidal naevi for uveal melanomas, primary acquired melanosis (PAM) for conjunctival tumours, and ocular and oculodermal melanocytosis for uveal and orbital lesions.", "Phacomatosis pigmentovascularis of cesioflammea type in 7 patients: combination of ocular pigmentation (melanocytosis or melanosis) and nevus flammeus with risk for melanoma.", "In the fourth case the melanoma was detected in a routine examination and we were able to apply a preserving treatment with I125 brachytherapy.DISCUSSION: Melanosis oculi is often underestimated as a risk factor for uveal melanoma and glaucoma.", "Association of ocular and oculodermal melanocytosis with the rate of uveal melanoma metastasis: analysis of 7872 consecutive eyes.", "Risk factors so far identified include pre-existing choroidal naevi for uveal melanomas, primary acquired melanosis (PAM) for conjunctival tumours, and ocular and oculodermal melanocytosis for uveal and orbital lesions", "In the fourth case the melanoma was detected in a routine examination and we were able to apply a preserving treatment with I125 brachytherapy.Melanosis oculi is often underestimated as a risk factor for uveal melanoma and glaucoma", "In this study, patients with melanocytosis who developed uveal melanoma were found to have double the risk for metastasis compared with those without melanocytosis.To determine the relationship of oculo(dermal) melanocytosis to the prognosis of patients with uveal melanoma.Retrospective chart review of 7872 patients with uveal melanoma treated at the Ocular Oncology Service, Wills Eye Institute, from August 25, 1970, through August 27, 2008.Enucleation, plaque radiotherapy, local resection, or thermotherapy.Metastasis and death.Of 7872 patients with uveal melanoma, oculo(dermal) melanocytosis was present in 230 (3%)", "By multivariable analysis, the factors predictive of metastasis in patients harboring uveal melanoma associated with oculo(dermal) melanocytosis were increased tumor thickness (P = .001) and the presence of subretinal fluid (P = .05), and the only factor predictive of death was increased tumor thickness (P = .009). ", "In the fourth case the melanoma was detected in a routine examination and we were able to apply a preserving treatment with I125 brachytherapy.Melanosis oculi is often underestimated as a risk factor for uveal melanoma and glaucoma.", "Risk factors so far identified include pre-existing choroidal naevi for uveal melanomas, primary acquired melanosis (PAM) for conjunctival tumours, and ocular and oculodermal melanocytosis for uveal and orbital lesions.", "CONCLUSIONS AND RELEVANCE Patients with uveal melanoma associated with oculo(dermal) melanocytosis have double the risk for metastasis compared with those with no melanocytosis.", "By multivariable analysis, the factors predictive of metastasis in patients harboring uveal melanoma associated with oculo(dermal) melanocytosis were increased tumor thickness (P = .001) and the presence of subretinal fluid (P = .05), and the only factor predictive of death was increased tumor thickness (P = .009).", "CONCLUSIONS AND RELEVANCE Patients with uveal melanoma associated with oculo(dermal) melanocytosis have double the risk for metastasis compared with those with no melanocytosis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21670341", "http://www.ncbi.nlm.nih.gov/pubmed/12647250", "http://www.ncbi.nlm.nih.gov/pubmed/9442799", "http://www.ncbi.nlm.nih.gov/pubmed/8292886", "http://www.ncbi.nlm.nih.gov/pubmed/23681424", "http://www.ncbi.nlm.nih.gov/pubmed/6677847", "http://www.ncbi.nlm.nih.gov/pubmed/1520683" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008545", "http://www.disease-ontology.org/api/metadata/DOID:1909", "http://www.disease-ontology.org/api/metadata/DOID:6566", "http://www.disease-ontology.org/api/metadata/DOID:6039", "http://www.disease-ontology.org/api/metadata/DOID:1752", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012306" ]

[ "A significant relationship between more perceived stress and shorter telomere length is consistent with theoretical frameworks positing that stress induces physiological changes that result in shortened telomeres." ]

[]

[ "A significant relationship between more perceived stress and shorter telomere length is consistent with theoretical frameworks positing that stress induces physiological changes that result in shortened telomeres. ", "Psychological stress contributes to numerous diseases and may do so in part through damage to telomeres, protective non-coding segments on the ends of chromosomes.", "Our results support the hypothesis that depression is associated with accelerated cell aging. Future studies are required to clarify whether the association is mediated through environmental stress, and whether effective treatment can halt cell aging.", "Telomere length, a reliable predictor of disease pathogenesis, can be affected by genetics, chronic stress and health behaviors. Cross-sectionally, highly stressed postmenopausal women have shorter telomeres, but only if they are inactive. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25393133", "http://www.ncbi.nlm.nih.gov/pubmed/26853993", "http://www.ncbi.nlm.nih.gov/pubmed/25070535", "http://www.ncbi.nlm.nih.gov/pubmed/26919486" ]

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[]

[ "Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks." ]

[ "Ackee fruit" ]

[ "The aril of the unripe fruit has high concentrations of HGA, the cause of Jamaican vomiting sickness, which is very often fatal.", "In 1976, over 100 years after Jamaican vomiting sickness (JVS) was first reported, the cause of JVS was linked to the ingestion of the toxin hypoglycin A produced by ackee fruit. ", "Ackee apple fruit is a native fruit to Jamaica and some parts of west Africa. Its toxicity known as \"Jamaican vomiting sickness\" dates back to the nineteenth century.", "Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks.", "An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated.", "Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks.", "The aril of the unripe fruit has high concentrations of HGA, the cause of Jamaican vomiting sickness, which is very often fatal.", "In 1976, over 100 years after Jamaican vomiting sickness (JVS) was first reported, the cause of JVS was linked to the ingestion of the toxin hypoglycin A produced by ackee fruit.", "Hypoglycin A, the toxin found in the ackee fruit, has been reported in the literature as the causative agent in incidences of acute toxicity termed Jamaican vomiting sickness or toxic hypoglycemic syndrome.", "Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks", "An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated", "Hypoglycin A, the toxin found in the ackee fruit, has been reported in the literature as the causative agent in incidences of acute toxicity termed Jamaican vomiting sickness or toxic hypoglycemic syndrome", "Hypoglycin A, the toxin found in the ackee fruit, has been reported in the literature as the causative agent in incidences of acute toxicity termed Jamaican vomiting sickness or toxic hypoglycemic syndrome. ", "An acute illness (Jamaican vomiting sickness) which affected two adults after eating unripe ackee fruit was investigated. ", "In 1976, over 100 years after Jamaican vomiting sickness (JVS) was first reported, the cause of JVS was linked to the ingestion of the toxin hypoglycin A produced by ackee fruit." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/6488562", "http://www.ncbi.nlm.nih.gov/pubmed/8185109", "http://www.ncbi.nlm.nih.gov/pubmed/26324727", "http://www.ncbi.nlm.nih.gov/pubmed/23259140", "http://www.ncbi.nlm.nih.gov/pubmed/16099087", "http://www.ncbi.nlm.nih.gov/pubmed/3548729", "http://www.ncbi.nlm.nih.gov/pubmed/26328472", "http://www.ncbi.nlm.nih.gov/pubmed/25531872" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015984", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005638" ]

[ "PLA2G6 gene is mutated in the Karak syndrome." ]

[ "PLA2G6" ]

[ "Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome", "Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. ", "BACKGROUND: PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome. ", "PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome.", "Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome.", "Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment.", "Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome.", "We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.", "We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. ", "Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome. ", "Recessively inherited mutations of the PLA2G6 gene are causative of infantile neuroaxonal dystrophy and other PLA2G6-associated neurodegeneration, which includes conditions known as atypical neuroaxonal dystrophy, Karak syndrome and early-onset dystonia-parkinsonism with cognitive impairment.", "Mutations in PLA2G6 have been associated with disorders such as infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation type II and Karak syndrome.", "We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16783378", "http://www.ncbi.nlm.nih.gov/pubmed/26001724", "http://www.ncbi.nlm.nih.gov/pubmed/20938027", "http://www.ncbi.nlm.nih.gov/pubmed/27884548", "http://www.ncbi.nlm.nih.gov/pubmed/18443314", "http://www.ncbi.nlm.nih.gov/pubmed/24130795" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "http://www.disease-ontology.org/api/metadata/DOID:225" ]

[ "LedPred is an R/bioconductor package to predict regulatory sequences using support vector machines. LedPred is provided as an R/Bioconductor package connected to an online server to avoid installation of non-R software. Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software." ]

[]

[ "LedPred: an R/bioconductor package to predict regulatory sequences using support vector machines", "Here, we present LedPred, a flexible SVM workflow that predicts new regulatory sequences based on the annotation of known CRMs, which are associated to a large variety of feature types. LedPred is provided as an R/Bioconductor package connected to an online server to avoid installation of non-R software. Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software.", "LedPred: an R/bioconductor package to predict regulatory sequences using support vector machines.", "Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software.", "Here, we present LedPred, a flexible SVM workflow that predicts new regulatory sequences based on the annotation of known CRMs, which are associated to a large variety of feature types.", "Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software.LedPred is available on GitHub: https://github.com/aitgon/LedPred and Bioconductor: http://bioconductor.org/packages/release/bioc/html/LedPred.html under the MIT license.aitor.gonzalez@univ-amu.frSupplementary data are available at Bioinformatics online.<CopyrightInformation>© The Author 2015.", "LedPred: an R/bioconductor package to predict regulatory sequences using support vector machines.", "Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software.", "Here, we present LedPred, a flexible SVM workflow that predicts new regulatory sequences based on the annotation of known CRMs, which are associated to a large variety of feature types." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26628586" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D060388", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012045" ]

[ "Yes, siltuximab , a chimeric human-mouse monoclonal antibody to IL6, is approved for the treatment of patients with multicentric Castleman disease who are human immunodeficiency virus negative and human herpesvirus-8 negative." ]

[ "yes" ]

[ "Siltuximab: a targeted therapy for idiopathic multicentric Castleman disease.", "The recent approvals in North America, Europe and Brazil of siltuximab, a monoclonal antibody against IL-6, for iMCD now provide a safe and effective therapy that targets a key aspect of pathogenesis. In the first ever randomized, placebo-controlled trial in iMCD, siltuximab significantly reduced disease burden and symptoms in a large portion (34%) of patients.", "Despite recent significant advances in our understanding of this disease and the increasing therapeutic experience with rituximab, tocilizumab and siltuximab, there are still difficult questions concerning its aetiology, prognosis and optimal treatment.", "Emerging treatments in Castleman disease - a critical appraisal of siltuximab.", " Siltuximab, a chimeric monoclonal antibody to IL-6, has thus emerged as a promising treatment option in a disease lacking efficacious therapy. Here, we review the findings of recent studies evaluating single-agent siltuximab treatment in CD, including the first-ever randomized clinical trial in this disease. Although much more work is needed to establish a standardized treatment approach, siltuximab appears to be a safe and effective treatment for patients with newly diagnosed and previously treated CD.", "FDA approval: siltuximab for the treatment of patients with multicentric Castleman disease.", "On April 22, 2014, the FDA granted full approval to siltuximab (SYLVANT for injection; Janssen Biotech, Inc.), a chimeric human-mouse monoclonal antibody to IL6, for the treatment of patients with multicentric Castleman disease (MCD) who are human immunodeficiency virus (HIV) negative and human herpesvirus-8 (HHV-8) negative. ", "Currently, there are more effective therapeutic alternatives in multicentric Castleman disease: treatment with monotherapy of rituximab or in combination therapy with immunomodulatory drugs (thalidomide or lenalidomide, treatment with anti-IL-6 (siltuximab) or against its receptor (tocilizumab). ", "Currently, there are more effective therapeutic alternatives in multicentric Castleman disease: treatment with monotherapy of rituximab or in combination therapy with immunomodulatory drugs (thalidomide or lenalidomide, treatment with anti-IL-6 (siltuximab) or against its receptor (tocilizumab).", "Siltuximab for multicentric Castleman disease.", "Siltuximab: A Review in Idiopathic (Human Herpesvirus-8-Negative) Multicentric Castleman Disease.", "Siltuximab (IL6 antibody) is approved for the treatment of multicentric Castleman disease (MCD).", "A phase 2, open-label, multicenter study of the long-term safety of siltuximab (an anti-interleukin-6 monoclonal antibody) in patients with multicentric Castleman disease.", "A phase I, open-label study of siltuximab, an anti-IL-6 monoclonal antibody, in patients with B-cell non-Hodgkin lymphoma, multiple myeloma, or Castleman disease.", "Analysis of Inflammatory and Anemia-Related Biomarkers in a Randomized, Double-Blind, Placebo-Controlled Study of Siltuximab (Anti-IL6 Monoclonal Antibody) in Patients With Multicentric Castleman Disease.", "Siltuximab (Sylvant). Castleman's disease: good symptomatic efficacy in some patients.", "Siltuximab: a new option for the management of Castleman's disease.", "Siltuximab, a novel anti-interleukin-6 monoclonal antibody, for Castleman's disease.", "PURPOSE: To evaluate the safety and pharmacokinetics of siltuximab, an anti-interleukin-6 chimeric monoclonal antibody (mAb) in patients with B-cell non-Hodgkin lymphoma (NHL), multiple myeloma, or Castleman disease.EXPERIMENTAL DESIGN: In an open-label, dose-finding, 7 cohort, phase I study, patients with NHL, multiple myeloma, or symptomatic Castleman disease received siltuximab 3, 6, 9, or 12 mg/kg weekly, every 2 weeks, or every 3 weeks.", "Dose selection of siltuximab for multicentric Castleman's disease.", "Here, modeling and simulation of the pharmacokinetic (PK)/pharmacodynamic (PD) relationship between siltuximab and CRP were used to support dose selection for multicentric Castleman's disease (CD).METHODS: PK/PD modeling was applied to explore the relationship between siltuximab PK and CRP suppression following intravenous siltuximab infusion in 47 patients with B cell non-Hodgkin's lymphoma (n = 17), multiple myeloma (n = 13), or CD (n = 17).", "Currently, there are more effective therapeutic alternatives in multicentric Castleman disease: treatment with monotherapy of rituximab or in combination therapy with immunomodulatory drugs (thalidomide or lenalidomide, treatment with anti-IL-6 (siltuximab) or against its receptor (tocilizumab)", "Three (6%) of 53 patients had serious adverse events judged reasonably related to siltuximab (lower respiratory tract infection, anaphylactic reaction, sepsis).Siltuximab plus best supportive care was superior to best supportive care alone for patients with symptomatic multicentric Castlemans disease and well tolerated with prolonged exposure", "Siltuximab, an anti-IL-6 monoclonal antibody, has demonstrated durable tumor and symptomatic responses in a multinational, randomized, placebo-controlled study of MCD.This preplanned safety analysis was conducted to evaluate the long-term safety of siltuximab treatment among 19 patients with MCD who had stable disease or better and were enrolled in a phase-1 study and subsequent ongoing, open-label, phase-2 extension study", "Analysis of Inflammatory and Anemia-Related Biomarkers in a Randomized, Double-Blind, Placebo-Controlled Study of Siltuximab (Anti-IL6 Monoclonal Antibody) in Patients With Multicentric Castleman Disease", "Siltuximab (IL6 antibody) is approved for the treatment of multicentric Castleman disease (MCD)", "Siltuximab for multicentric Castleman disease", "FDA approval: siltuximab for the treatment of patients with multicentric Castleman disease", "On April 22, 2014, the FDA granted full approval to siltuximab (SYLVANT for injection; Janssen Biotech, Inc.), a chimeric human-mouse monoclonal antibody to IL6, for the treatment of patients with multicentric Castleman disease (MCD) who are human immunodeficiency virus (HIV) negative and human herpesvirus-8 (HHV-8) negative", "Siltuximab for multicentric Castleman's disease: a randomised, double-blind, placebo-controlled trial.", "EXPERIMENTAL DESIGN: In an open-label, dose-finding, 7 cohort, phase I study, patients with NHL, multiple myeloma, or symptomatic Castleman disease received siltuximab 3, 6, 9, or 12 mg/kg weekly, every 2 weeks, or every 3 weeks. ", "Currently, there are more effective therapeutic alternatives in multicentric Castleman disease: treatment with monotherapy of rituximab or in combination therapy with immunomodulatory drugs (thalidomide or lenalidomide, treatment with anti-IL-6 (siltuximab) or against its receptor (tocilizumab).", "To evaluate the safety and pharmacokinetics of siltuximab, an anti-interleukin-6 chimeric monoclonal antibody (mAb) in patients with B-cell non-Hodgkin lymphoma (NHL), multiple myeloma, or Castleman disease.In an open-label, dose-finding, 7 cohort, phase I study, patients with NHL, multiple myeloma, or symptomatic Castleman disease received siltuximab 3, 6, 9, or 12 mg/kg weekly, every 2 weeks, or every 3 weeks.", "On April 22, 2014, the FDA granted full approval to siltuximab (SYLVANT for injection; Janssen Biotech, Inc.), a chimeric human-mouse monoclonal antibody to IL6, for the treatment of patients with multicentric Castleman disease (MCD) who are human immunodeficiency virus (HIV) negative and human herpesvirus-8 (HHV-8) negative.", "Clinical benefit response (CBR; composite of hemoglobin, fatigue, anorexia, fever/night sweats, weight, largest lymph node size) was also evaluated in Castleman disease.Sixty-seven patients received a median of 16 siltuximab doses for a median of 8.5 (maximum 60.5) months; 29 were treated 1 year or longer.", "The recent approvals in North America, Europe and Brazil of siltuximab, a monoclonal antibody against IL-6, for iMCD now provide a safe and effective therapy that targets a key aspect of pathogenesis.", "Although much more work is needed to establish a standardized treatment approach, siltuximab appears to be a safe and effective treatment for patients with newly diagnosed and previously treated CD.", "No dose-limiting toxicity was reported, and only three patients had grade 3 or higher adverse events after a median exposure of 331 days (range, 1 to 1,148 days).These interim results strongly suggest that siltuximab is an effective treatment with favorable safety for the management of CD.", "Siltuximab is a new anti-IL-6, chimeric monoclonal antibody with potential therapeutic benefit in patients with CD.METHODS: We report interim results from an open-label, dose-finding, seven-cohort, phase I study in which patients with symptomatic, multicentric or unresectable, unicentric CD received siltuximab at 1-, 2-, or 3-week intervals.", "Siltuximab for multicentric Castleman disease.", "Siltuximab: a targeted therapy for idiopathic multicentric Castleman disease.", "Emerging treatments in Castleman disease - a critical appraisal of siltuximab.", "Siltuximab (Sylvant). Castleman's disease: good symptomatic efficacy in some patients.", "Siltuximab: a new option for the management of Castleman's disease.", "Siltuximab for multicentric Castleman's disease: a randomised, double-blind, placebo-controlled trial.", "Siltuximab: A Review in Idiopathic (Human Herpesvirus-8-Negative) Multicentric Castleman Disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25310208", "http://www.ncbi.nlm.nih.gov/pubmed/26124203", "http://www.ncbi.nlm.nih.gov/pubmed/26749192", "http://www.ncbi.nlm.nih.gov/pubmed/25601959", "http://www.ncbi.nlm.nih.gov/pubmed/26634298", "http://www.ncbi.nlm.nih.gov/pubmed/25110138", "http://www.ncbi.nlm.nih.gov/pubmed/25042199", "http://www.ncbi.nlm.nih.gov/pubmed/23659971", "http://www.ncbi.nlm.nih.gov/pubmed/26327301", "http://www.ncbi.nlm.nih.gov/pubmed/25784388", "http://www.ncbi.nlm.nih.gov/pubmed/25873122", "http://www.ncbi.nlm.nih.gov/pubmed/20625121", "http://www.ncbi.nlm.nih.gov/pubmed/27152394", "http://www.ncbi.nlm.nih.gov/pubmed/25685858", "http://www.ncbi.nlm.nih.gov/pubmed/26394632", "http://www.ncbi.nlm.nih.gov/pubmed/26869762", "http://www.ncbi.nlm.nih.gov/pubmed/25736164", "http://www.ncbi.nlm.nih.gov/pubmed/25884809" ]

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[ "Specific signals (degrons) regulate protein turnover mediated by the ubiquitin-proteasome system.", "Portable degradation sequences, or degrons, have the ability to bind to E3 ligases and promote substrate ubiquitination when the sequence is presented in isolation or appended to other entities such as fluorescent peptide-based reporters.", "portable degradation sequences, or degrons, have the ability to bind to e3 ligases and promote substrate ubiquitination when the sequence is presented in isolation or appended to other entities such as fluorescent peptide-based reporters." ]

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[ "Specific signals (degrons) regulate protein turnover mediated by the ubiquitin-proteasome system.", "Portable degradation sequences, or degrons, have the ability to bind to E3 ligases and promote substrate ubiquitination when the sequence is presented in isolation or appended to other entities such as fluorescent peptide-based reporters. ", "The N-degrons, a set of degradation signals recognized by the N-end rule pathway, comprise a protein's destabilizing N-terminal residue and an internal lysine residue.", "The ubiquitin-proteasome system degrades an enormous variety of proteins that contain specific degradation signals, or 'degrons'.", "Degron refers to an amino acid sequence that encodes a protein degradation signal, which is oftentimes a poly-ubiquitin chain that can be transferred to other proteins. ", "Degradation signals (degrons) that are targeted by the N-end rule pathway include a set called N-degrons. The main determinant of an N-degron is a destabilizing N-terminal residue of a protein", "The N-end rule pathway is a proteolytic system in which destabilizing N-terminal amino acids of short lived proteins are recognized by recognition components (N-recognins) as an essential element of degrons, called N-degrons", "The N-end rule pathway is a regulated proteolytic system that targets proteins containing destabilizing N-terminal residues (N-degrons) for ubiquitination and proteasomal degradation in eukaryotes", "More than 25 years ago, the first degradation signal was discovered and defined as destabilizing N-terminal amino-acid residue (or N-degron) of protein substrates", "A protein domain called \"degron\", which induces rapid proteolysis by the proteasome, can be used for this purpose. Degron-based technologies for the conditional depletion of POI--degron fusion proteins have been developed by exploiting various pathways leading to proteasomal degradation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7731961", "http://www.ncbi.nlm.nih.gov/pubmed/23960079", "http://www.ncbi.nlm.nih.gov/pubmed/10545113", "http://www.ncbi.nlm.nih.gov/pubmed/20924402", "http://www.ncbi.nlm.nih.gov/pubmed/16606826", "http://www.ncbi.nlm.nih.gov/pubmed/22577142", "http://www.ncbi.nlm.nih.gov/pubmed/21190544", "http://www.ncbi.nlm.nih.gov/pubmed/26732515", "http://www.ncbi.nlm.nih.gov/pubmed/25157437", "http://www.ncbi.nlm.nih.gov/pubmed/23431188", "http://www.ncbi.nlm.nih.gov/pubmed/19878048", "http://www.ncbi.nlm.nih.gov/pubmed/26456660" ]

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[ "SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia." ]

[ "SOX2 anophthalmia syndrome" ]

[ "Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively;", "anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are the most frequent contributors to severe ODA, yet account for a minority of the genetic drivers.", "Three causative SOX2 mutations were found in subjects with syndromic A.", "SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25542770", "http://www.ncbi.nlm.nih.gov/pubmed/26893459", "http://www.ncbi.nlm.nih.gov/pubmed/26250054", "http://www.ncbi.nlm.nih.gov/pubmed/26130484" ]

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[ "Yes, EPRS is dually phosphorylated by cyclin-dependent kinase 5 (Cdk5) at Ser(886) and then by a Cdk5-dependent-AGC kinase at Ser(999)" ]

[ "yes" ]

[ "Phosphorylation of glutamyl-prolyl tRNA synthetase (EPRS) has been investigated extensively in our laboratory for more than a decade, and has served as an archetype for studies of other AARSs.", "EPRS is dually phosphorylated by cyclin-dependent kinase 5 (Cdk5) at Ser(886) and then by a Cdk5-dependent-AGC kinase at Ser(999); ", "Diphosphorylated EPRS is released from its residence in the tRNA multisynthetase complex for immediate binding to NS1-associated protein and subsequent binding to ribosomal protein L13a and GAPDH. ", "Two-site phosphorylation of EPRS coordinates multimodal regulation of noncanonical translational control activity." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27729295", "http://www.ncbi.nlm.nih.gov/pubmed/21220307", "http://www.ncbi.nlm.nih.gov/pubmed/19647514", "http://www.ncbi.nlm.nih.gov/pubmed/23071094" ]

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[ "Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus." ]

[ "Diabetes mellitus" ]

[ "Necrobiosis lipoidica diabeticorum (NLD) is a chronic condition, which is characterized by single or multiple lesions on the legs, and occurs in 0.3% of patients with diabetes.", "Necrobiosis lipoidica (NL) is a rare chronic granulomatous dermatitis that usually appears in the lower extremities. It affects about 0.3-1.2% of diabetic patients, the majority of whom have type 1 diabetes.", "A 32-year-old woman with type 2 diabetes mellitus suffering from morbid obesity with BMI 45,14 kg/m(2) was operated on. Not only the type 2DM but also one of its complication known as necrobiosis lipoidica diabeticorum remitted postoperatively.", "Necrobiosis lipoidica is a granulomatous skin disease of unknown etiology, associated mainly with diabetes mellitus.", "Necrobiosis lipoidica diabeticorum is a rare disease of unclear etiology, that occurs in about 1% of diabetic patients.", "Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus. ", "Necrobiosis lipoidica diabeticorum (NLD) is a rare skin condition associated with diabetes, which characteristically occurs in the pretibial region of the lower limbs (Boulton et al., 1988).", "More than half of the patients with necrobiosis lipoidica diabeticorum have diabetes mellitus, but less than one per cent of diabetes mellitus patients have necrobiosis lipoidica diabeticorum.", "We describe the unusual case of a woman with diabetes and a history of generalized granuloma annulare who noted leg ulcers that clinically represented ulcerated necrobiosis lipoidica diabeticorum and had histologic features of necrobiosis lipoidica diabeticorum and granuloma annulare.", "Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus", "Necrobiosis lipoidica diabeticorum (NLD) is a rare skin condition associated with diabetes, which characteristically occurs in the pretibial region of the lower limbs (Boulton et al., 1988)", "Necrobiosis lipoidica is a rare inflammatory granulomatous skin disease of unknown etiology which is associated with diabetes mellitus in about 60 % of the patients", "Necrobiosis lipoidica is a granulomatous skin disease of unknown etiology, associated mainly with diabetes mellitus", "Necrobiosis lipoidica is an inflammatory granulomatous skin disease of unknown etiology which is associated with diabetes mellitus in about 60% of the patients", "Necrobiosis lipoidica dibeticum (NLD) is a granulomatous skin disease mostly associated with diabetes mellitus", "Necrobiosis lipoidica (NL) is a rare chronic granulomatous disease that has historically been associated with diabetes mellitus", "Necrobiosis lipoidica diabeticorum is an unusual dermatologic condition with a characteristic clinical appearance and a clear association with diabetes mellitus. ", "However, it has not been associated previously with necrobiosis lipoidica diabeticorum (NBL), a rare skin manifestation of diabetes mellitus.", "Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus.", "Necrobiosis lipoidica diabeticorum (NLD) is a rare degenerative connective tissue disorder associated with diabetes mellitus, which usually presents with red papules or plaques with raised edges and occasional ulceration.", "We describe two children with diabetes who both developed granuloma annulare and later, necrobiosis lipoidica diabeticorum.", "Granuloma annulare occurs earlier than necrobiosis lipoidica diabeticorum and the association with diabetes mellitus is much weaker.", "Diabetes mellitus is associated with a range of dermatologic presentations, including granuloma annulare and necrobiosis lipoidica diabeticorum.", "In this report a patient with diabetes mellitus and generalized necrobiosis lipoidica diabeticorum with localization in surgical scars is described.", "Necrobiosis lipoidica is an idiopathic dermatological condition that is strongly associated with diabetes mellitus.", "Necrobiosis lipoidica diabeticorum is an unusual dermatologic condition with a characteristic clinical appearance and a clear association with diabetes mellitus.", "Necrobiosis lipoidica diabeticorum is a rare skin disorder, usually considered a marker for diabetes mellitus.", "Recurrent necrobiosis lipoidica diabeticorum associated with venous insufficiency in an adolescent with poorly controlled type 2 diabetes mellitus." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/11259927", "http://www.ncbi.nlm.nih.gov/pubmed/24575162", "http://www.ncbi.nlm.nih.gov/pubmed/17429587", "http://www.ncbi.nlm.nih.gov/pubmed/730866", "http://www.ncbi.nlm.nih.gov/pubmed/8261754", "http://www.ncbi.nlm.nih.gov/pubmed/16060710", "http://www.ncbi.nlm.nih.gov/pubmed/18357585", "http://www.ncbi.nlm.nih.gov/pubmed/7851128", "http://www.ncbi.nlm.nih.gov/pubmed/12183729", "http://www.ncbi.nlm.nih.gov/pubmed/18377597", "http://www.ncbi.nlm.nih.gov/pubmed/8733162", "http://www.ncbi.nlm.nih.gov/pubmed/20537071", "http://www.ncbi.nlm.nih.gov/pubmed/7501550", "http://www.ncbi.nlm.nih.gov/pubmed/18092383", "http://www.ncbi.nlm.nih.gov/pubmed/23762652", "http://www.ncbi.nlm.nih.gov/pubmed/3351015", "http://www.ncbi.nlm.nih.gov/pubmed/19715570", "http://www.ncbi.nlm.nih.gov/pubmed/24283101", "http://www.ncbi.nlm.nih.gov/pubmed/27016885", "http://www.ncbi.nlm.nih.gov/pubmed/25266162", "http://www.ncbi.nlm.nih.gov/pubmed/23969033", "http://www.ncbi.nlm.nih.gov/pubmed/2102235", "http://www.ncbi.nlm.nih.gov/pubmed/20524475", "http://www.ncbi.nlm.nih.gov/pubmed/19380665", "http://www.ncbi.nlm.nih.gov/pubmed/18718195", "http://www.ncbi.nlm.nih.gov/pubmed/12180894", "http://www.ncbi.nlm.nih.gov/pubmed/23595890", "http://www.ncbi.nlm.nih.gov/pubmed/26975548" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009335", "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "http://www.disease-ontology.org/api/metadata/DOID:3486" ]

[ "Lysine 2-hydroxyisobutyrylation (Khib) is a widely distributed active histone mark. This histone mark was initially identified by MS and then validated by chemical and biochemical methods. Histone Khib shows distinct genomic distributions from histone Kac or histone Kcr during male germ cell differentiation. In male germ cells, H4K8hib is associated with active gene transcription in meiotic and post-meiotic cells. In addition, H4K8ac-associated genes are included in and constitute only a subfraction of H4K8hib-labeled genes. The histone Khib mark is conserved and widely distributed, has high stoichiometry and induces a large structural change." ]

[]

[ "Lysine 2-hydroxyisobutyrylation is a widely distributed active histone mark.", "We report the identification of a new type of histone mark, lysine 2-hydroxyisobutyrylation (Khib), and identify the mark at 63 human and mouse histone Khib sites, including 27 unique lysine sites that are not known to be modified by lysine acetylation (Kac) and lysine crotonylation (Kcr). This histone mark was initially identified by MS and then validated by chemical and biochemical methods. Histone Khib shows distinct genomic distributions from histone Kac or histone Kcr during male germ cell differentiation. Using chromatin immunoprecipitation sequencing, gene expression analysis and immunodetection, we show that in male germ cells, H4K8hib is associated with active gene transcription in meiotic and post-meiotic cells. In addition, H4K8ac-associated genes are included in and constitute only a subfraction of H4K8hib-labeled genes. The histone Khib mark is conserved and widely distributed, has high stoichiometry and induces a large structural change. These findings suggest its critical role on the regulation of chromatin functions.", "We report the identification of a new type of histone mark, lysine 2-hydroxyisobutyrylation (Khib), and identify the mark at 63 human and mouse histone Khib sites, including 27 unique lysine sites that are not known to be modified by lysine acetylation (Kac) and lysine crotonylation (Kcr).", "Lysine 2-hydroxyisobutyrylation is a widely distributed active histone mark", "We report the identification of a new type of histone mark, lysine 2-hydroxyisobutyrylation (Khib), and identify the mark at 63 human and mouse histone Khib sites, including 27 unique lysine sites that are not known to be modified by lysine acetylation (Kac) and lysine crotonylation (Kcr)", "We report the identification of a new type of histone mark, lysine 2-hydroxyisobutyrylation (Khib), and identify the mark at 63 human and mouse histone Khib sites, including 27 unique lysine sites that are not known to be modified by lysine acetylation (Kac) and lysine crotonylation (Kcr). ", "The histone Khib mark is conserved and widely distributed, has high stoichiometry and induces a large structural change.", "Lysine 2-hydroxyisobutyrylation is a widely distributed active histone mark." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24681537" ]

[]

[ "http://www.biosemantics.org/jochem#4005689", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275269", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008239", "http://www.biosemantics.org/jochem#4278518", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4005689", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042421", "http://www.biosemantics.org/jochem#4275268", "http://www.biosemantics.org/jochem#4275269" ]

[ "The 5-repeat allele of a common length polymorphism in the gene that encodes the dopamine D4 receptor (DRD4) is robustly associated with the risk of attention deficit hyperactivity disorder (ADHD)." ]

[ "attention deficit hyperactivity disorder", "ADHD", "susceptibility to neuropsychiatric diseases" ]

[ "The 5-repeat allele of a common length polymorphism in the gene that encodes the dopamine D4 receptor (DRD4) is robustly associated with the risk of attention deficit hyperactivity disorder (ADHD) and substantially exists in Asian populations, which have a lower ADHD prevalence.", "The variable number of tandem repeats (VNTR) of the dopamine receptor D4 (DRD4) gene among humans may elucidate individual differences in susceptibility to neuropsychiatric diseases. Dopamine dysfunction may be involved with Attention Deficit Hyperactivity Disorder (ADHD) symptoms.", "This review summarized the ongoing research of DA receptor genes in ADHD pathogenesis and gathered the past published data with meta-analysis and revealed the high risk of DRD5, DRD2, and DRD4 polymorphisms in ADHD." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22610946", "http://www.ncbi.nlm.nih.gov/pubmed/25659462", "http://www.ncbi.nlm.nih.gov/pubmed/25983551" ]

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[]

[ "Diphtheria is caused by the bacteria:\n1) Corynebacterium ulcerans and \n2) Corynebacterium diphtheriae." ]

[ "Corynebacterium ulcerans", "C. ulcerans", "Corynebacterium diphtheriae", "C. diphtheriae" ]

[ "Corynebacterium ulcerans is a zoonotic pathogen that can produce diphtheria toxin and causes an illness categorized as diphtheria in the European Union because its clinical appearance is similar to that of diphtheria caused by Corynebacterium diphtheriae. ", "The zoonotic bacterium Corynebacterium ulcerans may be pathogenic both in humans and animals: toxigenic strains can cause diphtheria or diphtheria-like disease in humans via diphtheria toxin, while strains producing the dermonecrotic exotoxin phospholipase D may lead to caseous lymphadenitis primarily in wild animals. Diphtheria toxin-positive Corynebacterium ulcerans strains have been isolated mainly from cattle, dogs and cats.", "Corynebacterium diphtheriae, a pathogenic bacterium that causes diphtheria, has been performed. ", "Corynebacterium ulcerans 0102 carries the gene encoding diphtheria toxin on a prophage different from the C. diphtheriae NCTC 13129 prophage.", "Corynebacterium ulcerans can cause a diphtheria-like illness, especially when the bacterium is lysogenized with a tox gene-carrying bacteriophage that produces diphtheria toxin. Acquisition of toxigenicity upon phage lysogenization is a common feature of C. ulcerans and C. diphtheriae. ", "Corynebacterium ulcerans (toxigenic C. ulcerans) produces the diphtheria toxin, which causes pharyngeal and cutaneous diphtheria-like disease in people, and this bacterium is commonly detected in dogs and cats that are reared at home. ", "This case demonstrates that strains of C. ulcerans that produce diphtheria toxin can cause infections of the skin that completely mimic typical cutaneous diphtheria, thereby potentially providing a source of bacteria capable of causing life-threatening diseases in the patient's environment.", "Diphtheria is a serious upper respiratory tract disease caused by the diphtheria toxin (DT) secreted from the bacteria Corynebacterium diphtheriae.", "ulcerans produce diphtheria toxin, which can cause life-threatening cardiopathies and neuropathies in humans.", "A high-density growth approach was utilized to produce mutated diphtheria toxin from two strains of Corynebacterium diphtheria: C7 (beta)(tox-201,tox-9) and C7 (beta)(tox-107).", "For the primary prevention of disease caused by diphtheria toxin-producing corynebacteria, vaccination with diphtheria toxoid is recommended.", "ulcerans that produce diphtheria toxin can cause infections of the skin that completely mimic typical cutaneous diphtheria, thereby potentially providing a source of bacteria capable of causing life-threatening diseases in the patient's environment.", "[A case of diphtheria in the Netherlands due to an infection with Corynebacterium ulcerans].", "Diphtheria is an acute bacterial illness caused by toxigenic strains of Corynebacterium diphtheriae (C. diphtheriae)", "Diphtheria is caused by diphtheria toxin-producing Corynebacterium species", "Diphtheria, an acute infectious condition caused by Corynebacterium diphtheriae, was once a major killer of children", "Diphtheria, caused by toxigenic strains of Corynebacterium diphtheriae, is an ancient disease with high incidence and mortality that has always been characterized by epidemic waves of occurrence", "Infections caused by Corynebacterium diphtheriae frequently induce situations in which very small doses of antigens injected intradermally can cause strong inflammatory reactions", "Corynebacterium diphtheriae is the etiological agent of diphtheria, a potential fatal disease caused by a corynephage toxin", "[Diphtheria in Denmark 1956-1989. Occurrence of Corynebacterium diphtheriae and other diphtheria toxigenic bacteria].", "Matrix-assisted laser desorption/ionisation time-of-flight (MALDI-TOF) mass spectrometry as a tool for rapid diagnosis of potentially toxigenic Corynebacterium species in the laboratory management of diphtheria-associated bacteria.", "This case demonstrates that strains of C. ulcerans that produce diphtheria toxin can cause infections of the skin that completely mimic typical cutaneous diphtheria, thereby potentially providing a source of bacteria capable of causing life-threatening diseases in the patient's environment. ", "Detection of differences in the nucleotide and amino acid sequences of diphtheria toxin from Corynebacterium diphtheriae and Corynebacterium ulcerans causing extrapharyngeal infections.", "Heterogeneity of diphtheria toxin gene, tox, and its regulatory element, dtxR, in Corynebacterium diphtheriae strains causing epidemic diphtheria in Russia and Ukraine.", "Diphtheria is a serious upper respiratory tract disease caused by the diphtheria toxin (DT) secreted from the bacteria Corynebacterium diphtheriae. ", "Laboratory guidelines for the diagnosis of infections caused by Corynebacterium diphtheriae and C. ulcerans. ", "A possible biological mechanism for a diphtheria effect on hearing ability exists: The toxin produced by the Corynebacterium diphtheriae bacteria can cause damage to cranial nerves and therefore may affect the auditory neural pathway. ", "A possible biological mechanism for a diphtheria effect on hearing ability exists: The toxin produced by the Corynebacterium diphtheriae bacteria can cause damage to cranial nerves and therefore may affect the auditory neural pathway.", "In cases of human infection with potentially toxigenic corynebacteria, it is important to determine the species and examine the isolate for diphtheria toxin production.", "AIM: Study of the apoptogenic effect of Corynebacterium diphtheriae toxigenic strains on mice peritoneal macrophages in vitro.MATERIALS AND METHODS: Evaluation ofapoptosis induced by Corynebacterium diphtheriae, Corynebacterium pseudodiphtheriticum, Staphylococcus aureus, Streptococcus pyogenes strains was performed by characteristic morphological changes in macrophages in smears stained by azure eosin by Romanovsky-Giemsa.RESULTS: Apoptogenic activity of diphtheria infectious agent was established to be determined by diphtheria exotoxin at early (after 1 hour) and surface structures and pathogenicity enzymes at later (3 hours) stages of effect.CONCLUSION: The ability of diphtheria infectious agent to cause macrophage apoptosis is one of the mechanisms of realization of its pathogenic properties determined by the effect of diphtheria exotoxin, as well as its surface structures and pathogenicity enzymes.", "Extrapharyngeal infections caused by Corynebacterium ulcerans have rarely been reported previously, and diphtheria toxin production has usually not been addressed.", "Corynebacterium ulcerans may cause diphtheria in humans and caseous lymphadenitis in animals.", "ulcerans for the first time, we show that related sequence types (STs) might be associated with the presence of the diphtheria toxin gene, which encodes diphtheria toxin (DT), the most important diphtheria-causing virulence factor.", "Human-to-human-transmitted Corynebacterium diphtheriae was historically the main pathogen causing diphtheria and has therefore been studied extensively in the past.", "Toxigenic Corynebacterium diphtheriae, the organism causing diphtheria, was thought to have become rare or even have disappeared from previously endemic areas such as South Dakota.", "Infection of the skin caused by Corynebacterium ulcerans and mimicking classical cutaneous diphtheria." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/8784575", "http://www.ncbi.nlm.nih.gov/pubmed/24403054", "http://www.ncbi.nlm.nih.gov/pubmed/7766139", "http://www.ncbi.nlm.nih.gov/pubmed/23981100", "http://www.ncbi.nlm.nih.gov/pubmed/14532240", "http://www.ncbi.nlm.nih.gov/pubmed/23357389", "http://www.ncbi.nlm.nih.gov/pubmed/812306", "http://www.ncbi.nlm.nih.gov/pubmed/22205447", "http://www.ncbi.nlm.nih.gov/pubmed/21087580", "http://www.ncbi.nlm.nih.gov/pubmed/25578079", "http://www.ncbi.nlm.nih.gov/pubmed/21549738", "http://www.ncbi.nlm.nih.gov/pubmed/1901182", "http://www.ncbi.nlm.nih.gov/pubmed/25887321", "http://www.ncbi.nlm.nih.gov/pubmed/23163039", "http://www.ncbi.nlm.nih.gov/pubmed/21742447", "http://www.ncbi.nlm.nih.gov/pubmed/26607400", "http://www.ncbi.nlm.nih.gov/pubmed/24295558", "http://www.ncbi.nlm.nih.gov/pubmed/22583953", "http://www.ncbi.nlm.nih.gov/pubmed/25320226", "http://www.ncbi.nlm.nih.gov/pubmed/16107839", "http://www.ncbi.nlm.nih.gov/pubmed/22403045", "http://www.ncbi.nlm.nih.gov/pubmed/12661461", "http://www.ncbi.nlm.nih.gov/pubmed/10220818", "http://www.ncbi.nlm.nih.gov/pubmed/12037265", "http://www.ncbi.nlm.nih.gov/pubmed/25297035", "http://www.ncbi.nlm.nih.gov/pubmed/22568715", "http://www.ncbi.nlm.nih.gov/pubmed/10598381", "http://www.ncbi.nlm.nih.gov/pubmed/16406634", "http://www.ncbi.nlm.nih.gov/pubmed/24293345", "http://www.ncbi.nlm.nih.gov/pubmed/22628666", "http://www.ncbi.nlm.nih.gov/pubmed/25587356", "http://www.ncbi.nlm.nih.gov/pubmed/18583986", "http://www.ncbi.nlm.nih.gov/pubmed/24106714", "http://www.ncbi.nlm.nih.gov/pubmed/3112181", "http://www.ncbi.nlm.nih.gov/pubmed/10932611", "http://www.ncbi.nlm.nih.gov/pubmed/24572455", "http://www.ncbi.nlm.nih.gov/pubmed/11568853", "http://www.ncbi.nlm.nih.gov/pubmed/22382258" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001419", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003354", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003352", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004167", "http://www.disease-ontology.org/api/metadata/DOID:11405", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004165" ]

[ "The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis.\nThe CaSR is a key regulator for such diverse processes as hormone secretion, gene expression, inflammation, proliferation, differentiation, and apoptosis. Due to this pleiotropy, the CaSR is able to regulate cell fate and is implicated in the development of many types of benign or malignant tumours of the breast, prostate, parathyroid, and colon." ]

[ "The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis." ]

[ "The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. ", "The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The CaSR is ubiquitously expressed, implying a wide range of functions regulated by this receptor.", "The CaSR is a key regulator for such diverse processes as hormone secretion, gene expression, inflammation, proliferation, differentiation, and apoptosis. Due to this pleiotropy, the CaSR is able to regulate cell fate and is implicated in the development of many types of benign or malignant tumours of the breast, prostate, parathyroid, and colon.", "Extracellular calcium-sensing receptor (CaSR) and ovarian cancer gene receptor 1 (OGR1) are two GPCRs that sense extracellular Ca(2+) and H(+), respectively. ", " The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21566074", "http://www.ncbi.nlm.nih.gov/pubmed/26386835", "http://www.ncbi.nlm.nih.gov/pubmed/23856267", "http://www.ncbi.nlm.nih.gov/pubmed/26608608", "http://www.ncbi.nlm.nih.gov/pubmed/26261299" ]

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[ "Childhood and Adolescent Migraine Prevention (CHAMP) trial evaluated effectiveness of amitriptyline and topiramate in the prevention of migraine in children and adolescents." ]

[ "amitriptyline", "topiramate" ]

[ "OBJECTIVE: To describe baseline headache characteristics of children and adolescents participating in a multicenter, randomized, double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo for the prevention of migraine (CHAMP Study).", "Childhood and Adolescent Migraine Prevention (CHAMP) study: a double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo in the prevention of childhood and adolescent migraine.", "METHODS: CHAMP is a double-blinded, placebo-controlled, multicenter, comparative effectiveness study of amitriptyline and topiramate for the prevention of episodic and chronic migraine, designed to mirror real-world practice, sponsored by the US National Institute of Neurological Disorders and Stroke/National Institutes of Health (U01NS076788). ", "The subjects will be randomized in a 2:2:1 (amitriptyline: topiramate: placebo) ratio. Doses are weight based and will be slowly titrated over an 8-week period to a target dose of 1 mg/kg of amitriptyline and 2 mg/kg of topiramate. ", "CONCLUSIONS: The goal of the CHAMP study is to obtain level 1 evidence for the effectiveness of amitriptyline and topiramate in the prevention of migraine in children and adolescents.", "To describe baseline headache characteristics of children and adolescents participating in a multicenter, randomized, double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo for the prevention of migraine (CHAMP Study).", "The aim of the Childhood and Adolescent Migraine Prevention (CHAMP) study is to determine the most effective preventive agent to use in children and adolescents.METHODS: CHAMP is a double-blinded, placebo-controlled, multicenter, comparative effectiveness study of amitriptyline and topiramate for the prevention of episodic and chronic migraine, designed to mirror real-world practice, sponsored by the US National Institute of Neurological Disorders and Stroke/National Institutes of Health (U01NS076788).", "Childhood and Adolescent Migraine Prevention (CHAMP) study: a double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo in the prevention of childhood and adolescent migraine", "The aim of the Childhood and Adolescent Migraine Prevention (CHAMP) study is to determine the most effective preventive agent to use in children and adolescents.CHAMP is a double-blinded, placebo-controlled, multicenter, comparative effectiveness study of amitriptyline and topiramate for the prevention of episodic and chronic migraine, designed to mirror real-world practice, sponsored by the US National Institute of Neurological Disorders and Stroke/National Institutes of Health (U01NS076788)", "CONCLUSIONS: The goal of the CHAMP study is to obtain level 1 evidence for the effectiveness of amitriptyline and topiramate in the prevention of migraine in children and adolescents. ", "Childhood and Adolescent Migraine Prevention (CHAMP) study: a double-blinded, placebo-controlled, comparative effectiveness study of amitriptyline, topiramate, and placebo in the prevention of childhood and adolescent migraine." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23594025", "http://www.ncbi.nlm.nih.gov/pubmed/27039826", "http://www.ncbi.nlm.nih.gov/pubmed/27788026" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:6364", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016430" ]

[ "IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting." ]

[ "IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting." ]

[ "Interleukin 18--binding protein ameliorates liver ischemia--reperfusion injury.", " IL-18BP exhibited anti-inflammatory, antioxidant, and protective effects in I/R-mediated hepatic injury via regulating some liver enzyme activities and cytokine levels. ", "Because of IL-18's potential pro-inflammatory and tissue destructive effects, its biological activities are tightly controlled in the body by its naturally occurring antagonist called IL-18BP. The antagonist is produced in the body both constitutively and in response to an increased production of IL-18 as a negative feedback mechanism. Under physiological conditions, most of IL-18 in the circulation is bound with IL-18BP and is inactive. However, an imbalance in the production of IL-18 and its antagonist (an increase in the production of IL-18 with a decrease, no increase or an insufficient increase in the production of IL-18BP) has been described in many chronic inflammatory diseases in humans.", "L-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. ", "Platelets also contain the IL-18 antagonist, the IL-18-Binding Protein (IL-18BP)", "The natural inhibitor IL-18BP , whose production is enhanced by IFN-γ and IL-27, further regulates IL-18 activity in the extracellular environment. ", "IL-18 binding protein (IL-18BP) is a naturally occurring inhibitor of IL-18. ", "IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26782741", "http://www.ncbi.nlm.nih.gov/pubmed/26898120", "http://www.ncbi.nlm.nih.gov/pubmed/27914933", "http://www.ncbi.nlm.nih.gov/pubmed/25548255", "http://www.ncbi.nlm.nih.gov/pubmed/25807634", "http://www.ncbi.nlm.nih.gov/pubmed/25692120", "http://www.ncbi.nlm.nih.gov/pubmed/25182570", "http://www.ncbi.nlm.nih.gov/pubmed/26850179" ]

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[ "Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 --> lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP.", "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP", "Gene looping, defined as the interaction of the promoter and the terminator regions of a gene during transcription, requires transcription factor IIB (TFIIB).", "A transcription-independent role for TFIIB in gene looping." ]

[ "TFIIB" ]

[ "A transcription-independent role for TFIIB in gene looping.", "Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 -->lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3", "TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP", "We present a high-resolution genome-wide map of TFIIB locations that implicates 3' NFRs in gene looping.", "Instead, activators physically interacted with the general transcription factor TFIIB when the genes were activated and in a looped configuration. TFIIB cross-linked to both the promoter and the terminator regions during the transcriptionally activated state of a gene. ", " We propose that the activators facilitate gene looping through their interaction with TFIIB during transcriptional activation of genes.", "Gene looping, defined as the interaction of the promoter and the terminator regions of a gene during transcription, requires transcription factor IIB (TFIIB).", "We have earlier demonstrated association of TFIIB with the distal ends of a gene in an activator-dependent manner", "Furthermore, TFIIB interaction with the CF1 complex and Pap1 is crucial for gene looping and transcriptional regulation.", "TFIIB also cross-links to terminator regions and is required for gene loops that juxtapose promoter-terminator elements in a transcription-dependent manner.", "These results define a novel, functional interaction between TFIIB and Ssl2 that affects start site selection and gene looping.", "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB.", "Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24124207", "http://www.ncbi.nlm.nih.gov/pubmed/22081613", "http://www.ncbi.nlm.nih.gov/pubmed/17803944", "http://www.ncbi.nlm.nih.gov/pubmed/21835917", "http://www.ncbi.nlm.nih.gov/pubmed/19602510", "http://www.ncbi.nlm.nih.gov/pubmed/18550805" ]

[]

[]

[ "Apixaban for Reduction In Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) trial compared apixaban and warfarin." ]

[ "apixaban", "warfarin" ]

[ "METHODS: We analyzed patients from ARISTOTLE, a randomized trial of 18,201 patients with atrial fibrillation comparing the effects of apixaban versus warfarin on the risk of stroke or systemic embolism. ", " In this study we evaluated the relationship between inflammatory biomarkers at baseline and future risk of cardiovascular events in the Apixaban for Reduction In Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) trial.METHODS: The ARISTOTLE trial randomised 18,201 patients with AF to apixaban or warfarin.", "Moreover, apixaban was associated with decreased all-cause mortality (RR 0.89, 95% CI 0.81 to 0.99) although this finding was driven by the results of the ARISTOTLE trial.", "Compared with warfarin, apixaban (in the ARISTOTLE trial) and edoxaban (in the ENGAGE-AF trial) were shown to be superior or non-inferior, respectively, for reduction in stroke or SE risk in patients with AF. ", "METHODS: A decision-analytic Markov model was constructed to assess the cost-effectiveness of apixaban versus warfarin, based on data from the Apixaban for Reduction in Stroke and Other Thromboembolic Events in AF (ARISTOTLE) trial. ", "The following phase 3 randomized trials with novel oral anticoagulants versus warfarin for stroke prevention in AF have been completed: the Randomized Evaluation of Long-term Anticoagulant therapy (RE-LY) trial with dabigatran, the Rivaroxaban Once daily oral direct Factor Xa inhibition Compared with vitamin K antagonism for prevention of stroke and Embolism Trial in Atrial Fibrillation (ROCKET-AF) trial with rivaroxaban, and the Apixaban for Reduction of Stroke and Other Thromboembolism Events in Atrial Fibrillation (ARISTOTLE) trial with apixaban.", "The following phase 3 randomized trials with novel oral anticoagulants versus warfarin for stroke prevention in AF have been completed: the Randomized Evaluation of Long-term Anticoagulant therapy (RE-LY) trial with dabigatran, the Rivaroxaban Once daily oral direct Factor Xa inhibition Compared with vitamin K antagonism for prevention of stroke and Embolism Trial in Atrial Fibrillation (ROCKET-AF) trial with rivaroxaban, and the Apixaban for Reduction of Stroke and Other Thromboembolism Events in Atrial Fibrillation (ARISTOTLE) trial with apixaban", "We sought to compare the efficacy and safety of the 3 new agents based on data from their published warfarin-controlled randomized trials, using the method of adjusted indirect comparisons.We included findings from 44 535 patients enrolled in 3 trials of the efficacy of dabigatran (Randomized Evaluation of Long-Term Anticoagulation Therapy [RELY]), apixaban (Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation [ARISTOTLE]), and rivaroxaban (Rivaroxaban Once Daily Oral Direct Factor Xa Inhibition Compared With Vitamin K Antagonism for Prevention of Stroke and Embolism Trial in Atrial Fibrillation [ROCKET-AF]), each compared with warfarin.", "A comparative analysis of three major clinical trials with factor Xa inhibitor oral anticoagulant (XOAC) drugs versus warfarin in atrial fibrillation-Rocket-AF (rivaroxaban), Aristotle (apixaban) and Engage AF Timi 48 (edoxaban; two different doses and sets of data)-was carried out.Data were extracted from the original reports (study level) and a meta-analysis was carried out.When compared with warfarin, XOAC therapy was associated with a decrease in haemorrhagic stroke, with a similar pattern for all regimens and meta-analysis showing a risk ratio of 0.488 (95% CI 0.", "Apixaban compared with warfarin in patients with atrial fibrillation and previous stroke or transient ischaemic attack: a subgroup analysis of the ARISTOTLE trial.", "Efficacy and safety of apixaban compared with warfarin for stroke prevention in patients with atrial fibrillation from East Asia: a subanalysis of the Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) Trial.", "Efficacy of apixaban when compared with warfarin in relation to renal function in patients with atrial fibrillation: insights from the ARISTOTLE trial.", "A comparative analysis of three major clinical trials with factor Xa inhibitor oral anticoagulant (XOAC) drugs versus warfarin in atrial fibrillation-Rocket-AF (rivaroxaban), Aristotle (apixaban) and Engage AF Timi 48 (edoxaban; two different doses and sets of data)-was carried out.Data were extracted from the original reports (study level) and a meta-analysis was carried out.When compared with warfarin, XOAC therapy was associated with a decrease in haemorrhagic stroke, with a similar pattern for all regimens and meta-analysis showing a risk ratio of 0.488 (95% C", "This study sought to characterize major bleeding on the basis of the components of the major bleeding definition, to explore major bleeding by location, to define 30-day mortality after a major bleeding event, and to identify factors associated with major bleeding.Apixaban was shown to reduce the risk of major hemorrhage among patients with atrial fibrillation in the ARISTOTLE (Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation) trial.All patients who received at least 1 dose of a study drug were included.", "Little is known about patients with 1 dose-reduction criterion who received the 5 mg twice daily dose of apixaban.To determine the frequency of 1 dose-reduction criterion and whether the effects of the 5 mg twice daily dose of apixaban on stroke or systemic embolism and bleeding varied among patients with 1 or no dose-reduction criteria.Among 18 201 patients in the ARISTOTLE trial, 17 322 were included in this analysis.", "We sought to compare the efficacy and safety of the 3 new agents based on data from their published warfarin-controlled randomized trials, using the method of adjusted indirect comparisons.We included findings from 44 535 patients enrolled in 3 trials of the efficacy of dabigatran (Randomized Evaluation of Long-Term Anticoagulation Therapy [RELY]), apixaban (Apixaban for Reduction in Stroke and Other Thromboembolic Events in Atrial Fibrillation [ARISTOTLE]), and rivaroxaban (Rivaroxaban Once Daily Oral Direct Factor Xa Inhibition Compared With Vitamin K Antagonism for Prevention of Stroke and Embolism Trial i", "This study aimed to evaluate the medical cost reductions associated with the use of individual NOACs instead of warfarin from the US payer perspective.Rates for efficacy and safety clinical events for warfarin were estimated as the weighted averages from the RE-LY, ROCKET-AF and ARISTOTLE trials, and event rates for NOACs were determined by applying trial hazard ratios or relative risk ratios to such weighted averages.", "The ARISTOTLE trial showed apixaban was superior to warfarin for stroke prevention, significantly reduced all major bleeding, and resulted in a significant reduction in all-cause mortality.", "The following phase 3 randomized trials with novel oral anticoagulants versus warfarin for stroke prevention in AF have been completed: the Randomized Evaluation of Long-term Anticoagulant therapy (RE-LY) trial with dabigatran, the Rivaroxaban Once daily oral direct Factor Xa inhibition Compared with vitamin K antagonism for prevention of stroke and Embolism Trial in Atrial Fibrillation (ROCKET-AF) trial with rivaroxaban, and the Apixaban for Reduction of Stroke and Other Thromboembolism Events in Atrial Fibrillation (ARISTOTLE) trial with apixaban.", "In the ARISTOTLE trial, apixaban was superior to warfarin in the reduction of stroke or systemic embolism, major bleeding, intracranial hemorrhage, and all-cause mortality, with a similar reduction in the rate of ischemic stroke and better tolerability.", "The results of the ARISTOTLE trial, which is evaluating apixaban against warfarin in ∼18 000 patients with AF, are expected to be available later this year.", "The Medco data did not contain information for patients receiving apixaban as it was not on the market at the time of analysis.RESULTS: Stroke and MB rates among RW NVAF patients during warfarin exposure were higher compared with event rates in patients treated with warfarin in ARISTOTLE (stroke: 5.29 vs.", "In the ARISTOTLE trial, apixaban when compared with warfarin reduced the rate of stroke, death, and bleeding.", "The ARISTOTLE trial compared apixaban with warfarin in 18 201 patients with AF and ≥ 1 additional risk factor for stroke.", "Compared with warfarin, apixaban (in the ARISTOTLE trial) and edoxaban (in the ENGAGE-AF trial) were shown to be superior or non-inferior, respectively, for reduction in stroke or SE risk in patients with AF.", "Efficacy and safety of apixaban compared with warfarin according to age for stroke prevention in atrial fibrillation: observations from the ARISTOTLE trial.", "Apixaban compared with warfarin in patients with atrial fibrillation and previous stroke or transient ischaemic attack: a subgroup analysis of the ARISTOTLE trial.", "In the ARISTOTLE trial, the rate of stroke or systemic embolism was reduced by apixaban compared with warfarin in patients with atrial fibrillation (AF)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22277459", "http://www.ncbi.nlm.nih.gov/pubmed/26424386", "http://www.ncbi.nlm.nih.gov/pubmed/25294786", "http://www.ncbi.nlm.nih.gov/pubmed/24657685", "http://www.ncbi.nlm.nih.gov/pubmed/27463942", "http://www.ncbi.nlm.nih.gov/pubmed/25497244", "http://www.ncbi.nlm.nih.gov/pubmed/25498373", "http://www.ncbi.nlm.nih.gov/pubmed/24281250", "http://www.ncbi.nlm.nih.gov/pubmed/22449118", "http://www.ncbi.nlm.nih.gov/pubmed/22933567", "http://www.ncbi.nlm.nih.gov/pubmed/22572202", "http://www.ncbi.nlm.nih.gov/pubmed/22056819", "http://www.ncbi.nlm.nih.gov/pubmed/23036896", "http://www.ncbi.nlm.nih.gov/pubmed/21740079", "http://www.ncbi.nlm.nih.gov/pubmed/25332806", "http://www.ncbi.nlm.nih.gov/pubmed/26839066", "http://www.ncbi.nlm.nih.gov/pubmed/23619028", "http://www.ncbi.nlm.nih.gov/pubmed/23026665", "http://www.ncbi.nlm.nih.gov/pubmed/24561548", "http://www.ncbi.nlm.nih.gov/pubmed/26447668", "http://www.ncbi.nlm.nih.gov/pubmed/22787066", "http://www.ncbi.nlm.nih.gov/pubmed/23859143", "http://www.ncbi.nlm.nih.gov/pubmed/23883416", "http://www.ncbi.nlm.nih.gov/pubmed/25547937", "http://www.ncbi.nlm.nih.gov/pubmed/23796193", "http://www.ncbi.nlm.nih.gov/pubmed/22684583", "http://www.ncbi.nlm.nih.gov/pubmed/25854636", "http://www.ncbi.nlm.nih.gov/pubmed/25173541", "http://www.ncbi.nlm.nih.gov/pubmed/22298161", "http://www.ncbi.nlm.nih.gov/pubmed/27306620", "http://www.ncbi.nlm.nih.gov/pubmed/23869941" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017428" ]

[ "REVIGO summarizes and visualizes long lists of gene ontology terms.", "REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views. REVIGO is freely available at http://revigo.irb.hr/.", "Outcomes of high-throughput biological experiments are typically interpreted by statistical testing for enriched gene functional categories defined by the Gene Ontology (GO). The resulting lists of GO terms may be large and highly redundant, and thus difficult to interpret.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views. REVIGO is freely available at http://revigo.irb.hr/." ]

[]

[ "REVIGO summarizes and visualizes long lists of gene ontology terms.", "REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views. REVIGO is freely available at http://revigo.irb.hr/.", "Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views.", "The resulting lists of GO terms may be large and highly redundant, and thus difficult to interpret.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures.", "REVIGO summarizes and visualizes long lists of gene ontology terms", "The resulting lists of GO terms may be large and highly redundant, and thus difficult to interpret.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures", "Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views", "The resulting lists of GO terms may be large and highly redundant, and thus difficult to interpret.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures.", "REVIGO summarizes and visualizes long lists of gene ontology terms.", "Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21789182" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063990" ]

[ "Onartuzumab is monoclonal antibody targeting MET. It works by inhibiting MET. Onartuzumab was tested for treatment of non-small cell lung carcinoma, adenocarcinoma of the stomach and gastroesophageal Junction, and recurrent glioblastoma." ]

[]

[ " In this study, e-training was used to train board-certified pathologists to evaluate non-small cell lung carcinoma for eligibility for treatment with onartuzumab, a MET-inhibiting agent.", "A Randomized Phase II Study of FOLFOX With or Without the MET Inhibitor Onartuzumab in Advanced Adenocarcinoma of the Stomach and Gastroesophageal Junction.", "MET immunohistochemistry expression as a biomarker of onartuzumab activity was also examined.", "CONCLUSION: The addition of onartuzumab to mFOLFOX6 in gastric cancer did not improve efficacy in an unselected population or in a MET immunohistochemistry-positive population.IMPLICATIONS FOR PRACTICE: The YO28252 study demonstrated that the addition of the anti-MET agent onartuzumab to mFOLFOX6 for treatment of gastric cancer did not improve efficacy in an overall study population or those selected for positive MET status by immunohistochemistry.", " The phase II study GO27819 investigated the monovalent MET inhibitor onartuzumab plus bevacizumab (Ona + Bev) versus placebo plus bevacizumab (Pla + Bev) in recurrent glioblastoma. ", "We report results of METGastric, a phase 3 trial of the MET inhibitor onartuzumab plus standard first-line chemotherapy for human epidermal growth factor receptor 2 (HER2)-negative, MET-positive, advanced GEC.", "Conclusion Onartuzumab plus erlotinib did not improve clinical outcomes, with shorter OS in the onartuzumab arm, compared with erlotinib in patients with MET-positive non-small-cell lung cancer.", "A recent example of a failed trial is the Phase III MetLung trial that compared the effects of the c-MET monovalent antibody onartuzumab with erlotinib versus erlotinib alone in late-stage non-small-cell lung cancer. ", "Monovalent antibody design and mechanism of action of onartuzumab, a MET antagonist with anti-tumor activity as a therapeutic agent.", "Because onartuzumab, a monovalent antibody to MET, blocks HGF-induced MET activation, the addition of onartuzumab to erlotinib may improve therapeutic efficacy.", "Because binding of sMET to onartuzumab in circulation resulted in increasing sMET serum concentrations due to reduced clearance, this likely renders sMET unsuitable as a pharmacodynamic biomarker for onartuzumab.", "Onartuzumab, a humanized, monovalent monoclonal anti-MET antibody, antagonizes MET signaling by inhibiting binding of its ligand, hepatocyte growth factor (HGF).", "Monovalent antibody design and mechanism of action of onartuzumab, a MET antagonist with anti-tumor activity as a therapeutic agent", "Nonclinical evaluation of the serum pharmacodynamic biomarkers HGF and shed MET following dosing with the anti-MET monovalent monoclonal antibody onartuzumab.", "Onartuzumab, a recombinant humanized monovalent monoclonal antibody directed against MET, the receptor for the hepatocyte growth factor, has been investigated for the treatment of solid tumors.", "Successful therapeutic targeting of the MET/HGF pathway has been achieved using monoclonal antibodies against the MET receptor and its ligand HGF in addition to MET-specific and multitargeted small-molecule tyrosine-kinase inhibitors with several drugs in late-phase clinical trials including onartuzumab, rilotumumab, tivantinib, and cabozantinib.", "Grade 3-5 adverse events (AEs) were seen in 88.3% of patients receiving onartuzumab and in 78.3% of patients receiving placebo, with serious AEs in 55% and 40%, respectively.The addition of onartuzumab to mFOLFOX6 in gastric cancer did not improve efficacy in an unselected population or in a MET immunohistochemistry-positive population.The YO28252 study demonstrated that the addition of the anti-MET agent onartuzumab to mFOLFOX6 for treatment of gastric cancer did not improve efficacy in an overall study population or those selected for positive MET status by immunohistochemistry.", "Monovalent antibody design and mechanism of action of onartuzumab, a MET antagonist with anti-tumor activity as a therapeutic agent." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23922054", "http://www.ncbi.nlm.nih.gov/pubmed/22917884", "http://www.ncbi.nlm.nih.gov/pubmed/25806189", "http://www.ncbi.nlm.nih.gov/pubmed/27937096", "http://www.ncbi.nlm.nih.gov/pubmed/25074413", "http://www.ncbi.nlm.nih.gov/pubmed/27349303", "http://www.ncbi.nlm.nih.gov/pubmed/24101053", "http://www.ncbi.nlm.nih.gov/pubmed/27918764", "http://www.ncbi.nlm.nih.gov/pubmed/24687921", "http://www.ncbi.nlm.nih.gov/pubmed/26445503", "http://www.ncbi.nlm.nih.gov/pubmed/23894056", "http://www.ncbi.nlm.nih.gov/pubmed/25522765", "http://www.ncbi.nlm.nih.gov/pubmed/24493831", "http://www.ncbi.nlm.nih.gov/pubmed/25777467", "http://www.ncbi.nlm.nih.gov/pubmed/24258345", "http://www.ncbi.nlm.nih.gov/pubmed/24959087", "http://www.ncbi.nlm.nih.gov/pubmed/27856142", "http://www.ncbi.nlm.nih.gov/pubmed/23882082", "http://www.ncbi.nlm.nih.gov/pubmed/27401892", "http://www.ncbi.nlm.nih.gov/pubmed/27918718", "http://www.ncbi.nlm.nih.gov/pubmed/23063071", "http://www.ncbi.nlm.nih.gov/pubmed/23536720", "http://www.ncbi.nlm.nih.gov/pubmed/25818471", "http://www.ncbi.nlm.nih.gov/pubmed/23810377" ]

[]

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

[ "MS patients with high neurodegeneration have changes in B cells characterized by down-regulation of B-cell-specific genes and increased activation status" ]

[ "yes" ]

[ "These results suggest that RRMS patients with radiological phenotypes showing high neurodegeneration have changes in B cells characterized by down-regulation of B-cell-specific genes and increased activation status", "Although the exact etiology is still obscure, the leading hypothesis behind MS relapses is acute inflammatory attacks on CNS myelin and axons. This complex process involves B and T cells together with macrophages and microglia.", "It is currently known that CD24 serves as a costimulatory factor of T cells that regulate their homeostasis and proliferation, while in B cells, CD24 is functionally involved in cell activation and differentiation. CD24 can enhance autoimmune diseases in terms of its protective role in the clonal deletion of autoreactive thymocytes", "Multiple B cell-dependent mechanisms contributing to inflammatory demyelination of the CNS have been explored using experimental autoimmune encephalomyelitis (EAE), a CD4 T cell-dependent animal model for multiple sclerosis. ", "The role of B cells in multiple sclerosis: rationale for B-cell-targeted therapies.", "Interest in CD8+ T cells and B cells was initially inspired by observations in multiple sclerosis rather than in animal models: CD8+ T cells predominate in multiple sclerosis lesions, oligoclonal immunoglobulin bands in CSF have long been recognised as diagnostic and prognostic markers, and anti-B-cell therapies showed considerable efficacy in multiple sclerosis.", "Differential effects of fingolimod on B-cell populations in multiple sclerosis.", "Unaltered regulatory B-cell frequency and function in patients with multiple sclerosis.", "B cells are increasingly recognized as major players in multiple sclerosis pathogenesis.", "These observations underscore the B cell's contribution to the putative underpinnings of multiple sclerosis.", "Data suggesting that B cells play a role in the pathogenesis of multiple sclerosis have been accumulating for the past five decades, demonstrating that the cerebrospinal fluid and central nervous system tissues of multiple sclerosis patients contain B cells, plasma cells, antibodies, and immunoglobulins.", "B-cell-targeted treatment for multiple sclerosis: mechanism of action and clinical data.", "Subset composition and cytokine production of B cells derived from peripheral blood mononuclear cells from multiple sclerosis patients under Fingolimod treatment, untreated multiple sclerosis patients and healthy controls were analyzed by flow cytometry and ELISA.", "In particular, antigen presentation between B cells and T cells, increased trafficking of B cells across the blood-brain barrier, and autoantibodies produced by plasma cells may contribute to the pathophysiology of autoimmune disorders such as multiple sclerosis.", "Accumulating evidence supports a major role of B cells in multiple sclerosis (MS) pathogenesis.", "Further research is needed to elucidate the pathology of B cells and their role in central nervous system autoimmune diseases, including multiple sclerosis.", "Targeting B cells in the treatment of multiple sclerosis: recent advances and remaining challenges", "phingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25267439", "http://www.ncbi.nlm.nih.gov/pubmed/19996075", "http://www.ncbi.nlm.nih.gov/pubmed/26857494", "http://www.ncbi.nlm.nih.gov/pubmed/26810546", "http://www.ncbi.nlm.nih.gov/pubmed/25666875", "http://www.ncbi.nlm.nih.gov/pubmed/26604134", "http://www.ncbi.nlm.nih.gov/pubmed/26732544", "http://www.ncbi.nlm.nih.gov/pubmed/20558389", "http://www.ncbi.nlm.nih.gov/pubmed/27120609", "http://www.ncbi.nlm.nih.gov/pubmed/24679343", "http://www.ncbi.nlm.nih.gov/pubmed/1839591", "http://www.ncbi.nlm.nih.gov/pubmed/25750917", "http://www.ncbi.nlm.nih.gov/pubmed/23634189", "http://www.ncbi.nlm.nih.gov/pubmed/18474519", "http://www.ncbi.nlm.nih.gov/pubmed/18388801", "http://www.ncbi.nlm.nih.gov/pubmed/18388800", "http://www.ncbi.nlm.nih.gov/pubmed/20970478", "http://www.ncbi.nlm.nih.gov/pubmed/24526661", "http://www.ncbi.nlm.nih.gov/pubmed/26724102", "http://www.ncbi.nlm.nih.gov/pubmed/18388796", "http://www.ncbi.nlm.nih.gov/pubmed/20535037", "http://www.ncbi.nlm.nih.gov/pubmed/25620021", "http://www.ncbi.nlm.nih.gov/pubmed/25895531", "http://www.ncbi.nlm.nih.gov/pubmed/21216828", "http://www.ncbi.nlm.nih.gov/pubmed/15800022" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001402", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009103", "http://www.disease-ontology.org/api/metadata/DOID:2377" ]

[ "Molluscum contagiosum virus (MCV) is a human poxvirus that causes tumor-like skin lesions." ]

[ "human poxvirus" ]

[ "Molluscum contagiosum virus (MCV), a poxvirus pathogenic for humans, replicates well in human skin in vivo, but not in vitro in standard monolayer cell cultures.", "Molluscum contagiosum virus (MCV) is a poxvirus that causes tumor-like skin lesions. ", "Molluscum contagiosum poxvirus (MCV) type 1 and type 2 encode two chemokine-like proteins MC148R1 and MC148R2. I", "Molluscum contagiosum virus (MCV) is a common, human poxvirus that causes small papular skin lesions that persist for long periods without signs of inflammation. ", "All poxviruses studied encode a type 1B topoisomerase that introduces transient nicks into DNA and thereby relaxes DNA supercoils. Here we present a study of the protein domains of the topoisomerase of the poxvirus molluscum contagiosum (MCV), which allows us to specify DNA contacts made by different domains. ", "Molluscum contagiosum virus (MCV) causes molluscum contagiosum (MC) in both children and adults.", "MC54L, the IL-18 binding protein of the human poxvirus that causes molluscum contagiosum, is unique in having a C-terminal tail of nearly 100 amino acids that is dispensable for IL-18 binding.", "Molluscum contagiosum is a common superficial skin infection caused by the poxvirus, Molluscum Contagiosum virus.", "Molluscum contagiosum is a common skin and mucosal disease of viral origin, caused by molluscum contagiosum virus (MCV) virus of poxvirus family.", "Molluscum contagiosum is a benign contagious disease caused by a poxvirus.", "Molluscum contagiosum is a common superficial skin infection caused by the poxvirus, Molluscum Contagiosum virus", "Molluscum contagiosum is a common skin and mucosal disease of viral origin, caused by molluscum contagiosum virus (MCV) virus of poxvirus family", "Molluscum contagiosum is a viral infection of the skin and mucous membranes that is caused by infection with the molluscum contagiosum virus", "Molluscum contagiosum (MC) is a very common benign self-limiting cutaneous viral infection caused by molluscum contagiosum virus", "Molluscum contagiosum is caused by the molluscum contagiosum virus (MCV) and is a very common skin disorder mainly involving young children Cryotherapy, curettage or some topical therapies have been applied for MC, but all of these treatments need several sessions, can be somewhat ineffective, and very painful", "Molluscum contagiosum virus (MCV) causes an innocuous yet persistent skin infection in immunocompetent individuals and is spread by contact with lesions", "Molluscum contagiosum virus (MCV) is a poxvirus that causes localized papules in healthy persons", "Molluscum contagiosum is a virus that causes characteristic pearly lesions on the surface of the skin", "Molluscum contagiosum virus (MCV) is a poxvirus that causes tumor-like skin lesions", "Molluscum contagiosum virus is a human and animal dermatotropic pathogen, which causes a severe disease in immunocompromised individuals", "Given that human diseases caused by poxviruses can be as lethal as smallpox or as benign as Molluscum contagiosum, and that vaccinia virus, the prototypic member of the pox family, persists as a mainstay of vaccine design and has potential as an oncolytic virus for tumor therapy, further research in this area remains important.", "These cases support earlier evidence that the molluscum contagiosum virus may act as cases support earlier evidence that the molluscum contagiosum virus may act as an opportunistic pathogen.", "Molluscum contagiosum is a viral infection of the skin and mucous membranes that is caused by infection with the molluscum contagiosum virus." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16390992", "http://www.ncbi.nlm.nih.gov/pubmed/23372568", "http://www.ncbi.nlm.nih.gov/pubmed/24155912", "http://www.ncbi.nlm.nih.gov/pubmed/18950398", "http://www.ncbi.nlm.nih.gov/pubmed/18616033", "http://www.ncbi.nlm.nih.gov/pubmed/9275219", "http://www.ncbi.nlm.nih.gov/pubmed/25186152", "http://www.ncbi.nlm.nih.gov/pubmed/9525670", "http://www.ncbi.nlm.nih.gov/pubmed/3814509", "http://www.ncbi.nlm.nih.gov/pubmed/26672647", "http://www.ncbi.nlm.nih.gov/pubmed/22301546", "http://www.ncbi.nlm.nih.gov/pubmed/8938977", "http://www.ncbi.nlm.nih.gov/pubmed/21802105", "http://www.ncbi.nlm.nih.gov/pubmed/22688765", "http://www.ncbi.nlm.nih.gov/pubmed/24491904", "http://www.ncbi.nlm.nih.gov/pubmed/881573", "http://www.ncbi.nlm.nih.gov/pubmed/23598933", "http://www.ncbi.nlm.nih.gov/pubmed/8850036", "http://www.ncbi.nlm.nih.gov/pubmed/24155550", "http://www.ncbi.nlm.nih.gov/pubmed/15284701", "http://www.ncbi.nlm.nih.gov/pubmed/21228810", "http://www.ncbi.nlm.nih.gov/pubmed/22262788", "http://www.ncbi.nlm.nih.gov/pubmed/10500212", "http://www.ncbi.nlm.nih.gov/pubmed/10502526", "http://www.ncbi.nlm.nih.gov/pubmed/25072249", "http://www.ncbi.nlm.nih.gov/pubmed/12552001" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:8867", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008977", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008976" ]

[ "Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses." ]

[]

[ "Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. ", "Rapid identification of HEXA mutations in Tay-Sachs patients.", "Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside.", "Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase.", "Tay-Sachs disease (TSD) results from mutations in HEXA that cause Hex A deficiency. ", "Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25606403", "http://www.ncbi.nlm.nih.gov/pubmed/20100466", "http://www.ncbi.nlm.nih.gov/pubmed/7717398", "http://www.ncbi.nlm.nih.gov/pubmed/2220809", "http://www.ncbi.nlm.nih.gov/pubmed/15108204", "http://www.ncbi.nlm.nih.gov/pubmed/9073025" ]

[]

[]

[ "Behet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology.", "Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology.", "Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology. ", "behçet's disease (bd) is a complex chronic relapsing inflammatory disorder of unknown etiology." ]

[]

[ "Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology. ", " Behçet disease is a systemic disease of young adults characterized by venous occlusion in both the deep venous and retinal circulations. In severe ocular disease, blindness may occur despite immunosuppressive treatment", "Behçet disease is a chronic relapsing inflammatory disease affecting many different organs. ", "Behçet's disease is a multisystem disease featuring mucocutaneous, ocular, articular, vascular, intestinal, urogenital, and neurologic involvement and occurs with a high prevalence in the Mediterranean including Turkey. ", "Behçet syndrome is a chronic disease hallmarked by inflammation of the blood vessels that is related to an autoimmune reaction caused by inherited susceptibility due to specific genes and environmental factors, probably components of infectious microorganisms, which turn on or get going the disease in genetically susceptible subjects", "Behçet disease (BD) is a rare relapsing, multisystem vasculitis characterised by recurrent oral and genital ulcers, and uveitis.", "Behçet's disease, also known as the Silk Road Disease, is a rare systemic vasculitis disorder of unknown etiology. Recurrent attacks of acute inflammation characterize Behçet's disease. ", "Behçet's disease is a chronic multisystem vasculitis of unknown etiology that involves skin, mucous membranes, eyes, blood vessels, joints, central nervous system, digestive system, and occasionally other organs.", "Behcet's disease is a multisystem inflammatory disorder, and its etiology has not been defined clearly yet. ", "Behçet's disease is a systemic inflammatory disease presented with recurrent oral aphtha, cutaneous manifestations, uveitis, and genital ulcer. ", "ehçet's disease is a systemic immunoinflammatory disease of young adults characterized by systemic vasculitis of arteries and veins." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22041429", "http://www.ncbi.nlm.nih.gov/pubmed/26868128", "http://www.ncbi.nlm.nih.gov/pubmed/22310876", "http://www.ncbi.nlm.nih.gov/pubmed/25447032", "http://www.ncbi.nlm.nih.gov/pubmed/10511031", "http://www.ncbi.nlm.nih.gov/pubmed/26740268", "http://www.ncbi.nlm.nih.gov/pubmed/25610186", "http://www.ncbi.nlm.nih.gov/pubmed/27914129" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:13241", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001528", "http://www.disease-ontology.org/api/metadata/DOID:1670" ]

[ "Inhalation of Yersinia pestis results in primary pneumonic plague." ]

[ "yes" ]

[ "Inhalation of Yersinia pestis results in primary pneumonic plague, a highly lethal and rapidly progressing necrotizing pneumonia", "Yersinia pestis causes the fatal respiratory disease pneumonic plague.", "Pulmonary infection by Yersinia pestis causes pneumonic plague, a rapidly progressing and often fatal disease.", "Pulmonary infection with the bacterium Yersinia pestis causes pneumonic plague, an often-fatal disease for which no vaccine is presently available.", "Yersinia pestis causes the fatal respiratory disease pneumonic plague", "Pneumonic plague is a deadly respiratory disease caused by Yersinia pestis", "On July 8, 2014, the Colorado Department of Public Health and Environment (CDPHE) laboratory identified Yersinia pestis, the bacterium that causes plague, in a blood specimen collected from a man (patient A) hospitalized with pneumonia.", "Early emergence of Yersinia pestis as a severe respiratory pathogen.", "The aerosol form of the bacterium Yersinia pestis causes the pneumonic plague, a rapidly fatal disease", " plague bacterium, Yersinia pestis, has historically been regarded as one of the deadliest pathogens known to mankind, having caused three major pandemics. After being transmitted by the bite of an infected flea arthropod vector, Y. pestis can cause three forms of human plague: bubonic, septicemic, and pneumonic,", "Plague is an infectious disease caused by the Yersinia pestis microorganism, which is transmitted to the human host from a natural reservoir (different rodent species) by a flea bite. Plague is still encountered in humans in the areas of its enzootic prevalence in local rodent populations. Infection by flea bite results in a bubonic or septicemic plague, possibly complicated by secondary pneumonia. The person with pneumonic symptoms may be a source of a droplet-borne inhalatory infection for other people who consequently develop primary pneumonic plague. ", "uring pneumonic plague, the bacterium Yersinia pestis elicits the development of inflammatory lung lesions that continue to expand throughout infection. ", "In November 2006, the Uganda Ministry of Health received reports of an increase in bubonic plague cases and a possible outbreak of pneumonic plague among residents in the Arua and Nebbi districts. ", "Pneumonic plague is a fatal disease caused by Yersinia pestis that is associated with a delayed immune response in the lungs" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17041851", "http://www.ncbi.nlm.nih.gov/pubmed/26463167", "http://www.ncbi.nlm.nih.gov/pubmed/16239527", "http://www.ncbi.nlm.nih.gov/pubmed/26123398", "http://www.ncbi.nlm.nih.gov/pubmed/25928467", "http://www.ncbi.nlm.nih.gov/pubmed/25974210", "http://www.ncbi.nlm.nih.gov/pubmed/16714568", "http://www.ncbi.nlm.nih.gov/pubmed/19629028", "http://www.ncbi.nlm.nih.gov/pubmed/12474416", "http://www.ncbi.nlm.nih.gov/pubmed/16964684", "http://www.ncbi.nlm.nih.gov/pubmed/24721571", "http://www.ncbi.nlm.nih.gov/pubmed/25691593" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015010", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015007", "http://www.disease-ontology.org/api/metadata/DOID:0050069", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015009" ]

[ "Bupropion is used to treat Obesity, for smoking cessation and for depression" ]

[ "weight loss in obesity", "smoking cessation", "depression" ]

[ " For genotype, genes associated with nicotinic acetylcholine receptors (nAChRs) and related proteins have been found to predict response to first-line medications (e.g. nicotine replacement therapy [NRT], bupropion, or varenicline) or quitting over time without a controlled treatment trial. ", "The approval of drug combinations, such as phentermine/topiramate and bupropion/naltrexone are also noteworthy, the components of which have been previously approved, but not necessarily for obesity as main indication.", "Two drugs, phentermine plus topiramate and lorcaserin, have recently been approved by the US Food and Drug Administration for the indication of obesity; a third, bupropion plus naltrexone, is under consideration for approval. ", "Bupropion SR is preferred to subjects with depression or smokers who have failed with the previous two agents, due to the many contra-indications and side effects of bupropion SR. With one of the 3 agents combined with follow-up visits with counselling, one can expect a 1-year quit rate around 20-25%.", "In vitro intrinsic clearances were likewise different for bupropion enantiomers.CONCLUSIONS: Stereoselective bupropion hydroxylation may have implications for the therapeutic efficacy of bupropion as an antidepressant or smoking cessation therapy, and for the use of bupropion as an in vivo phenotypic probe for CYP2B6 activity.", "PURPOSE: Hydroxylation of the antidepressant and smoking deterrent drug bupropion is a clinically important bioactivation and elimination pathway.", "Although not U.S. Food and Drug Administration approved for these indications, bupropion has also been used as an adjunctive treatment to reverse antidepressant-induced sexual dysfunction and to augment anti-depressant efficacy in partial responders and non-responders to other agents.Bupropion has played and will continue to play an important role as a treatment for major depressive disorder in adults, as well as for other related disorders", "Clinically, bupropion is used as a treatment for two indications, as an antidepressant, the indication for which it was developed, and as a tobacco use cessation agent", "Sustained release bupropion (amfebutamone) is a non-nicotine agent that is indicated as an aid to smoking cessation. ", "Bupropion was introduced for smoking cessation following a pivotal trial showing that it gave improved efficacy over the nicotine patch and also suggesting combination treatment was beneficial. ", "Compared with a placebo control, bupropion approximately doubles smoking quit rates. ", "Over the past decade, bupropion has become a major pharmacotherapy for smoking cessation in the Western world. Unlike other smoking cessation pharmacotherapies, bupropion is a non-nicotine treatment", "Bupropion has been tested in over 40 controlled clinical trials and has been associated with higher rates of treatment discontinuation due to adverse events than NRTs. ", "Bupropion SR is a useful oral and non-nicotine form of pharmacotherapy for smoking cessation.", "everal new drugs for the treatment of obesity are either licensed in some parts of the world, submitted for registration, or completing phase III trials. These include combinations (at low dose) of existing drugs, e.g., bupropion + naltrexone (Contrave)," ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17227286", "http://www.ncbi.nlm.nih.gov/pubmed/16027765", "http://www.ncbi.nlm.nih.gov/pubmed/16831112", "http://www.ncbi.nlm.nih.gov/pubmed/9554323", "http://www.ncbi.nlm.nih.gov/pubmed/16546007", "http://www.ncbi.nlm.nih.gov/pubmed/12043548", "http://www.ncbi.nlm.nih.gov/pubmed/21274361", "http://www.ncbi.nlm.nih.gov/pubmed/25661549", "http://www.ncbi.nlm.nih.gov/pubmed/18619194", "http://www.ncbi.nlm.nih.gov/pubmed/15155135", "http://www.ncbi.nlm.nih.gov/pubmed/15479310", "http://www.ncbi.nlm.nih.gov/pubmed/27038550", "http://www.ncbi.nlm.nih.gov/pubmed/26137782", "http://www.ncbi.nlm.nih.gov/pubmed/25223901", "http://www.ncbi.nlm.nih.gov/pubmed/25895022", "http://www.ncbi.nlm.nih.gov/pubmed/18264876", "http://www.ncbi.nlm.nih.gov/pubmed/18219560" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016642", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016540", "http://www.biosemantics.org/jochem#4095874", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056687", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D061485", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4276121", "http://www.biosemantics.org/jochem#4276121" ]

[ "BAX is a central death regulator that controls apoptosis in normal and cancer cells", "pro-apoptotic protein Bax" ]

[ "bax promotes Apoptosis" ]

[ "pro-apoptotic protein Bax", "Bax, a central cell death regulator, is an indispensable gateway to mitochondrial dysfunction and a major proapoptotic member of the B-cell lymphoma 2 (Bcl-2) family proteins that control apoptosis in normal and cancer cells", "Thus, PP2A may function as a physiological Bax regulatory phosphatase that not only dephosphorylates Bax but also activates its proapoptotic function.", "The ability of the mutants to protect against Bax-mediated cell death is divided into three groups: (1) group I, retention of anti-Bax function in both the Val129 and Met129 mutants; (2) group II, retention of anti-Bax function only in Val129 mutants; and (3) group III, reduction or no anti-Bax function in Val129 and Met129 mutants.", "A popular model of BCL-2 and BAX involvement in apoptosis suggests that upon apoptosis induction cytosolic BAX translocates to the mitochondria, where it displays the pro-apoptotic function, which involves its homodimerization.", "The purpose of this study was to investigate the expression of the gene coding for the antiapoptotic molecule Bcl-2, the proapoptotic molecule Bax, and the apoptosis executor enzyme caspase-3 in preimplantation renal biopsies (PIB) as markers for delayed graft function.In this prospective single-center study, gene expression levels were evaluated using real-time TaqMan polymerase chain reaction in PIB of kidneys from 72 deceased donors (DDs) and 18 living donors (LDs).CASP3 and BAX expression levels were higher, whereas those of BCL2 were lower, in DD than in LD PIB", "The function Bax and/or Bak in constituting a gateway for mitochondrial apoptosis in response to apoptotic stimuli has been unequivocally demonstrated", "Bax is a major proapoptotic member of the Bcl2 family that is required for apoptotic cell death.", "Bax is a proapoptotic member of the Bcl-2 family of proteins which localizes to and uses mitochondria as its major site of action.", "death-promoting Bax protein", "The suppressors function through heterodimerization with the death promoters, Bax", "Bax- and Bak-mediated apoptosis severely limits adenoviral replication,", "Bax a pro-apoptotic member localizes as monomers in the cytosol of healthy cells and accumulates as oligomers in mitochondria of apoptotic cell", "Bax and Bak (Bax/Bak) are essential pro-apoptotic proteins of the Bcl-2 family that trigger mitochondrial outer membrane permeabilization (MOMP) in a Bcl-2/Bcl-xL-inhibitable manner.", "BAX protein plays a key role in the mitochondria-mediated apoptosis.", "The multi-BCL-2 homology domain pro-apoptotic BCL-2 family members BAK and BAX have critical roles in apoptosis. They are essential for mitochondrial outer-membrane permeabili", "Members of the Bcl-2 family play key roles as proapoptotic (e.g., Bax) and antiapoptotic (e.g., Bcl-x(L)) regulators of programmed cell death", "The Bcl-2 associated X protein (Bax), belonging to the Bcl-2 family, plays a pivotal role in mitochondria-dependent apoptosis. ", "The murine proapoptotic protein Bax ", "Bax is a pro-apoptotic member of the Bcl-2 family proteins involved in the release of apoptogenic factors from mitochondria to the cytosol.", "activated Bax forms large oligomers that permeabilize the outer mitochondrial membrane, thereby committing cells to apoptosis," ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19138672", "http://www.ncbi.nlm.nih.gov/pubmed/12732850", "http://www.ncbi.nlm.nih.gov/pubmed/17494694", "http://www.ncbi.nlm.nih.gov/pubmed/24712408", "http://www.ncbi.nlm.nih.gov/pubmed/27164337", "http://www.ncbi.nlm.nih.gov/pubmed/8798665", "http://www.ncbi.nlm.nih.gov/pubmed/23744350", "http://www.ncbi.nlm.nih.gov/pubmed/24503763", "http://www.ncbi.nlm.nih.gov/pubmed/21069436", "http://www.ncbi.nlm.nih.gov/pubmed/11932420", "http://www.ncbi.nlm.nih.gov/pubmed/22442658", "http://www.ncbi.nlm.nih.gov/pubmed/11340567", "http://www.ncbi.nlm.nih.gov/pubmed/17074758", "http://www.ncbi.nlm.nih.gov/pubmed/16679323", "http://www.ncbi.nlm.nih.gov/pubmed/23784543", "http://www.ncbi.nlm.nih.gov/pubmed/20885444", "http://www.ncbi.nlm.nih.gov/pubmed/19680558", "http://www.ncbi.nlm.nih.gov/pubmed/24269152", "http://www.ncbi.nlm.nih.gov/pubmed/8600029", "http://www.ncbi.nlm.nih.gov/pubmed/8887678", "http://www.ncbi.nlm.nih.gov/pubmed/20723427", "http://www.ncbi.nlm.nih.gov/pubmed/9565621", "http://www.ncbi.nlm.nih.gov/pubmed/25497728", "http://www.ncbi.nlm.nih.gov/pubmed/26395559", "http://www.ncbi.nlm.nih.gov/pubmed/15642728", "http://www.ncbi.nlm.nih.gov/pubmed/18547146", "http://www.ncbi.nlm.nih.gov/pubmed/26252372", "http://www.ncbi.nlm.nih.gov/pubmed/10669738" ]

[]

[ "http://www.uniprot.org/uniprot/BAX_ECOLI", "http://amigo.geneontology.org/amigo/term/GO:0065009", "http://www.uniprot.org/uniprot/BAX_BOVIN", "http://www.uniprot.org/uniprot/BAX_RAT", "http://www.uniprot.org/uniprot/BAX_HUMAN", "http://www.uniprot.org/uniprot/BAX_MOUSE" ]

[ "Ctf4 links DNA replication with sister chromatid cohesion establishment by recruiting the Chl1 helicase to the replisome. The Eco1 acetyltransferase, helped by factors including Ctf4 and Chl1, concomitantly acetylates the chromosomal cohesin complex to stabilize its cohesive links.", "Genetic analyses revealed that Rmi1 promoted sister chromatid cohesion in a process that was distinct from both the cohesion establishment pathway involving Ctf4, Csm3, and Chl1 and the pathway involving the acetylation of Smc3. Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment." ]

[]

[ "Ctf4 Links DNA Replication with Sister Chromatid Cohesion Establishment by Recruiting the Chl1 Helicase to the Replisome.", "The Eco1 acetyltransferase, helped by factors including Ctf4 and Chl1, concomitantly acetylates the chromosomal cohesin complex to stabilize its cohesive links. Here we show that Ctf4 recruits the Chl1 helicase to the replisome via a conserved interaction motif that Chl1 shares with GINS and polymerase α.", "The Chl1 helicase facilitates replication fork progression under conditions of nucleotide depletion, partly independently of Ctf4 interaction. Conversely, Ctf4 interaction, but not helicase activity, is required for Chl1's role in sister chromatid cohesion. A physical interaction between Chl1 and the cohesin complex during S phase suggests that Chl1 contacts cohesin to facilitate its acetylation. Our results reveal how Ctf4 forms a replisomal interaction hub that coordinates replication fork progression and sister chromatid cohesion establishment.", "Genetic analyses revealed that Rmi1 promoted sister chromatid cohesion in a process that was distinct from both the cohesion establishment pathway involving Ctf4, Csm3, and Chl1 and the pathway involving the acetylation of Smc3.", "Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment.", "We show here that CTF8, CTF4 and a helicase encoded by CHL1 are required for efficient sister chromatid cohesion in unperturbed mitotic cells, and provide evidence that Chl1 functions during S-phase.", "Our results suggest that Chl1 and Ctf4 are directly involved in homologous recombination repair rather than acting indirectly via the establishment of sister chromatid cohesion.", "Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment.", "Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment", "We show here that CTF8, CTF4 and a helicase encoded by CHL1 are required for efficient sister chromatid cohesion in unperturbed mitotic cells, and provide evidence that Chl1 functions during S-phase", "Genetic analyses revealed that Rmi1 promoted sister chromatid cohesion in a process that was distinct from both the cohesion establishment pathway involving Ctf4, Csm3, and Chl1 and the pathway involving the acetylation of Smc3", "Sister-chromatid cohesion mediated by the alternative RF-CCtf18/Dcc1/Ctf8, the helicase Chl1 and the polymerase-alpha-associated protein Ctf4 is essential for chromatid disjunction during meiosis II.", "Genetic analyses revealed that Rmi1 promoted sister chromatid cohesion in a process that was distinct from both the cohesion establishment pathway involving Ctf4, Csm3, and Chl1 and the pathway involving the acetylation of Smc3. ", "Ctf4 Links DNA Replication with Sister Chromatid Cohesion Establishment by Recruiting the Chl1 Helicase to the Replisome.", "Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment..", "Our results suggest that Chl1 and Ctf4 are directly involved in homologous recombination repair rather than acting indirectly via the establishment of sister chromatid cohesion.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23334284", "http://www.ncbi.nlm.nih.gov/pubmed/17222391", "http://www.ncbi.nlm.nih.gov/pubmed/15226378", "http://www.ncbi.nlm.nih.gov/pubmed/27397686", "http://www.ncbi.nlm.nih.gov/pubmed/23036200" ]

[ { "p": "http://www.w3.org/2004/02/skos/core#prefLabel", "s": "http://linkedlifedata.com/resource/#_513031343534001D", "o": "CTF4" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C1427963", "o": "http://linkedlifedata.com/resource/umls/label/A20695577" }, { "p": "http://www.w3.org/2004/02/skos/core#exactMatch", "s": "http://purl.uniprot.org/uniprot/Q01454", "o": "http://purl.uniprot.org/uniprot/Q01454" }, { "p": "http://purl.uniprot.org/core/encodedBy", "s": "http://purl.uniprot.org/uniprot/Q01454", "o": "http://linkedlifedata.com/resource/#_513031343534001D" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://purl.uniprot.org/uniprot/Q01454", "o": "CTF4_YEAST" } ]

[ "http://amigo.geneontology.org/amigo/term/GO:0034089", "http://www.biosemantics.org/jochem#4264134", "http://amigo.geneontology.org/amigo/term/GO:0034085", "http://amigo.geneontology.org/amigo/term/GO:0034087", "http://www.biosemantics.org/jochem#4265011" ]

[ "Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by diffuse or localized dilation and eventual rupture of the enteric lymphatic vessels in mucosa, submucosa, and/or subserosa. Lymph, rich in all kinds of proteins and lymphocytes, leaks into the gastrointestinal tract via the affected lymphatic vessels causing hypoproteinemia and lymphopenia." ]

[]

[ "Primary intestinal lymphangiectasia (PIL) is a rare disorder of unknown etiology characterized by diffuse or localized dilation and eventual rupture of the enteric lymphatic vessels in mucosa, submucosa, and/or subserosa. Lymph, rich in all kinds of proteins and lymphocytes, leaks into the gastrointestinal tract via the affected lymphatic vessels causing hypoproteinemia and lymphopenia. ", "PIL, effusions, and lymphedema can be the features of multisegmental generalized lymphatic dysplasia.", "A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE.", "Primary intestinal lymphangiectasia is a rare cause of protein-losing enteropathy and usually presents with intermittent diarrhea or malnutrition. Diagnosis depends largely on its pathologic condition demonstrating greatly dilated lymphatics mainly in the lamina propria of the mucosa. ", "The histopathologic condition of the resected small intestine showed lymphatic dilation limited mainly to the subserosa and mesentery but was not prominent in the mucosa.", "Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.", "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is an exudative enteropathy resulting from morphologic abnormalities in the intestinal lymphatics.", "Primary intestinal lymphangiectasia (PIL), so-called Waldmann's disease, is an uncommon condition, characterized by dilated intestinal submucosal and subserosal lymphatics of the gastrointestinal tract.", "Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia.", "Primary intestinal lymphangiectasia (PIL), also known as Waldmann's disease, is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia.", "Primary intestinal lymphangiectasia (PIL) is a protein-losing, exsudative gastroenteropathy causing lymphatic obstruction.", "Primary intestinal lymphangiectasia (PIL) is a protein-losing enteropathy characterized by tortuous and dilated lymph channels of the small bowel.", "Primary intestinal lymphangiectasia (PIL) is a rare disease of intestinal lymphatics presenting with hypoproteinemia, bilateral lower limb edema, ascites, and protein losing enteropathy.", "Exudative enteropathy secondary to primary intestinal lymphangiectasia (PIL) is characterized by lymphopenia, hypogammaglobulinemia and hypoalbuminemia resulting from leakage of lymph fluid into the intestinal tract", "Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine", "Primary intestinal lymphangiectasia (PIL) is a protein-losing enteropathy characterized by tortuous and dilated lymph channels of the small bowel", "Primary intestinal lymphangiectasia (PIL) is a rare disease of intestinal lymphatics presenting with hypoproteinemia, bilateral lower limb edema, ascites, and protein losing enteropathy", "Primary intestinal lymphangiectasia (PIL), so-called Waldmanns disease, is an uncommon condition, characterized by dilated intestinal submucosal and subserosal lymphatics of the gastrointestinal tract", "Primary intestinal lymphangiectasia (Waldmanns disease) is a rare disease characterized by dilated lymphatics in the small bowel leading to an exudative enteropathy with lymphopenia, hypoalbuminemia and hypogammaglobulinemia.We report the case of a 23 year-old male who presented with chronic anemia and in whom primary intestinal lymphangiectasia was diagnosed", "We report a series of 4 children from Chennai, India presenting with anasarca, recurrent diarrhea, hypoproteinemia and confirmatory features of PIL on endoscopy and histopathology.", "Primary intestinal lymphangiectasia (PIL) is a protein-losing, exsudative gastroenteropathy causing lymphatic obstruction. ", "Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by a congenital malformation of the lymphatic vessels of the small intestine causing insufficient drainage and leakage of lymph fluid.", "Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine.", "Primary intestinal lymphangiectasia (PIL) or Waldmann's disease is a rare protein-losing gastroenteropathy of unknown etiology." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19853733", "http://www.ncbi.nlm.nih.gov/pubmed/26217101", "http://www.ncbi.nlm.nih.gov/pubmed/26962779", "http://www.ncbi.nlm.nih.gov/pubmed/8650761", "http://www.ncbi.nlm.nih.gov/pubmed/23229460", "http://www.ncbi.nlm.nih.gov/pubmed/23316917", "http://www.ncbi.nlm.nih.gov/pubmed/24449480", "http://www.ncbi.nlm.nih.gov/pubmed/23626516", "http://www.ncbi.nlm.nih.gov/pubmed/26405709", "http://www.ncbi.nlm.nih.gov/pubmed/18855225", "http://www.ncbi.nlm.nih.gov/pubmed/16292099", "http://www.ncbi.nlm.nih.gov/pubmed/22110841", "http://www.ncbi.nlm.nih.gov/pubmed/19887697", "http://www.ncbi.nlm.nih.gov/pubmed/18294365", "http://www.ncbi.nlm.nih.gov/pubmed/23180957", "http://www.ncbi.nlm.nih.gov/pubmed/26908672", "http://www.ncbi.nlm.nih.gov/pubmed/25943403", "http://www.ncbi.nlm.nih.gov/pubmed/20812055", "http://www.ncbi.nlm.nih.gov/pubmed/26169531" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008201", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008200", "http://www.disease-ontology.org/api/metadata/DOID:2402", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007413", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007410", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007422", "http://www.disease-ontology.org/api/metadata/DOID:5295" ]

[ "Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases.\nMore than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today.\t\nThe patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration." ]

[]

[ "Congenital disorder of glycosylation (CDG), formerly representing a group of diseases due to defects in the biosynthetic pathway of protein N-glycosylation, currently covers a wide range of disorders affecting glycoconjugates. ", "Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder.", "Glycosylation is an integral part in health and disease, as emphasized by the growing number of identified glycosylation defects. In humans, proteins are modified with a diverse range of glycoforms synthesized in complex biosynthetic pathways. Glycosylation disorders have been described in congenital disorders of glycosylation (CDG) as well as in acquired disease conditions such and non-alcoholic fatty liver disease (NAFLD). A hallmark in a subset of CDG cases is the reduced glycosylation site occupancy of asparagine-linked glycans. ", "Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases.", " More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. ", "The patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26873821", "http://www.ncbi.nlm.nih.gov/pubmed/27725718", "http://www.ncbi.nlm.nih.gov/pubmed/25840006", "http://www.ncbi.nlm.nih.gov/pubmed/26238249", "http://www.ncbi.nlm.nih.gov/pubmed/24157261" ]

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[]

[ "Compared to the JASPAR CORE collection, JASPAR 2016 has been expanded with 494 new TF binding profiles (315 in vertebrates, 11 in nematodes, 3 in insects, 1 in fungi and 164 in plants) and 59 profiles (58 in vertebrates and 1 in fungi) have been updated. The introduced profiles represent an 83% expansion and 10% update when compared to the previous release. The structural annotation of the TF DNA binding domains (DBDs) has been updated following a published hierarchical structural classification. In addition, 130 transcription factor flexible models trained on ChIP-seq data for vertebrates, which capture dinucleotide dependencies within TF binding sites were introduced . The new JASPAR release is accompanied by a new web tool to infer JASPAR TF binding profiles recognized by a given TF protein sequence. Moreover, users are provided with a Ruby module complementing the JASPAR API to ease programmatic access and use of the JASPAR collection of profiles. JASPAR2016 R/Bioconductor data package is also provided with the data of this release." ]

[ "494 new TF binding profiles (315 in vertebrates, 11 in nematodes, 3 in insects, 1 in fungi and 164 in plants) and updated 59 profiles (58 in vertebrates and 1 in fungi)", "Updated structural annotation of the TF DNA binding domains (DBDs) following a published hierarchical structural classification", "130 transcription factor flexible models trained on ChIP-seq data for vertebrates, which capture dinucleotide dependencies within TF binding sites", "A new web tool to infer JASPAR TF binding profiles recognized by a given TF protein sequence", "A Ruby module complementing the JASPAR API to ease programmatic access and use of the JASPAR collection of profiles", "JASPAR2016 R/Bioconductor data package" ]

[ "For this 2016 release, we expanded the JASPAR CORE collection with 494 new TF binding profiles (315 in vertebrates, 11 in nematodes, 3 in insects, 1 in fungi and 164 in plants) and updated 59 profiles (58 in vertebrates and 1 in fungi). The introduced profiles represent an 83% expansion and 10% update when compared to the previous release. We updated the structural annotation of the TF DNA binding domains (DBDs) following a published hierarchical structural classification. In addition, we introduced 130 transcription factor flexible models trained on ChIP-seq data for vertebrates, which capture dinucleotide dependencies within TF binding sites. This new JASPAR release is accompanied by a new web tool to infer JASPAR TF binding profiles recognized by a given TF protein sequence. Moreover, we provide the users with a Ruby module complementing the JASPAR API to ease programmatic access and use of the JASPAR collection of profiles. Finally, we provide the JASPAR2016 R/Bioconductor data package with the data of this release" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26531826" ]

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[]

[ "Tafazzin is a phospholipid transacylase that transfers acyl chains with unsaturated fatty acids from phospholipids to monolysocardiolipin to generate cardiolipin with unsaturated fatty acids on mitochondrial membrane." ]

[]

[ "Tafazzin is a transacylase that transfers acyl chains with unsaturated fatty acids from phospholipids to monolysocardiolipin to generate cardiolipin with unsaturated fatty acids.", "Tafazzin (EC 2.3.1.23) is a Phospholipid Transacylase involved in Cardiolipin remodeling on mitochondrial membrane and coded by TAZ gene (Cytogenetic Location: Xq28) in human.", "Tafazzin is a transacylase that affects cardiolipin fatty acid composition and mitochondrial function. ", "Tafazzin is a mitochondrial phospholipid transacylase, and its mutations cause Barth syndrome (BTHS). ", "Tafazzin (TAZ) is a phospholipid transacylase that catalyzes the remodeling of cardiolipin, a mitochondrial phospholipid required for oxidative phosphorylation. ", "Tafazzin expression induced a new enzymatic function in Sf9 cell mitochondria, namely 1-palmitoyl-2-[14C]linoleoyl-phosphatidylcholine:monolysocardiolipin linoleoyltransferase.", "Among the human isoforms, only full-length tafazzin (FL) and tafazzin lacking exon 5 (Delta5) had transacylase activity, and only these two isoforms were able to restore a normal cardiolipin pattern, normal respiratory activity of mitochondria, and male fertility in tafazzin-deficient flies.", "Tafazzin is a mitochondrial transacylase required for cardiolipin remodeling.", "Tafazzin is a putative enzyme that is involved in cardiolipin metabolism, it may carry mutations responsible for Barth syndrome.", "Tafazzin is an enzyme that remodels saturated fatty acyl chains within CL to unsaturated fatty acyl chains, loss of function mutations in the TAZ gene encoding tafazzin are causal for the inherited cardiomyopathy Barth syndrome", "The tafazzin gene encodes a phospholipid-lysophospholipid transacylase involved in cardiolipin metabolism, but it is not known why it forms multiple transcripts as a result of alternative splicing.", "Furthermore, the data show that the expression of human tafazzin in flies creates cardiolipin with a Drosophila pattern, suggesting that the characteristic fatty acid profile of cardiolipin is not determined by the substrate specificity of tafazzin.", "Tafazzin is a transacylase that affects cardiolipin fatty acid composition and mitochondrial function." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24318983", "http://www.ncbi.nlm.nih.gov/pubmed/25598000", "http://www.ncbi.nlm.nih.gov/pubmed/25118650", "http://www.ncbi.nlm.nih.gov/pubmed/26415690", "http://www.ncbi.nlm.nih.gov/pubmed/21068380", "http://www.ncbi.nlm.nih.gov/pubmed/25941633", "http://www.ncbi.nlm.nih.gov/pubmed/24714493", "http://www.ncbi.nlm.nih.gov/pubmed/24858921", "http://www.ncbi.nlm.nih.gov/pubmed/25688091", "http://www.ncbi.nlm.nih.gov/pubmed/19700766", "http://www.ncbi.nlm.nih.gov/pubmed/25919711", "http://www.ncbi.nlm.nih.gov/pubmed/16794186", "http://www.ncbi.nlm.nih.gov/pubmed/25247053", "http://www.ncbi.nlm.nih.gov/pubmed/17082194" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0031843", "o": "function" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0031843", "o": "http://linkedlifedata.com/resource/umls/label/A3879881" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A3879881", "o": "function" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C1336578", "o": "http://linkedlifedata.com/resource/umls/label/A12030635" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A12030635", "o": "TAFAZZIN" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C1336578", "o": "TAZ" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011506", "http://www.disease-ontology.org/api/metadata/DOID:0050476", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056889" ]

[ "The family Reduviidae (Hemiptera: Heteroptera), or assassin bugs, is among the most diverse families of the true bugs, with more than 6,000 species." ]

[]

[ "The complete mitochondrial genome of an assassin bug Peirates arcuatus (Hemiptera: Reduviidae).", "First complete mitochondrial genome sequence from the tribelocephaline assassin bugs (Hemiptera: Reduviidae).", "The complete mitochondrial genome (mitogenome) of Opistoplatys sp. was determined, which was the first representation from the assassin bug subfamily Tribelocephalinae. ", "The family Reduviidae (Hemiptera: Heteroptera), or assassin bugs, is among the most diverse families of the true bugs, with more than 6,000 species.", "Comparative mitogenomics of the assassin bug genus Peirates (Hemiptera: Reduviidae: Peiratinae) " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25996956", "http://www.ncbi.nlm.nih.gov/pubmed/24438295", "http://www.ncbi.nlm.nih.gov/pubmed/25689825", "http://www.ncbi.nlm.nih.gov/pubmed/26249492", "http://www.ncbi.nlm.nih.gov/pubmed/27058599", "http://www.ncbi.nlm.nih.gov/pubmed/24884699" ]

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[ "These clusters are unlikely to have arisen by horizontal gene transfer, and the mechanisms behind their formation are poorly understood. Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation.", "Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation. ", "Genes for marneral synthesis are organized in an operon-like gene cluster in thale cress (A. thaliana)." ]

[ "no" ]

[ "Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation", "Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation.", "Previously in thale cress (Arabidopsis thaliana) we identified an operon-like gene cluster that is required for the synthesis and modification of the triterpene thalianol.", "Prediction of operon-like gene clusters in the Arabidopsis thaliana genome based on co-expression analysis of neighboring genes", "Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation. ", "Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A.", "the cyclic hydroxamic acid pathways in maize, the avenacin biosynthesis gene clusters in oat, the thalianol pathway in Arabidopsis thaliana, and the diterpenoid momilactone cluster in rice.", "Prediction of operon-like gene clusters in the Arabidopsis thaliana genome based on co-expression analysis of neighboring genes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21876149" ]

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[]

[ "Yes, patients treated with dupilumab had marked and rapid improvement in all the evaluated measures of atopic dermatitis disease activity." ]

[ "yes" ]

[ "Dupilumab has demonstrated efficacy in patients with asthma and atopic dermatitis, which are both type 2 helper T-cell-mediated diseases.", "Background 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.", "Two Phase 3 Trials of Dupilumab versus Placebo in Atopic Dermatitis.", "Dupilumab is a biologic agent targeted at TH2 cytokines, but indirectly impacts IgE and is an important biologic agent for atopic disease.", "Dupilumab for the treatment of atopic dermatitis: A clinical trial review.", "Dupilumab is a novel monoclonal antibody that was recently studied in adult patients with moderate-to-severe AD.", "Patients treated with dupilumab had marked and rapid improvement in all the evaluated measures of atopic dermatitis disease activity.", "The robust effects of dupilumab on skin inflammation and pruritus confirm the pathogenic role of IL-4 and IL-13 signaling in adult AD, and further support the application of Th2 cytokine antagonists in the treatment of this disease." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27334730", "http://www.ncbi.nlm.nih.gov/pubmed/27690741", "http://www.ncbi.nlm.nih.gov/pubmed/26428945", "http://www.ncbi.nlm.nih.gov/pubmed/25006719", "http://www.ncbi.nlm.nih.gov/pubmed/26836729", "http://www.ncbi.nlm.nih.gov/pubmed/27497276", "http://www.ncbi.nlm.nih.gov/pubmed/26598956", "http://www.ncbi.nlm.nih.gov/pubmed/27906698" ]

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[ "Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei.", "Base J (-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei. J is enriched at sites involved in RNA polymerase (RNAP) II initiation and termination. ", "Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei.", "Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops.", "j (β-d-glucosyl-hydroxymethyluracil) replaces 1% of t in the leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. . j is found predominantly in repetitive dna and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in trypanosoma brucei. . ", "base j (β-d-glucosyl-hydroxymethyluracil) replaces 1% of t in the leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops." ]

[ "telomeric repeats" ]

[ "Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops.", "Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei.", "J is enriched at sites involved in RNA polymerase (RNAP) II initiation and termination.", "Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops", "Telomeric localization of the modified DNA base J in the genome of the protozoan parasite Leishmania", "Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei. ", "Base J is a hypermodified DNA base localized primarily to telomeric regions of the genome of Trypanosoma brucei." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25662217", "http://www.ncbi.nlm.nih.gov/pubmed/17329373", "http://www.ncbi.nlm.nih.gov/pubmed/19114062", "http://www.ncbi.nlm.nih.gov/pubmed/10562569", "http://www.ncbi.nlm.nih.gov/pubmed/25104019", "http://www.ncbi.nlm.nih.gov/pubmed/20215442" ]

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[ "CisMapper predicts the regulatory targets of a TF using the correlation between a histone mark at the TF's bound sites and the expression of each gene across a panel of tissues. CisMapper is more accurate at predicting the target genes of a TF than the distance-based approaches currently used, and is particularly advantageous for predicting the long-range regulatory interactions typical of tissue-specific gene expression. CisMapper also predicts which TF binding sites regulate a given gene more accurately than using genomic distance. Unlike distance-based methods, CisMapper can predict which transcription start site of a gene is regulated by a particular binding site of the TF." ]

[ "CisMapper" ]

[ "CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data", "We present CisMapper, which predicts the regulatory targets of a TF using the correlation between a histone mark at the TF's bound sites and the expression of each gene across a panel of tissues.", "Using both chromatin conformation capture and differential expression data, we show that CisMapper is more accurate at predicting the target genes of a TF than the distance-based approaches currently used, and is particularly advantageous for predicting the long-range regulatory interactions typical of tissue-specific gene expression", " CisMapper also predicts which TF binding sites regulate a given gene more accurately than using genomic distance. Unlike distance-based methods, CisMapper can predict which transcription start site of a gene is regulated by a particular binding site of the TF", "CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data.", "CisMapper: predicting regulatory interactions from transcription factor ChIP-seq data.", "Using both chromatin conformation capture and differential expression data, we show that CisMapper is more accurate at predicting the target genes of a TF than the distance-based approaches currently used, and is particularly advantageous for predicting the long-range regulatory interactions typical of tissue-specific gene expression." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27924029" ]

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[ "Unipolar brush cells (UBCs) are glutamatergic interneurons localized in granule cell regions of the cochlear nucleus and the vestibulocerebellum of cerebellum." ]

[]

[ "Cerebellar unipolar brush cells (UBCs) are glutamatergic interneurons that receive direct input from vestibular afferents in the form of a unique excitatory synapse on their dendritic brush. ", "Immunostained unipolar brush cells were observed in granule cell regions of the cochlear nucleus and the vestibulocerebellum.", "Postsynaptic enrichment of Eps8 at dendritic shaft synapses of unipolar brush cells in rat cerebellum.", "In cerebellum, unipolar brush cells (UBCs) were densely Eps8 immunopositive and granule cells were moderately immunostained. ", "Postnatal differentiation of unipolar brush cells and mossy fiber-unipolar brush cell synapses in rat cerebellum.", "Knowledge of the ultrastructure of the unipolar brush cell terminals and of the cellular identity of its postsynaptic targets is required to understand how unipolar brush cells contribute to information processing in the cerebellar circuit.", "To investigate the unipolar brush cell axon and its targets, unipolar brush cells were patch-clamped in fresh parasagittal slices from rat cerebellar vermis with electrodes filled with Lucifer Yellow and Biocytin, and examined by confocal fluorescence and electron microscopy.", "Calretinin-immunoreactive unipolar brush cells in the developing human cerebellum.", "Unipolar brush cell: a potential feedforward excitatory interneuron of the cerebellum.", "Unipolar brush cells are also found in the cochlear nucleus.", "The unipolar brush cells reside nearly exclusively in the granular layer.", "In the monkey cerebellum, unipolar brush cells, localized in the granular layer, were heavily labeled, whereas Golgi cells were devoid of NG", "Unipolar brush cells (UBC) are small, glutamatergic neurons residing in the granular layer of the cerebellar cortex and the granule cell domain of the cochlear nuclear complex", "Knowledge of the ultrastructure of the unipolar brush cell terminals and of the cellular identity of its postsynaptic targets is required to understand how unipolar brush cells contribute to information processing in the cerebellar circuit", "To investigate the unipolar brush cell axon and its targets, unipolar brush cells were patch-clamped in fresh parasagittal slices from rat cerebellar vermis with electrodes filled with Lucifer Yellow and Biocytin, and examined by confocal fluorescence and electron microscopy", "While granule cells express solely VGLUT1, there is no report about the VGLUT(s) of the unipolar brush cell (UBC), the second type of glutamatergic interneuron residing in the cerebellar granular layer", "Large clusters of labeled nuclei consisting mainly of granule cells and calretinin-positive unipolar brush cells were present in the granular layer, whereas Purkinje cell nuclei were unlabeled, and labeled basket and stellate cell nuclei were scattered in the molecular layer", "Unipolar brush cells (UBCs) are a class of excitatory interneuron found in the granule cell layer of the vestibulocerebellum", "TBR2-immunopsitive unipolar brush cells are associated with ectopic zebrin II-immunoreactive Purkinje cell clusters in the cerebellum of scrambler mice", "Glutamate receptor subunits at mossy fiber-unipolar brush cell synapses: light and electron microscopic immunocytochemical study in cerebellar cortex of rat and cat.", "Properties of transmission at a giant glutamatergic synapse in cerebellum: the mossy fiber-unipolar brush cell synapse.", "Metabotropic glutamate receptors are associated with non-synaptic appendages of unipolar brush cells in rat cerebellar cortex and cochlear nuclear complex.", "The unipolar brush cells of the rat cerebellar cortex and cochlear nucleus are calretinin-positive: a study by light and electron microscopic immunocytochemistry.", "Cerebellar choline acetyltransferase positive mossy fibres and their granule and unipolar brush cell targets: a model for central cholinergic nicotinic neurotransmission.", "In cerebellum, unipolar brush cells (UBCs) were densely Eps8 immunopositive and granule cells were moderately immunostained.", "In the monkey cerebellum, unipolar brush cells, localized in the granular layer, were heavily labeled, whereas Golgi cells were devoid of NG.", "The results indicate that synaptic excitation of unipolar brush cells by mossy fibers will drive a large population of granule cells, and thus will contribute a powerful form of distributed excitation within the basic circuit of the cerebellar cortex.", "These neurons, here termed unipolar brush cells, are intermediate in size between granule cells and Golgi cells.", "Extraordinary synapses of the unipolar brush cell: an electron microscopic study in the rat cerebellum.", "Knowledge of the ultrastructure of the unipolar brush cell terminals and of the cellular identity of its postsynaptic targets is required to understand how unipolar brush cells contribute to information processing in the cerebellar circuit.", "The unipolar brush cell: a neglected neuron of the mammalian cerebellar cortex.", "Postnatal differentiation of unipolar brush cells and mossy fiber-unipolar brush cell synapses in rat cerebellum.", "To investigate the unipolar brush cell axon and its targets, unipolar brush cells were patch-clamped in fresh parasagittal slices from rat cerebellar vermis with electrodes filled with Lucifer Yellow and Biocytin, and examined by confocal fluorescence and electron microscopy." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7978355", "http://www.ncbi.nlm.nih.gov/pubmed/11457596", "http://www.ncbi.nlm.nih.gov/pubmed/8177517", "http://www.ncbi.nlm.nih.gov/pubmed/9923978", "http://www.ncbi.nlm.nih.gov/pubmed/14614902", "http://www.ncbi.nlm.nih.gov/pubmed/8059339", "http://www.ncbi.nlm.nih.gov/pubmed/19409228", "http://www.ncbi.nlm.nih.gov/pubmed/10891606", "http://www.ncbi.nlm.nih.gov/pubmed/9193142", "http://www.ncbi.nlm.nih.gov/pubmed/11396855", "http://www.ncbi.nlm.nih.gov/pubmed/11044898", "http://www.ncbi.nlm.nih.gov/pubmed/12655510", "http://www.ncbi.nlm.nih.gov/pubmed/17223277", "http://www.ncbi.nlm.nih.gov/pubmed/8300904", "http://www.ncbi.nlm.nih.gov/pubmed/16289944", "http://www.ncbi.nlm.nih.gov/pubmed/16344141", "http://www.ncbi.nlm.nih.gov/pubmed/8821458", "http://www.ncbi.nlm.nih.gov/pubmed/17409247", "http://www.ncbi.nlm.nih.gov/pubmed/7673463", "http://www.ncbi.nlm.nih.gov/pubmed/9023728", "http://www.ncbi.nlm.nih.gov/pubmed/15940501", "http://www.ncbi.nlm.nih.gov/pubmed/12814190", "http://www.ncbi.nlm.nih.gov/pubmed/20937306", "http://www.ncbi.nlm.nih.gov/pubmed/7472327", "http://www.ncbi.nlm.nih.gov/pubmed/21190007" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002477" ]

[ "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs", "found conservation of heterozygous k27m mutations in h3f3a (n = 4) or hist1h3b (n = 3) across all primary , contiguous , and metastatic tumor sites in all dipgs . h3k27m ubiquitously-associated mutations involve alterations in tp53 cell-cycle (tp53/ppm1d) or specific growth factor pathways (acvr1/pik3r1) . reconstruction indicates histone 3 (h3) k27m--including h3.2k27m--mutations potentially arise first and are invariably associated with specific , high-fidelity obligate partners throughout the tumour and its spread , from diagnosis to end-stage disease , suggesting mutual need for tumorigenesis. . aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. . ", "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1).", "We found conservation of heterozygous K27M mutations in H3F3A (n=4) or HIST1H3B (n=3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. ACVR1 (n=2), PIK3CA (n=2), FGFR1 (n=2), and MET (n=1) were also intra-tumorally conserved. TP53 aberrations (n=3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). ", "Recurrent mutations within the histone H3 genes H3F3A and HIST1H3B that convert K27 to methionine (H3K27M) and disrupt the global H3K27 methylation landscape and PRC2-dependent silencing, have recently been identified in pediatric high-grade gliomas including Diffuse Intrinsic Pontine Glioma (DIPG) and Glioblastoma multiforme (GBM; Type IV glioma). The spatial and temporal homogeneity of main driver mutations in DIPG implies they will be captured by limited biopsies and emphasizes the need to develop therapies specifically targeting obligate oncohistone partnerships. TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.Spatial conservation of prognostically-relevant and therapeutically-targetable somatic mutations in DIPG and mHGG contrasts the significant heterogeneity of driver mutations seen in adult HGG and supports uniform implementation of diagnostic biopsy in DIPG and mHGG to classify molecular risk groups and guide therapeutic strategy. Recently, a subset of these same mutations of ACVR1 have been identified in diffuse intrinsic pontine glioma (DIPG) tumors. Sequencing analysis showed c.83A>T mutations in the H3F3A or HIST1H3B gene in 77 % of our DIPG cohort. Protein profiling identified 2,305 unique proteins indicating distinct DIPG protein expression patterns compared to other pediatric brain tumors. Two distinct subgroups of DIPG were identified.", "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.", "Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. Conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) was observed across all primary, contiguous, and metastatic tumor sites in all DIPGs. ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved. TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.", "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1).", "We found conservation of heterozygous K27M mutations in H3F3A (n=4) or HIST1H3B (n=3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). TP53 aberrations (n=3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. ACVR1 (n=2), PIK3CA (n=2), FGFR1 (n=2), and MET (n=1) were also intra-tumorally conserved. ", "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). " ]

[ "K27M in H3F3A", "HIST1H3B" ]

[ "We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs", "ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved", " TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.", "Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis.", "These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). ", "Recently, sequencing of tumor cells revealed that histone H3 is frequently mutated in pediatric HGG, with up to 78 % of diffuse intrinsic pontine gliomas (DIPGs) carrying K27M and 36 % of non-brainstem gliomas carrying either K27M or G34R/V mutations.", "Moreover, in diffuse intrinsic pontine gliomas (DIPG), recurrent somatic mutations of ACVR1 were found in association with HIST1H3B mutations", "Recently, sequencing of tumor cells revealed that histone H3 is frequently mutated in pediatric HGG, with up to 78 % of diffuse intrinsic pontine gliomas (DIPGs) carrying K27M and 36 % of non-brainstem gliomas carrying either K27M or G34R/V mutations", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.", "Recurrent mutations within the histone H3 genes H3F3A and HIST1H3B that convert K27 to methionine (H3K27M) and disrupt the global H3K27 methylation landscape and PRC2-dependent silencing, have recently been identified in pediatric high-grade gliomas including Diffuse Intrinsic Pontine Glioma (DIPG) and Glioblastoma multiforme (GBM; Type IV glioma).", "Sequencing analysis showed c.83A>T mutations in the H3F3A or HIST1H3B gene in 77 % of our DIPG cohort.", "Recently, sequencing of tumor cells revealed that histone H3 is frequently mutated in pediatric HGG, with up to 78 % of diffuse intrinsic pontine gliomas (DIPGs) carrying K27M and 36 % of non-brainstem gliomas carrying either K27M or G34R/V mutations.", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26727948", "http://www.ncbi.nlm.nih.gov/pubmed/27048880", "http://www.ncbi.nlm.nih.gov/pubmed/22661320", "http://www.ncbi.nlm.nih.gov/pubmed/25182241", "http://www.ncbi.nlm.nih.gov/pubmed/27251074", "http://www.ncbi.nlm.nih.gov/pubmed/24297113", "http://www.ncbi.nlm.nih.gov/pubmed/25773741" ]

[]

[]

[ "Yes. Jarid2 coordinates Nanog expression and PCP/Wnt signaling required for efficient ESC differentiation and early embryo development." ]

[ "yes" ]

[ "Jarid2 Coordinates Nanog Expression and PCP/Wnt Signaling Required for Efficient ESC Differentiation and Early Embryo Development", "Unlike other PRC2-deficient embryonic stem cells (ESCs), however, Jarid2-deficient ESCs show a severe differentiation block, altered colony morphology, and distinctive patterns of deregulated gene expression. Here, we show that Jarid2(-/-) ESCs express constitutively high levels of Nanog but reduced PCP signaling components Wnt9a, Prickle1, and Fzd2 and lowered β-catenin activity. Depletion of Wnt9a/Prickle1/Fzd2 from wild-type ESCs or overexpression of Nanog largely phenocopies these cellular defects. Co-culture of Jarid2(-/-) with wild-type ESCs restores variable Nanog expression and β-catenin activity and can partially rescue the differentiation block of mutant cells. In addition, we show that ESCs lacking Jarid2 or Wnt9a/Prickle1/Fzd2 or overexpressing Nanog induce multiple ICM formation when injected into normal E3.5 blastocysts. These data describe a previously unrecognized role for Jarid2 in regulating a core pluripotency and Wnt/PCP signaling circuit that is important for ESC differentiation and for pre-implantation development.", "Jarid2 Coordinates Nanog Expression and PCP/Wnt Signaling Required for Efficient ESC Differentiation and Early Embryo Development.", "Consistent with an essential role for PcG proteins in early development, we demonstrate that JARID2 is required for the differentiation of mouse embryonic stem cells.", "Jumonij (JMJ)/Jarid2 plays important roles in embryonic development and functions as a transcriptional repressor.", "Thus, these results demonstrate that JARID2 is essential for the binding of PcG proteins to target genes and, consistent with this, for the proper differentiation of embryonic stem cells and normal development.", "JARID2 is an accessory component of Polycomb repressive complex-2 (PRC2) required for the differentiation of embryonic stem cells (ESCs).", "Jarid2 Coordinates Nanog Expression and PCP/Wnt Signaling Required for Efficient ESC Differentiation and Early Embryo Development.", "These data describe a previously unrecognized role for Jarid2 in regulating a core pluripotency and Wnt/PCP signaling circuit that is important for ESC differentiation and for pre-implantation development.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20075857", "http://www.ncbi.nlm.nih.gov/pubmed/26190104", "http://www.ncbi.nlm.nih.gov/pubmed/17521633", "http://www.ncbi.nlm.nih.gov/pubmed/24374312" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0009790", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D047108", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005314", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D063146" ]

[ "Yes, PUVA (psoralen plus UVA) therapy is effective for eczema treatment and has relatively few side effects." ]

[ "yes" ]

[ "With bath PUVA treatment, the best results were found in patients with hyperkeratotic eczema (17/22; 77% good clinical response) followed by patients with palmoplantar psoriasis (26/41; 63%) and patients with dyshidrotic eczema (8/16; 50%). ", "Oral vs. bath PUVA using 8-methoxypsoralen for chronic palmoplantar eczema.", "Both oral and bath PUVA with 8-methoxypsoralen (8-MOP) have been shown to be effective in the treatment of chronic palmoplantar eczema. ", "Oral PUVA is preferable for patients with hyperkeratotic eczema and bath PUVA for patients with dyshidrotic eczema.", "Treatment of hand eczema is dominated by the administration of topical glucocorticosteriods. If topical treatment fails, the best second-line option is ultraviolet (UV) therapy alone or as combination therapy. UVB and PUVA (psoralen plus UVA) therapy is effective and has relatively few side effects. ", "Although local PUVA has been proven to be effective in the treatment of chronic hand eczema, little is known about the efficacy and safety of local narrowband UVB (TL-01) for this condition.", "Local narrowband UVB phototherapy regimen is as effective as paint-PUVA therapy in patients with chronic hand eczema of dry and dyshidrotic types.", "Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved.", "Treatment of chronic palmoplantar eczema with local bath-PUVA therapy.", "Bath-PUVA therapy has been described as successful treatment for palmoplantar eczema.", "Systemic PUVA therapy may be useful in the treatment of chronic palmoplantar eczema.", "A new psoralen-containing gel for topical PUVA therapy: development, and treatment results in patients with palmoplantar and plaque-type psoriasis, and hyperkeratotic eczema.", "These results indicate that topical PUVA therapy with psoralen in aqueous gel is a useful therapeutic modality for treatment of psoriasis patients, and patients with recalcitrant dermatoses such as palmoplantar psoriasis and hyperkeratotic eczema.", "In order to evaluate environmental influences possibly having an impact on the efficacy of this therapy, smokers and non-smokers suffering from palmoplantar eczema treated with bath-PUVA therapy were compared.", "Does smoking influence the efficacy of bath-PUVA therapy in chronic palmoplantar eczema?", "PUVA therapy caused acute aggravation of the eczema.", "Hyperkeratotic eczema cleared significantly better with oral than with bath PUVA (P=0.03).CONCLUSION: Oral PUVA is preferable for patients with hyperkeratotic eczema and bath PUVA for patients with dyshidrotic eczema.", "BACKGROUND: Systemic PUVA therapy may be useful in the treatment of chronic palmoplantar eczema.", "These results indicate that topical PUVA therapy with psoralen in aqueous gel is a useful therapeutic modality for treatment of psoriasis patients, and patients with recalcitrant dermatoses such as palmoplantar psoriasis and hyperkeratotic eczema.", "Vitiligo (60.9%) was the commonest skin disorder treated with PUVA, followed by psoriasis (20.9%), endogenous eczema (11.3%), mycosis fungoides (3.5%), lichen amyloidosis (2.6%) and prurigo nodularis (0.9%).", "bath PUVA using 8-methoxypsoralen for chronic palmoplantar eczema.", "A 36-year-old female patient was treated with PUVA for dyshidrotic eczema that had not shown sufficient response to topical therapy over the previous months.", "BACKGROUND: Both oral and bath PUVA with 8-methoxypsoralen (8-MOP) have been shown to be effective in the treatment of chronic palmoplantar eczema.", "One patient with hand eczema consistently had detectable 8-MOP levels 1 hour after topical PUVA treatments.CONCLUSION: This report indicates that there is minimal, if any, systemic absorption of 8-MOP after topical PUVA treatment of patients with palmoplantar psoriasis.", "In the narrowband UVB-treated side, the tolerance of all the patients to the treatment was good all patients well-tolerated the treatment with the exception of mild xerosis that responded to topical emollients.Local narrowband UVB phototherapy regimen is as effective as paint-PUVA therapy in patients with chronic hand eczema of dry and dyshidrotic types", "Bath-PUVA therapy has been described as successful treatment for palmoplantar eczema", "Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved", "Systemic PUVA therapy may be useful in the treatment of chronic palmoplantar eczema", "However, few data are available on the effectiveness of local bath-PUVA therapy in palmoplantar eczema.Our purpose was to assess the effectiveness of local bath-PUVA therapy in 28 patients with chronic palmar or plantar eczema or both who were resistant to conventional topical treatment.After fungal or bacterial infection had been excluded in all patients, hands or feet or both were soaked for 15 minutes in warm water containing 1 mg/L 8-methoxypsoralen", "No phototoxic reactions were observed.Local bath-PUVA therapy is of value in the management of chronic palmoplantar eczema resistant to standard modes of topical treatment", "Treatment of chronic palmoplantar eczema with local bath-PUVA therapy", "Bath-PUVA therapy has been described as successful treatment for palmoplantar eczema. ", "Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved.", "OBJECTIVE: Our purpose was to assess the effectiveness of local bath-PUVA therapy in 28 patients with chronic palmar or plantar eczema or both who were resistant to conventional topical treatment. ", "CONCLUSION: Local bath-PUVA therapy is of value in the management of chronic palmoplantar eczema resistant to standard modes of topical treatment. ", "Topical PUVA therapy for chronic hand eczema.", "However, few data are available on the effectiveness of local bath-PUVA therapy in palmoplantar eczema.Our purpose was to assess the effectiveness of local bath-PUVA therapy in 28 patients with chronic palmar or plantar eczema or both who were resistant to conventional topical treatment.After fungal or bacterial infection had been excluded in all patients, hands or feet or both were soaked for 15 minutes in warm water containing 1 mg/L 8-methoxypsoralen.", "No phototoxic reactions were observed.Local bath-PUVA therapy is of value in the management of chronic palmoplantar eczema resistant to standard modes of topical treatment.", "Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved.", "However, our own observations showed that patients with palmoplantar eczema of the dyshidrotic or hyperkeratotic type responded only partially to bath-PUVA therapy.", "In the narrowband UVB-treated side, the tolerance of all the patients to the treatment was good all patients well-tolerated the treatment with the exception of mild xerosis that responded to topical emollients.Local narrowband UVB phototherapy regimen is as effective as paint-PUVA therapy in patients with chronic hand eczema of dry and dyshidrotic types.", "Comparison of localized high-dose UVA1 irradiation versus topical cream psoralen-UVA for treatment of chronic vesicular dyshidrotic eczema.", "No phototoxic reactions were observed.CONCLUSION: Local bath-PUVA therapy is of value in the management of chronic palmoplantar eczema resistant to standard modes of topical treatment.", "These results indicate that topical PUVA therapy with psoralen in aqueous gel is a useful therapeutic modality for treatment of psoriasis patients, and patients with recalcitrant dermatoses such as palmoplantar psoriasis and hyperkeratotic eczema..", "Treatment of chronic palmoplantar eczema with local bath-PUVA therapy.", "Oral PUVA is preferable for patients with hyperkeratotic eczema and bath PUVA for patients with dyshidrotic eczema..", "Does smoking influence the efficacy of bath-PUVA therapy in chronic palmoplantar eczema?", "Local bath-PUVA therapy is of value in the management of chronic palmoplantar eczema resistant to standard modes of topical treatment.", "However, few data are available on the effectiveness of local bath-PUVA therapy in palmoplantar eczema.", "A new psoralen-containing gel for topical PUVA therapy: development, and treatment results in patients with palmoplantar and plaque-type psoriasis, and hyperkeratotic eczema.", "Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved..", "In order to investigate the effectiveness of topical PUVA-bath therapy (PUVA-soak therapy) on chronic palmoplantar dermatoses, 30 patients with plaque-type psoriasis, pustular psoriasis, endogenous eczema, dyshidrotic eczema and hyperkeratotic dermatitis of the palms and soles were treated over 8 weeks with PUVA-soak using 8-MOP.", "Our purpose was to assess the effectiveness of local bath-PUVA therapy in 28 patients with chronic palmar or plantar eczema or both who were resistant to conventional topical treatment." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/3903677", "http://www.ncbi.nlm.nih.gov/pubmed/23420314", "http://www.ncbi.nlm.nih.gov/pubmed/14699368", "http://www.ncbi.nlm.nih.gov/pubmed/17254029", "http://www.ncbi.nlm.nih.gov/pubmed/708596", "http://www.ncbi.nlm.nih.gov/pubmed/10321515", "http://www.ncbi.nlm.nih.gov/pubmed/19292787", "http://www.ncbi.nlm.nih.gov/pubmed/9640882", "http://www.ncbi.nlm.nih.gov/pubmed/18712324", "http://www.ncbi.nlm.nih.gov/pubmed/15611423", "http://www.ncbi.nlm.nih.gov/pubmed/7662576", "http://www.ncbi.nlm.nih.gov/pubmed/17673386", "http://www.ncbi.nlm.nih.gov/pubmed/9146535", "http://www.ncbi.nlm.nih.gov/pubmed/10721861", "http://www.ncbi.nlm.nih.gov/pubmed/8088142", "http://www.ncbi.nlm.nih.gov/pubmed/22738245", "http://www.ncbi.nlm.nih.gov/pubmed/11499537", "http://www.ncbi.nlm.nih.gov/pubmed/8445063" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004485", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011701" ]

[ "DECKO (Double Excision CRISPR Knockout) is a dual CRISPR tool, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs." ]

[]

[ "DECKO: Single-oligo, dual-CRISPR deletion of genomic elements including long non-coding RNAs", "We present a dual CRISPR tool, DECKO, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs.", " We present a vector system adapted for this purpose called DECKO (Double Excision CRISPR Knockout), which applies a simple two-step cloning to generate lentiviral vectors expressing two guide RNAs (gRNAs) simultaneously. The key feature of DECKO is its use of a single 165 bp starting oligonucleotide carrying the variable sequences of both gRNAs, making it fully scalable from single-locus studies to complex library cloning.", "DECKO: Single-oligo, dual-CRISPR deletion of genomic elements including long non-coding RNAs.", "We present a vector system adapted for this purpose called DECKO (Double Excision CRISPR Knockout), which applies a simple two-step cloning to generate lentiviral vectors expressing two guide RNAs (gRNAs) simultaneously.", "The key feature of DECKO is its use of a single 165 bp starting oligonucleotide carrying the variable sequences of both gRNAs, making it fully scalable from single-locus studies to complex library cloning.", "We present a vector system adapted for this purpose called DECKO (Double Excision CRISPR Knockout), which applies a simple two-step cloning to generate lentiviral vectors expressing two guide RNAs (gRNAs) simultaneously", "The key feature of DECKO is its use of a single 165 bp starting oligonucleotide carrying the variable sequences of both gRNAs, making it fully scalable from single-locus studies to complex library cloning.We apply DECKO to deleting the promoters of one protein-coding gene and two oncogenic lncRNAs, UCA1 and the highly-expressed MALAT1, focus of many previous studies employing RNA interference approaches", "These clones have reductions in steady-state MALAT1 RNA levels of up to 98 % and display reduced proliferation rates.We present a dual CRISPR tool, DECKO, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs", "We present a vector system adapted for this purpose called DECKO (Double Excision CRISPR Knockout), which applies a simple two-step cloning to generate lentiviral vectors expressing two guide RNAs (gRNAs) simultaneously.", "The key feature of DECKO is its use of a single 165 bp starting oligonucleotide carrying the variable sequences of both gRNAs, making it fully scalable from single-locus studies to complex library cloning.We apply DECKO to deleting the promoters of one protein-coding gene and two oncogenic lncRNAs, UCA1 and the highly-expressed MALAT1, focus of many previous studies employing RNA interference approaches.", "These clones have reductions in steady-state MALAT1 RNA levels of up to 98 % and display reduced proliferation rates.We present a dual CRISPR tool, DECKO, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs.", "DECKO: Single-oligo, dual-CRISPR deletion of genomic elements including long non-coding RNAs.", "We present a dual CRISPR tool, DECKO, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26493208" ]

[]

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

[ "PCSK9\nAPOB \nANGPTL3\nANGPTL4\nMTP" ]

[ "PCSK9", "APOB", "ANGPTL3", "ANGPTL4", "MTP" ]

[ " Conversely familial hypobetalipoproteinemia is caused by inactivation of the PCSK9 gene which increases the number of LDL receptors and decreases plasma cholesterol.", "Mutations in the genes APOB, and ANGPTL3 and ANGPTL4 (that encode angiopoietin-like proteins which inhibit lipoprotein lipase activity) can further cause low levels of apoB containing lipoproteins", "Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia. Mutations in the ANGPTL3 gene cause familial combined hypolipidemia. ", "Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. ", "These results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent.", "Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3, loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies.", "Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia characterized by a reduction of apolipoprotein B and apolipoprotein A-I-containing lipoproteins, changes in subclasses of high-density lipoprotein, and reduced cholesterol efflux potential of serum." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22247256", "http://www.ncbi.nlm.nih.gov/pubmed/26546829", "http://www.ncbi.nlm.nih.gov/pubmed/24751931", "http://www.ncbi.nlm.nih.gov/pubmed/22062970" ]

[]

[]

[ "the mitochondrial protease presenilin-associated rhomboid-like (PARL). Rhomboids are a recently discovered family of widely distributed intramembrane serine proteases." ]

[ "PARL are serine proteases" ]

[ "Here we demonstrate that the mitochondrial protease presenilin-associated rhomboid-like (PARL) can affect the proteolytic processing of PINK1 and that normal PINK1 localization and stability requires PARL's catalytic activity. ", "The mitochondrial rhomboid protease Parl governs apoptosis, morphology, metabolism and might be implicated in Parkinson's disease, but the structural basis of its activity and complex regulation remain unknown.", ". In this study, we evaluated the mRNA levels of presenilins-associated rhomboid-like protein (PARL) and mitochondrial content and enzyme activity from skeletal muscle isolated from insulin-resistant rats.", "Rhomboids are a recently discovered family of widely distributed intramembrane serine proteases. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17938163", "http://www.ncbi.nlm.nih.gov/pubmed/21415861", "http://www.ncbi.nlm.nih.gov/pubmed/21355049", "http://www.ncbi.nlm.nih.gov/pubmed/19859837" ]

[]

[]

[ "Yes, brown fat cells produce heat." ]

[ "yes" ]

[ "WAT and BAT are both involved in energy balance. WAT is mainly involved in the storage and mobilization of energy in the form of triglycerides, whereas BAT specializes in dissipating energy as heat during cold- or diet-induced thermogenesis.", "Because brown adipose tissue (BAT) dissipates energy in the form of heat, increasing energy expenditure by augmenting BAT-mediated thermogenesis may represent an approach to counter obesity and its complications.", "Classic brown fat and inducible beige fat both dissipate chemical energy in the form of heat through the actions of mitochondrial uncoupling protein 1. This nonshivering thermogenesis is crucial for mammals as a defense against cold and obesity/diabetes.", "Mitochondrial uncoupling protein 1 in brown fat cells produces heat by dissipating the energy generated by fatty acid and glucose oxidation.", "Brown fat biology and thermogenesis.", "Brown fat (brown adipose tissue, BAT) primary function is to produce heat. ", "Brown fat cells were classified into 6 types: Type 1 cells are fat-depleted cells filled with granular cytoplasm and are believed to be produced after oxidation of fat for heat production.", "Calorimetric measurements from cell suspensions showed that ATP increased basal heat production of isolated brown fat cells by approximately 40% but had no effect on the greater than fivefold increase in heat production seen with maximal adrenergic stimulation.", "Classic brown fat and inducible beige fat both dissipate chemical energy in the form of heat through the actions of mitochondrial uncoupling protein 1.", "Brown adipocytes oxidize fatty acids to produce heat in response to cold or to excessive energy intake; stimulation of brown fat development and function may thus counteract obesity.", "The occurrence of Types 1 and/or 6 cells that has been revealed in 65 out of the total 180 samples (36%), suggests that the oxidation of fat for the thermogenesis proceeds in the brown fat tissue and that brown fat cells partially undergo fat depletion.", "Brown fat cells were classified into 6 types: Type 1 cells are fat-depleted cells filled with granular cytoplasm and are believed to be produced after oxidation of fat for heat production.", "In response to cold, both classical brown fat and the newly identified \"beige\" or \"brite\" cells are activated by β-adrenergic signaling and catabolize stored lipids and carbohydrates to produce heat via UCP1", "The ability of brown adipocytes (fat cells) to dissipate energy as heat shows great promise for the treatment of obesity and other metabolic disorders", "Inappropriate heat dissipation ignites brown fat thermogenesis in mice with a mutant thyroid hormone receptor α1", "Brown fat and vascular heat dissipation: The new cautionary tail", "Brown adipose produces heat as a defense against hypothermia and obesity, and the appearance of brown-like adipocytes within white adipose tissue depots is associated with improved metabolic phenotypes. ", "In the same manner, marked ability to produce a considerable amount of heat was evidenced in brown fat tissue of children and teenagers. ", "Brown fat cells were classified into 6 types: Type 1 cells are fat-depleted cells filled with granular cytoplasm and are believed to be produced after oxidation of fat for heat production. ", "It is inferred that brown-adipose-tissue heat production is reduced during (and probably also some time after) anesthesia. ", "Parallel measurements of heat production and thermogenin content in brown fat cells during cold acclimation of rats.", "The classical white adipose tissue builds up energy in the form of triglycerides and is useful for preventing fatigue during periods of low caloric intake and the brown adipose tissue instead of inducing fat accumulation can produce energy as heat.", "In response to cold, both classical brown fat and the newly identified \"beige\" or \"brite\" cells are activated by β-adrenergic signaling and catabolize stored lipids and carbohydrates to produce heat via UCP1.", "White adipose tissue stores energy reserves as fat, whereas the metabolic function of brown adipose tissue is lipid oxidation to produce heat.", "The main function of brown adipose tissue (BAT) is to produce heat in response to cold.", "Brown adipocytes oxidize fatty acids to produce heat in response to cold or caloric overfeeding.", "Brown fat (brown adipose tissue, BAT) primary function is to produce heat.", "Adipose tissue plays an active role in energy balance because it is not only a lipid storing and mobilizing tissue but consists of functionally specialized tissues able to produce heat (in brown adipose tissue) and to produce or release a vast number of so called adipokines or adipocytokines.", "Brown adipose tissue (BAT), a specialized fat that dissipates energy to produce heat, plays an important role in the regulation of energy balance.", "Brown adipose cells are specialized to dissipate chemical energy in the form of heat, as a physiological defence against cold and obesity.", "In the present study, the thermogenesis of human brown fat tissue was suggested chiefly with regard to the occurrence of Types 1 and/or 6 cells.", "In the same manner, marked ability to produce a considerable amount of heat was evidenced in brown fat tissue of children and teenagers.", "Adult humans have heat-producing and energy-consuming brown adipose tissue in the clavicular region of the neck.", "Brown and beige adipocytes expend chemical energy to produce heat and are therefore important in regulating body temperature and body weight.", "In human perirenal brown fat tissue, darkly stained fat-depleted cells (D) occupy, with other cell types (CR, CR'), an important part in the reversible heat production cycle of the brown fat tissue.", "Brown fat is a specialized fat depot that can increase energy expenditure and produce heat." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23834768", "http://www.ncbi.nlm.nih.gov/pubmed/26910308", "http://www.ncbi.nlm.nih.gov/pubmed/22796012", "http://www.ncbi.nlm.nih.gov/pubmed/21196229", "http://www.ncbi.nlm.nih.gov/pubmed/23818608", "http://www.ncbi.nlm.nih.gov/pubmed/6148836", "http://www.ncbi.nlm.nih.gov/pubmed/3083882", "http://www.ncbi.nlm.nih.gov/pubmed/26496384", "http://www.ncbi.nlm.nih.gov/pubmed/26322018", "http://www.ncbi.nlm.nih.gov/pubmed/15058310", "http://www.ncbi.nlm.nih.gov/pubmed/6819159", "http://www.ncbi.nlm.nih.gov/pubmed/21982742", "http://www.ncbi.nlm.nih.gov/pubmed/24567786", "http://www.ncbi.nlm.nih.gov/pubmed/27528872", "http://www.ncbi.nlm.nih.gov/pubmed/8042786", "http://www.ncbi.nlm.nih.gov/pubmed/25642708", "http://www.ncbi.nlm.nih.gov/pubmed/962510", "http://www.ncbi.nlm.nih.gov/pubmed/27528697", "http://www.ncbi.nlm.nih.gov/pubmed/27552974", "http://www.ncbi.nlm.nih.gov/pubmed/1550210", "http://www.ncbi.nlm.nih.gov/pubmed/25068090", "http://www.ncbi.nlm.nih.gov/pubmed/2039657", "http://www.ncbi.nlm.nih.gov/pubmed/21123942", "http://www.ncbi.nlm.nih.gov/pubmed/9277366", "http://www.ncbi.nlm.nih.gov/pubmed/24129212", "http://www.ncbi.nlm.nih.gov/pubmed/5262992", "http://www.ncbi.nlm.nih.gov/pubmed/24046370", "http://www.ncbi.nlm.nih.gov/pubmed/26912151", "http://www.ncbi.nlm.nih.gov/pubmed/6315457", "http://www.ncbi.nlm.nih.gov/pubmed/541897", "http://www.ncbi.nlm.nih.gov/pubmed/25466254", "http://www.ncbi.nlm.nih.gov/pubmed/16594742", "http://www.ncbi.nlm.nih.gov/pubmed/26749900", "http://www.ncbi.nlm.nih.gov/pubmed/22654830", "http://www.ncbi.nlm.nih.gov/pubmed/19641492" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002477", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002001", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D052437", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006359", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005223" ]

[ "A mimotope vaccine contains peptide mimics of specific antigen epitopes, which alter the antigen presentation and/or T cell activation to increase the expansion of tumor-specific T cells and are able to induce polyclonal antibodies response." ]

[]

[ "These data are proof of principle that by performing affinity selection on neutralizing antibodies, our VLP technology can identify peptide mimics of non-linear epitopes and that these mimotope based VLP vaccines provide protection against pathogens in relevant animal models.", "A major hurdle in vaccine development is the difficulty in identifying relevant target epitopes and then presenting them to the immune system in a context that mimics their native conformation. We have engineered novel virus-like-particle (VLP) technology that is able to display complex libraries of random peptide sequences on a surface-exposed loop in the coat protein without disruption of protein folding or VLP assembly. This technology allows us to use the same VLP particle for both affinity selection and immunization, integrating the power of epitope discovery and epitope mimicry of traditional phage display with the high immunogenicity of VLPs.", "Our data suggest that the improved tumor immunity results from the expansion of mimotope-elicited tumor-specific T cells that have increased avidity for the tumor antigen. The enhanced T cells are phenotypically distinct and enriched for T-cell receptors previously correlated with improved antitumor immunity. These results suggest that incorporation of native antigen into clinical mimotope vaccine regimens may improve the efficacy of antitumor T-cell responses.", "One strategy for overcoming these mechanisms is vaccination with mimotopes, or peptide mimics of tumor antigens, which alter the antigen presentation and/or T cell activation to increase the expansion of tumor-specific T cells. ", "The high molecular weight melanoma-associated antigen (HMW-MAA) is an attractive target for immunotherapy of malignant melanoma. We have recently generated a vaccine based on the HMW-MAA mimotope 225D9.2+ that was able to induce anti-HMW-MAA antibodies with antitumor activity in vitro. ", "Peptide mimics of a conformational epitope that is recognized by a mAb with antitumor activity are promising candidates for formulations of anticancer vaccines. These mimotope vaccines are able to induce a polyclonal Ab response focused to the determinant of the mAb. ", "Carbohydrate mimetic peptides of tumor associated carbohydrate antigens (TACA) are T-cell-dependent antigens and, therefore, immunization with these surrogates is predicted to overcome the low immunogenicity of carbohydrate antigens. Consistent with this hypothesis, we show that among the potential immune cells involved, peptide immunization led to an increase in T-cell populations. ", "To explore the mimotope vaccine approach against infectious bursal disease virus (IBDV), five IBDV-specific monoclonal antibodies (mAbs) were prepared and their binding peptides were screened against a phage-displayed 12-mer peptide library. After three rounds of biopanning, 12 phages were selected for each mAbs and their specificity to IBDV was verified by sandwich and competitive inhibition ELISAs. Seven phages per mAb were sequenced and their amino acid sequences were deduced. The five representative sequences of mimotopes corresponding mAbs were determined. An artificial gene, designated 5epis (5 epitopes) and consisting of the five mimotopes arranged in tandem (F1-F7-B34-2B1-2G8) with four GGGS spacers, was chemically synthesized and cloned into a prokaryotic expression plasmid pET28b. ", "The mimotope vaccine was then generated by coupling the most suitable candidate mimotope to tetanus toxoid as an immunogenic carrier.", "We hypothesized that boosting the mimotope vaccine with the native tumor antigen would focus the T-cell response elicited by the mimotope toward high affinity, tumor-specific T cells.", "Following the mice immunization, phage-based mimotope vaccine induced humoral immunity.", "In this article we focus on cancer vaccines for antibody production, in particular mimotope vaccines.", "Vaccines that incorporate peptide mimics of tumor antigens, or mimotope vaccines, are commonly used in cancer immunotherapy and function by eliciting increased numbers of T cells that cross-react with the native tumor antigen.", "We hypothesized that boosting the mimotope vaccine with the native tumor antigen would focus the T-cell response elicited by the mimotope toward high affinity, tumor-specific T cells.", "Augmenting antitumor T-cell responses to mimotope vaccination by boosting with native tumor antigens.", "Induction of protective immune responses against NXS2 neuroblastoma challenge in mice by immunotherapy with GD2 mimotope vaccine and IL-15 and IL-21 gene delivery.", "These mimotope vaccines are able to induce a polyclonal Ab response focused to the determinant of the mAb.", "We therefore suggest that mimotope gene vaccines are potential candidates for epitope-specific immunotherapy of type I allergy.", "Conformational B-cell epitopes on the HCV E2 protein recognized by human antibodies were characterized by the use of a peptide mimotope named K1.", "Following the mice immunization, phage-based mimotope vaccine induced humoral immunity.", "In this article we focus on cancer vaccines for antibody production, in particular mimotope vaccines." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15634921", "http://www.ncbi.nlm.nih.gov/pubmed/16634806", "http://www.ncbi.nlm.nih.gov/pubmed/19344285", "http://www.ncbi.nlm.nih.gov/pubmed/16814270", "http://www.ncbi.nlm.nih.gov/pubmed/19846865", "http://www.ncbi.nlm.nih.gov/pubmed/17597331", "http://www.ncbi.nlm.nih.gov/pubmed/7534789", "http://www.ncbi.nlm.nih.gov/pubmed/24106273", "http://www.ncbi.nlm.nih.gov/pubmed/19695868", "http://www.ncbi.nlm.nih.gov/pubmed/23161490", "http://www.ncbi.nlm.nih.gov/pubmed/19088033", "http://www.ncbi.nlm.nih.gov/pubmed/27622022", "http://www.ncbi.nlm.nih.gov/pubmed/17445956", "http://www.ncbi.nlm.nih.gov/pubmed/25990849", "http://www.ncbi.nlm.nih.gov/pubmed/22936035", "http://www.ncbi.nlm.nih.gov/pubmed/11122460", "http://www.ncbi.nlm.nih.gov/pubmed/21919618", "http://www.ncbi.nlm.nih.gov/pubmed/19111573", "http://www.ncbi.nlm.nih.gov/pubmed/20493257", "http://www.ncbi.nlm.nih.gov/pubmed/20827761", "http://www.ncbi.nlm.nih.gov/pubmed/25379726", "http://www.ncbi.nlm.nih.gov/pubmed/16685414" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016233", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D064166", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014612" ]

[ "Mal de debarquement syndrome (MdDS) is a disorder of chronic self-motion perception that occurs though entrainment to rhythmic background motion, such as from sea voyage, and involves the perception of low-frequency rocking that can last for months or years." ]

[]

[ "Mal de debarquement (MdD) is a subjective perception of self-motion after exposure to passive motion, in most cases sea travel, hence the name. Mal de debarquement occurs quite frequently in otherwise healthy individuals for a short period of time (several hours). However, in some people symptoms remain for a longer period of time or even persist and this is then called mal de debarquement syndrome (MdDS).", "OBJECTIVE: Mal de debarquement syndrome (MdDS) is a balance disorder that typically starts after an extended exposure to passive motion, such as a boat or plane ride. ", "Mal de debarquement syndrome (MdDS) is a rare and poorly understood condition of perceived continual motion.", "BACKGROUND: Mal de debarquement syndrome (MdDS) is a disorder of chronic self-motion perception that occurs though entrainment to rhythmic background motion, such as from sea voyage, and involves the perception of low-frequency rocking that can last for months or years. ", "It is characterized by abnormal sensation of motion/balance reported after travel by air, land, and sea; being reexposed to motion/activity relieves it. Symptoms may last from minutes to years. ", "Persistent mal de debarquement syndrome: a motion-induced subjective disorder of balance.", "Mal de debarquement syndrome (MdDS) is a disorder of phantom perception of self-motion of unknown cause. ", "Mal de debarquement (MDD) is a common, benign, and self-limited syndrome suffered by many people after disembarkation from an oceangoing vessel.", "Persistent mal de debarquement syndrome: a motion-induced subjective disorder of balance." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25570942", "http://www.ncbi.nlm.nih.gov/pubmed/25076935", "http://www.ncbi.nlm.nih.gov/pubmed/26346344", "http://www.ncbi.nlm.nih.gov/pubmed/23219828", "http://www.ncbi.nlm.nih.gov/pubmed/25809585", "http://www.ncbi.nlm.nih.gov/pubmed/26559820", "http://www.ncbi.nlm.nih.gov/pubmed/26252893", "http://www.ncbi.nlm.nih.gov/pubmed/17046477", "http://www.ncbi.nlm.nih.gov/pubmed/27730651", "http://www.ncbi.nlm.nih.gov/pubmed/23202153", "http://www.ncbi.nlm.nih.gov/pubmed/25726862", "http://www.ncbi.nlm.nih.gov/pubmed/23209584", "http://www.ncbi.nlm.nih.gov/pubmed/8336953", "http://www.ncbi.nlm.nih.gov/pubmed/23091536", "http://www.ncbi.nlm.nih.gov/pubmed/3631419", "http://www.ncbi.nlm.nih.gov/pubmed/24594496", "http://www.ncbi.nlm.nih.gov/pubmed/22231864", "http://www.ncbi.nlm.nih.gov/pubmed/25331814" ]

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

[ "Burkholderia pseudomallei is the causative agent of melioidosis" ]

[ "yes" ]

[ "Burkholderia pseudomallei, the causative agent of melioidosis,", "What drives the occurrence of the melioidosis bacterium Burkholderia pseudomallei in domestic gardens?", "Landscape changes influence the occurrence of the melioidosis bacterium Burkholderia pseudomallei in soil in northern Australia.", "Out of the ground: aerial and exotic habitats of the melioidosis bacterium Burkholderia pseudomallei in grasses in Australia.", "Melioidosis, caused by the gram-negative bacterium Burkholderia pseudomallei, is a common cause of community-acquired sepsis in Southeast Asia and Northern Australia.", "Melioidosis is a suppurative chronic infection caused by a gramnegative bacterium, Burkholderia pseudomallei.", "Melioidosis is an infection caused by the gram-negative bacterium Burkholderia pseudomallei.", "Melioidosis is an infectious disease caused by a saprophytic bacterium, Burkholderia pseudomallei.", "Melioidosis is an infectious disease caused by the Gram-negative bacterium Burkholderia pseudomallei.", "Melioidosis is a pyogenic infection with high mortality caused by the bacterium Burkholderia pseudomallei.", "Melioidosis is a tropical infectious disease caused by the gram-negative bacterium Burkholderia pseudomallei.", "Melioidosis is a potentially fatal disease caused by the bacterium Burkholderia pseudomallei.", "Melioidosis is a rare tropical disease caused by infection with the bacterium Burkholderia pseudomallei.", "The mechanisms involved in the pathogenesis of melioidosis, caused by the intracellular bacterium Burkholderia pseudomallei, are unclear.", "Melioidosis is an emerging tropical infection caused by the intracellular bacterium Burkholderia pseudomallei, and is associated with high mortality rates.", "Melioidosis is an increasingly recognised cause of sepsis and death across South East Asia and Northern Australia, caused by the bacterium Burkholderia pseudomallei", "Melioidosis, an infection caused by the gram-negative bacterium Burkholderia pseudomallei, is an important cause of pneumonia, skin infection, sepsis, and death in Southeast Asia and Australia, but is exceedingly rare in North America", "The Gram-negative bacterium Burkholderia pseudomallei is able to survive and replicate within leukocytes and causes melioidosis, an important cause of pneumonia-derived community-acquired sepsis in Southeast Asia", "Melioidosis, a lethal tropical infection that is endemic in southeast Asia and northern Australia, is caused by the saprophytic Gram-negative bacterium Burkholderia pseudomallei", "Melioidosis is an emerging infectious disease caused by the soil bacterium Burkholderia pseudomallei", "Melioidosis is a tropical disease of high mortality caused by the environmental bacterium, Burkholderia pseudomallei", "Melioidosis is an infectious disease caused by Burkholderia pseudomallei, a bacterium endemic in Southeast Asia and northern Australia", "Melioidosis is a life-threatening infection caused by the Gram-negative bacterium Burkholderia pseudomallei, mainly found in Southeast Asia", "Melioidosis, caused by the Gram-negative bacterium Burkholderia pseudomallei, is a dreadful disease common in South-East Asia and Northern Australia and is characterized by chronic suppurative lesions and pneumonia", "Melioidosis is caused by the environmental bacterium Burkholderia pseudomallei and can present with severe sepsis", "Melioidosis is an emerging infectious disease of humans and animals in the tropics caused by the soil bacterium Burkholderia pseudomallei. ", "Melioidosis is a potentially fatal disease caused by the bacterium Burkholderia pseudomallei. ", "Melioidosis, infection caused by the Gram-negative bacterium Burkholderia pseudomallei, is a common cause of sepsis in northeast Thailand. ", "Melioidosis is a potentially fatal disease caused by the bacterium, Burkholderia pseudomallei. ", "BACKGROUND: The soil-dwelling saprophyte bacterium Burkholderia pseudomallei is the cause of melioidosis, a severe disease of humans and animals in southeast Asia and northern Australia. ", "Melioidosis is an endemic disease caused by the bacterium Burkholderia pseudomallei. ", "Melioidosis is a severe infection caused by the gram-negative bacterium, Burkholderia pseudomallei, that is endemic in Southeast Asia. ", "Melioidosis, infection caused by the Gram-negative bacterium Burkholderia pseudomallei, is a common cause of sepsis in northeast Thailand.", "Melioidosis is a clinically diverse disease caused by the facultative intracellular Gram-negative bacterium, Burkholderia pseudomallei.", "Melioidosis is caused by the environmental bacterium Burkholderia pseudomallei and can present with severe sepsis.", "Melioidosis is a severe infection caused by the gram-negative bacterium, Burkholderia pseudomallei, that is endemic in Southeast Asia.", "Melioidosis, a lethal tropical infection that is endemic in southeast Asia and northern Australia, is caused by the saprophytic Gram-negative bacterium Burkholderia pseudomallei.", "Melioidosis, a severe human disease caused by the bacterium Burkholderia pseudomallei, has a wide spectrum of clinical manifestations ranging from acute septicemia to chronic localized illness or latent infection.", "Melioidosis, an often fatal infectious disease in Northeast Thailand, is caused by skin inoculation, inhalation or ingestion of the environmental bacterium, Burkholderia pseudomallei.", "Melioidosis is an infection caused by Gram-negative bacterium, Burkholderia pseudomallei.", "Melioidosis, caused by the Gram-negative bacterium Burkholderia pseudomallei, is a dreadful disease common in South-East Asia and Northern Australia and is characterized by chronic suppurative lesions and pneumonia.", "Largely due to its recognition as a biological threat agent, current knowledge on melioidosis, caused by the Gram-negative bacterium Burkholderia pseudomallei, has increased tremendously over the last years.", "Melioidosis is an endemic disease caused by the bacterium Burkholderia pseudomallei.", "Melioidosis is a potentially fatal disease caused by the bacterium Burkholderia pseudomallei.", "Melioidosis is a potentially fatal disease caused by the bacterium, Burkholderia pseudomallei.", "Melioidosis is a disease of humans and animals that is caused by the saprophytic bacterium Burkholderia pseudomallei.", "Melioidosis is an emerging infectious disease of humans and animals in the tropics caused by the soil bacterium Burkholderia pseudomallei.", "The soil-dwelling saprophyte bacterium Burkholderia pseudomallei is the cause of melioidosis, a severe disease of humans and animals in southeast Asia and northern Australia.", "Melioidosis is an often fatal infectious disease affecting humans and animals in tropical regions and is caused by the saprophytic environmental bacterium Burkholderia pseudomallei.", "We have recently shown that during melioidosis, a severe infection caused by the gram-negative bacterium Burkholderia pseudomallei, TLR2 but not TLR4 impacts the immune response of the intact host in vivo.", "It is caused by the bacterium Burkholderia pseudomallei, which can infect many organs of the body, including the brain, and results in neurological symptoms.", "Melioidosis is a frequent cause of severe sepsis in Southeast Asia caused by the gram-negative bacterium Burkholderia pseudomallei.", "What drives the occurrence of the melioidosis bacterium Burkholderia pseudomallei in domestic gardens?", "The Gram-negative bacterium Burkholderia pseudomallei is the causative agent of melioidosi", "The environmental bacterium Burkholderia pseudomallei causes the infectious disease melioidosis with a high case-fatality rate in tropical and subtropical regions.", "Burkholderia pseudomallei is a soil-dwelling bacterium and the cause of melioidosis", "Melioidosis, an infectious disease caused by the Gram-negative bacterium Burkholderia pseudomallei,", "Melioidosis is a frequently fatal infectious disease caused by the soil dwelling Gram-negative bacterium Burkholderia pseudomallei. ", "Burkholderia pseudomallei, an environmental bacterium that causes the deadly disease melioidosis, ", "Melioidosis is an important public health problem in Southeast Asia and Northern Australia. This disease is caused by the gram-negative bacilli, Burkholderia pseudomallei", "Melioidosis, caused by Burkholderia pseudomallei, is an important cause of community-acquired sepsis in Southeast-Asi", "Melioidosis is a potentially fatal disease caused by the saprophytic bacterium Burkholderia pseudomallei", "Melioidosis is a disease of humans caused by opportunistic infection with the soil and water bacterium Burkholderia pseudomallei." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24603493", "http://www.ncbi.nlm.nih.gov/pubmed/26542622", "http://www.ncbi.nlm.nih.gov/pubmed/25653950", "http://www.ncbi.nlm.nih.gov/pubmed/19538822", "http://www.ncbi.nlm.nih.gov/pubmed/22176696", "http://www.ncbi.nlm.nih.gov/pubmed/17582188", "http://www.ncbi.nlm.nih.gov/pubmed/26495852", "http://www.ncbi.nlm.nih.gov/pubmed/12139670", "http://www.ncbi.nlm.nih.gov/pubmed/19156200", "http://www.ncbi.nlm.nih.gov/pubmed/26935879", "http://www.ncbi.nlm.nih.gov/pubmed/27427979", "http://www.ncbi.nlm.nih.gov/pubmed/25803046", "http://www.ncbi.nlm.nih.gov/pubmed/26710411", "http://www.ncbi.nlm.nih.gov/pubmed/9753000", "http://www.ncbi.nlm.nih.gov/pubmed/15191392", "http://www.ncbi.nlm.nih.gov/pubmed/12803798", "http://www.ncbi.nlm.nih.gov/pubmed/27694236", "http://www.ncbi.nlm.nih.gov/pubmed/17563759", "http://www.ncbi.nlm.nih.gov/pubmed/18691413", "http://www.ncbi.nlm.nih.gov/pubmed/22473609", "http://www.ncbi.nlm.nih.gov/pubmed/24736221", "http://www.ncbi.nlm.nih.gov/pubmed/24067292", "http://www.ncbi.nlm.nih.gov/pubmed/27219859", "http://www.ncbi.nlm.nih.gov/pubmed/22442327", "http://www.ncbi.nlm.nih.gov/pubmed/11495298", "http://www.ncbi.nlm.nih.gov/pubmed/15380526", "http://www.ncbi.nlm.nih.gov/pubmed/14604083", "http://www.ncbi.nlm.nih.gov/pubmed/22564963", "http://www.ncbi.nlm.nih.gov/pubmed/20142364", "http://www.ncbi.nlm.nih.gov/pubmed/25689538", "http://www.ncbi.nlm.nih.gov/pubmed/24065633", "http://www.ncbi.nlm.nih.gov/pubmed/17676990", "http://www.ncbi.nlm.nih.gov/pubmed/24962103", "http://www.ncbi.nlm.nih.gov/pubmed/17062053", "http://www.ncbi.nlm.nih.gov/pubmed/20169062", "http://www.ncbi.nlm.nih.gov/pubmed/19276877", "http://www.ncbi.nlm.nih.gov/pubmed/18855560", "http://www.ncbi.nlm.nih.gov/pubmed/26311902", "http://www.ncbi.nlm.nih.gov/pubmed/26607593", "http://www.ncbi.nlm.nih.gov/pubmed/24392083", "http://www.ncbi.nlm.nih.gov/pubmed/27472421", "http://www.ncbi.nlm.nih.gov/pubmed/26526925", "http://www.ncbi.nlm.nih.gov/pubmed/20532233", "http://www.ncbi.nlm.nih.gov/pubmed/19679240", "http://www.ncbi.nlm.nih.gov/pubmed/25943405", "http://www.ncbi.nlm.nih.gov/pubmed/25442759" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019121", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016957", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008554" ]

[ "Verubecestat (MK-8931), a diaryl amide-substituted 3-imino-1,2,4-thiadiazinane 1,1-dioxide derivative, is a potent, selective, structurally unique BACE1 inhibitor that reduced plasma, cerebrospinal fluid (CSF), and brain concentrations of Aβ40, Aβ42, and sAPPβ (a direct product of BACE1 enzymatic activity)." ]

[]

[ "The BACE1 inhibitor verubecestat (MK-8931) reduces CNS β-amyloid in animal models and in Alzheimer's disease patients.", "We show that verubecestat (MK-8931) is a potent, selective, structurally unique BACE1 inhibitor that reduced plasma, cerebrospinal fluid (CSF), and brain concentrations of Aβ40, Aβ42, and sAPPβ (a direct product of BACE1 enzymatic activity) after acute and chronic administration to rats and monkeys.", "Discovery of the 3-Imino-1,2,4-thiadiazinane 1,1-Dioxide Derivative Verubecestat (MK-8931)-A β-Site Amyloid Precursor Protein Cleaving Enzyme 1 Inhibitor for the Treatment of Alzheimer's Disease.", "Verubecestat 3 (MK-8931), a diaryl amide-substituted 3-imino-1,2,4-thiadiazinane 1,1-dioxide derivative, is a high-affinity β-site amyloid precursor protein cleaving enzyme 1 (BACE1) inhibitor currently undergoing Phase 3 clinical evaluation for the treatment of mild to moderate and prodromal Alzheimer's disease. ", "Synthesis of Verubecestat, a BACE1 Inhibitor for the Treatment of Alzheimer's Disease.", "Verubecestat is an inhibitor of β-secretase being evaluated for the treatment of Alzheimer's disease. ", "Verubecestat is an inhibitor of β-secretase being evaluated for the treatment of Alzheimer's disease.", "After giving an update on the development and current status of new AD therapeutics, this review will focus on BACE inhibitors and, in particular, will discuss the prospects of verubecestat (MK-8931), which has reached phase III clinical trials.", "Although not selective over the closely related aspartyl protease BACE2, verubecestat has high selectivity for BACE1 over other key aspartyl proteases, notably cathepsin D, and profoundly lowers CSF and brain Aβ levels in rats and nonhuman primates and CSF Aβ levels in humans.", "We show that verubecestat (MK-8931) is a potent, selective, structurally unique BACE1 inhibitor that reduced plasma, cerebrospinal fluid (CSF), and brain concentrations of Aβ40, Aβ42, and sAPPβ (a direct product of BACE1 enzymatic activity) after acute and chronic administration to rats and monkeys.", "Verubecestat 3 (MK-8931), a diaryl amide-substituted 3-imino-1,2,4-thiadiazinane 1,1-dioxide derivative, is a high-affinity β-site amyloid precursor protein cleaving enzyme 1 (BACE1) inhibitor currently undergoing Phase 3 clinical evaluation for the treatment of mild to moderate and prodromal Alzheimer's disease.", "Chronic treatment of rats and monkeys with verubecestat achieved exposures >40-fold higher than those being tested in clinical trials in AD patients yet did not elicit many of the adverse effects previously attributed to BACE inhibition, such as reduced nerve myelination, neurodegeneration, altered glucose homeostasis, or hepatotoxicity.", "Expert opinion: Drugs in Phase III clinical development for AD include one inhibitor of the β-secretase cleaving enzyme (BACE) (verubecestat), three anti-Aβ monoclonal antibodies (solanezumab, gantenerumab, and aducanumab), an inhibitor of receptor for advanced glycation end products (RAGE) (azeliragon) and the combination of cromolyn sodium and ibuprofen (ALZT-OP1).", "Synthesis of Verubecestat, a BACE1 Inhibitor for the Treatment of Alzheimer's Disease.", "The BACE1 inhibitor verubecestat (MK-8931) reduces CNS β-amyloid in animal models and in Alzheimer's disease patients.", "Discovery of the 3-Imino-1,2,4-thiadiazinane 1,1-Dioxide Derivative Verubecestat (MK-8931)-A β-Site Amyloid Precursor Protein Cleaving Enzyme 1 Inhibitor for the Treatment of Alzheimer's Disease.", "After giving an update on the development and current status of new AD therapeutics, this review will focus on BACE inhibitors and, in particular, will discuss the prospects of verubecestat (MK-8931), which has reached phase III clinical trials.", "Although not selective over the closely related aspartyl protease BACE2, verubecestat has high selectivity for BACE1 over other key aspartyl proteases, notably cathepsin D, and profoundly lowers CSF and brain Aβ levels in rats and nonhuman primates and CSF Aβ levels in humans." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27933948", "http://www.ncbi.nlm.nih.gov/pubmed/27023706", "http://www.ncbi.nlm.nih.gov/pubmed/27678025", "http://www.ncbi.nlm.nih.gov/pubmed/27807285", "http://www.ncbi.nlm.nih.gov/pubmed/27934506" ]

[]

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

[ "of these markers - 1p/19q deletions , mgmt methylation status , and mutations in the idh1 gene - are so potent that a new brain tumor subtype , the \"triple negative\" glioma (1p/19q intact , mgmt unmethylated , idh1 non-mutated) has entered common parlance . ", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis.", "Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. ", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. On the basis of previous studies of tumor biology, we defined five glioma molecular groups with the use of three alterations: mutations in the TERT promoter, mutations in IDH, and codeletion of chromosome arms 1p and 19q (1p/19q codeletion). Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. (Funded by the National Institutes of Health and others. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance.", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance. ", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative (IDH-/p53-/1p19q-), this last subgroup having the worst prognosis.", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance. ", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations", "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance" ]

[]

[ "According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis.", "Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. ", "Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations", "Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance", "Few data are available in the literature regarding the relationship between IDH mutations and HIF expression in low-grade gliomas (LGGs), especially in a recently described aggressive molecular subtype: \"triple negative\" (IDH non mutated, 1p 19q non codeleted, p53 expression negative) gliomas.", "Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas.", "Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the \"triple negative\" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance.", "Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas", "Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas.", "Few data are available in the literature regarding the relationship between IDH mutations and HIF expression in low-grade gliomas (LGGs), especially in a recently described aggressive molecular subtype: \"triple negative\" (IDH non mutated, 1p 19q non codeleted, p53 expression negative) gliomas." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23288644", "http://www.ncbi.nlm.nih.gov/pubmed/22890969", "http://www.ncbi.nlm.nih.gov/pubmed/26989023", "http://www.ncbi.nlm.nih.gov/pubmed/23831947", "http://www.ncbi.nlm.nih.gov/pubmed/26061753", "http://www.ncbi.nlm.nih.gov/pubmed/21889777" ]

[]

[]

[ "Ectopia Lentis is dislocation of the optic lens in the eye." ]

[]

[ "bilateral lens dislocation", "Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis)", "Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25797933", "http://www.ncbi.nlm.nih.gov/pubmed/25939784", "http://www.ncbi.nlm.nih.gov/pubmed/19200529" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004479" ]

[ "Yes. Glyburide, a selective inhibitor of sulfonylurea receptor 1-transient receptor potential melastatin 4, is effective in preventing and attenuating cerebral edema." ]

[ "yes" ]

[ "Preclinical studies have shown that a continuous infusion of glyburide blocks edema formation and improves outcome. We hypothesize that treatment with RP-1127 (Glyburide for Injection) reduces formation of brain edema in patients after large anterior circulation infarction.", "CONCLUSIONS: GAMES-RP was designed to provide critical information regarding glyburide for injection in patients with large hemispheric stroke and will inform the design of future studies.", "Glyburide is associated with attenuated vasogenic edema in stroke patients.", "Glyburide is reported to prevent brain swelling in preclinical rodent models of ischemic stroke through inhibition of a non-selective channel composed of sulfonylurea receptor 1 and transient receptor potential cation channel subfamily M member 4. ", "RESULTS: We report that IV glyburide was associated with T2 fluid-attenuated inversion recovery signal intensity ratio on brain MRI, diminished the lesional water diffusivity between days 1 and 2 (pseudo-normalization), and reduced blood MMP-9 level.CONCLUSIONS: Several surrogate markers of vasogenic edema appear to be reduced in the setting of IV glyburide treatment in human stroke. ", "Pilot study of intravenous glyburide in patients with a large ischemic stroke.", "BACKGROUND AND PURPOSE: Preclinical and retrospective clinical data indicate that glyburide, a selective inhibitor of sulfonylurea receptor 1-transient receptor potential melastatin 4, is effective in preventing edema and improving outcome after focal ischemia. ", "Preclinical data suggest that glyburide, an inhibitor of SUR1-TRPM4, is effective in preventing edema.", "Glyburide in Treating Malignant Cerebral Edema. ", "Glyburide in Treating Malignant Cerebral Edema. Blocking Sulfonyl Urea One (SUR1) Receptors.", "The sulfonylurea receptor 1-regulated NC(Ca-ATP) channel is upregulated in rodent models of stroke with block of the channel by the sulfonylurea, glibenclamide (glyburide), significantly reducing mortality, cerebral edema, and infarct volume.", "Glyburide is a safe, inexpensive, and efficacious alternative to dexamethasone for the treatment of cerebral metastasis-related vasogenic edema.", "In this focused review, we explore preclinical data linking Sur1 channel formation to development of edema and reference evidence suggesting that the antidiabetic sulfonylurea drug glyburide (a Sur1 inhibitor) is an inexpensive and well-tolerated agent that can be clinically tested to reduce or prevent malignancy and/or treatment-associated edema.", "Potential of glyburide to reduce intracerebral edema in brain metastases.", "Glyburide Advantage in Malignant Edema and Stroke (GAMES-RP) Trial: Rationale and Design.", "Preclinical data suggest that glyburide, an inhibitor of SUR1-TRPM4, is effective in preventing edema.", "Inhibition of sulfonylurea receptor 1 (SUR1) by glyburide has been shown to decrease edema after subarachnoid hemorrhage.", "Glyburide is a safe, inexpensive, and efficacious alternative to dexamethasone for the treatment of cerebral metastasis-related vasogenic edema", "RESULTS: We report that IV glyburide was associated with T2 fluid-attenuated inversion recovery signal intensity ratio on brain MRI, diminished the lesional water diffusivity between days 1 and 2 (pseudo-normalization), and reduced blood MMP-9 level. ", "Preclinical data suggest that glyburide, an inhibitor of SUR1-TRPM4, is effective in preventing edema. ", "Exploratory analysis of glyburide as a novel therapy for preventing brain swelling.", "Inhibition of sulfonylurea receptor 1 (SUR1) by glyburide has been shown to decrease edema after subarachnoid hemorrhage. ", "In this focused review, we explore preclinical data linking Sur1 channel formation to development of edema and reference evidence suggesting that the antidiabetic sulfonylurea drug glyburide (a Sur1 inhibitor) is an inexpensive and well-tolerated agent that can be clinically tested to reduce or prevent malignancy and/or treatment-associated edema.", "Glyburide is a safe, inexpensive, and efficacious alternative to dexamethasone for the treatment of cerebral metastasis-related vasogenic edema.", "Glyburide is reported to prevent brain swelling in preclinical rodent models of ischemic stroke through inhibition of a non-selective channel composed of sulfonylurea receptor 1 and transient receptor potential cation channel subfamily M member 4.", "Several surrogate markers of vasogenic edema appear to be reduced in the setting of IV glyburide treatment in human stroke.", "We hypothesize that treatment with RP-1127 (Glyburide for Injection) reduces formation of brain edema in patients after large anterior circulation infarction.", "Glyburide is a safe, inexpensive, and efficacious alternative to dexamethasone for the treatment of cerebral metastasis-related vasogenic edema..", "Glyburide is associated with attenuated vasogenic edema in stroke patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24193798", "http://www.ncbi.nlm.nih.gov/pubmed/25422710", "http://www.ncbi.nlm.nih.gov/pubmed/26463916", "http://www.ncbi.nlm.nih.gov/pubmed/24072459", "http://www.ncbi.nlm.nih.gov/pubmed/24552576", "http://www.ncbi.nlm.nih.gov/pubmed/24671831", "http://www.ncbi.nlm.nih.gov/pubmed/23633925", "http://www.ncbi.nlm.nih.gov/pubmed/17673715", "http://www.ncbi.nlm.nih.gov/pubmed/26268138" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001929", "http://www.biosemantics.org/jochem#4275786", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275786", "http://www.disease-ontology.org/api/metadata/DOID:4724", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005905" ]

[ "The gasdermin-N domains of the gasdermin proteins can bind membrane lipids, phosphoinositides and cardiolipin to produce membrane-disrupting cytotoxicity." ]

[]

[ "gasdermin D (GSDMD) protein to trigger pyroptosis, a lytic form of cell death that is crucial for immune defences and diseases. ", "Here we show that the gasdermin-N domains of the gasdermin proteins GSDMD, GSDMA3 and GSDMA can bind membrane lipids, phosphoinositides and cardiolipin, and exhibit membrane-disrupting cytotoxicity in mammalian cells and artificially transformed bacteria." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26482951", "http://www.ncbi.nlm.nih.gov/pubmed/27932073", "http://www.ncbi.nlm.nih.gov/pubmed/27281216", "http://www.ncbi.nlm.nih.gov/pubmed/26611636" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C1539620", "o": "http://linkedlifedata.com/resource/umls/label/A20719561" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A20719561", "o": "gasdermin D" } ]

[ "http://www.uniprot.org/uniprot/GSDMD_MOUSE", "http://www.uniprot.org/uniprot/GSDMD_HUMAN" ]

[ "TOPAZ1 is a novel germ cell-specific expressed gene conserved during evolution across vertebrates. Its PAZ-domain protein is abundantly expressed in the gonads during germ cell meiosis. The expression pattern of TOPAZ1, and its high degree of conservation, suggests that it may play an important role in germ cell development. Further characterization of TOPAZ1 may elucidate the mechanisms involved in gametogenesis, and particularly in the RNA silencing process in the germ line.", "TOPAZ1 (Testis and Ovary-specific PAZ domain gene 1) is a germ cell specific factor that is essential for male meiotic progression. Topaz1 is supposed to have a role during gametogenesis and may be involved in the piRNA pathway and contribute to silencing of transposable elements and maintenance of genome integrity. It is highly conserved in vertebrates." ]

[]

[ "TOPAZ1, a germ cell specific factor, is essential for male meiotic progression", "Topaz1 (Testis and Ovary-specific PAZ domain gene 1) is a germ cell specific gene highly conserved in vertebrates", "Topaz1 is supposed to have a role during gametogenesis and may be involved in the piRNA pathway and contribute to silencing of transposable elements and maintenance of genome integrity", "TOPAZ1, a novel germ cell-specific expressed gene conserved during evolution across vertebrates" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26358182", "http://www.ncbi.nlm.nih.gov/pubmed/22069478" ]

[]

[ "http://www.uniprot.org/uniprot/TOPZ1_BOVIN", "http://www.uniprot.org/uniprot/TOPZ1_RAT", "http://www.uniprot.org/uniprot/TOPZ1_MOUSE", "http://www.uniprot.org/uniprot/TOPZ1_MACFA", "http://www.uniprot.org/uniprot/TOPZ1_CALJA", "http://www.uniprot.org/uniprot/TOPZ1_MACMU", "http://www.uniprot.org/uniprot/TOPZ1_SHEEP", "http://www.uniprot.org/uniprot/TOPZ1_HUMAN" ]

[ "Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common symptoms of this condition are:\n1) acute hemolysis, \n2) chronic hemolysis, \n3) neonatal hyperbilirubinemia." ]

[ "acute hemolysis", "chronic hemolysis", "neonatal hyperbilirubinemia" ]

[ "Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed.", "Red blood cells carry oxygen in the body and Glucose-6-Phosphate Dehydrogenase protects these cells from oxidative chemicals. If there is a lack of Glucose-6-Phosphate Dehydrogenase, red blood cells can go acute hemolysis. Convulsion is a rare presentation for acute hemolysis due to Glucose-6-Phosphate Dehydrogenase deficiency. ", "By far the most common form worldwide is the Glucose-6-phosphate deficiency. In the most frequent variants of this disease hemolysis occurs only during stress, imposed for example by infection, \"oxidative\" drugs or after ingestion of fava beans. The most serious clinical complication of the Glucose-6-phosphate deficiency is the rarely observed neonatal icterus. Some enzyme variants can cause chronic hemolysis which is described as chronic nonsperocytic hemolytic anemia. ", "One limitation of primaquine is that, at certain doses, primaquine can cause hemolytic anemia in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDd)", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common human enzymopathy that affects cellular redox status and may lower flux into nonoxidative pathways of glucose metabolism", "The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother.", "The authors of this article make 5 particular recommendations: (1) Anyone suspected of G6PD deficiency should be screened; (2) exposure to oxidative stressors in these individuals should be avoided; (3) these patients should be informed of risks along with signs and symptoms of an acute hemolytic crisis; (4) the clinician should be able to identify both laboratory and clinical signs of hemolysis; and finally, (5) if an acute hemolytic crisis is identified, the patient should be admitted for close observation and care.", "None of the patients with or without G6PD deficiency showed symptoms, signs, or laboratory findings indicating hemolysis before administration of the drug and 4 days thereafter.", "Kinetic and electrophoretic properties of 230--300 fold purified preparations of glucose-6-phosphate dehydrogenase (G6PD) from red cells of donors and patients with acute drug hemolytic anemia due to G6PD deficiency were studied.", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom.", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic defect that can cause hemolytic crisis.", "However, its use is contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency (risk for haemolytic anaemia).", "The role of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is controversial.", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by a mutation in the G6PD gene on Xq28.", "Antiplatelet and invasive treatment in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency and acute coronary syndrome. The safety of aspirin." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24865682", "http://www.ncbi.nlm.nih.gov/pubmed/24372186", "http://www.ncbi.nlm.nih.gov/pubmed/11233775", "http://www.ncbi.nlm.nih.gov/pubmed/20684792", "http://www.ncbi.nlm.nih.gov/pubmed/21336800", "http://www.ncbi.nlm.nih.gov/pubmed/16450734", "http://www.ncbi.nlm.nih.gov/pubmed/19086137", "http://www.ncbi.nlm.nih.gov/pubmed/25079187", "http://www.ncbi.nlm.nih.gov/pubmed/25116429", "http://www.ncbi.nlm.nih.gov/pubmed/25949934", "http://www.ncbi.nlm.nih.gov/pubmed/23188", "http://www.ncbi.nlm.nih.gov/pubmed/21302115", "http://www.ncbi.nlm.nih.gov/pubmed/23961874", "http://www.ncbi.nlm.nih.gov/pubmed/23640458", "http://www.ncbi.nlm.nih.gov/pubmed/10745013", "http://www.ncbi.nlm.nih.gov/pubmed/24891465", "http://www.ncbi.nlm.nih.gov/pubmed/18094574", "http://www.ncbi.nlm.nih.gov/pubmed/21784438", "http://www.ncbi.nlm.nih.gov/pubmed/12737943", "http://www.ncbi.nlm.nih.gov/pubmed/26275698", "http://www.ncbi.nlm.nih.gov/pubmed/22829586", "http://www.ncbi.nlm.nih.gov/pubmed/24636884", "http://www.ncbi.nlm.nih.gov/pubmed/18450407", "http://www.ncbi.nlm.nih.gov/pubmed/11271380", "http://www.ncbi.nlm.nih.gov/pubmed/26840990", "http://www.ncbi.nlm.nih.gov/pubmed/20194698", "http://www.ncbi.nlm.nih.gov/pubmed/9088998", "http://www.ncbi.nlm.nih.gov/pubmed/10698963", "http://www.ncbi.nlm.nih.gov/pubmed/25807896", "http://www.ncbi.nlm.nih.gov/pubmed/22139979", "http://www.ncbi.nlm.nih.gov/pubmed/11793482", "http://www.ncbi.nlm.nih.gov/pubmed/23874768", "http://www.ncbi.nlm.nih.gov/pubmed/11261779", "http://www.ncbi.nlm.nih.gov/pubmed/10980404", "http://www.ncbi.nlm.nih.gov/pubmed/750548", "http://www.ncbi.nlm.nih.gov/pubmed/24711919", "http://www.ncbi.nlm.nih.gov/pubmed/20065266", "http://www.ncbi.nlm.nih.gov/pubmed/19769422", "http://www.ncbi.nlm.nih.gov/pubmed/11842483" ]

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[ "http://www.uniprot.org/uniprot/G6PD_BUCAI", "http://www.disease-ontology.org/api/metadata/DOID:2862", "http://www.uniprot.org/uniprot/G6PD_CERCA", "http://www.uniprot.org/uniprot/G6PD_CRIGR", "http://www.uniprot.org/uniprot/G6PD_ECOLI", "http://www.uniprot.org/uniprot/G6PD_EMENI", "http://www.uniprot.org/uniprot/G6PD_BUCAP", "http://www.uniprot.org/uniprot/G6PD_HUMAN", "http://www.uniprot.org/uniprot/G6PD_ZYMMO", "http://www.uniprot.org/uniprot/G6PD_MACRO", "http://amigo.geneontology.org/amigo/term/GO:0004345", "http://www.uniprot.org/uniprot/G6PD_ENCCU", "http://www.uniprot.org/uniprot/G6PD_TAKRU", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005954", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005955", "http://www.uniprot.org/uniprot/G6PD_HAEIN", "http://www.uniprot.org/uniprot/G6PD_CYBJA", "http://www.uniprot.org/uniprot/G6PD_ECO57", "http://www.uniprot.org/uniprot/G6PD_DIDVI", "http://www.uniprot.org/uniprot/G6PD_AGGAC", "http://www.uniprot.org/uniprot/G6PD_HELPY", "http://www.uniprot.org/uniprot/G6PD_BOSIN", "http://www.uniprot.org/uniprot/G6PD_GLUOX", "http://www.uniprot.org/uniprot/G6PD_HELPJ", "http://www.uniprot.org/uniprot/G6PD_NOSP7" ]

[ "Yes, the gorilla genome has been sequenced." ]

[ "yes" ]

[ "Starting with human, chimpanzee, gorilla, and orangutan genomes, our software generated an exhaustive data set of 292 ALs (∼1 kb each) in ∼3 h. ", "We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm", "Here we present the assembly and analysis of a genome sequence for the western lowland gorilla, and compare the whole genomes of all extant great ape genera.", "DNA sequencing reveals that the genomes of the human, gorilla and chimpanzee share more than 98% homology." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/11592477", "http://www.ncbi.nlm.nih.gov/pubmed/27034376", "http://www.ncbi.nlm.nih.gov/pubmed/22398555", "http://www.ncbi.nlm.nih.gov/pubmed/27435933" ]

[]

[]

[ "Yes. Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation." ]

[ "yes" ]

[ "Vemurafenib in patients with BRAF(V600E)-positive metastatic or unresectable papillary thyroid cancer refractory to radioactive iodine: a non-randomised, multicentre, open-label, phase 2 trial.", "Vemurafenib, an oncogenic BRAF kinase inhibitor approved for BRAF-positive melanoma, showed clinical benefit in three patients with BRAF(V600E)-positive papillary thyroid cancer in a phase 1 trial.", "INTERPRETATION: Vemurafenib showed antitumour activity in patients with progressive, BRAF(V600E)-positive papillary thyroid cancer refractory to radioactive iodine who had never been treated with a multikinase inhibitor. ", "CONTEXT: Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.", "Efficacy and tolerability of vemurafenib in patients with BRAF(V600E) -positive papillary thyroid cancer: M.D. Anderson Cancer Center off label experience.", "CONCLUSIONS: Vemurafenib is a potentially effective and well-tolerated treatment strategy in patients with advanced PTC harboring the BRAF(V600E) mutation.", "The US Food and Drug Administration-approved BRAF inhibitors, vemurafenib and dabrafenib, have demonstrated superior efficacy in patients with BRAF-mutant melanomas but have limited efficacy in BRAF-mutant colorectal cancer. Little is known at this time regarding BRAF inhibitors in thyroid cancer. Initial reports in patients with progressive, radioactive iodine-refractory BRAF-mutant papillary thyroid cancer suggest response rates of approximately 30-40%.", "Use of vemurafenib in anaplastic thyroid carcinoma: a case report.", "Finally, we found that propranolol can amplify the cytotoxicity of vemurafenib and sensitize thyroid cancer cells to cytotoxic effect of vemurafenib.", "CONTEXT: Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.OBJECTIVE: To determine the efficacy and safety of vemurafenib when used outside of a clinical trial.DESIGN: A retrospective review at MD Anderson Cancer Center.METHODS: The best responses were evaluated using RECIST v1.1.", "Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.To determine the efficacy and safety of vemurafenib when used outside of a clinical trial.A retrospective review at MD Anderson Cancer Center.The best responses were evaluated using RECIST v1.1", "CONTEXT: Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.OBJECTIVE: To determine the efficacy and safety of vemurafenib when used outside of a clinical trial.DESIGN: A retrospective review at MD Anderson Cancer Center.METHODS: The best responses were evaluated using RECIST v1.1. ", "Finally, we found that propranolol can amplify the cytotoxicity of vemurafenib and sensitize thyroid cancer cells to cytotoxic effect of vemurafenib.", "Metformin or rapamycin adjuvant treatment may provide clinical benefits with minimal side effects to BRAFV600E-positive advanced thyroid cancer patients treated with vemurafenib.", "Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.To determine the efficacy and safety of vemurafenib when used outside of a clinical trial.A retrospective review at MD Anderson Cancer Center.The best responses were evaluated using RECIST v1.1.", "Our data demonstrate that vemurafenib induces ER stress response-mediated autophagy in thyroid cancer and autophagy inhibition may be a beneficial strategy to sensitize BRAF-mutant thyroid cancer to vemurafenib..", "Combination of vemurafenib and metformin decreased cell viability and increased apoptosis in both BCPAP papillary thyroid cancer cells and 8505c anaplastic thyroid cancer cells.", "Targeting autophagy sensitizes BRAF-mutant thyroid cancer to vemurafenib.", "Propranolol sensitizes thyroid cancer cells to cytotoxic effect of vemurafenib.", "mTOR inhibitors sensitize thyroid cancer cells to cytotoxic effect of vemurafenib.", "Vemurafenib induced a high level of autophagy in BRAF-mutant thyroid cancer cells." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27460442", "http://www.ncbi.nlm.nih.gov/pubmed/27554612", "http://www.ncbi.nlm.nih.gov/pubmed/27754804", "http://www.ncbi.nlm.nih.gov/pubmed/24987354", "http://www.ncbi.nlm.nih.gov/pubmed/23489023", "http://www.ncbi.nlm.nih.gov/pubmed/26751190", "http://www.ncbi.nlm.nih.gov/pubmed/27127178", "http://www.ncbi.nlm.nih.gov/pubmed/26735176", "http://www.ncbi.nlm.nih.gov/pubmed/25353071", "http://www.ncbi.nlm.nih.gov/pubmed/25467940", "http://www.ncbi.nlm.nih.gov/pubmed/26284586", "http://www.ncbi.nlm.nih.gov/pubmed/22649416", "http://www.ncbi.nlm.nih.gov/pubmed/26176686", "http://www.ncbi.nlm.nih.gov/pubmed/26636651", "http://www.ncbi.nlm.nih.gov/pubmed/24262022", "http://www.ncbi.nlm.nih.gov/pubmed/27432558", "http://www.ncbi.nlm.nih.gov/pubmed/24756795" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:3963", "http://www.disease-ontology.org/api/metadata/DOID:1781", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013964" ]

[ "Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS." ]

[ "no" ]

[ "Over the years, however, growing evidence from clinical, pathological and genetic findings has suggested that ALS and FTD belong to the same clinic-pathological spectrum disorder. This concept has been further supported by the identification of the most common genetic cause for both diseases, an aberrantly expanded hexanucleotide repeat GGGGCC/ CCCCGG sequence located in a non-coding region of the gene C9orf72.", "Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS.", "In this article, we will review the brief characterizations of the C9ORF72 gene, the expansion mutations, the related disorders, and their features, followed by a discussion of the deficiency knowledge of C9ORF72 mutations.", "Mutations in the C9ORF72 gene may be a major cause not only of frontotemporal dementia with motor neuron disease but also of late onset psychosis.", "Frontotemporal lobar degeneration (FTLD) is a genetically heterogenous syndrome and has been associated most recently with a hexanucleotide repeat expansion within the C9ORF72 gene.", "An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration associated with TDP-43 pathology (FTLD-TDP).", "Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.", "There was, as expected, a significant association between C9ORF72 mutations and presence of motor neuron disease.", "Expansion of a hexanucleotide repeat in the C9ORF72 gene has been identified as the most common pathogenic mutation in families with autosomal dominant frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis.", "C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.", "Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both neurodegenerative diseases.", "studies recently identified a GGGGCC hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).", "GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene was recently identified as an important cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Caucasian populations." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26303227", "http://www.ncbi.nlm.nih.gov/pubmed/24521566", "http://www.ncbi.nlm.nih.gov/pubmed/27632209", "http://www.ncbi.nlm.nih.gov/pubmed/22892647", "http://www.ncbi.nlm.nih.gov/pubmed/22300873", "http://www.ncbi.nlm.nih.gov/pubmed/22366791", "http://www.ncbi.nlm.nih.gov/pubmed/24442578", "http://www.ncbi.nlm.nih.gov/pubmed/23934648", "http://www.ncbi.nlm.nih.gov/pubmed/27619540", "http://www.ncbi.nlm.nih.gov/pubmed/22673113", "http://www.ncbi.nlm.nih.gov/pubmed/23053135", "http://www.ncbi.nlm.nih.gov/pubmed/24064469" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012162", "http://www.disease-ontology.org/api/metadata/DOID:4448", "http://www.disease-ontology.org/api/metadata/DOID:10871", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D057135", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008268", "http://www.disease-ontology.org/api/metadata/DOID:14245", "http://www.disease-ontology.org/api/metadata/DOID:8466" ]

[ "The Genome 10K Project was established in 2009 by a consortium of biologists and genome scientists determined to facilitate the sequencing and analysis of the complete genomes of 10,000 vertebrate species." ]

[]

[ "The Genome 10K Project was established in 2009 by a consortium of biologists and genome scientists determined to facilitate the sequencing and analysis of the complete genomes of 10,000 vertebrate species.", "The Genome 10K project aims to sequence the genomes of 10,000 vertebrates, representing approximately one genome for each vertebrate genus" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25689317", "http://www.ncbi.nlm.nih.gov/pubmed/22897955" ]

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[]

[ "In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. This isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA transcript.", "A transcriptional network has been reported, in which PU.1 positively regulates GATA-1 expression in mast cell development.", "In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation.", "Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development.", "Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. This isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA transcript. Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation. ", "Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s." ]

[ "PU.1" ]

[ "Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s.", "In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. ", "This isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA transcript.", "Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation.", "Novel combinatorial interactions of GATA-1, PU.1, and C/EBPepsilon isoforms regulate transcription of the gene encoding eosinophil granule major basic protein.", "Furthermore, we observe that in PU.1(-/-) fetal liver cells, low levels of the IE GATA-1 isoform is expressed, but the variant IB isoform is absent.", "Our findings identify novel combinatorial protein-protein interactions for GATA-1, PU.1, and C/EBPepsilon isoforms in eosinophil gene transcription that include GATA-1/PU.1 synergy and repressor activity for C/EBPepsilon(27).." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/12202480", "http://www.ncbi.nlm.nih.gov/pubmed/24453067", "http://www.ncbi.nlm.nih.gov/pubmed/20304827" ]

[]

[]

[ "MIRA-seq is a reliable, genome-scale DNA methylation analysis platform for scoring DNA methylation differences at CpG-rich genomic regions. The method is not limited by primer or probe design and is cost effective." ]

[]

[ "MIRA-seq for DNA methylation analysis of CpG islands.", "MIRA-seq is a reliable, genome-scale DNA methylation analysis platform for scoring DNA methylation differences at CpG-rich genomic regions. The method is not limited by primer or probe design and is cost effective.", "Using MIRA-seq, we have characterized the DNA methylome of metastatic melanoma and normal melanocytes.", "Global gene expression was measured by RNA-Seq, while an epigenetic basis for expression differences was examined by methylated CpG island recovery assay sequencing (MIRA-Seq) analysis.", "Global gene expression was measured by RNA-Seq, while an epigenetic basis for expression differences was examined by methylated CpG island recovery assay sequencing (MIRA-Seq) analysis.", "MIRA-seq for DNA methylation analysis of CpG islands.", "MIRA-seq is a reliable, genome-scale DNA methylation analysis platform for scoring DNA methylation differences at CpG-rich genomic regions.", "Despite extensive breed differences in the transcriptome, MIRA-Seq unveiled relatively similar patterns of genome-wide DNA methylation between breeds, with an overall hypomethylation of gene promoters.", "Methylated CpG island recovery assay sequencing (MIRA-Seq) revealed numerous methylation peaks spread across the genome, combined with an overall hypomethylation of gene promoter regions, and a remarkable similarity, except for 20 regions along the genome, between the fibroblasts collected at the two ages from the same animals." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25881900", "http://www.ncbi.nlm.nih.gov/pubmed/26384656", "http://www.ncbi.nlm.nih.gov/pubmed/27009155", "http://www.ncbi.nlm.nih.gov/pubmed/25623529" ]

[]

[ "http://amigo.geneontology.org/amigo/term/GO:1905642", "http://amigo.geneontology.org/amigo/term/GO:0044029", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019175", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018899", "http://amigo.geneontology.org/amigo/term/GO:0044027", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000070593", "http://amigo.geneontology.org/amigo/term/GO:0044728" ]

[ "Investigation of chromosome folding in mutants confirms roles for RSC, \"gene looping\" factor Ssu72, Mediator, H3K56 acetyltransferase Rtt109, and the N-terminal tail of H4 in folding of the yeast genome. The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP. We propose a model for RNAP II transcription in which promoter and terminator regions are juxtaposed, and that the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. The first 300 amino acids of Pta1 are sufficient for interactions with Ssu72, which is needed for pre-mRNA cleavage. ", "In RNAP II transcription, promoter and terminator regions are juxtaposed and the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. These interactions are transcription-dependent, require the Ssu72 and Pta1 components of the CPF 3'-end processing complex, and require the phosphatase activity of Ssu72.", "tfiib crosslinks to both the promoter and terminator regions of the pma1 and blm10 genes, and its association with the terminator, but not the promoter, is adversely affected by e62k and by depletion of the ssu72 component of the cpf 3' end processing complex, and is independent of tbp.", "Investigation of chromosome folding in mutants confirms roles for RSC, \"gene looping\" factor Ssu72, Mediator, H3K56 acetyltransferase Rtt109, and the N-terminal tail of H4 in folding of the yeast genome. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP. We propose a model for RNAP II transcription in which promoter and terminator regions are juxtaposed, and that the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing These interactions are transcription-dependent, require the Ssu72 and Pta1 components of the CPF 3'-end processing complex, and require the phosphatase activity of Ssu72. Furthermore, different regions of Pta1 interact with the CPF subunits Ssu72, Pti1, and Ysh1, supporting the idea that Pta1 acts as a scaffold to organize CPF.", "The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing" ]

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[ "Investigation of chromosome folding in mutants confirms roles for RSC, \"gene looping\" factor Ssu72, Mediator, H3K56 acetyltransferase Rtt109, and the N-terminal tail of H4 in folding of the yeast genome.", "Furthermore, different regions of Pta1 interact with the CPF subunits Ssu72, Pti1, and Ysh1, supporting the idea that Pta1 acts as a scaffold to organize CPF.", "The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing", "The first 300 amino acids of Pta1 are sufficient for interactions with Ssu72, which is needed for pre-mRNA cleavage. ", "These findings suggest that the amino terminus of Pta1 has an inhibitory effect and that this effect can be neutralized through the interaction with Ssu72.", "TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP.", " These interactions are transcription-dependent, require the Ssu72 and Pta1 components of the CPF 3'-end processing complex, and require the phosphatase activity of Ssu72.", "We propose a model for RNAP II transcription in which promoter and terminator regions are juxtaposed, and that the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation.", "The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing.", "The pta1-Delta75 mutant is defective for snoRNA termination, RNA polymerase II C-terminal domain Ser5-P dephosphorylation, and gene looping but is fully functional for mRNA 3'-end processing. ", "We conclude that Swd2.2 opposes condensin-mediated chromosome condensation by facilitating the function of the two CPF-associated phosphatases PP1 and Ssu72.", "Based on the interactions of Ssu72 and Sub1 with both the Pta1 of CPF and the TFIIB component of the initiation complex, we present a model describing how these novel connections between the transcription and 3' end processing machineries might facilitate transitions in the RNAP II transcription cycle.", "By the degron-mediated depletion of Pta1, we show that the removal of this essential region leads to a loss of Ssu72, yet surprisingly, in vitro cleavage and polyadenylation remain efficient.", "The pta1-Delta75 mutant is defective for snoRNA termination, RNA polymerase II C-terminal domain Ser5-P dephosphorylation, and gene looping but is fully functional for mRNA 3'-end processing." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24945319", "http://www.ncbi.nlm.nih.gov/pubmed/19188448", "http://www.ncbi.nlm.nih.gov/pubmed/17803944", "http://www.ncbi.nlm.nih.gov/pubmed/16319194", "http://www.ncbi.nlm.nih.gov/pubmed/26119342", "http://www.ncbi.nlm.nih.gov/pubmed/12704082" ]

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[ "No, The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database)." ]

[ "no" ]

[ "The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database).", "The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum.", "By March 2012, the database contained in excess of 123,600 different lesions (HGMD Professional release 2012.1) detected in 4,514 different nuclear genes, with new entries" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22948725", "http://www.ncbi.nlm.nih.gov/pubmed/20569258", "http://www.ncbi.nlm.nih.gov/pubmed/24077912" ]

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[ "Peptide aptamers are artificial short peptides which are able to specifically bind to defined functional domains, track, and inhibit a given target molecule with high affinity, even molecules with poor immunogenicity or high toxicity. They represent a remarkable alternative to antibodies in many different applications." ]

[]

[ "Peptide aptamers: The versatile role of specific protein function inhibitors in plant biotechnology.", " These artificial short peptides are able to specifically bind, track, and inhibit a given target molecule with high affinity, even molecules with poor immunogenicity or high toxicity, and represent a remarkable alternative to antibodies in many different applications. ", "To inhibit the oncogenic action of Stat3 in tumor cells, we have selected short peptides, so-called peptide aptamers, which specifically interact with defined functional domains of this transcription factor. ", "Aptasensors utilize aptamers as bioreceptors. Aptamers are highly efficient, have a high specificity and are reusable. Within the biosensor the aptamers are immobilized to maximize their access to target molecules. Knowledge of the orientation and location of the aptamer and peptide during binding could be gained through computational modeling. ", "Understanding orientation and location of the binding region for a peptide-aptamer complex is critical in their biosensor applicability.", " Our study clearly demonstrates the ability of MD simulations to obtain molecular insights for peptide-aptamer binding, and to provide details on the orientation and location of binding between the peptide-aptamer that can be instrumental in biosensor development.", "Peptide aptamers are artificial short peptides that potentially interfere with the biological roles of their target proteins; however, this technology has not yet been applied to plant functional genomics.", "To extend such strategies we selected peptide aptamers binding to PrP from a combinatorial peptide library presented on the Escherichia coli thioredoxin A (trxA) protein as a scaffold.", "These peptide aptamers retained their binding properties to PrPc and, depending on peptide sequence and C-terminal modification, interfered with endogenous PrPSc conversion upon expression in prion-infected cells.", "Binding to the nonfarnesylated peptide was at least 10-fold weaker, showing that the aptamers can recognize the hydrophobic farnesyl moiety.", "Peptide aptamers: exchange of the thioredoxin-A scaffold by alternative platform proteins and its influence on target protein binding.", "Typically, peptide aptamers are generated by screening a randomized peptide expression library, displayed from the Escherichia coli thioredoxin A (TrxA) protein.", "Peptide aptamers define distinct EB1- and EB3-binding motifs and interfere with microtubule dynamics.", "Reverse analysis with peptide aptamers involves isolating aptamers that interact with a specific protein and monitoring the resulting aptamer-induced phenotype.", "Peptide aptamers are combinatorial protein reagents that bind to targets with a high specificity and a strong affinity thus providing a molecular tool kit for modulating the function of their targets in vivo.Here we report the isolation of a peptide aptamer named swiggle that interacts with the very short (21 amino acid long) intracellular domain of membrane type 1-metalloproteinase (MT1-MMP), a key cell surface protease involved in numerous and crucial physiological and pathological cellular events", "Peptide aptamers are simple structures, often made up of a single-variable peptide loop constrained within a constant scaffold protein", "Peptide aptamers are small peptide sequences that have been selected to recognise a predetermined target protein domain and are potentially able to interfere with its function", "Aptamers, including DNA, RNA and peptide aptamers, are a group of promising recognition units that can specifically bind to target molecules and cells", "Aptamers are a group of molecules, which can specifically bind, track, and inhibit target molecules, comprising DNA aptamers, RNA aptamers, and peptide aptamers", "Peptide aptamers: The versatile role of specific protein function inhibitors in plant biotechnology", "Peptide aptamers are small proteins containing a randomized peptide sequence embedded into a stable protein scaffold, such as Thioredoxin", "Peptide aptamers can subsequently be used to guide the discovery of small molecule drugs specific for these molecular surfaces.Here, we present a high-throughput screening assay that identifies small molecules that displace interactions between proteins and their cognate peptide aptamers", "These peptide aptamers are target-specific peptides expressed within a protein scaffold engineered from the human protease inhibitor stefin A. The scaffold provides stability to the inserted peptides and increases their binding affinity owing to the resulting three-dimensional constraints", "Isolation of Peptide aptamers to target protein function.", "Peptide aptamers with binding specificity for the intracellular domain of the ErbB2 receptor interfere with AKT signaling and sensitize breast cancer cells to Taxol.", "Peptides and aptamers targeting HSP70: a novel approach for anticancer chemotherapy.", "Peptide aptamers targeting the hepatitis B virus core protein: a new class of molecules with antiviral activity.", "These data highlight the utility of peptide aptamers to identify novel binding interfaces and highlight a role for MAP1B in DAPK-1-dependent signaling in autophagy and membrane blebbing.", "Therapeutic application depends on binding specificities and affinities, as well as on the production and purification characteristics of the peptide aptamers and their delivery into cells.", "While antibodies are known to recognize the sequence and conformation of protein surface features (epitopes), very little is known about the precise interactions between aptamers and their epitopes.", "Monomeric recombinant peptide aptamers are required for efficient intracellular uptake and target inhibition.", "The use of small peptide aptamers to competitively inhibit protein interaction and function is becoming increasingly recognized as a powerful technique.", "For the first time, we show that trxA-based peptide aptamers can be targeted to the secretory pathway, thereby not losing the affinity for their target protein.", "Moreover, the aptamers appeared to be able to bind peptides with different solution conformations, implying an induced fit mechanism for binding.", "Peptide aptamers are small proteins containing a randomized peptide sequence embedded into a stable protein scaffold, such as Thioredoxin.", "Peptide aptamers are the newest in the class of \"genetic\" agents that aid in the analysis of cellular processes.", "Peptide aptamers: The versatile role of specific protein function inhibitors in plant biotechnology.", "Here we present a detailed protocol for the creation of a peptide aptamer plasmid library, selection of peptide aptamers using the LiRP scaffold in a yeast two-hybrid system, and the screening of those peptide aptamers for a ligand-regulated interaction.." ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D052158", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012380", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010455" ]

[ "The clinical symptoms of left ventricular noncompaction are:\n1) heart failure, \n2) systemic thromboembolic events, \n3) ventricular arrhythmias and\n4) sudden cardiac death." ]

[ "heart failure", "systemic thromboembolic events", "systemic thromboembolism", "ventricular arrhythmias", "sudden cardiac death" ]

[ "Perioperative management of the patient with LVNC might be challenging due to the clinical symptoms of heart failure, systemic thromboembolic events, and fatal left ventricular arrhythmias.", "Left ventricular noncompaction cardiomyopathy is a rare type of congenital cardiomyopathy characterized by prematurely arrested compaction of the endocardial and myocardial fibers and the progressive deterioration of left ventricular contractility. ", "Clinical features associated with LVNC vary in asymptomatic and symptomatic patients, and include the potential for heart failure, conduction defects (eg, left bundle branch block), supraventricular and ventricular arrhythmias, thromboembolic events, and sudden cardiac death. ", "The clinical presentations are variable ranging from asymptomatic patients to patients who develop ventricular arrhythmias, thromboembolism, heart failure, and sudden cardiac death. ", "The clinical presentation and the natural history of LVNC are highly variable, ranging from no symptoms to congestive heart failure, arrhythmias, and systemic thromboemboli. ", "The clinical manifestations of the disease are variable, ranging from no symptoms to signs of heart failure, systemic emboli, and ventricular arrhythmias. ", "We describe the case of a 62-year-old woman who presented with symptoms of heart failure secondary to left ventricular noncompaction.", "Multiple left ventricular thrombi in a patient with left ventricular noncompaction.", "We present three children with myocardial noncompaction: one male with isolated left ventricular noncompaction, another with right ventricular noncompaction and dysplastic tricuspid valve, and the last with left ventricular noncompaction, ventricular septal defect and coarctation of aorta, to stress especially the different clinical forms of the disorder and the importance of early diagnosis, as it may result in a fatal outcome.", "Left ventricular noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death.We retrospectively reviewed all children diagnosed with left ventricular noncompaction at Texas Childrens Hospital from January 1990 to January 2009", "Left ventricular noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality", "We describe the case of a 62-year-old woman who presented with symptoms of heart failure secondary to left ventricular noncompaction. ", "Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias.", "Multiple left ventricular thrombi in a patient with left ventricular noncompaction.", "Left ventricular noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death.", "Clinical symptoms include signs of left ventricular systolic dysfunction even to the point of heart failure, ventricular arrhythmias, and embolic events." ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016277", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018754", "http://www.disease-ontology.org/api/metadata/DOID:0060480", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018487" ]

[ "Glasgow coma sore is used to determine injury severity on admission to a hospital emergency department or by the duration of unconsciousness." ]

[]

[ " Injury severity was determined by the Glasgow Coma Scale (GCS) score on admission or by the duration of unconsciousness", "Severity analysis was based on the Glasgow Coma Scale and Injury Severity Scor", "The strongest correlations were found between the Glasgow coma score and quality of life (r = 0.236, P = 0.0001)", "By accepting the Glasgow Coma Scale as a gold standard for classification of the level of coma, we can confirm satisfactory measuring qualities for the Vienna Vigilance Score.", "Our aim in this study was to assess whether the new Glasgow Coma Scale, Age, and Systolic Blood Pressure (GAP) scoring system, which is a modification of the Mechanism, Glasgow Coma Scale, Age, and Arterial Pressure (MGAP) scoring system, better predicts in-hospital mortality and can be applied more easily than previous trauma scores among trauma patients in the emergency department" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25834958", "http://www.ncbi.nlm.nih.gov/pubmed/26295284", "http://www.ncbi.nlm.nih.gov/pubmed/23022643", "http://www.ncbi.nlm.nih.gov/pubmed/11332457" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015600" ]

[ "Andexanet alfa is a specific reversal agent for Factor Xa inhibitors.", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is a specific reversal agent for Factor Xa inhibitors. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. ", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is a specific reversal agent for Factor Xa inhibitors. In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. ", "andexanet alfa is a factor xa (fxa) decoy that binds to direct and indirect inhibitors in phase iii trials in healthy volunteers , andexanet alfa reduced anti-fxa activity by more than 90% , reduced the concentration of unbound direct fxa inhibitor , and inhibited thrombin generation . andexanet is an antidote targeted to reverse the oral direct factor xa inhibitors as well as the indirect inhibitor enoxaparin. . ", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. In Phase III trials in healthy volunteers, andexanet alfa reduced anti-FXa activity by more than 90%, reduced the concentration of unbound direct FXa inhibitor, and inhibited thrombin generation. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. ", "Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban). Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. Andexanet alfa (AnXa), a recombinant modified FXa, is an investigational specific antidote for FXa inhibitors. Antidotes that experimentally reverse the anti-coagulant effect of dabigatran (Idarucizumab; BI 655075; Boehringer Ingelheim); of rivaroxaban, apixaban, or edoxaban (Andexanet alfa, r-Antidote, PRT064445; Portola Pharmaceuticals) or of all DOACs (Aripazine, PER-977, ciraparantag; Perosphere Inc.) are discussed. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa (PRT064445), a specific reversal agent against factor Xa inhibitors, showed a complete reversal of anticoagulant activity of apixaban and rivaroxaban within minutes after administration without adverse effects in two recently completed parallel phase III trials ANNEXA-A and ANNEXA-R respectively.", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly.", "Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Andexanet alfa is a factor Xa (FXa) decoy that binds to direct and indirect FXa inhibitors." ]

[ "Factor Xa", "Xa" ]

[ "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.", "Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly.", "Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation.", "Andexanet alfa is a specific reversal agent for Factor Xa inhibitors.", "In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. ", "Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin.", "Andexanet alfa is a factor Xa (FXa) decoy that binds to direct and indirect FXa inhibitors. In Phase III trials in healthy volunteers, andexanet alfa reduced anti-FXa activity by more than 90%, reduced the concentration of unbound direct FXa inhibitor, and inhibited thrombin generation. ", "Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.", "Recent results from phase 3/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors).", "176 Andexanet Alfa: An Investigational Universal Antidote for Reversal of Anticoagulation of Factor Xa Inhibitors in Healthy Human Volunteers.", "Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin.", "Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.", "Andexanet alfa (AnXa), a recombinant modified FXa, is an investigational specific antidote for FXa inhibitors.", "With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors.", "With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors.", "Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity", "Specific reversal agents are currently under development (idarucizumab for dabigatran, andexanet alfa for Xa inhibitors, and PER977 for both Xa- and thrombin inhibitors), which will facilitate clinical management of severe bleeding and emergency surgery", "With Idarucizumab and Andexanet Alfa, specific antidotes have been developed against both, direct thrombin inhibitors as well as direct Factor Xa inhibitors. ", "Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban).", "Andexanet alfa (AnXa), a recombinant modified FXa, is an investigational specific antidote for FXa inhibitors.", "Andexanet alfa (PRT064445), a specific reversal agent against factor Xa inhibitors, showed a complete reversal of anticoagulant activity of apixaban and rivaroxaban within minutes after administration without adverse effects in two recently completed parallel phase III trials ANNEXA-A and ANNEXA-R respectively.", "New antidotes are being explored, including a mouse monoclonal antibody to dabigatran; andexanet alfa, a potential universal factor Xa inhibitor reversal agent; and a synthetic small molecule (PER977) that may be effective for the reversal of factor Xa inhibitors and direct thrombin inhibitors.", "Andexanet Alfa for the Reversal of Factor Xa Inhibitor Activity.", "Currently, two potential reversal agents for oral direct factor Xa inhibitors (andexanet alfa and ciraparantag) are at various stages of clinical development.", "176 Andexanet Alfa: An Investigational Universal Antidote for Reversal of Anticoagulation of Factor Xa Inhibitors in Healthy Human Volunteers.", "Recent results from phase 3/4 studies demonstrate efficacy for an antidote to dabigatran (idarucizumab, a monoclonal antibody fragment with specificity for dabigatran) and an antidote to factor Xa inhibitors (andexanet alfa, a recombinant and inactive form of factor Xa that binds inhibitors)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27147456", "http://www.ncbi.nlm.nih.gov/pubmed/26449414", "http://www.ncbi.nlm.nih.gov/pubmed/27082776", "http://www.ncbi.nlm.nih.gov/pubmed/26559317", "http://www.ncbi.nlm.nih.gov/pubmed/27575436", "http://www.ncbi.nlm.nih.gov/pubmed/25516695", "http://www.ncbi.nlm.nih.gov/pubmed/27399455", "http://www.ncbi.nlm.nih.gov/pubmed/25494843", "http://www.ncbi.nlm.nih.gov/pubmed/25816811", "http://www.ncbi.nlm.nih.gov/pubmed/27895055", "http://www.ncbi.nlm.nih.gov/pubmed/27789605", "http://www.ncbi.nlm.nih.gov/pubmed/27659071", "http://www.ncbi.nlm.nih.gov/pubmed/25431993", "http://www.ncbi.nlm.nih.gov/pubmed/26069913", "http://www.ncbi.nlm.nih.gov/pubmed/27913536", "http://www.ncbi.nlm.nih.gov/pubmed/26627486", "http://www.ncbi.nlm.nih.gov/pubmed/26872887", "http://www.ncbi.nlm.nih.gov/pubmed/27697443", "http://www.ncbi.nlm.nih.gov/pubmed/26686866", "http://www.ncbi.nlm.nih.gov/pubmed/26519420", "http://www.ncbi.nlm.nih.gov/pubmed/25387210" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000925", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000931", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019774" ]

[ "Patau syndrome is caused by trisomy 13." ]

[ "Trisome 13" ]

[ "Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly.", "Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype.", "Among full autosomal trisomies, only trisomies of chromosome 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome) are compatible with postnatal survival. ", "We describe the management of the eyelid anomaly associated with Patau syndrome. Trisomy 13 is the genotype of the syndrome's phenotype. ", "This article identifies the causes and manifestations of most of these trisomies: trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). ", "WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13.", "Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13).", "Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011", "To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome.Case-control: cases with each of these syndromes were matched to four controls with Down syndrome from within the same congenital anomaly register and with maternal age within 6 months.Data from 22 EUROCAT congenital anomaly registers in 12 European countries.Diagnoses with observed or (for terminations) predicted year of birth from 1980 to 2005, comprising live births, fetal deaths with gestational age ≥ 20 weeks and terminations after prenatal diagnosis of the anomaly.", "Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare", "WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13. ", "Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). ", "Ocular abnormalities in Patau syndrome (chromosome 13 trisomy syndrome).", "Trisomy 13 (Patau's syndrome): a rare case of survival into adulthood.", "BACKGROUND: Whilst maternal age is an established risk factor for Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), the aetiology and contribution of genetic and environmental factors remains unclear.", "WHS is caused by a deletion of 4p16, while Patau syndrome is caused by trisomy for some or all regions of chromosome 13.", "Patau syndrome, trisomy 13, is the third commonest autosomal trisomy.", "Patau syndrome (trisomy 13) is very rare in live-born babies." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/11885075", "http://www.ncbi.nlm.nih.gov/pubmed/23613355", "http://www.ncbi.nlm.nih.gov/pubmed/17603803", "http://www.ncbi.nlm.nih.gov/pubmed/14506431", "http://www.ncbi.nlm.nih.gov/pubmed/6458983", "http://www.ncbi.nlm.nih.gov/pubmed/18467377", "http://www.ncbi.nlm.nih.gov/pubmed/12762245", "http://www.ncbi.nlm.nih.gov/pubmed/24993362", "http://www.ncbi.nlm.nih.gov/pubmed/18253026", "http://www.ncbi.nlm.nih.gov/pubmed/12393964", "http://www.ncbi.nlm.nih.gov/pubmed/20537076", "http://www.ncbi.nlm.nih.gov/pubmed/19408854", "http://www.ncbi.nlm.nih.gov/pubmed/24564826", "http://www.ncbi.nlm.nih.gov/pubmed/20641042", "http://www.ncbi.nlm.nih.gov/pubmed/23949924", "http://www.ncbi.nlm.nih.gov/pubmed/24340511", "http://www.ncbi.nlm.nih.gov/pubmed/26034714", "http://www.ncbi.nlm.nih.gov/pubmed/2325123", "http://www.ncbi.nlm.nih.gov/pubmed/23622175", "http://www.ncbi.nlm.nih.gov/pubmed/20584846", "http://www.ncbi.nlm.nih.gov/pubmed/25459971", "http://www.ncbi.nlm.nih.gov/pubmed/21344634", "http://www.ncbi.nlm.nih.gov/pubmed/2348978" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002882", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "http://www.disease-ontology.org/api/metadata/DOID:11665" ]

[ "The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. A complex network of genes determines sex in mammals. Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD). SOX9 is one of the genes that play critical roles in male sexual differentiation.", "Thus, SOX9 duplication is the most likely cause for the sex reversal in this case because it plays an important role in male sex determination and differentiation. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY.", "Autosomal XX sex reversal caused by duplication of SOX9. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. Fluorescent in situ hybridization (FISH) with a BAC clone containing the SOX9 gene demonstrated that the SOX9 gene is duplicated on the rearranged chromosome 17. SOX9 duplication linked to intersex in deer. ", "SOX9 duplication can cause XX sex reversal. SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans.", "Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans.", "Autosomal XX sex reversal caused by duplication of SOX9" ]

[ "Autosomal XX sex reversal" ]

[ "Autosomal XX sex reversal caused by duplication of SOX9", "Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal", "We report here evidence supporting that SOX9 duplication can cause XX sex reversal", "Fluorescent in situ hybridization (FISH) with a BAC clone containing the SOX9 gene demonstrated that the SOX9 gene is duplicated on the rearranged chromosome 17", "SOX9 duplication linked to intersex in deer", "Whole genome sequencing and quantitative real-time PCR analyses revealed a triple dose of the SOX9 gene, allowing insights into a new genetic defect in a wild animal", "In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans", "Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.", "Together, these findings implicate a mutation at a sex-determining locus other than SRY and SOX9 as the cause for the XX sex reversal trait in this family.", "Autosomal XX sex reversal caused by duplication of SOX9.", "Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.", "We report here evidence supporting that SOX9 duplication can cause XX sex reversal.", "Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal.", "Duplications of the locus DSS can lead to a failure of testicular development and a duplication of the region containing SOX9 has been implicated in XX sex reversal.", "Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.", "XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/10588843", "http://www.ncbi.nlm.nih.gov/pubmed/18391513", "http://www.ncbi.nlm.nih.gov/pubmed/22678921", "http://www.ncbi.nlm.nih.gov/pubmed/25010117", "http://www.ncbi.nlm.nih.gov/pubmed/24040047", "http://www.ncbi.nlm.nih.gov/pubmed/25077096", "http://www.ncbi.nlm.nih.gov/pubmed/18056774", "http://www.ncbi.nlm.nih.gov/pubmed/11420125" ]

[]

[]

[ "Yes, musclin has been described as a muscle-derived secretory peptide." ]

[ "yes" ]

[ "Musclin is a novel skeletal muscle-derived secretory factor,", "Musclin has been described as a muscle-derived secretory peptide, responsive to insulin in vivo, and inducing insulin resistance in vitro.", "Musclin is a type of muscle-secreted cytokine and its increased gene expression induces insulin resistance in type 2 diabetes. ", "Musclin is a novel skeletal muscle-derived factor found in the signal sequence trap of mouse skeletal muscle cDNAs.", "Musclin is a novel skeletal muscle-derived secretory factor found in the signal sequence trap of mouse skeletal muscle cDNAs. ", "Musclin is a novel skeletal muscle-derived secretory factor that was isolated by our group. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19244276", "http://www.ncbi.nlm.nih.gov/pubmed/26449458", "http://www.ncbi.nlm.nih.gov/pubmed/17189616", "http://www.ncbi.nlm.nih.gov/pubmed/24734231", "http://www.ncbi.nlm.nih.gov/pubmed/23940802" ]

[]

[]

[ "Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents ", "Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents", "Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents. ", "Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents.", "marfan syndrome (ms) is a connective tissue disorder that affects thousands of adolescents ." ]

[ "connective tissue" ]

[ "Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents ", "Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome.", "Marfans syndrome is an Autosomal dominant disorder of the connective tissues resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes.", "Marfan syndrome (MFS) is a systemic disorder of the connective tissue with pleiotropic manifestations due to heterozygous FBN1 mutations and consequent upregulation of TGFβ signaling in affected tissues", "Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling", "Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm formation and arterial dissection", "Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1", "Marfan's syndrome is an autosomal dominant disorder of connective tissue, commonly involving the cardiovascular, ocular, and skeletal systems. ", "Marfan syndrome is an autosomal dominant connective tissue disorder commonly due to mutation of the fibrillin-1 (FBN-1) gene that causes disruption of elastic fibers in large- and medium-size arteries and predisposes to aneurysm formation and arterial dissection. ", "Marfan's syndrome is an autosomal dominant disorder of connective tissue, commonly involving the cardiovascular, ocular, and skeletal systems.", "Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms.", "Marfan's syndrome is an inherited disorder of connective tissue associated with characteristic abnormalities of the skeletal, ocular, and cardiovascular systems.", "Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations.", "The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. ", "Marfan syndrome is an inherited multisystemic connective-tissue disease that is caused by a mutation of the fibrillin-1 gene. ", " Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and other organ systems." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23304566", "http://www.ncbi.nlm.nih.gov/pubmed/26494287", "http://www.ncbi.nlm.nih.gov/pubmed/21723458", "http://www.ncbi.nlm.nih.gov/pubmed/21308160", "http://www.ncbi.nlm.nih.gov/pubmed/17620463", "http://www.ncbi.nlm.nih.gov/pubmed/26272787", "http://www.ncbi.nlm.nih.gov/pubmed/16400220", "http://www.ncbi.nlm.nih.gov/pubmed/14304236", "http://www.ncbi.nlm.nih.gov/pubmed/9401003", "http://www.ncbi.nlm.nih.gov/pubmed/19554831", "http://www.ncbi.nlm.nih.gov/pubmed/8240311", "http://www.ncbi.nlm.nih.gov/pubmed/21866385", "http://www.ncbi.nlm.nih.gov/pubmed/9068910", "http://www.ncbi.nlm.nih.gov/pubmed/9316048", "http://www.ncbi.nlm.nih.gov/pubmed/26281765", "http://www.ncbi.nlm.nih.gov/pubmed/10050736" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008382", "http://www.disease-ontology.org/api/metadata/DOID:14323" ]

[ "Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis.", "Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis. ", "loss of cd28 expression by liver-infiltrating t cells contributes to pathogenesis of primary sclerosing cholangitis." ]

[ "Primary sclerosing cholangitis" ]

[ "Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis.", "Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis", "Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24726754" ]

[]

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[ "No, cutaneous porphyrias are inherited in a dominant (not recessive) pattern." ]

[ "no" ]

[ "Five of the porphyrias are low-penetrance autosomal dominant conditions in which clinical expression results from additional factors that act by increasing demand for haem or by causing an additional decrease in enzyme activity or by a combination of these effects", "Molecular mechanisms of dominant expression in porphyria.", "Variegate porphyria (VP) is an autosomal-dominant disorder that is caused by inheritance of a partial deficiency of the enzyme protoporphyrinogen oxidase (EC 1.3.3.4). It is characterized by cutaneous photosensitivity and/or various neurological manifestations. ", "The acute porphyrias constitute a group of metabolic disorders engaging enzymes in the haem synthetic chain and generally following dominant inheritance patterns." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15868463", "http://www.ncbi.nlm.nih.gov/pubmed/11202049", "http://www.ncbi.nlm.nih.gov/pubmed/12859407" ]

[]

[]

[ "ZMapp is a combination of antibodies for treatment of Ebola virus disease." ]

[ "Ebola virus disease" ]

[ "This includes agents belonging to various therapeutic classes, namely direct antiviral agents (favipiravir and BCX4430), a combination of antibodies (ZMapp), type I interferons, RNA interference-based drugs (TKM-Ebola and AVI-7537), and anticoagulant drugs (rNAPc2). ", "During the latest outbreak of Ebola virus disease in West Africa, monoclonal antibody therapy (e.g., ZMapp) was utilized to treat patients. ", "Recent successes with monoclonal antibody cocktails ZMapp(TM) and MIL77 against Ebola virus (EBOV) infections have reignited interest in antibody-based therapeutics. ", "The human-mouse chimeric monoclonal antibody (mAb) cocktail ZMapp, previously shown to be efficacious in EBOV (variant Kikwit) lethally infected nonhuman primates (NHPs) when administration was initiated up to 5 days, was used in some patients during the outbreak. We show that a two-antibody cocktail, MIL77E, is fully protective in NHPs when administered at 50 mg/kg 3 days after challenge with a lethal dose of EBOV variant Makona, the virus responsible for the ongoing 2014-2015 outbreak, whereas a similar formulation of ZMapp protected two of three NHPs. ", "The growing promise of plant-made biologics is highlighted by the success story of ZMapp™ as a potentially life-saving drug during the Ebola outbreak of 2014-2016. ", "Reversion of advanced Ebola virus disease in nonhuman primates with ZMapp.", "Background Data from studies in nonhuman primates suggest that the triple monoclonal antibody cocktail ZMapp is a promising immune-based treatment for Ebola virus disease (EVD).", "Several patients with Ebola virus disease (EVD) managed in the United States have received ZMapp monoclonal antibodies, TKM-Ebola small interfering RNA, brincidofovir, and/or convalescent plasma as investigational therapeutics.", "Also there is no specific vaccine and treatment for Ebola virus; however, many candidate vaccines and antiviral-drugs such as ZMapp and TKM-Ebola are being developed for Ebola virus disease.", "A Randomized, Controlled Trial of ZMapp for Ebola Virus Infection.", "ELISA and neutralizing antibody assays indicate that ZMapp is cross-reactive with the Guinean variant of Ebola. ", "Going forward, this work now provides a basis for strategic selection of next-generation antibody cocktails against Ebola and related viruses and a model for predicting the impact of ZMapp on potential escape mutations in ongoing or future Ebola outbreaks.", "Some potential therapeutic materials including ZMapp were supplied and the treated people got over the EVD.", "Cocktails of inhibitory monoclonal antibodies (MAbs), such as ZMAb, MB-003, and in particular ZMapp, have demonstrated in animal models some of the most significant therapeutic potential for treating EVD, and in 2014, 15 patients were treated with ZMapp or ZMAb under compassionate-use protocols.", "This review explores some of the more prominent recent advances in the biofarming of viral vaccines and therapies, including the recent use of ZMapp for Ebolavirus infection, and explores some possible future applications of the technology.", "During the latest outbreak of Ebola virus disease in West Africa, monoclonal antibody therapy (e.g., ZMapp) was utilized to treat patients.", "ELISA and neutralizing antibody assays indicate that ZMapp is cross-reactive with the Guinean variant of Ebola.", "Cocktails of inhibitory monoclonal antibodies (MAbs), such as ZMAb, MB-003, and in particular ZMapp, have demonstrated in animal models some of the most significant therapeutic potential for treating EVD, and in 2014, 15 patients were treated with ZMapp or ZMAb under compassionate-use protocols.", "For example, several patients of the present Ebola virus outbreak in West Africa were treated with ZMapp, a cocktail of three monoclonal antibodies which are expressed in Nicotiana benthamiana.", "Reversion of advanced Ebola virus disease in nonhuman primates with ZMapp." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25694097", "http://www.ncbi.nlm.nih.gov/pubmed/25171469", "http://www.ncbi.nlm.nih.gov/pubmed/27274814", "http://www.ncbi.nlm.nih.gov/pubmed/26311869", "http://www.ncbi.nlm.nih.gov/pubmed/25404321", "http://www.ncbi.nlm.nih.gov/pubmed/26962157", "http://www.ncbi.nlm.nih.gov/pubmed/27279622", "http://www.ncbi.nlm.nih.gov/pubmed/25648233", "http://www.ncbi.nlm.nih.gov/pubmed/26798032", "http://www.ncbi.nlm.nih.gov/pubmed/26861827", "http://www.ncbi.nlm.nih.gov/pubmed/27683818", "http://www.ncbi.nlm.nih.gov/pubmed/25465382", "http://www.ncbi.nlm.nih.gov/pubmed/26191408", "http://www.ncbi.nlm.nih.gov/pubmed/26946569", "http://www.ncbi.nlm.nih.gov/pubmed/25414384", "http://www.ncbi.nlm.nih.gov/pubmed/27521366", "http://www.ncbi.nlm.nih.gov/pubmed/25760722", "http://www.ncbi.nlm.nih.gov/pubmed/25648530", "http://www.ncbi.nlm.nih.gov/pubmed/25352204", "http://www.ncbi.nlm.nih.gov/pubmed/27067649", "http://www.ncbi.nlm.nih.gov/pubmed/27676206", "http://www.ncbi.nlm.nih.gov/pubmed/25260583", "http://www.ncbi.nlm.nih.gov/pubmed/27465308", "http://www.ncbi.nlm.nih.gov/pubmed/25387576", "http://www.ncbi.nlm.nih.gov/pubmed/27732819" ]

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[ "Yes, several methylenetetrahydrofolate reductase (MTHFR) gene mutations can cause homocystinuria and hyperhomocysteinemia." ]

[ "yes" ]

[ "Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. ", "Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation.", "At admission, he had significantly elevated plasma and urine levels of total homocysteine, significantly decreased levels of folate in serum and cerebrospinal fluid, and a normal blood concentration of methionine.", "Response to treatment demonstrated B(6)-non-responsive homocystinuria. Molecular study showed compound heterozygous T353 N and D444 N mutations of the cystathionine beta-synthase (CBS) gene, and also a C667T homozygous mutation of the methylenetetrahydrofolate-reductase (MTHFR) gene. ", "Our case is atypical because of the absence of thromboembolism and the mild phenotype, in spite of being B(6)-non-responsive, and the association of a rare compound heterozygous mutation of the CBS gene and also an homozygous mutation of the MTHFR gene.", "Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.", "Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate and homocysteine metabolism. Research performed during the past decade has clarified our understanding of MTHFR deficiencies that cause homocystinuria or mild hyperhomocysteinemia. Our cloning of the MTHFR coding sequence was initially followed by the identification of the first deleterious mutations in MTHFR, in patients with homocystinuria and marked hyperhomocysteinemia.", "Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the regulation of plasma homocysteine levels. MTHFR deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia and presents with highly variable symptoms affecting many organs but predominantly the central nervous system. ", "Some methylenetetrahydrofolate reductase (MTHFR) gene mutations cause hyperhomocysteinemia and homocystinuria.", "Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria.", "Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.", "Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of the MTHFR gene.", "The results of our study render the full-length characterisation of affected alleles in severe homocystinuria and moderate hyperhomocysteinaemia due to MTHFR deficiency and provide a basis for investigating the regulation of the human MTHFR gene.", "Our cloning of the MTHFR coding sequence was initially followed by the identification of the first deleterious mutations in MTHFR, in patients with homocystinuria and marked hyperhomocysteinemia.", "Different MTHFR mutations lead either to severe homocystinuria as a multisystem disorder or to moderate hyperhomocysteinaemia, which is a common risk factor for disorders ranging from cardiovasculopathy to spina bifida.", "We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis.", "On the contrary, thermolabile MTHFR caused by the 677C-->T mutation, was frequently observed among homocystinuria patients, especially among those with thromboembolic complications: three of six homocystinuria patients who had suffered from a thromboembolic event had thermolabile MTHFR.", "We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis.", "Some methylenetetrahydrofolate reductase (MTHFR) gene mutations cause hyperhomocysteinemia and homocystinuria", "We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis", "Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria", "The most common genetic cause of hyperhomocysteinemia is the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene", "The 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinemia, but this polymorphism does not seem to be a risk factor for venous thrombosis", "Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation have been postulated as a possible cause of recurrent miscarriage (RM)", "The 677C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinaemia", "We studied 24 patients with homocystinuria caused by homozygous CBS deficiency from 18 unrelated kindreds for FVL and for the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and investigated their possible interaction in the risk of venous thrombosis. ", "AIM: Some methylenetetrahydrofolate reductase (MTHFR) gene mutations cause hyperhomocysteinemia and homocystinuria. ", "Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.", "Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) with homocystinuria can result in early demise or later-onset neurological impairment, including developmental delay, motor dysfunction, and seizures. ", "Deficiency of 5,10-methylenetetrahydrofolate reductase (MTHFR) leads to deficient remethylation of homocysteine and is one of the causes of homocystinuria. ", "Neurological disturbances have been described in homocystinuria caused by severe MTHFR deficiency. ", "The 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinemia, but this polymorphism does not seem to be a risk factor for venous thrombosis.", "Research performed during the past decade has clarified our understanding of MTHFR deficiencies that cause homocystinuria or mild hyperhomocysteinemia.", "The 677C>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is an important cause of mild hyperhomocysteinaemia.", "The most common genetic cause of hyperhomocysteinemia is the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene.", "Our cloning of the MTHFR coding sequence was initially followed by the identification of the first deleterious mutations in MTHFR, in patients with homocystinuria and marked hyperhomocysteinemia.", "Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.", "Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.", "On the contrary, thermolabile MTHFR caused by the 677C-->T mutation, was frequently observed among homocystinuria patients, especially among those with thromboembolic complications: three of six homocystinuria patients who had suffered from a thromboembolic event had thermolabile MTHFR." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16629766", "http://www.ncbi.nlm.nih.gov/pubmed/27130656", "http://www.ncbi.nlm.nih.gov/pubmed/10980581", "http://www.ncbi.nlm.nih.gov/pubmed/23095199", "http://www.ncbi.nlm.nih.gov/pubmed/10923034", "http://www.ncbi.nlm.nih.gov/pubmed/21626167", "http://www.ncbi.nlm.nih.gov/pubmed/2629632", "http://www.ncbi.nlm.nih.gov/pubmed/17457696", "http://www.ncbi.nlm.nih.gov/pubmed/12673793", "http://www.ncbi.nlm.nih.gov/pubmed/11592438", "http://www.ncbi.nlm.nih.gov/pubmed/9490685", "http://www.ncbi.nlm.nih.gov/pubmed/23533858", "http://www.ncbi.nlm.nih.gov/pubmed/20532821", "http://www.ncbi.nlm.nih.gov/pubmed/9453374", "http://www.ncbi.nlm.nih.gov/pubmed/10679944", "http://www.ncbi.nlm.nih.gov/pubmed/24461181", "http://www.ncbi.nlm.nih.gov/pubmed/14656017", "http://www.ncbi.nlm.nih.gov/pubmed/20236116", "http://www.ncbi.nlm.nih.gov/pubmed/22521626", "http://www.ncbi.nlm.nih.gov/pubmed/9781030", "http://www.ncbi.nlm.nih.gov/pubmed/11181567", "http://www.ncbi.nlm.nih.gov/pubmed/17349292", "http://www.ncbi.nlm.nih.gov/pubmed/8124871" ]

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[ " Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR)", " phosphorylated h2ax (γh2ax) is rapidly concentrated in chromatin domains around dna double-strand breaks (dsbs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress.", "Defective or inefficient DNA double-strand break (DSB) repair results in failure to preserve genomic integrity leading to apoptotic cell death, a hallmark of systemic lupus erythematosus (SLE). Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress.", "The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress. DNA double-strand breaks in heterochromatin elicit fast repair protein recruitment, histone H2AX phosphorylation and relocation to euchromatin", "Histone H2AX phosphorylation as a measure of DNA double-strand breaks and a marker of environmental stress and disease activity in lupus. DSBs were quantified in peripheral blood mononuclear cell subsets from patients with SLE, healthy controls, and patients with rheumatoid arthritis (RA) by measuring phosphorylated H2AX (phospho-H2AX) levels with flow cytometry. Most hydrogen peroxide-induced histone H2AX phosphorylation is mediated by ATR and is not dependent on DNA double-strand breaks. The nuclear foci of phosphorylated histone H2AX (H2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). These results suggest that a major fraction of H2AX induced by oxidative stress is not associated with DSBs. ", "Defective or inefficient DNA double-strand break (DSB) repair results in failure to preserve genomic integrity leading to apoptotic cell death, a hallmark of systemic lupus erythematosus (SLE). The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). A sequence variant of histone H2A called H2AX is one of the key components of chromatin involved in DNA damage response induced by different genotoxic stresses. DNA double-strand breaks (DSBs) can induce chromosomal aberrations and carcinogenesis and their correct repair is crucial for genetic stability.", "DSBs were quantified in peripheral blood mononuclear cell subsets from patients with SLE, healthy controls, and patients with rheumatoid arthritis (RA) by measuring phosphorylated H2AX (phospho-H2AX) levels with flow cytometry DNA double-strand breaks in heterochromatin elicit fast repair protein recruitment, histone H2AX phosphorylation and relocation to euchromatin" ]

[ "it is rapidly concentrated" ]

[ "Histone H2AX phosphorylation as a measure of DNA double-strand breaks and a marker of environmental stress and disease activity in lupus", "DSBs were quantified in peripheral blood mononuclear cell subsets from patients with SLE, healthy controls, and patients with rheumatoid arthritis (RA) by measuring phosphorylated H2AX (phospho-H2AX) levels with flow cytometry", "Most hydrogen peroxide-induced histone H2AX phosphorylation is mediated by ATR and is not dependent on DNA double-strand breaks.", "The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR)", "These results suggest that a major fraction of γH2AX induced by oxidative stress is not associated with DSBs. Single-stranded DNA arisen from stalled replication forks can cause the ATR-mediated induction of γH2AX", "H2AX phosphorylation at the sites of DNA double-strand breaks in cultivated mammalian cells and tissues", "A sequence variant of histone H2A called H2AX is one of the key components of chromatin involved in DNA damage response induced by different genotoxic stresses", " Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress", "DNA double-strand breaks in heterochromatin elicit fast repair protein recruitment, histone H2AX phosphorylation and relocation to euchromatin", "he cellular response to DSBs depends on damage signaling including the phosphorylation of the histone H2AX (γH2AX). However, a lack of γH2AX formation in heterochromatin (HC) is generally observed after DNA damage induction. Here, we examine γH2AX and repair protein foci along linear ion tracks traversing heterochromatic regions in human or murine cells and find the DSBs and damage signal streaks bending around highly compacted DNA. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24682951", "http://www.ncbi.nlm.nih.gov/pubmed/27158526", "http://www.ncbi.nlm.nih.gov/pubmed/22704343", "http://www.ncbi.nlm.nih.gov/pubmed/21511815" ]

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