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[ "Yes, there is evidence to suggest that valproic acid (VPA) is associated with prolonged survival of glioblastoma patients. Several studies have indicated that VPA has radiosensitizing effects for gliomas and radioprotective influence on normal brain tissue or hippocampal neurons." ]

[ "yes" ]

[ "For patients who presented with epilepsy, the use of the antiepileptic drug VPA did not associate with survival when compared with patients who did not receive VPA treatment.", "This prognostic effect is not solely explained by early diagnosis, and survival is not associated with VPA treatment.", "Several in vivo and in vitro studies have indicated that VPA has radiosensitizing effects for gliomas and radioprotective influence on normal brain tissue or hippocampal neurons. The results of several retrospective studies have also indicated potential benefit to improve survival of patients with GBM. Moreover, the promising treatment results of a phase 2 trial of concurrent radiation therapy, temozolomide, and VPA for patients with GBM have been recently reported. ", "While there have not been any novel anti-GBM therapeutics approved for many years, there has been the gradual accumulation of clinical data suggesting that the widely used anti-convulsant agent, valproic acid (VPA) may significantly prolong survival in GBM patients.", " Additionally, VPA may result in improved outcomes compared to historical data and merits further study.", "Several retrospective studies in seizure patients with glioblastoma treated with chemotherapy have provided evidence for a moderately improved survival with the use of valproic acid, possibly due to inhibition of histone deacetylase", "Several clinical studies have reported that valproic acid could prolong survival of GBM patients", "While there have not been any novel anti-GBM therapeutics approved for many years, there has been the gradual accumulation of clinical data suggesting that the widely used anti-convulsant agent, valproic acid (VPA) may significantly prolong survival in GBM patients", "Prolonged survival with valproic acid use in the EORTC/NCIC temozolomide trial for glioblastoma", "Prolonged survival with valproic acid use in the EORTC/NCIC temozolomide trial for glioblastoma.", "Valproic acid use during radiation therapy for glioblastoma associated with improved survival.", "Patients receiving VPA alone (97 [16.9%]) appeared to derive more survival benefit from TMZ/RT (hazard ratio [HR] 0.39, 95% confidence interval [CI] 0.24-0.63) than patients receiving an EIAED only (252 [44%]) (HR 0.69, 95% CI 0.53-0.90) or patients not receiving any AED (HR 0.67, 95% CI 0.49-0.93). ", "Several retrospective studies in seizure patients with glioblastoma treated with chemotherapy have provided evidence for a moderately improved survival with the use of valproic acid, possibly due to inhibition of histone deacetylase.", "Several uncontrolled retrospective case series and a post hoc analysis of the registration trial for temozolomide indicated an association between valproic acid (VPA) use and improved survival outcomes in patients with newly diagnosed glioblastoma.To confirm the hypothesis suggested above, a combined analysis of survival association of antiepileptic drug use at the start of chemoradiotherapy with temozolomide was performed in the pooled patient cohort (n = 1,869) of four contemporary randomized clinical trials in newly diagnosed glioblastoma: AVAGlio (Avastin in Glioblastoma; NCT00943826), CENTRIC (Cilengitide, Temozolomide, and Radiation T", "Several clinical studies have reported that valproic acid could prolong survival of GBM patients.", "Patients receiving VPA alone (97 [16.9%]) appeared to derive more survival benefit from TMZ/RT (hazard ratio [HR] 0.39, 95% confidence interval [CI] 0.24-0.63) than patients receiving an EIAED only (252 [44%]) (HR 0.69, 95% CI 0.53-0.90) or patients not receiving any AED (HR 0.67, 95% CI 0.49-0.93).VPA may be preferred over an EIAED in patients with glioblastoma who require an AED during TMZ-based chemoradiotherapy.", "The combination of radiotherapy, temozolomide and valproic acid (VPA) has shown some promise in retrospective analyses of patients with glioblastoma, although their mechanisms of action remain unknown.We investigated the in vitro and in vivo effects of pretreating glioma cells with temozolomide and VPA as an immunization strategy to boost an adaptive immune response in a syngeneic mouse model.Temozolomide and VPA induced autophagy in GL261 glioma cells, and caused tumor antigen-specific T-cells to become activated effector T-cells.", "Prolonged survival with valproic acid use in the EORTC/NCIC temozolomide trial for glioblastoma." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26786929", "http://www.ncbi.nlm.nih.gov/pubmed/26976976", "http://www.ncbi.nlm.nih.gov/pubmed/26194676", "http://www.ncbi.nlm.nih.gov/pubmed/25648357", "http://www.ncbi.nlm.nih.gov/pubmed/22168970", "http://www.ncbi.nlm.nih.gov/pubmed/25066904", "http://www.ncbi.nlm.nih.gov/pubmed/21880994", "http://www.ncbi.nlm.nih.gov/pubmed/26420896", "http://www.ncbi.nlm.nih.gov/pubmed/26925628", "http://www.ncbi.nlm.nih.gov/pubmed/24328881", "http://www.ncbi.nlm.nih.gov/pubmed/27889835", "http://www.ncbi.nlm.nih.gov/pubmed/18751431", "http://www.ncbi.nlm.nih.gov/pubmed/23523186" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016019", "http://www.disease-ontology.org/api/metadata/DOID:3073", "http://www.disease-ontology.org/api/metadata/DOID:3068", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013534", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005909", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4271063", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015996", "http://www.biosemantics.org/jochem#4271063", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014635" ]

[ "Direct interaction of Ikaros and Foxp1 modulates expression of the G protein-coupled receptor G2A in B-lymphocytes and acute lymphoblastic leukemia.", "The effect of the direct interaction of Ikaros and Foxp1 in B-lymphocytesis is modulation of expression of the G protein-coupled receptor G2A." ]

[ "Modulation of expression of the G protein-coupled receptor G2A." ]

[ "Direct interaction of Ikaros and Foxp1 modulates expression of the G protein-coupled receptor G2A in B-lymphocytes and acute lymphoblastic leukemia.", "We describe a novel physical and functional interaction between the proteins, which requires the central zinc finger domain of Ikaros. The Ikaros-Foxp1 interaction is abolished by deletion of this region, which corresponds to the IK6 isoform that is commonly associated with high-risk acute lymphoblastic leukemia (ALL). We also identify the Gpr132 gene, which encodes the orphan G protein-coupled receptor G2A, as a novel target for Foxp1. ", "Our results reveal a novel effect of Ikaros haploinsufficiency on Foxp1 functioning, and identify G2A as a potential modulator of the cell cycle in Ikaros-deleted B-ALL.", "Our results reveal a novel effect of Ikaros haploinsufficiency on Foxp1 functioning, and identify G2A as a potential modulator of the cell cycle in Ikaros-deleted B-ALL.", "Direct interaction of Ikaros and Foxp1 modulates expression of the G protein-coupled receptor G2A in B-lymphocytes and acute lymphoblastic leukemia.", "Our results reveal a novel effect of Ikaros haploinsufficiency on Foxp1 functioning, and identify G2A as a potential modulator of the cell cycle in Ikaros-deleted B-ALL.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27588474" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001402", "http://www.uniprot.org/uniprot/FOXP1_RAT", "http://www.uniprot.org/uniprot/FOXP1_MOUSE", "http://www.biosemantics.org/jochem#4250484", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D060151", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051740" ]

[ "mice lacking sister chromatid cohesion protein pds5b exhibit developmental abnormalities reminiscent of cornelia de lange syndrome.", "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. ", "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.", "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome", "Mice lacking sister chromatid cohesion protein Pds5b exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome." ]

[ "Cornelia de Lange syndrome." ]

[ "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.", "Pds5B mutant mice have developmental abnormalities resembling CdLS", "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome", "Pds5B mutant mice have developmental abnormalities resembling CdLS; however the role of Pds5A in mammals and the association of PDS5 proteins with CdLS are unknown.", "Pds5B mutant mice have developmental abnormalities resembling CdLS; however the role of Pds5A in mammals and the association of PDS5 proteins with CdLS are unknown.", "Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17652350", "http://www.ncbi.nlm.nih.gov/pubmed/19412548" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0090695", "http://www.uniprot.org/uniprot/PDS5B_RAT", "http://www.uniprot.org/uniprot/PDS5B_MOUSE" ]

[ "Barth syndrome (BTHS) has an X-linked recessive pattern of inheritance." ]

[ "X-linked recessive pattern of inheritance" ]

[ "Barth syndrome (BTHS) is an X-linked recessive disease primarily affecting males.", "The results of our study should not only be applicable to BTHS families, but also to families with other X-linked diseases.", "Barth syndrome, an X-linked disorder that is characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay, is caused by mutations in the taffazin gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. ", "Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.", "Mutations in the G4.5 gene result in a wide spectrum of severe infantile X-linked cardiomyopathic phenotypes including Barth syndrome with dilated cardiomyopathy and INVM.", "X-linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E1 alpha subunit of the pyruvate dehydrogenase complex. ", "X-linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E1 alpha subunit of the pyruvate dehydrogenase complex.", "OBJECTIVE: Barth syndrome is a rare, X-linked recessive disorder that affects only boys.", "Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy.", "Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria.", "Barth syndrome is an X-linked cardiac and skeletal mitochondrial myopathy.", "Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance", "X-linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E1 alpha subunit of the pyruvate dehydrogenase complex", "Although the cardiomyopathy was familial in two siblings, two of three cases were female, ruling out Barth syndrome (with sex-linked recessive inheritance)", "Barth syndrome is an X-linked genetic disorder caused by mutations in the tafazzin (taz) gene and characterized by dilated cardiomyopathy, exercise intolerance, chronic fatigue, delayed growth, and neutropenia", "Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.", "X-linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E1 alpha subunit of the pyruvate dehydrogenase complex.", "Although the cardiomyopathy was familial in two siblings, two of three cases were female, ruling out Barth syndrome (with sex-linked recessive inheritance).", "Although the cardiomyopathy was familial in two siblings, two of three cases were female, ruling out Barth syndrome (with sex-linked recessive inheritance).", "Barth syndrome should be considered when boys present with cardiomyopathy, especially when associated with increased left ventricular trabeculations, neutropenia, skeletal muscle weakness, or family history indicating an X-linked pattern of inheritance.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9345098", "http://www.ncbi.nlm.nih.gov/pubmed/21932011", "http://www.ncbi.nlm.nih.gov/pubmed/12749056", "http://www.ncbi.nlm.nih.gov/pubmed/16847078", "http://www.ncbi.nlm.nih.gov/pubmed/24751896", "http://www.ncbi.nlm.nih.gov/pubmed/24342716", "http://www.ncbi.nlm.nih.gov/pubmed/8884581", "http://www.ncbi.nlm.nih.gov/pubmed/21068380", "http://www.ncbi.nlm.nih.gov/pubmed/24093814", "http://www.ncbi.nlm.nih.gov/pubmed/11975944", "http://www.ncbi.nlm.nih.gov/pubmed/12112112", "http://www.ncbi.nlm.nih.gov/pubmed/16857210", "http://www.ncbi.nlm.nih.gov/pubmed/21987083", "http://www.ncbi.nlm.nih.gov/pubmed/23523468", "http://www.ncbi.nlm.nih.gov/pubmed/25776009", "http://www.ncbi.nlm.nih.gov/pubmed/8487269", "http://www.ncbi.nlm.nih.gov/pubmed/23031367", "http://www.ncbi.nlm.nih.gov/pubmed/8434619", "http://www.ncbi.nlm.nih.gov/pubmed/17353728", "http://www.ncbi.nlm.nih.gov/pubmed/19037987", "http://www.ncbi.nlm.nih.gov/pubmed/25185984" ]

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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:0050476", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D040582", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056889" ]

[ "Primary cutaneous cryptococcosis (PCC) without systemic infection is rare." ]

[ "no" ]

[ " Cryptococcus is an opportunistic yeast with a worldwide distribution that primarily causes significant infections in immunocompromised individuals, generally by affecting the respiratory tract. But primary cutaneous cryptococcosis (PCC) without systemic infection is rare. ", "Cryptococcus is a ubiquitous fungus and is known for causing meningitis and cutaneous infections in immunocompromised individuals.", "Cryptococcus neoformans is an encapsulated yeast that can cause primary pulmonary infections or disseminate and cause infections of the central nervous system, meninges, skin, and bone in the immunocompromised host.", "The authors report a male patient, a seller with no detected immunosuppression, with an extensive ulcerated skin lesion localized on the left forearm, caused by Cryptococcus neoformans var." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26246081", "http://www.ncbi.nlm.nih.gov/pubmed/12602722", "http://www.ncbi.nlm.nih.gov/pubmed/27852678", "http://www.ncbi.nlm.nih.gov/pubmed/12219115" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003453", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012874", "http://www.disease-ontology.org/api/metadata/DOID:12053", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003455", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003454" ]

[ "Pictilisib acts by inhibiting PI3K. It is used for breast cancer treatment." ]

[]

[ "EXPERIMENTAL DESIGN: Antiestrogen-sensitive and antiestrogen-resistant ER(+) human breast cancer cell lines and mice bearing PIK3CA-mutant xenografts were treated with the antiestrogen fulvestrant, the PI3K inhibitor GDC-0941 (pictilisib; varied doses/schedules that provided similar amounts of drug each week), or combinations. ", "These strategies include first-line therapy with high-dose fulvestrant or everolimus (in combination with exemestane or letrozole or with other endocrine therapies), use of the PI3K inhibitors (e.g., buparlisib, alpelisib, pictilisib, taselisib), entinostat, CDK 4/6 inhibitors (e.g., palbociclib, ribociclib, abemaciclib), and novel selective estrogen receptor degradation agents that may enhance the targeting of acquired mutations in the ESR1 gene.", "Phase II Randomized Preoperative Window-of-Opportunity Study of the PI3K Inhibitor Pictilisib Plus Anastrozole Compared With Anastrozole Alone in Patients With Estrogen Receptor-Positive Breast Cancer.", "This preoperative window study assessed whether adding the PI3K inhibitor pictilisib (GDC-0941) can increase the antitumor effects of anastrozole in primary breast cancer and aimed to identify the most appropriate patient population for combination therapy.", "In contrast to parental cells, resistant cells were sensitive to growth inhibition and apoptosis induced by the class I PI3K inhibitor, GDC-0941 (pictilisib), which also induced FOXO1 nuclear translocation.", "Using a mass spectrometry-based metabolomics platform, we discovered that plasma concentrations of 26 metabolites, including amino acids, acylcarnitines, and phosphatidylcholines, were decreased in mice bearing PTEN-deficient tumors compared with non-tumor-bearing controls and in addition were increased following dosing with class I PI3K inhibitor pictilisib (GDC-0941).", "The PI3K inhibitor pictilisib plus anastrozole suppresses luminal B breast cancer proliferation.", "Pictilisib is an oral inhibitor of multiple PI3K isoforms.", "Pictilisib (GDC-0941) is an oral class I phosphatidylinositol-3-phosphate kinase inhibitor.", "Distribution of the phosphatidylinositol 3-kinase inhibitors Pictilisib (GDC-0941) and GNE-317 in U87 and GS2 intracranial glioblastoma models-assessment by matrix-assisted laser desorption ionization imaging.", "First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors.", "PURPOSE: This first-in-human dose-escalation trial evaluated the safety, tolerability, maximal-tolerated dose (MTD), dose-limiting toxicities (DLT), pharmacokinetics, pharmacodynamics, and preliminary clinical activity of pictilisib (GDC-0941), an oral, potent, and selective inhibitor of the class I phosphatidylinositol-3-kinases (PI3K).PATIENTS AND METHODS: Sixty patients with solid tumors received pictilisib at 14 dose levels from 15 to 450 mg once-daily, initially on days 1 to 21 every 28 days and later, using continuous dosing for selected dose levels. ", "The PI3K inhibitor pictilisib plus anastrozole suppresses luminal B breast cancer proliferation. <CopyrightInformation>©2016 American Association for Cancer Research.</C", "Understanding the temporal response and pharmacodynamic effects of PI3K inhibition in ER(+) breast cancer will provide a rationale for treatment scheduling to maximize therapeutic index.Antiestrogen-sensitive and antiestrogen-resistant ER(+) human breast cancer cell lines and mice bearing PIK3CA-mutant xenografts were treated with the antiestrogen fulvestrant, the PI3K inhibitor GDC-0941 (pictilisib; varied doses/schedules that provided similar amounts of drug each week), or combinations.", "The objectives of these studies were to visualize and compare by matrix-assisted laser desorption ionization (MALDI) imaging mass spectrometry the brain and tumor distribution of the phosphatidylinositol 3-kinase (PI3K) inhibitors pictilisib (GDC-0941, 2-(1H-indazol-4-yl)-6-(4-methanesulfonyl-piperazin-1-ylmethyl)-4-morpholin-4-yl-thieno[3,2-d]pyrimidine) and GNE-317 [5-(6-(3-methoxyoxetan-3-yl)-7-methyl-4-morpholinothieno[3,2-d]pyrimidin-2-yl)pyrimidin-2-amine] in U87 and GS2 orthotopic models of GBM, models that exhibit differing blood-brain barrier characteristics.", "Treating Mx1-Cre, Kras(D12) mice with GDC-0941 (also referred to as pictilisib), an orally bioavailable inhibitor of class I PI3K isoforms, reduced leukocytosis, anemia and splenomegaly while extending survival.", "These strategies include first-line therapy with high-dose fulvestrant or everolimus (in combination with exemestane or letrozole or with other endocrine therapies), use of the PI3K inhibitors (e.g., buparlisib, alpelisib, pictilisib, taselisib), entinostat, CDK 4/6 inhibitors (e.g., palbociclib, ribociclib, abemaciclib), and novel selective estrogen receptor degradation agents that may enhance the targeting of acquired mutations in the ESR1 gene. <CopyrightInformation>Copyright © 2015.", "Pictilisib is an oral inhibitor of multiple PI3K isoforms." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27044711", "http://www.ncbi.nlm.nih.gov/pubmed/25370471", "http://www.ncbi.nlm.nih.gov/pubmed/27573562", "http://www.ncbi.nlm.nih.gov/pubmed/26830312", "http://www.ncbi.nlm.nih.gov/pubmed/27565810", "http://www.ncbi.nlm.nih.gov/pubmed/26733612", "http://www.ncbi.nlm.nih.gov/pubmed/26965285", "http://www.ncbi.nlm.nih.gov/pubmed/27489350", "http://www.ncbi.nlm.nih.gov/pubmed/27012832", "http://www.ncbi.nlm.nih.gov/pubmed/24754926", "http://www.ncbi.nlm.nih.gov/pubmed/27155741", "http://www.ncbi.nlm.nih.gov/pubmed/27048952", "http://www.ncbi.nlm.nih.gov/pubmed/27529512", "http://www.ncbi.nlm.nih.gov/pubmed/26976426" ]

[]

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

[ "Seven sirtuins have been identified in humans, and their functions currently surpass their originally identified role as histone deacetylase and chromatin silencers to encompass nutrient sensing and metabolic function. All seven sirtuins require NAD(+) in order to carry out their enzymatic activity, and thus become activated in conditions of nutrient depletion, starvation, and cellular stress." ]

[]

[ " seven sirtuins have been identified in humans, and their functions currently surpass their originally identified role as histone deacetylase and chromatin silencers to encompass nutrient sensing and metabolic function. All seven sirtuins require NAD(+) in order to carry out their enzymatic activity, and thus become activated in conditions of nutrient depletion, starvation, and cellular stress. ", "Sirtuins are NAD-dependent lysine deacylases that play critical roles in cellular regulation and are implicated in human diseases.", "Sirtuins are NAD+ -dependent class III histone deacetylases (HDACs) " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26463981", "http://www.ncbi.nlm.nih.gov/pubmed/26961318", "http://www.ncbi.nlm.nih.gov/pubmed/26796034" ]

[]

[]

[ "The testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon", "Does the linear Sry transcript function as a ceRNA for miR-138?. Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138. Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1 (HIF-1), and overexpression of SOX4 and HIF-1 effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. ", ", the sex determining region y ( sry) and the cerebellar degeneration-related protein 1 ( cdr1as) rna transcripts have been described to function as a new class of post-transcriptional regulatory rnas that behave as circular endogenous rna sponges for the micro rnas (mirnas) mir-138 and mir-7 , respectively . ", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138.", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively.", "Does the linear Sry transcript function as a ceRNA for miR-138?. Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1 (HIF-1), and overexpression of SOX4 and HIF-1 effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138. Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. ", "recently, the sex determining region y ( sry) and the cerebellar degeneration-related protein 1 ( cdr1as) rna transcripts have been described to function as a new class of post-transcriptional regulatory rnas that behave as circular endogenous rna sponges for the micro rnas (mirnas) mir-138 and mir-7, respectively.", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. Metastasis is the major factor affecting patient survival in ovarian cancer. MicroRNAs (miRNAs) are important post-transcriptional regulators of gene expression that act by direct base pairing to target sites within untranslated regions of messenger RNAs.", "Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1α (HIF-1α), and overexpression of SOX4 and HIF-1α effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon.", "Does the linear Sry transcript function as a ceRNA for miR-138? Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively.", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. Epidermal growth factor receptor acted as the downstream molecule of SOX4 by way of direct transcriptional control, whereas Slug was the downstream molecule of HIF-1α by way of proteasome-mediated degradation.", "Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1α (HIF-1α), and overexpression of SOX4 and HIF-1α effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. " ]

[ "mir-138" ]

[ "Does the linear Sry transcript function as a ceRNA for miR-138?", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. ", " it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138.", "Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1α (HIF-1α), and overexpression of SOX4 and HIF-1α effectively reversed the miR-138-mediated suppression of cell invasion.", "We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23446346", "http://www.ncbi.nlm.nih.gov/pubmed/23389731", "http://www.ncbi.nlm.nih.gov/pubmed/25580223" ]

[]

[]

[ "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C.", "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C", "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C. " ]

[ "DeepCAGE" ]

[ "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C", "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C.", "DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27199372" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C1415684", "o": "HOXD10" }, { "p": "http://www.w3.org/2004/02/skos/core#prefLabel", "s": "http://linkedlifedata.com/resource/#_5032383335380014", "o": "HOXD10" } ]

[ "http://www.uniprot.org/uniprot/VEGFC_MOUSE", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D040262", "http://www.uniprot.org/uniprot/HXD10_SAGLB", "http://www.uniprot.org/uniprot/HXD10_HUMAN", "http://www.uniprot.org/uniprot/HXD10_HETFR", "http://www.uniprot.org/uniprot/HXD10_LAGLA", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004729", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042582", "http://www.uniprot.org/uniprot/VEGFC_RAT", "http://www.biosemantics.org/jochem#4263666", "http://www.uniprot.org/uniprot/VEGFC_HUMAN", "http://www.uniprot.org/uniprot/HXD10_CHICK", "http://www.uniprot.org/uniprot/HXD10_PANTR", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042442", "http://amigo.geneontology.org/amigo/term/GO:0036328" ]

[ "Yes, obeticholic acid is a farnesoid-X receptor agonist that is approved for the treatment of primary biliary cholangitis in combination with ursodeoxycholic acid in adults with an inadequate response to ursodeoxycholic acid, or as monotherapy in adults unable to tolerate ursodeoxycholic acid." ]

[ "yes" ]

[ "Obeticholic acid in primary biliary cholangitis.", "In a double-blind, randomized, placebo-controlled study including 217 patients with primary biliary cholangitis, the authors show that obeticholic acid (a potent farnesoid X agonist) administered with ursodeoxycholic acid or as monotherapy significantly decreases serum alkaline phosphatase and bilirubin when compared to placebo.", "Obeticholic acid (Ocaliva(TM)) is a farnesoid-X receptor (FXR) agonist that is being developed by Intercept Pharmaceuticals for the treatment of various liver diseases, and has recently been granted accelerated approval in the USA for the treatment of primary biliary cholangitis in combination with ursodeoxycholic acid in adults with an inadequate response to ursodeoxycholic acid, or as monotherapy in adults unable to tolerate ursodeoxycholic acid. ", "Obeticholic Acid (OCA) is a farnesoid X receptor (FXR) agonist which has been evaluated as a second line therapy in PBC and has recently been licenced by the FDA.", "OCA will be the first stratified therapy introduced in PBC, however confirmatory trial and real life data are needed to confirm that suggestive biochemical improvements are matched by improvement in key clinical outcomes.", "Obeticholic acid for the treatment of primary biliary cholangitis in adult patients: clinical utility and patient selection.", "A series of clinical trials of OCA in PBC, primarily in combination with UDCA, have established that OCA leads to significant reductions in serum alkaline phosphatase that are predicted to lead to improved clinical outcomes, while dose-dependent pruritus has been the most common adverse effect. On the basis of these studies, OCA was given conditional approval by the US Food and Drug Administration with plans to establish the long-term clinical efficacy of OCA in patients with advanced PBC.", "Although obeticholic acid was approved by the FDA for the treatment of PBC in May 2016, this development occurred after the symposium presentation. ", "While several agents are being studied in combination with UDCA, monotherapy with the novel agent obeticholic acid, a farnesoid X receptor agonist, has also shown promising results.", "Obeticholic acid (Ocaliva(TM)) is a farnesoid-X receptor (FXR) agonist that is being developed by Intercept Pharmaceuticals for the treatment of various liver diseases, and has recently been granted accelerated approval in the USA for the treatment of primary biliary cholangitis in combination with ursodeoxycholic acid in adults with an inadequate response to ursodeoxycholic acid, or as monotherapy in adults unable to tolerate ursodeoxycholic acid.", "Obeticholic acid for the treatment of primary biliary cholangitis.", "Long-term clinical impact and cost-effectiveness of obeticholic acid for the treatment of primary biliary cholangitis.", "A Placebo-Controlled Trial of Obeticholic Acid in Primary Biliary Cholangitis.", "This article summarizes the milestones in the development of obeticholic acid leading to this first approval for primary biliary cholangitis.", "Obeticholic acid for the treatment of primary biliary cholangitis.", "Long-term Clinical Impact and Cost-Effectiveness of Obeticholic Acid for the Treatment of Primary Biliary Cholangitis.", "Obeticholic acid in primary biliary cholangitis.", "A Placebo-Controlled Trial of Obeticholic Acid in Primary Biliary Cholangitis.", "This article summarizes the milestones in the development of obeticholic acid leading to this first approval for primary biliary cholangitis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27406083", "http://www.ncbi.nlm.nih.gov/pubmed/27906472", "http://www.ncbi.nlm.nih.gov/pubmed/27532829", "http://www.ncbi.nlm.nih.gov/pubmed/27621676", "http://www.ncbi.nlm.nih.gov/pubmed/27700211", "http://www.ncbi.nlm.nih.gov/pubmed/27825634", "http://www.ncbi.nlm.nih.gov/pubmed/27468093", "http://www.ncbi.nlm.nih.gov/pubmed/26312413", "http://www.ncbi.nlm.nih.gov/pubmed/27589928" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C2825352", "o": "Obeticholic Acid" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C2825352", "o": "http://linkedlifedata.com/resource/umls/label/A17691068" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A17691068", "o": "OBETICHOLIC ACID" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0087111", "o": "http://linkedlifedata.com/resource/umls/label/A10762572" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A10762572", "o": "Treatment" } ]

[ "http://www.disease-ontology.org/api/metadata/DOID:0060643", "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=D019468" ]

[ "Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter. Vanoxerine has been in clinical trials for Parkinsonism, depression and cocaine addiction but lacked efficacy.", "Vanoxerine has been in clinical trials for Parkinsonism, depression and cocaine addiction but lacked efficacy. Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter. ", "Vanoxerine has been in clinical trials for Parkinsonism, depression and cocaine addiction and can potential treat atrial fibrillation", "Vanoxerine has been in clinical trials for Parkinsonism, depression and cocaine addiction but lacked efficacy. Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.", "vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.", "Vanoxerine 's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.", "vanoxerine's were strongly frequency-dependent and repositioned it for treatment of atrial fibrillation and flutter. . has been in clinical trials for parkinsonism , depression and cocaine addiction but lacked efficacy. . " ]

[ "atrial fibrillation and flutter" ]

[ "Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.", "Vanoxerine: cellular mechanism of a new antiarrhythmic.", "Therefore, we proposed that vanoxerine might be antiarrhythmic.", "Vanoxerine is a promising, new, investigational antiarrhythmic drug.", "Oral vanoxerine prevents reinduction of atrial tachyarrhythmias: preliminary results.", "Vanoxerine's effects were strongly frequency-dependent and we repositioned it for treatment of atrial fibrillation and flutter.", "Therefore, we proposed that vanoxerine might be antiarrhythmic.", "Vanoxerine has characteristics of a potentially effective and safe antiarrhythmic.", "BACKGROUND: Vanoxerine is a promising, new, investigational antiarrhythmic drug.", "Oral vanoxerine prevents reinduction of atrial tachyarrhythmias: preliminary results.", "Vanoxerine, a new drug for terminating atrial fibrillation and flutter.", "Vanoxerine is an oral, 1,4-dialkylpiperazine derivative antiarrhythmic drug being evaluated for pharmacological cardioversion of atrial fibrillation (AF", "Oral vanoxerine converted AF/AFL to SR at a high rate, was well tolerated, and caused no ventricular proarrhythmia." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21615815", "http://www.ncbi.nlm.nih.gov/pubmed/27108936", "http://www.ncbi.nlm.nih.gov/pubmed/19817928", "http://www.ncbi.nlm.nih.gov/pubmed/19817929", "http://www.ncbi.nlm.nih.gov/pubmed/25684233", "http://www.ncbi.nlm.nih.gov/pubmed/26616666" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0164200", "o": "vanoxerine" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0164200", "o": "http://linkedlifedata.com/resource/umls/label/A17685361" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A17685361", "o": "VANOXERINE" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0164200", "o": "http://linkedlifedata.com/resource/umls/label/A0294723" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0294723", "o": "vanoxerine" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0556030", "o": "repositioning" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0556030", "o": "http://linkedlifedata.com/resource/umls/label/A15558315" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A15558315", "o": "Repositioned" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D056687", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4001200", "http://www.biosemantics.org/jochem#4001200", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4258722", "http://www.biosemantics.org/jochem#4151584", "http://www.biosemantics.org/jochem#4258722", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4151584", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001145" ]

[ "No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing promoter architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements.", "Promoters have diverse regulatory architectures and thus activate genes differently. No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements." ]

[ "Learning de novo promoter architectures from genome-wide transcription start sites." ]

[ "No Promoter Left Behind (NPLB): learn de novo promoter architectures from genome-wide transcription start sites.", "No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements.", "No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements.", "No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements", "No Promoter Left Behind (NPLB): learn de novo promoter architectures from genome-wide transcription start sites", "No Promoter Left Behind (NPLB): learn de novo promoter architectures from genome-wide transcription start sites.", "No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26530723" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011401", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005786", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015870", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018507" ]

[ "Isolated ectopia lentis (EL) is caused by mutation in genes:\n1) ADAMTSL4 and \n2) Fibrillin-1 (FBN1)." ]

[ "ADAMTSL4", "Fibrillin-1", "FBN1" ]

[ "A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.", "The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-recessive isolated EL is ADAMTSL4. Here we report a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral EL. ", "Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.", "Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. ", "In conclusion, we report on a case of early-onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome.", "ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.", "ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis (EL) and thus are important concerning the differential diagnosis of connective tissue syndromes with EL as main feature. ", "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.", "To describe the genotype-phenotype relationship of a cohort of consecutive patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations.", "ADAMTSL4 is the most important known causative gene in isolated EL. Mutations in ADAMTSL4 appear to cause earlier manifestation of EL and are associated with increased axial length as compared to FBN1. We suggest that ADAMTSL4 be screened in all patients with isolated EL and that physicians be vigilant for the more severe ocular phenotype associated with mutations in this gene.", "A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.", "To identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family.", "A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family.", "A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.", "Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene.", "To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.", "Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).", "Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.", "ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description", "Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia.Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis", "To examine the fibrillin-1 (FBN1) gene for mutations in members of a Chinese family with isolated ectopia lentis.Clinically relevant laboratory investigation.Family members underwent clinical examinations", "Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)", "The 65 exons of FBN1 were amplified by polymerase chain reaction and screened for mutations by a combination of denaturing high-performance liquid chromatography analysis and direct DNA sequencing.A mutation, c.184C-->T in exon 2 of FBN1, which results in substitution of arginine by cysteine at position 62 of the fibrillin-1 protein (p.R62C) in all affected family members but in none of the unaffected individuals.A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family", "Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene", "CONCLUSIONS: The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. ", "Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.", "Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.", "Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.", "FBN1 mutations are associated with multiple clinical phenotypes, including Marfan syndrome (MFS), MASS phenotype, and familial ectopia lentis, but rarely with isolated aortic aneurysm and dissection.", "This was correlated with Sanger sequencing of ADAMTSL4 and FBN1 genes.Seventeen patients were examined, including one with ectopia lentis et pupillae.", "Recently, ADAMTSL4 has been shown to be responsible for isolated autosomal recessive ectopia lentis in an inbred family.", "Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.", "A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.", "We suggest that ADAMTSL4 be screened in all patients with isolated EL and that physicians be vigilant for the more severe ocular phenotype associated with mutations in this gene..", "A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.", "Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis.", "A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.", "Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis..", "Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).", "A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20702823", "http://www.ncbi.nlm.nih.gov/pubmed/16765689", "http://www.ncbi.nlm.nih.gov/pubmed/20082464", "http://www.ncbi.nlm.nih.gov/pubmed/24406422", "http://www.ncbi.nlm.nih.gov/pubmed/22871183", "http://www.ncbi.nlm.nih.gov/pubmed/18079676", "http://www.ncbi.nlm.nih.gov/pubmed/22539873", "http://www.ncbi.nlm.nih.gov/pubmed/19390640", "http://www.ncbi.nlm.nih.gov/pubmed/26653794", "http://www.ncbi.nlm.nih.gov/pubmed/21989719", "http://www.ncbi.nlm.nih.gov/pubmed/25975359", "http://www.ncbi.nlm.nih.gov/pubmed/25900864", "http://www.ncbi.nlm.nih.gov/pubmed/22950452", "http://www.ncbi.nlm.nih.gov/pubmed/25654236", "http://www.ncbi.nlm.nih.gov/pubmed/23426735", "http://www.ncbi.nlm.nih.gov/pubmed/17679947", "http://www.ncbi.nlm.nih.gov/pubmed/21051722", "http://www.ncbi.nlm.nih.gov/pubmed/22219643", "http://www.ncbi.nlm.nih.gov/pubmed/22736615", "http://www.ncbi.nlm.nih.gov/pubmed/20141359", "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" ]

[ "Ovine refers to sheep." ]

[ "no" ]

[ "Jaagsiekte sheep retrovirus (JSRV) is the causative agent of ovine pulmonary adenocarcinoma (OPA), a transmissible lung cancer of sheep that has rarely been found in goats. ", "In sheep, a bronchiolo-alveolar carcinoma, known as ovine pulmonary carcinoma (OPC), is caused by jaagsiekte sheep retrovirus (JSRV), an exogenous type D retrovirus. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23903827", "http://www.ncbi.nlm.nih.gov/pubmed/25755186", "http://www.ncbi.nlm.nih.gov/pubmed/11578130" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012756", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D034561" ]

[ "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. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-1). ", "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 these mutations have been found in patients with diamond-blackfan anemia (dba) , a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. . of the corresponding transcription factors are of particular interest , as they are housekeeping genes or show a direct link to hematopoiesis , tumorigenesis or leukemia (e.g gata-1/2 , pu.1 , mzf-1). . ", "These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. 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. Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-1). ", "These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g.", "These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. The Ribosomal protein S19 gene locus (RPS19) has been linked to two kinds of red cell aplasia, Diamond-Blackfan Anemia (DBA) and Transient Erythroblastopenia in Childhood (TEC).", "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. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins.", "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.", "yes", "Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-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. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins." ]

[ "yes" ]

[ "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. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins.", "Sixteen of the corresponding transcription factors are of particular interest, as they are housekeeping genes or show a direct link to hematopoiesis, tumorigenesis or leukemia (e.g. GATA-1/2, PU.1, MZF-1).", "Deletion of PKC1 relieves the repression of both ribosomal protein and rRNA genes that occurs in response to a defect in the secretory pathway.", "This stress is monitored by Pkc1p, which initiates a signal transduction pathway that leads to repression of transcription of the rRNA and ribosomal protein genes.", "The importance of the transcription of the 137 ribosomal protein genes to the economy of the cell is apparent from the existence of at least three distinct pathways that can effect the repression of this set of genes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19587786", "http://www.ncbi.nlm.nih.gov/pubmed/10224082", "http://www.ncbi.nlm.nih.gov/pubmed/24453067" ]

[]

[]

[ "Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1)." ]

[ "fibrillin 1 gene", "FBN1" ]

[ "The diagnostic criteria of Marfan syndrome (MFS) highlight the importance of a FBN1 mutation test in diagnosing MFS. ", "A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations.", "The studies on heart rate variability (HRV), a key predictor of all-cause mortality, in Marfan syndrome (MS), up to now have not been reported, especially in patients with FBN1 mutations.", "Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation. ", "Heart rates in MS patients with the FBN1 mutation were increased in both the supine position and orthostatic test (p<0.001).", "A marked decrease in HRV, documented in the study, may be an important clinical feature in MS patients with confirmed FBN1 gene mutations.", "Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.", "Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. ", "Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.", "Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene (FBN1). ", "While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene.", "[Screening of FBN1 gene mutations in a family with Marfan syndrome].", "To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.", "Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis.", "Three diagnostic classifications comprising first, Marfan genotype with a causative FBN1 gene mutation; second, Marfan phenotype with clinical criteria of the original Ghent nosology (Ghent-1); and third, phenotype with clinical criteria of its current revision (Ghent-2) in 300 consecutive persons referred for confirmation or exclusion of Marfan syndrome (150 men, 150 women aged 35 ± 13 years) were used.", "Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.", "Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene.", "Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.", "Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder.", "Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.", "We conclude that fibrillin gene defects cause familial Marfan syndrome, that mutations in the EGF-like motif of the fibrillin gene are not uniformly associated with severe disease, and that fibrillin genotype is not the sole determinant of Marfan phenotype.", "Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome.", "Severe Marfan syndrome due to FBN1 exon deletions.", "BACKGROUND: Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications.", "It is still difficult to use modern genetic testing for diagnosis because Marfan syndrome can be caused by many different mutations in FBN1, a large gene with 65 coding segments, while mutations in other genes can cause overlapping phenotypes", "The studies on heart rate variability (HRV), a key predictor of all-cause mortality, in Marfan syndrome (MS), up to now have not been reported, especially in patients with FBN1 mutations.Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation", "Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause Marfan syndrome (MFS)", "Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes", "Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders", "Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes", "The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population", "Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission", "Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders", "Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.", "Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene.", "Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene.", "Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system. ", "It has been firmly established that mutations in the gene for fibrillin 1, FBN1, cause Marfan syndrome (MFS).", "Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome and related connective tissue disorders (fibrillinopathies) that show autosomal dominant inheritance.", "It is known that mutations in the fibrillin gene cause a heterogenous connective tissue disease called Marfan syndrome [2], so information on mechanical properties of microfibrils or their role in tissue function would be useful.", "Mutations in the fibrillin gene located on human chromosome 15 have been strongly implicated as the cause of the Marfan syndrome.", "Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes.", "Mutations within the fibrillin-1 gene cause Marfan syndrome (MFS), a heritable disease of connective tissue.", "These data speak against the hypothesis that mutations in one or more of these 3 fibrillar collagens cause the classic Marfan syndrome.", "By WES and filtering with a mining tool, a novel FBN1 missense variant was found in patient 1 and his mother, who both showed clinical features of Marfan syndrome by thorough anthropometric assessment, and a novel EYA1 missense variant as a probable cause of the renal malformation in the patient.", "Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been associated with a wide range of overlapping phenotypes.", "FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD.", "Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15.", "Mutations in the gene for fibrillin-1 (FBN1) cause Marfan syndrome, an autosomal dominant disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular system.", "We here report 22 novel and 9 recurrent mutations in the FBN1 gene in 36 patients with clinical features of Marfan syndrome.", "The fibrillin gene is the site of mutations causing Marfan's syndrome.", "Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission.", "FBN1 at 15q21.1 was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24.1 was newly identified as the Marfan syndrome type II gene.", "Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.", "Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders.", "Mutations in the gene coding for fibrillin-1, FBN1, are known to cause Marfan syndrome, and have been identified in almost all exons of FBN1.", "Mutations in the gene encoding fibrillin-1 (FBN1), a component of the extracellular microfibril, cause the Marfan syndrome (MFS).", "The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese population.", "While mutations causing classic manifestations of Marfan syndrome have been identified throughout the FBN1 gene, the six previously characterized mutations resulting in the severe, perinatal lethal form of Marfan syndrome have clustered in exons 24-32 of the gene.", "Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities.", "Mutations in the gene for fibrillin-1 (FBN1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue characterised by pleiotropic manifestations involving primarily the ocular, skeletal, and cardiovascular systems.", "Through a number of investigational approaches, the gene encoding for fibrillin, the FBN1 gene on chromosome 15, has been identified as the defective gene causing the Marfan syndrome." ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008382", "http://www.disease-ontology.org/api/metadata/DOID:14323" ]

[ "In February 2008, Regeneron received Orphan Drug approval from the Food and Drug Administration for rilonacept in the treatment of two cryopyrin-associated periodic syndromes (CAPS) disorders, namely, familial cold-induced autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), for children and adults 12 years and older." ]

[ "cryopyrin-associated periodic syndromes (CAPS) disorders" ]

[ "Rilonacept (Arcalyst(TM); Regeneron) is the first us Food and Drug Administration-approved treatment for familial cold autoinflammatory syndrome and Muckle-Wells syndrome and the first in a new line of drugs designed for longer-acting IL-1 blockade.", " In February 2008, Regeneron received Orphan Drug approval from the Food and Drug Administration for rilonacept in the treatment of two cryopyrin-associated periodic syndromes (CAPS) disorders, namely, familial cold-induced autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS), for children and adults 12 years and older. ", "In February, 2008, 'Orphan Drug' approval from the Food and Drug Administration (FDA) for rilonacept (IL-1 Trap/Arcalyst(), Regeneron Pharmaceuticals, Inc) was given for the treatment of two CAPS disorders, FCAS and MWS in adults and children 12 years and older, making rilonacept the first therapy approved for the treatment of CAPS." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22096352", "http://www.ncbi.nlm.nih.gov/pubmed/19707454", "http://www.ncbi.nlm.nih.gov/pubmed/19649332" ]

[]

[]

[ "ChIPpeakAnno is a Bioconductor package within the statistical programming environment R that facilitates batch annotation of enriched peaks identified from ChIP-seq, ChIP-chip, cap analysis of gene expression (CAGE) or any experiments resulting in a large number of enriched genomic regions." ]

[]

[ "ChIPpeakAnno: a Bioconductor package to annotate ChIP-seq and ChIP-chip data", "We have developed ChIPpeakAnno as a Bioconductor package within the statistical programming environment R to facilitate batch annotation of enriched peaks identified from ChIP-seq, ChIP-chip, cap analysis of gene expression (CAGE) or any experiments resulting in a large number of enriched genomic regions", "ChIPpeakAnno enables batch annotation of the binding sites identified from ChIP-seq, ChIP-chip, CAGE or any technology that results in a large number of enriched genomic regions within the statistical programming environment R. Allowing users to pass their own annotation data such as a different Chromatin immunoprecipitation (ChIP) preparation and a dataset from literature, or existing annotation packages, such as GenomicFeatures and BSgenome, provides flexibility" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20459804" ]

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[]

[ "Dupilumab, a fully human anti-interleukin-4 receptor α monoclonal antibody, inhibits interleukin-4 and interleukin-13 signalling. It is used for treatment of atopic or allergic diseases." ]

[ "interleukin-4", "interleukin-13" ]

[ "This study reviewed all studies about any roles of IL-4 that can directly and indirectly be played in the development of pemphigus and IL-4 inhibition with interferons and dupilumab therapy were introduced as a novel pemphigus treatment for patients who are in relapse phase of the disease. Dupilumab was also introduced as a possible treatment for patients with severe pemphigus. It can directly inhibit IL-4 by targeting IL-4 α-chain receptor. ", "OBJECTIVE: To assess inhibition of interleukins 4 and 13 with dupilumab in patients with chronic sinusitis and nasal polyposis.", "BACKGROUND: Dupilumab, a fully human anti-interleukin-4 receptor α monoclonal antibody, inhibits interleukin-4 and interleukin-13 signalling, key drivers of type-2-mediated inflammation. ", "Anti-IL-4 and IL-13 agents (dupilumab, lebrikizumab, and tralokinumab) which block different Th-2 inflammatory pathways and agents targeting the Th-17 inflammatory pathway in severe refractory asthma are under development.", "Best evidence of the clinical efficacy of novel immunologic approaches using biological agents in patients with AD is available for the anti-IL-4 receptor α-chain antibody dupilumab, but a number of studies are currently ongoing with other specific antagonists to immune system players.", "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. ", "The world's first prospective controlled studies with the biologic human anti-IL4R antibody dupilumab for the indication \"atopic dermatitis\" were published in 2014.", "An IL-4R antagonist, dupilumab, is the first drug that shows great promise in phase II trials. ", "Dupilumab, a humanized monoclonal antibody to the interteukin-4R is the first antibody (i.e. 'biological') with published efficacy shown in controlled prospective studies in atopic dermatitis. ", "Dupilumab is a fully human monoclonal antibody directed against the IL-4 receptor α subunit that blocks the signaling of IL-4 and IL-13, both key cytokines in Th2-mediated pathways.", "Dupilumab inhibits interleukin-4 (IL-4) and interleukin-13 (IL-13) signaling and was previously found to be effective in asthma.", "Data from early-stage studies suggested that interleukin (IL)-4 and IL-13 are requisite drivers of atopic dermatitis, evidenced by marked improvement after treatment with dupilumab, a fully-human monoclonal antibody that blocks both pathways.", "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.", "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.", "Dupilumab, a fully human anti-interleukin-4 receptor α monoclonal antibody, inhibits interleukin-4 and interleukin-13 signalling, key drivers of type-2-mediated inflammation.", "Dupilumab is a fully human monoclonal antibody directed against the IL-4 receptor α subunit that blocks the signaling of IL-4 and IL-13, both key cytokines in Th2-mediated pathways", "In early-phase trials, dupilumab, a fully human mAb targeting IL-4 receptor �, markedly improved disease activity, but the effect of IL-4/IL-13 blockade on AD at the molecular level has not been characterized.OBJECTIVES: We sought to evaluate dupilumab modulation of the AD molecular signature.METHODS: We performed transcriptomic analyses of pretreatment and posttreatment skin biopsy specimens from patients with moderate-to-severe AD treated weekly with 150 or 300 mg of dupilumab or placebo.RESULTS: Exacerbation of the AD transcriptome was observed in placebo-treated patients. ", "Dupilumab is a fully human monoclonal antibody directed against the IL-4 receptor α subunit that blocks the signaling of IL-4 and IL-13, both key cytokines in Th2-mediated pathways.", "Dupilumab inhibits interleukin-4 (IL-4) and interleukin-13 (IL-13) signaling and was previously found to be effective in asthma.", "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.", "In early-phase trials, dupilumab, a fully human mAb targeting IL-4 receptor á, markedly improved disease activity, but the effect of IL-4/IL-13 blockade on AD at the molecular level has not been characterized.OBJECTIVES: We sought to evaluate dupilumab modulation of the AD molecular signature.METHODS: We performed transcriptomic analyses of pretreatment and posttreatment skin biopsy specimens from patients with moderate-to-severe AD treated weekly with 150 or 300 mg of dupilumab or placebo.RESULTS: Exacerbation of the AD transcriptome was observed in placebo-treated patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27130691", "http://www.ncbi.nlm.nih.gov/pubmed/25482871", "http://www.ncbi.nlm.nih.gov/pubmed/25006719", "http://www.ncbi.nlm.nih.gov/pubmed/26454361", "http://www.ncbi.nlm.nih.gov/pubmed/26598956", "http://www.ncbi.nlm.nih.gov/pubmed/27334730", "http://www.ncbi.nlm.nih.gov/pubmed/26440137", "http://www.ncbi.nlm.nih.gov/pubmed/27690741", "http://www.ncbi.nlm.nih.gov/pubmed/25214796", "http://www.ncbi.nlm.nih.gov/pubmed/25645542", "http://www.ncbi.nlm.nih.gov/pubmed/26308331", "http://www.ncbi.nlm.nih.gov/pubmed/27525671", "http://www.ncbi.nlm.nih.gov/pubmed/27637004", "http://www.ncbi.nlm.nih.gov/pubmed/25542094", "http://www.ncbi.nlm.nih.gov/pubmed/27497276", "http://www.ncbi.nlm.nih.gov/pubmed/26967382", "http://www.ncbi.nlm.nih.gov/pubmed/27223113", "http://www.ncbi.nlm.nih.gov/pubmed/26457448", "http://www.ncbi.nlm.nih.gov/pubmed/26428945", "http://www.ncbi.nlm.nih.gov/pubmed/26836729", "http://www.ncbi.nlm.nih.gov/pubmed/23688323", "http://www.ncbi.nlm.nih.gov/pubmed/24275927" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0023052", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015398" ]

[ "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype.", "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia. Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype. Another interesting finding is that high ratios of TOP2B/RRM2 and TOP2B/TOP2 alpha (TOP2A) in a combined analysis were also shown to have a prognostic impact for longer survival with improved accuracy. Among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the TOP2B/TOP2A ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (HR, 0.24; P=0.002) and overall survival (HR, 0.29; P=0.005). ", "Among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the TOP2B/TOP2A ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (HR, 0.24; P=0.002) and overall survival (HR, 0.29; P=0.005). Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype.", "among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the top2b/top2a ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (hr, 0.24; p=0.002) and overall survival (hr, 0.29; p=0.005).", "yes", "Another interesting finding is that high ratios of TOP2B/RRM2 and TOP2B/TOP2 alpha (TOP2A) in a combined analysis were also shown to have a prognostic impact for longer survival with improved accuracy. Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype.", "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia" ]

[ "yes" ]

[ "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia", "Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype.", "Another interesting finding is that high ratios of TOP2B/RRM2 and TOP2B/TOP2 alpha (TOP2A) in a combined analysis were also shown to have a prognostic impact for longer survival with improved accuracy.", "Among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the TOP2B/TOP2A ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (HR, 0.24; P=0.002) and overall survival (HR, 0.29; P=0.005)", "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia.", "Among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the TOP2B/TOP2A ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (HR, 0.24; P=0.002) and overall survival (HR, 0.29; P=0.005).Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype", "CONCLUSION: Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype.", "Genes with distinct expression profiles such as TOP2B/TOP2A expression ratio at diagnosis can be employed for outcome prediction after the treatment with standard regimens in AML patients with M2 subtype..", "High TOP2B/TOP2A expression ratio at diagnosis correlates with favourable outcome for standard chemotherapy in acute myeloid leukaemia.", "Among the four markers, when adjusted for the influence of other clinical factors in multivariate analysis, the TOP2B/TOP2A ratio was significantly correlated with treatment outcomes; patients with high ratios trended toward longer disease-free survival (HR, 0.24; P=0.002) and overall survival (HR, 0.29; P=0.005).", "Another interesting finding is that high ratios of TOP2B/RRM2 and TOP2B/TOP2 alpha (TOP2A) in a combined analysis were also shown to have a prognostic impact for longer survival with improved accuracy." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22627319" ]

[]

[]

[ "Fibrillar polymers-actin filaments, microtubules, and intermediate filaments-are major constituents of the cytoskeleton." ]

[ "actin filaments", "microtubules", "intermediate filaments" ]

[ "Fibrillar polymers-actin filaments, microtubules, and intermediate filaments-are major constituents of the cytoskeleton," ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26498781" ]

[]

[]

[ "The genus and species of the European honey bee is Apis mellifera." ]

[ "Apis" ]

[ "European honey bee (Apis mellifera)", " European honey bees (Apis mellifera)", " European honey bees (Apis mellifera", " European honey bees, Apis mellifera" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18941909", "http://www.ncbi.nlm.nih.gov/pubmed/26990560", "http://www.ncbi.nlm.nih.gov/pubmed/27518068", "http://www.ncbi.nlm.nih.gov/pubmed/27447542", "http://www.ncbi.nlm.nih.gov/pubmed/27705831", "http://www.ncbi.nlm.nih.gov/pubmed/19909977", "http://www.ncbi.nlm.nih.gov/pubmed/21960435", "http://www.ncbi.nlm.nih.gov/pubmed/17897670" ]

[]

[]

[ "TAZ gene (G4.5) is located on Xq28 in humans." ]

[ "Xq28" ]

[ "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.", "Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. ", "The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28.", "Disabling mutations or deletions of the tafazzin (TAZ) gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane", "The tafazzin gene (TAZ) is located at Xq28 and encodes a protein involved in the transacylation of cardiolipin, an essential mitochondrial phospholipid", "The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28", "The disorder is caused by mutations in the tafazzin (TAZ/G4.5) gene located on Xq28.", "Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9345098", "http://www.ncbi.nlm.nih.gov/pubmed/25118650", "http://www.ncbi.nlm.nih.gov/pubmed/23398819", "http://www.ncbi.nlm.nih.gov/pubmed/12032589", "http://www.ncbi.nlm.nih.gov/pubmed/23606313", "http://www.ncbi.nlm.nih.gov/pubmed/19261493", "http://www.ncbi.nlm.nih.gov/pubmed/11735032", "http://www.ncbi.nlm.nih.gov/pubmed/23031367", "http://www.ncbi.nlm.nih.gov/pubmed/10407787" ]

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[ "http://www.uniprot.org/uniprot/TAZ_MACMU", "http://www.uniprot.org/uniprot/TAZ_HUMAN", "http://www.uniprot.org/uniprot/TAZ_SAISC", "http://www.uniprot.org/uniprot/TAZ_PONPY", "http://www.uniprot.org/uniprot/TAZ_ERYPA", "http://www.uniprot.org/uniprot/TAZ_PANTR", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006801" ]

[ "Nerve-associated peripheral glial progenitors give rise to parasympathetic neurons. The parasympathetic system in mice--including trunk ganglia and the cranial ciliary, pterygopalatine, lingual, submandibular, and otic ganglia--arise from glial cells in nerves, not neural crest cells. The parasympathetic fate is induced in nerve-associated Schwann cell precursors at distal peripheral sites.", "Parasympathetic neurons originate from nerve-associated peripheral glial progenitors. The parasympathetic fate is induced in nerve-associated Schwann cell precursors at distal peripheral sites.", "Parasympathetic neurons originate from nerve-associated peripheral glial progenitors." ]

[ "Parasympathetic neurons" ]

[ "Parasympathetic neurons originate from nerve-associated peripheral glial progenitors.", "We show that the parasympathetic system in mice--including trunk ganglia and the cranial ciliary, pterygopalatine, lingual, submandibular, and otic ganglia--arise from glial cells in nerves, not neural crest cells. The parasympathetic fate is induced in nerve-associated Schwann cell precursors at distal peripheral sites.", "Neurodevelopment. Parasympathetic neurons originate from nerve-associated peripheral glial progenitors.", "Parasympathetic neurons originate from nerve-associated peripheral glial progenitors", "Neurodevelopment. Parasympathetic neurons originate from nerve-associated peripheral glial progenitors." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24925909" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009457", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009417", "http://amigo.geneontology.org/amigo/term/GO:0010001", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009474" ]

[ "transcriptional activation is associated with a dynamic bi-modal 3d organization, whereby the genes switch autonomously from an inactive to an active compartment.", "Initially, Hox clusters are organized as single chromatin compartments containing all genes and bivalent chromatin marks. Transcriptional activation is associated with a dynamic bi-modal 3D organization, whereby the genes switch autonomously from an inactive to an active compartment. ", ", hox clusters are organized as single chromatin compartments containing all genes and bivalent chromatin marks. . activation is associated with a dynamic bi-modal 3d organization , whereby the genes switch autonomously from an inactive to an active compartment. . ", "Initially, Hox clusters are organized as single chromatin compartments containing all genes and bivalent chromatin marks. Transcriptional activation is associated with a dynamic bi-modal 3D organization, whereby the genes switch autonomously from an inactive to an active compartment." ]

[ "two", "2" ]

[ "Initially, Hox clusters are organized as single chromatin compartments containing all genes and bivalent chromatin marks.", "Transcriptional activation is associated with a dynamic bi-modal 3D organization, whereby the genes switch autonomously from an inactive to an active compartment." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24843030" ]

[]

[]

[ "Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3 Hz) spike wave discharges on electroencephalography.", "lennox-gastaut syndrome (lgs) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3 hz) spike wave discharges on electroencephalography.", " children with Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3 Hz) spike wave discharges on electroencephalography" ]

[ "no" ]

[ "We studied 15 LGS patients (mean age ± 1 standard deviation [SD] = 28.7 ± 10.6 years) and 17 healthy controls (mean age ± 1 SD = 27.6 ± 6.6 years)", " children with Lennox-Gastaut syndrome", "Lennox-Gastaut syndrome (LGS) is a severe pediatric epilepsy syndrome characterized by mixed seizures, cognitive decline, and generalized slow (<3 Hz) spike wave discharges on electroencephalography", "Clinical course and results of therapy were analysed in the group of 92 children, aged between 3 and 9 years, with diagnosed Lennox-Gastaut syndrome.", "We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome.", "Lennox-Gastaut syndrome is a relatively rare epilepsy syndrome that usually begins in early-mid childhood and is characterized by multiple seizure types, particularly generalized seizures, which are often resistant to antiepileptic drug medication", "Lennox-Gastaut Syndrome is a severe childhood epilepsy syndrome characterised by the diagnostic triad of a slow spike and wave pattern on electroencephalogram, multiple seizure types and developmental delay", "We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome..", "The Lennox-Gastaut syndrome, a severe form of epilepsy that usually begins in early childhood, is difficult to treat.", "Lennox-Gastaut syndrome is a relatively rare epilepsy syndrome that usually begins in early-mid childhood and is characterized by multiple seizure types, particularly generalized seizures, which are often resistant to antiepileptic drug medication.", "The Lennox-Gastaut syndrome is an age-specific disorder, characterised by epileptic seizures, a characteristic electroencephalogram (EEG), psychomotor delay and behaviour disorders. It occurs more frequently in males and onset is usually before the age of eight, with a peak between three and five years. Late cases occurring in adolescence and early adulthood have rarely been reported. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22576075", "http://www.ncbi.nlm.nih.gov/pubmed/8029151", "http://www.ncbi.nlm.nih.gov/pubmed/26166587", "http://www.ncbi.nlm.nih.gov/pubmed/24659735", "http://www.ncbi.nlm.nih.gov/pubmed/20542434", "http://www.ncbi.nlm.nih.gov/pubmed/26945476", "http://www.ncbi.nlm.nih.gov/pubmed/9400037", "http://www.ncbi.nlm.nih.gov/pubmed/20518600" ]

[]

[ "http://www.disease-ontology.org/api/metadata/DOID:0050561", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D065768" ]

[ "EXCEL trial compared Everolimus Eluting Stent vs. Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization." ]

[ "Everolimus Eluting Stent", "Coronary Artery Bypass Surgery" ]

[ "Long-term forecasting and comparison of mortality in the Evaluation of the Xience Everolimus Eluting Stent vs. Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) trial: prospective validation of the SYNTAX Score II.", "AIMS: To prospectively validate the SYNTAX Score II and forecast the outcomes of the randomized Evaluation of the Xience Everolimus-Eluting Stent Versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) Trial.", "Based on 4-year mortality predictions in EXCEL, clinical characteristics shifted long-term mortality predictions either in favour of PCI (older age, male gender and COPD) or CABG (younger age, lower creatinine clearance, female gender, reduced left ventricular ejection fraction).", "Given that the completed randomized trials did not include contemporary DESs, the upcoming results of the ongoing trials evaluating the performance of new-generation DES compared with CABG (such as the EXCEL trial), may further help to clarify the current role and future recommendations of PCI for left main coronary artery disease. ", "The ongoing EXCEL trial will help elucidate the role of ULMCA PCI in the treatment of left main disease compared with coronary artery bypass graft surgery.", "The ongoing Evaluation of XIENCE V Everolimus Eluting Stent System Versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) trial is expected to provide a better answer on the optimal treatment strategy for LMCAD patients. ", "The Evaluation of Xience Prime or Xience V versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) trial is a multicenter, ongoing trial conducted in patients with left main disease and SYNTAX score ≤ 32 to establish the presumptive advantage of percutaneous coronary intervention (PCI) versus bypass surgery in patients with less complex coronary artery disease than those enrolled in the Synergy between PCI with Taxus and Cardiac Surgery (SYNTAX) trial. ", "The EXCEL trial will address the value of PCI in relation to CABG for the treatment of ULMCA stenosis in more than 2000 patients. ", "OBJECTIVES: The aim of this study is to verify the study hypothesis of the EXCEL trial by comparing percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) in an EXCEL-like population of patients.BACKGROUND: The upcoming EXCEL trial will test the hypothesis that left main patients with SYNTAX score ≤ 32 experience similar rates of 3-year death, myocardial infarction (MI), or cerebrovascular accidents (CVA) following revascularization by PCI or CABG.", "CONCLUSIONS: In an EXCEL-like cohort of patients with left main disease, there seems to be a clinical equipoise between PCI and CABG in terms of death/MI/CVA. ", "The aim of this study is to verify the study hypothesis of the EXCEL trial by comparing percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) in an EXCEL-like population of patients.", "To prospectively validate the SYNTAX Score II and forecast the outcomes of the randomized Evaluation of the Xience Everolimus-Eluting Stent Versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) Trial.Evaluation of the Xience Everolimus Eluting Stent vs. Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization is a prospective, randomized multicenter trial designed to establish the efficacy and safety of percutaneous coronary intervention (PCI) with the everolimus-eluting stent compared with coronary artery bypass graft (CABG) surgery in subjects with unprotected left-main coronary artery (ULMCA) disease and low-intermediate anatomical SYNTAX scores (&lt;33).", "OBJECTIVES: The aim of this study is to verify the study hypothesis of the EXCEL trial by comparing percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) in an EXCEL-like population of patients.BACKGROUND: The upcoming EXCEL trial will test the hypothesis that left main patients with SYNTAX score ?", "The results of the ongoing EXCEL trial, which compares left main percutaneous coronary intervention with drug-eluting stents and CABG, will provide insight regarding the ideal revascularization strategy for these patients..", "Given that the completed randomized trials did not include contemporary DESs, the upcoming results of the ongoing trials evaluating the performance of new-generation DES compared with CABG (such as the EXCEL trial), may further help to clarify the current role and future recommendations of PCI for left main coronary artery disease.", "The introduction of the newer-generation drug-eluting stents (DES) -with documented improvements in both safety and efficacy- has prompted the interventional community to design two new dedicated randomised trials comparing CABG and PCI: the NOBLE (Coronary Artery Bypass Grafting Vs Drug Eluting Stent Percutaneous Coronary Angioplasty in the Treatment of Unprotected Left Main Stenosis) and EXCEL (Evaluation of XIENCE Everolimus Eluting Stent Versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization) trials.", "The EXCEL trial will address the value of PCI in relation to CABG for the treatment of ULMCA stenosis in more than 2000 patients.", "The ongoing Evaluation of XIENCE V Everolimus Eluting Stent System Versus Coronary Artery Bypass Surgery for Effectiveness of Left Main Revascularization (EXCEL) trial is expected to provide a better answer on the optimal treatment strategy for LMCAD patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21547994", "http://www.ncbi.nlm.nih.gov/pubmed/25983143", "http://www.ncbi.nlm.nih.gov/pubmed/26159652", "http://www.ncbi.nlm.nih.gov/pubmed/25583761", "http://www.ncbi.nlm.nih.gov/pubmed/21796086", "http://www.ncbi.nlm.nih.gov/pubmed/22941121", "http://www.ncbi.nlm.nih.gov/pubmed/22075415", "http://www.ncbi.nlm.nih.gov/pubmed/27639738", "http://www.ncbi.nlm.nih.gov/pubmed/22511269", "http://www.ncbi.nlm.nih.gov/pubmed/23995725" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017428", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002986", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016430", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017326" ]

[ "ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations." ]

[]

[ "ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations.", "Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). ", "This is the fifth reported case of the ATR-16 syndrome (alpha-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.", "Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9375730", "http://www.ncbi.nlm.nih.gov/pubmed/24631100", "http://www.ncbi.nlm.nih.gov/pubmed/10631133", "http://www.ncbi.nlm.nih.gov/pubmed/8606626", "http://www.ncbi.nlm.nih.gov/pubmed/17598130", "http://www.ncbi.nlm.nih.gov/pubmed/10872473", "http://www.ncbi.nlm.nih.gov/pubmed/8460633", "http://www.ncbi.nlm.nih.gov/pubmed/15921166", "http://www.ncbi.nlm.nih.gov/pubmed/18076105" ]

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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" ]

[ "Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia" ]

[ "Recessive hypolipidemia" ]

[ "Although it appears by now that the main lipid pathways have been uncovered, and that only modulators or adaptor proteins such as those encoded by LDLRAP1, APOA5, ANGPLT3/4, and PCSK9 are currently being discovered", "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. ", " 4 related individuals with primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss-of-function mutations.", "Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24798233", "http://www.ncbi.nlm.nih.gov/pubmed/22062970" ]

[]

[]

[ "Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. ", "The introduction of anti-TNF therapy has dramatically improved the outlook for patients suffering from a number of inflammatory conditions including rheumatoid arthritis and inflammatory bowel disease. Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients.", "Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. A substantial proportion of Rheumatoid Arthritis patients (approximately 30-40%) fail to respond to anti-TNF therapies.", "Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients.", "Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. ", "strategies blocking tumor necrosis factor (anti-tnf) have proven very successful in patients with rheumatoid arthritis (ra) , showing beneficial effects in approximately 50-60% of the patients. . this , a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies . ", "Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. The introduction of anti-TNF therapy has dramatically improved the outlook for patients suffering from a number of inflammatory conditions including rheumatoid arthritis and inflammatory bowel disease.", "treatment strategies blocking tumor necrosis factor (anti-tnf) have proven very successful in patients with rheumatoid arthritis (ra), showing beneficial effects in approximately 50-60% of the patients.", "Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. ", "Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients.", "Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies." ]

[ "50-60%" ]

[ "Despite this, a substantial proportion of patients (approximately 30-40%) fail to respond to these potentially toxic and expensive therapies. ", "Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22044414", "http://www.ncbi.nlm.nih.gov/pubmed/24040234" ]

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[]

[ "Semaglutide is glucagon-like peptide-1 receptor agonist that is being used for the treatment of type 2 diabetes mellitus." ]

[ "Type 2 diabetes mellitus", "TYPE 2 DIABETES" ]

[ "INTRODUCTION: Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) are increasingly being used for the treatment of type 2 diabetes mellitus, but consideration of benefits and potential adverse events is required. This review examines the state of glycemic control, weight loss, blood pressure, and tolerability, as well as the current debate about the safety of GLP-1 RAs, including risk of pancreatitis, pancreatic cancer, and thyroid cancer.METHODS: A MEDLINE search (2010-2015) identified publications that discussed longer-acting GLP-1 RAs. Search terms included GLP-1 receptor agonists, liraglutide, exenatide, lixisenatide, semaglutide, dulaglutide, albiglutide, efficacy, safety, pancreatitis, pancreatic cancer, and thyroid cancer.", " Seven trials have been published that have established CV safety for three DPP-4 inhibitors (alogliptin, saxagliptin, and sitagliptin), three GLP-1 receptor agonists (liraglutide, lixisenatide, and semaglutide), and one sodium-glucose cotransporter-2 inhibitor (empagliflozin). Three of those studies also established superiority with liraglutide, empagliflozin, and semaglutide at reducing the composite primary endpoint of major CV events (CV death, nonfatal myocardial infarction, and nonfatal stroke). ", "RECENT FINDINGS: In response to guidance issued by the Food and Drug Administration, thousands of patients have been enrolled in large randomized trials evaluating the cardiovascular effects of the three newest diabetes drug classes: glucagon-like peptide-1 (GLP-1) receptor agonists, sodium glucose cotransporter 2 (SGLT-2) inhibitors, and dipeptidyl peptidase-4 (DPP-4) inhibitors. Two studies of GLP-1 receptor agonists-one of liraglutide and one of semaglutide-have shown cardiovascular benefit relative to placebo, and one study of the SGLT-2 inhibitor empagliflozin has shown benefit.", "New antidiabetic drugs are being developed today that expand the range of pharmacological intervention, in particular for patients with type 2 diabetes (imeglimin, semaglutide, dulaglutide, FGF 21 analogue).", "The effect of semaglutide, a once-weekly human glucagon-like peptide-1 (GLP-1) analog in development for type 2 diabetes (T2D), on the bioavailability of a combined oral contraceptive was investigated. ", "Conclusions In patients with type 2 diabetes who were at high cardiovascular risk, the rate of cardiovascular death, nonfatal myocardial infarction, or nonfatal stroke was significantly lower among patients receiving semaglutide than among those receiving placebo, an outcome that confirmed the noninferiority of semaglutide.", "Postmenopausal women with T2D (n = 43) on diet/exercise ± metformin received ethinylestradiol (0.03 mg)/levonorgestrel (0.15 mg) once daily for 8 days before (semaglutide-free) and during (steady-state 1.0 mg) semaglutide treatment (subcutaneous once weekly; dose escalation: 0.25 mg 4 weeks; 0.5 mg 4 weeks; 1.0 mg 5 weeks).", "Semaglutide and Cardiovascular Outcomes in Patients with Type 2 Diabetes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25475122", "http://www.ncbi.nlm.nih.gov/pubmed/22675341", "http://www.ncbi.nlm.nih.gov/pubmed/26308095", "http://www.ncbi.nlm.nih.gov/pubmed/27432074", "http://www.ncbi.nlm.nih.gov/pubmed/27817160", "http://www.ncbi.nlm.nih.gov/pubmed/27863704", "http://www.ncbi.nlm.nih.gov/pubmed/27921428", "http://www.ncbi.nlm.nih.gov/pubmed/27042424", "http://www.ncbi.nlm.nih.gov/pubmed/27835045", "http://www.ncbi.nlm.nih.gov/pubmed/27633186", "http://www.ncbi.nlm.nih.gov/pubmed/27183953", "http://www.ncbi.nlm.nih.gov/pubmed/26642233", "http://www.ncbi.nlm.nih.gov/pubmed/26358288", "http://www.ncbi.nlm.nih.gov/pubmed/26694823" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019468" ]

[ "The acronym SUDEP refers to Sudden Unexpected Death in Epilepsy", " sudden unexpected death in epilepsy (SUDEP), Sudden Unexpected Death in Epilepsy (SUDEP)", "Sudden Unexpected Death in Epilepsy (SUDEP)", "Sudden Unexpected Death in Epilepsy (SUDEP). sudden unexpected death in epilepsy (SUDEP),. " ]

[ "Sudden Unexpected Death in Epilepsy (SUDEP)" ]

[ "Sudden Unexpected Death in Epilepsy (SUDEP)", " sudden unexpected death in epilepsy (SUDEP),", "Sudden unexpected death in epilepsy (SUDEP) is the most important direct seizure-related cause of death, and most cases usually occur in patients with intractable, longstanding epilepsy.", "Sudden unexpected death in epilepsy (SUDEP): what do patients think?", "OBJECTIVES: Sudden unexpected death in epilepsy (SUDEP) is a major cause of mortality in epilepsy.", "In 11 patients cause of death was sudden unexpected death in epilepsy (SUDEP).", "Epilepsy-related death, particularly sudden unexpected death in epilepsy (SUDEP), is still underestimated by healthcare professionals and this may reflect the mistaken belief that epilepsy is a benign condition", "Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms", "Sudden unexpected death in epilepsy (SUDEP) is a - probably heterogeneous - condition where patients with epilepsy die suddenly, almost certainly during a seizure and with no other identified cause of death.", "Epilepsy, the commonest serious neurological condition, is associated with an increased risk in premature deaths, including an estimated 500 sudden unexpected deaths (SUDEP) per year in the UK.", "Epilepsy is the most common serious neurological condition and sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death.", "Epilepsy is the most common serious neurological condition and sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death.", "Sudden unexpected death in epilepsy (SUDEP) is an exceptionally difficult condition to study in humans.", "Sudden unexpected death in epilepsy (SUDEP): don't ask, don't tell?", "Many individuals with epilepsy, as well as their partners, relatives, and friends, are unaware of the risk for sudden unexpected death in epilepsy (SUDEP).", "The baboon represents a natural model for genetic generalized epilepsy and sudden unexpected death in epilepsy (SUDEP).", "Sudden unexpected death in epilepsy (SUDEP) refers to the sudden death of a seemingly healthy individual with epilepsy, usually occurring during, or immediately after, a tonic-clonic seizure.", "This condition is called sudden unexpected death in epilepsy (SUDEP), and it accounts for a large proportion of deaths among people with epilepsy.", "Epilepsy-related death, particularly sudden unexpected death in epilepsy (SUDEP), is still underestimated by healthcare professionals and this may reflect the mistaken belief that epilepsy is a benign condition.", "Sudden unexpected death in epilepsy (SUDEP) i", " sudden unexpected death in epilepsy (SUDEP)", "sudden unexpected death in epilepsy (SUDEP) f", "udden unexpected death in epilepsy (SUDEP) ", "sudden and unexpected death in epilepsy (SUDEP) ", "Sudden unexpected death in epilepsy (SUDEP) ", "sudden unexpected death in epilepsy (SUDEP)", "udden unexpected death in epilepsy (SUDEP) i", "Sudden unexplained death in epilepsy (SUDEP)", "udden unexpected death in epilepsy (SUDEP) ", " sudden unexpected death in epilepsy (SUDEP)", "udden unexpected death in epilepsy (SUDEP) is the leading cause for death in individuals with epilepsy. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19623466", "http://www.ncbi.nlm.nih.gov/pubmed/25323494", "http://www.ncbi.nlm.nih.gov/pubmed/23099115", "http://www.ncbi.nlm.nih.gov/pubmed/19713869", "http://www.ncbi.nlm.nih.gov/pubmed/22042178", "http://www.ncbi.nlm.nih.gov/pubmed/25499158", "http://www.ncbi.nlm.nih.gov/pubmed/22191982", "http://www.ncbi.nlm.nih.gov/pubmed/19666211", "http://www.ncbi.nlm.nih.gov/pubmed/15824334", "http://www.ncbi.nlm.nih.gov/pubmed/19909334", "http://www.ncbi.nlm.nih.gov/pubmed/25253292", "http://www.ncbi.nlm.nih.gov/pubmed/17433051", "http://www.ncbi.nlm.nih.gov/pubmed/24348119", "http://www.ncbi.nlm.nih.gov/pubmed/25600783", "http://www.ncbi.nlm.nih.gov/pubmed/23962523", "http://www.ncbi.nlm.nih.gov/pubmed/26387918", "http://www.ncbi.nlm.nih.gov/pubmed/27131289", "http://www.ncbi.nlm.nih.gov/pubmed/19232547", "http://www.ncbi.nlm.nih.gov/pubmed/26038597", "http://www.ncbi.nlm.nih.gov/pubmed/12862502", "http://www.ncbi.nlm.nih.gov/pubmed/26924854", "http://www.ncbi.nlm.nih.gov/pubmed/19130900", "http://www.ncbi.nlm.nih.gov/pubmed/24236903", "http://www.ncbi.nlm.nih.gov/pubmed/16421121", "http://www.ncbi.nlm.nih.gov/pubmed/21737136", "http://www.ncbi.nlm.nih.gov/pubmed/15129839" ]

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[ "The proteins Nrd1, Rap1, Trf4, Rrp6, Ssu72, Cstf64, Pcf11 and PAP are the major components of the 3' cleavage and polyadenylation complex." ]

[ "Nrd1", "Rap1", "Trf4", "Rrp6", "Ssu72", "PAP", "Cstf64", "Pcf11" ]

[ "Gene loops have been described in different organisms from yeast to human and form through interaction between components of the transcription pre-initiation complex and Ssu72, a member of the 3' end cleavage and polyadenylation complex", "A large cleavage and polyadenylation complex containing the major poly(A) polymerase Pap1 produces mRNA 3' ends, whereas those of nonpolyadenylated snoRNAs in yeast are formed either by endonucleolytic cleavage or by termination, followed by trimming by the nuclear exosome.", "Poly(A) tails are added by Pap1 to both forms, whereas the alternative poly(A) polymerase Tfr4 adenylates major precursors and processing intermediates to facilitate further polyadenylation by Pap1 and maturation by the exosome/Rrp6", "A more important role of Trf4/TRAMP, however, is to enhance Nrd1 association with snoRNA genes.", "Screening crude natural product extracts with this technology has resulted in the identification of a novel family of antifungal natural products, named the parnafungins, which inhibit the enzyme polyadenosine polymerase (PAP), a key component of the mRNA cleavage and polyadenylation complex.", "We show that phosphorylation of TFIIB at serine 65 regulates the interaction between TFIIB and the CstF-64 component of the CstF 3' cleavage and polyadenylation comple", "We now show that Pcf11, a component of the cleavage and polyadenylation complex (CPAC), is also generally required for NRD-dependent transcription termination through the action of its C-terminal domain (CTD)-interacting domain (CID)", "Like the yeast counterpart, mammalian Ssu72 associates with TFIIB and the yeast cleavage/polyadenylation factor Pta1, and exhibits intrinsic phosphatase activity.", "We also provide evidence that Pti1p probably acts by uncoupling cleavage and polyadenylation, and functions in coordination with the Nrd1p-dependent pathway for 3' end formation of non-polyadenylated transcripts.", "Like the yeast counterpart, mammalian Ssu72 associates with TFIIB and the yeast cleavage/polyadenylation factor Pta1, and exhibits intrinsic phosphatase activity." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19049464", "http://www.ncbi.nlm.nih.gov/pubmed/23514951", "http://www.ncbi.nlm.nih.gov/pubmed/25877920", "http://www.ncbi.nlm.nih.gov/pubmed/20226668", "http://www.ncbi.nlm.nih.gov/pubmed/18951092" ]

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[ "Koos grading system is used for vestibular schwannoma." ]

[ "vestibular schwannoma" ]

[ "The patients had Koos Grade I or II tumors and American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) Class D hearing status preoperatively. ", "METHODS: This is a retrospective review of 22 patients with VS Koos grade III and IV who were treated with STR followed by SRS. ", " VS was characterized by its size (Koos classification) and the presence or not of a cystic component.", "MAIN OUTCOME MEASURES: All data recorded were reviewed to access age, sex, tumor type, and tumor size according to the Koos classification and presenting symptoms. ", "Facial nerve preservation surgery for koos grade 3 and 4 vestibular schwannomas.", "Safety and Efficacy of Gamma Knife Radiosurgery for the Management of Koos Grade 4 Vestibular Schwannomas.", "In all 333 patients microsurgical vestibular schwannoma (Koos grade 1: 12, grade 2: 34, grade 3: 62, and grade 4: 225) removal was performed.", "Facial nerve preservation surgery for koos grade 3 and 4 vestibular schwannomas.", "To report, in a retrospective study, outcomes for large Koos grade 3 and 4 vestibular schwannomas.", "Safety and Efficacy of Gamma Knife Radiosurgery for the Management of Koos Grade 4 Vestibular Schwannomas." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26967786", "http://www.ncbi.nlm.nih.gov/pubmed/25811349", "http://www.ncbi.nlm.nih.gov/pubmed/26606668", "http://www.ncbi.nlm.nih.gov/pubmed/25181431", "http://www.ncbi.nlm.nih.gov/pubmed/27513938", "http://www.ncbi.nlm.nih.gov/pubmed/24797568", "http://www.ncbi.nlm.nih.gov/pubmed/15179293", "http://www.ncbi.nlm.nih.gov/pubmed/21665381", "http://www.ncbi.nlm.nih.gov/pubmed/23160632", "http://www.ncbi.nlm.nih.gov/pubmed/27453796", "http://www.ncbi.nlm.nih.gov/pubmed/24987677" ]

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[ "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has a recessive X-linked inheritance." ]

[ "recessive X-linked inheritance" ]

[ "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has an X-linked inheritance.", " The high manifestation of G6PD deficiency in women may be due to the preferential expression of the G6PD-deficient gene and X-inactivation of the normal gene, and/or to the presence of an 'enhancer' gene that makes the expression of the G6PD deficiency more likely. ", "Study of the deficiency pattern amongst family members of the enzyme deficient subjects confirmed the X-linked inheritance of G-6-PD deficiency.", " The investigation of the patient's whole family showed the typical recessive X-linked inheritance of this enzyme-defect. ", "After having described in detail the pathophysiology, symptomatology, X-chromosomal inheritance and some laboratory methods in detecting G-6-PD-deficiency by demonstrating a case of favism (Schulz et al. 1977), the authors now discuss the particularities of the enzyme deficiency in the newborn. T", "The genetic pattern is consistent with x-linked recessive inheritance and the defect is associated with drug (primaquine) induced haemolysis. ", "UNLABELLED: 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 one of the most common human genetic abnormalities, and it has a significant prevalence in the male population (X chromosome linked).", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has an X-linked inheritance", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive genetic defect that can cause hemolytic crisis.", "Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by a mutation in the G6PD gene on Xq28.", "Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive hereditary disease characterised by abnormally low levels of G6PD." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/1188317", "http://www.ncbi.nlm.nih.gov/pubmed/6350992", "http://www.ncbi.nlm.nih.gov/pubmed/15226563", "http://www.ncbi.nlm.nih.gov/pubmed/26275698", "http://www.ncbi.nlm.nih.gov/pubmed/12169625", "http://www.ncbi.nlm.nih.gov/pubmed/24460025", "http://www.ncbi.nlm.nih.gov/pubmed/631693", "http://www.ncbi.nlm.nih.gov/pubmed/24865682", "http://www.ncbi.nlm.nih.gov/pubmed/11261779", "http://www.ncbi.nlm.nih.gov/pubmed/11271380", "http://www.ncbi.nlm.nih.gov/pubmed/10066026", "http://www.ncbi.nlm.nih.gov/pubmed/1634454", "http://www.ncbi.nlm.nih.gov/pubmed/10698963", "http://www.ncbi.nlm.nih.gov/pubmed/24943486", "http://www.ncbi.nlm.nih.gov/pubmed/25116429", "http://www.ncbi.nlm.nih.gov/pubmed/1953691", "http://www.ncbi.nlm.nih.gov/pubmed/12737943" ]

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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_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", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D042843", "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_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" ]

[ "EP-DNN and DEEP." ]

[ "EP-DNN", "DEEP" ]

[ "EP-DNN: A Deep Neural Network-Based Global Enhancer Prediction Algorithm", "We present EP-DNN, a protocol for predicting enhancers based on chromatin features, in different cell types", "DEEP: a general computational framework for predicting enhancers", " In this study we developed DEEP, a novel ensemble prediction framework. DEEP integrates three components with diverse characteristics that streamline the analysis of enhancer's properties in a great variety of cellular conditions. In our method we train many individual classification models that we combine to classify DNA regions as enhancers or non-enhancers. DEEP uses features derived from histone modification marks or attributes coming from sequence characteristics.", " in this paper, we use recent state-of-the-art Deep Learning methods and develop a deep neural network (DNN)-based architecture, called EP-DNN, to predict the presence and types of enhancers in the human genome.", "In this paper, we developed EP-DNN, which has high accuracy of prediction, with validation rates above 90 % for the operational region of enhancer prediction for all four cell lines that we studied, outperforming DEEP-ENCODE and RFECS", "We present EP-DNN, a protocol for predicting enhancers based on chromatin features, in different cell types. Specifically, we use a deep neural network (DNN)-based architecture to extract enhancer signatures in a representative human embryonic stem cell type (H1) and a differentiated lung cell type (IMR90)", "We find that EP-DNN has superior accuracy with a validation rate of 91.6%, relative to 85.3% for DEEP-ENCODE and 85.5% for RFECS, for a given number of enhancer predictions and also scales better for a larger number of enhancer predictions.", "PEDLA: predicting enhancers with a deep learning-based algorithmic framework.", "DEEP: a general computational framework for predicting enhancers.", "PEDLA: predicting enhancers with a deep learning-based algorithmic framework.", "EP-DNN: A Deep Neural Network-Based Global Enhancer Prediction Algorithm.", "We developed a deep learning-based algorithmic framework named PEDLA (https://github.com/wenjiegroup/PEDLA), which can directly learn an enhancer predictor from massively heterogeneous data and generalize in ways that are mostly consistent across various cell types/tissues." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25378307", "http://www.ncbi.nlm.nih.gov/pubmed/27929098", "http://www.ncbi.nlm.nih.gov/pubmed/26091399", "http://www.ncbi.nlm.nih.gov/pubmed/27490187", "http://www.ncbi.nlm.nih.gov/pubmed/27329130" ]

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

[ "Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains", "beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains.", "Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of -globin chains. ", "Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains." ]

[ "no" ]

[ "Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains", "The beta-thalassemia syndromes are a heterogeneous group of genetic disorders characterized by reduced or absent expression of the beta-globin gene" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25230702" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D055544", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017086" ]

[ "Yes, diphosphatidylglycerol (cardiolipin) is a phospholipid of the mitochondrial membranes." ]

[ "yes" ]

[ "A unique organelle for studying membrane biochemistry is the mitochondrion whose functionality depends on a coordinated supply of proteins and lipids. Mitochondria are capable of synthesizing several lipids autonomously such as phosphatidylglycerol, cardiolipin and in part phosphatidylethanolamine, phosphatidic acid and CDP-diacylglycerol.", "A small decrease of diphosphatidylglycerol also occurred in the hepatoma mitochondria inner membrane. ", "Diphosphatidylglycerol was confined to the mitochondrial fraction, where it represented about 7% of the total phosphoacylglycerols. ", "Mitochondrial membranes were isolated from the myocardium of young (4-month-old) and aged (33-month-old) male Long-Evans rats and compared in terms of cholesterol content and phospholipid and fatty acid composition. In aged rats, as compared to young, the major observations include: markedly higher cholesterol content; increased percentage of sphingomyelin and diphosphatidylglycerol (cardiolipin); ", "The polyglycerophosphatides (typified by diphosphatidylglycerol) were apparently synthesized in situ by intramitochondrial membrane-bound enzymes using CDP-diglycerides as intermediates. ", "Both the mitochondrial and microsomal fractions contained significant proportions of solvent front phospholipid (SFP) and whereas the mitochondrial SFP displayed the relatively unsaturated fatty acid composition characteristic of diphosphatidylglycerol (cardiolipin), the fatty acids of the microsomal SFP were distinctly more saturated.", "Ten to 15% of microsomal radioactive CDP-diglycerides was transferred to mitochondrial membranes and incorporated into mitochondrial radioactive lipids identified as phosphatidylglycerol, phosphatidylglycerophosphate, and, when [14C]linoleoyl CDP-diglycerides were used, diphosphatidylglycerol (cardiolipin).", "The enzyme responsible for the conversion of phosphatidylglycerol to diphosphatidylglycerol (cardiolipin) in the presence of cytidine diphosphate diacylglycerol is firmly associated with mitochondrial membranes and is not extracted with hypotonic or hypertonic media or with nonionic detergents.", "The mechanism of cardiolipin (diphosphatidylglycerol) biosynthesis was examined in mitochondria and outer and inner mitochondrial membranes prepared from guinea pig and rat livers to determine whether this formation from phosphatidylglycerol was absolutely dependent on cytidinediphosphodiglyceride, as previously reported for intact mitochondria.", "In isolated mitochondrial outer membranes, cardiolipin (diphosphatidylglycerol) increased CPT1 activity 4-fold and the Km for carnitine 6-fold.", "Ten to 15% of microsomal radioactive CDP-diglycerides was transferred to mitochondrial membranes and incorporated into mitochondrial radioactive lipids identified as phosphatidylglycerol, phosphatidylglycerophosphate, and, when [14C]linoleoyl CDP-diglycerides were used, diphosphatidylglycerol (cardiolipin).", "90% or more of the phospholipid, cardiolipin was found in the mitochondrial membranes of wild type and petite yeast.", "Furthermore, the same mechanism for the biosynthesis of cardiolipin was operational in the outer and inner mitochondrial membranes.", "The mechanism of cardiolipin (diphosphatidylglycerol) biosynthesis was examined in mitochondria and outer and inner mitochondrial membranes prepared from guinea pig and rat livers to determine whether this formation from phosphatidylglycerol was absolutely dependent on cytidinediphosphodiglyceride, as previously reported for intact mitochondria", "Cardiolipin (CL) is a key phospholipid in mitochondrial membranes, playing important roles in maintaining the functional integrity and dynamics of mitochondria in animals and yeasts", "Cardiolipin, the specific phospholipid of mitochondria, is involved in the biogenesis, the dynamics, and the supramolecular organization of mitochondrial membranes", "Cardiolipin (CL), the signature phospholipid of mitochondrial membranes, is crucial for both mitochondrial function and cellular processes outside of the mitochondria", "Since it has been recognized that mitochondria are crucial not only for energy metabolism but also for other cellular functions, there has been a growing interest in cardiolipin, the specific phospholipid of mitochondrial membranes", "Cardiolipin, the main anionic phospholipid in mitochondrial membranes, is expected to be a determinant in this adaptive mechanism since it modulates the activity of most membrane proteins", "Ten to 15% of microsomal radioactive CDP-diglycerides was transferred to mitochondrial membranes and incorporated into mitochondrial radioactive lipids identified as phosphatidylglycerol, phosphatidylglycerophosphate, and, when [14C]linoleoyl CDP-diglycerides were used, diphosphatidylglycerol (cardiolipin)", "Cardiolipin is normally localized to the inner mitochondrial membrane; however, when cardiolipin becomes externalized to the surface of dysregulated mitochondria, it promotes inflammasome activation and stimulates the elimination of damaged or nonfunctional mitochondria by mitophagy", "In isolated mitochondrial outer membranes, cardiolipin (diphosphatidylglycerol) increased CPT1 activity 4-fold and the Km for carnitine 6-fold. ", "Increasing levels of cardiolipin differentially influence packing of phospholipids found in the mitochondrial inner membrane.", "Here, we used Saccharomyces cerevisiae subjected to conditions that affect mitochondrial metabolism as a model to determine the possible role of cardiolipin in stress adaptation. ", "This decline of respiration was attributed to a progressive diminution of the number of mitochondria in copper-treated cells, based on the demonstration of the concomitant decline of (1) cardiolipin (diphosphatidylglycerol) and cytochrome aa3 (cytochrome oxidase), two specific markers of mitochondrial inner membrane, and (2) fumarase activity, a specific marker of mitochondrial matrix space.", "Diphosphatidylglycerol (DPG) or cardiolipin, a specific component of the inner mitochondrial membrane, represents about 4% of the total lipid content.", "Experimental results confirmed that the biosynthesis of cardiolipin, from the membrane-bound radioactive phosphatidylglycerol in intact mitochondria isolated from guinea pig and rat liver, was absolutely dependent on CDP-diglycerides and required the addition of divalent cations.", "We have shown that decrease of cardiolipin in mitochondrial membrane occurs early during ischemia, and only during the irreversible phase of ischemia are phosphatidylethanolamine and phosphatidylcholine broken down.", "Partial purification of diphosphatidylglycerol synthetase from liver mitochondrial membranes.", "A small decrease of diphosphatidylglycerol also occurred in the hepatoma mitochondria inner membrane." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21599656", "http://www.ncbi.nlm.nih.gov/pubmed/26028302", "http://www.ncbi.nlm.nih.gov/pubmed/24905496", "http://www.ncbi.nlm.nih.gov/pubmed/7378435", "http://www.ncbi.nlm.nih.gov/pubmed/4322761", "http://www.ncbi.nlm.nih.gov/pubmed/2397096", "http://www.ncbi.nlm.nih.gov/pubmed/24007978", "http://www.ncbi.nlm.nih.gov/pubmed/7794966", "http://www.ncbi.nlm.nih.gov/pubmed/3668386", "http://www.ncbi.nlm.nih.gov/pubmed/8143741", "http://www.ncbi.nlm.nih.gov/pubmed/23200781", "http://www.ncbi.nlm.nih.gov/pubmed/26301254", "http://www.ncbi.nlm.nih.gov/pubmed/6257342", "http://www.ncbi.nlm.nih.gov/pubmed/6509920", "http://www.ncbi.nlm.nih.gov/pubmed/26396268", "http://www.ncbi.nlm.nih.gov/pubmed/6807345", "http://www.ncbi.nlm.nih.gov/pubmed/16971584", "http://www.ncbi.nlm.nih.gov/pubmed/9370332", "http://www.ncbi.nlm.nih.gov/pubmed/20336283", "http://www.ncbi.nlm.nih.gov/pubmed/1213878", "http://www.ncbi.nlm.nih.gov/pubmed/9843887", "http://www.ncbi.nlm.nih.gov/pubmed/7459841", "http://www.ncbi.nlm.nih.gov/pubmed/3548756", "http://www.ncbi.nlm.nih.gov/pubmed/22634369", "http://www.ncbi.nlm.nih.gov/pubmed/6717095", "http://www.ncbi.nlm.nih.gov/pubmed/25182746", "http://www.ncbi.nlm.nih.gov/pubmed/3718705", "http://www.ncbi.nlm.nih.gov/pubmed/15460113", "http://www.ncbi.nlm.nih.gov/pubmed/25843549", "http://www.ncbi.nlm.nih.gov/pubmed/1550861", "http://www.ncbi.nlm.nih.gov/pubmed/24443516", "http://www.ncbi.nlm.nih.gov/pubmed/20637181", "http://www.ncbi.nlm.nih.gov/pubmed/8977117", "http://www.ncbi.nlm.nih.gov/pubmed/1247555", "http://www.ncbi.nlm.nih.gov/pubmed/24769127" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002308", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008566", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008563", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4244279", "http://www.biosemantics.org/jochem#4001026", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008928", "http://www.biosemantics.org/jochem#4244279", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D051336" ]

[ "Studies do show a correlation of PTSD-related accelerated aging in DNA methylation patterns." ]

[ "no" ]

[ "Using pre-deployment SKA2 methylation levels and childhood trauma exposure, we found that the previously published suicide prediction rule significantly predicted post-deployment PTSD symptoms (AUC=0.66, 95% CI: 0.53-0.79) with an optimal sensitivity of 0.81 and specificity of 0.91. Permutation analysis using random methylation loci supported these findings. Together, these data establish the importance of SKA2 for cortisol stress responsivity and the development of PTSD and provide further evidence that SKA2 is a promising biomarker for stress-related disorders including PTSD.", " Results provide novel support for PTSD-related accelerated aging in DNAm and extend the evidence base of known DNAm age correlates to the domains of neural integrity and cognition.", "We investigated serum DNA methylation patterns in genomic repetitive elements, LINE-1 and Alu, for post-traumatic stress disorder (PTSD) cases and controls who were US military service members recently deployed to Afghanistan or Iraq.", "In light of its role in glucocorticoid receptor transactivation, we investigated whether SKA2 DNA methylation influences cortisol stress reactivity and is involved in the development of post-traumatic stress disorder (PTSD).", "These results suggest that alterations in global methylation pattern are involved in behavioural adaptation to environmental stress and pinpoint Dlgap2 as a possible target in PTSD.", "Here we examined whether there was a link between an established rat model of post-traumatic stress disorder (PTSD) and Bdnf DNA methylation", "We investigated serum DNA methylation patterns in genomic repetitive elements, LINE-1 and Alu, for post-traumatic stress disorder (PTSD) cases and controls who were US military service members recently deployed to Afghanistan or Iraq.Cases (n = 75) had a postdeployment diagnosis of PTSD", "DNA methylation in repetitive elements and post-traumatic stress disorder: a case-control study of US military service members", "Here we examined whether there was a link between an established rat model of post-traumatic stress disorder (PTSD) and Bdnf DNA methylation. ", "DNA methylation in repetitive elements and post-traumatic stress disorder: a case-control study of US military service members.", "AIM: We investigated serum DNA methylation patterns in genomic repetitive elements, LINE-1 and Alu, for post-traumatic stress disorder (PTSD) cases and controls who were US military service members recently deployed to Afghanistan or Iraq. ", "Together, these results suggest that psychosocial stress may alter global and gene-specific DNA methylation patterns potentially associated with peripheral immune dysregulation.", "DNA methylation in vulnerability to post-traumatic stress in rats: evidence for the role of the post-synaptic density protein Dlgap2.", "Subjects with PTSD showed a higher DNA methylation of four CpG sites at the BDNF promoter compared with those without PTSD", "Cumulatively, the data suggest that epigenetic variation at SKA2 mediates vulnerability to suicidal behaviors and PTSD through dysregulation of the HPA axis in response to stress." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27886370", "http://www.ncbi.nlm.nih.gov/pubmed/21508515", "http://www.ncbi.nlm.nih.gov/pubmed/25065861", "http://www.ncbi.nlm.nih.gov/pubmed/21714072", "http://www.ncbi.nlm.nih.gov/pubmed/26361058", "http://www.ncbi.nlm.nih.gov/pubmed/22332656", "http://www.ncbi.nlm.nih.gov/pubmed/21306736", "http://www.ncbi.nlm.nih.gov/pubmed/26305478", "http://www.ncbi.nlm.nih.gov/pubmed/26447678", "http://www.ncbi.nlm.nih.gov/pubmed/19793403" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D040921", "http://www.disease-ontology.org/api/metadata/DOID:2055", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013313", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019175" ]

[ "Yes. The Pold3 gene encodes a subunit of the Polδ DNA polymerase complex. Pold3 orthologs are not essential in Saccharomyces cerevisiae or chicken DT40 cells, but the Schizosaccharomyces pombe ortholog is essential. POLD3 also has a specialized role in the repair of broken replication forks, suggesting that POLD3 activity could be particularly relevant for cancer cells enduring high levels of DNA replication stress. In mouse, POLD3 is essential for development and is also required for viability in adult animals.", "yes" ]

[ "yes" ]

[ "The Pold3 gene encodes a subunit of the Polδ DNA polymerase complex. Pold3 orthologs are not essential in Saccharomyces cerevisiae or chicken DT40 cells, but the Schizosaccharomyces pombe ortholog is essential. POLD3 also has a specialized role in the repair of broken replication forks, suggesting that POLD3 activity could be particularly relevant for cancer cells enduring high levels of DNA replication stress. We report here that POLD3 is essential for mouse development and is also required for viability in adult animals.", "We report here that POLD3 is essential for mouse development and is also required for viability in adult animals.", "We report here that POLD3 is essential for mouse development and is also required for viability in adult animals." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27524497" ]

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[]

[ "Romosozumab is humanized monoclonal antibody to sclerostin. It inhibits sclerostin, thereby increasing bone formation and decreasing bone resorption. This dual effect of romosozumab leads to rapid and substantial increases in areal bone mineral density as measured by dual-energy X-ray absorptiometry. It is developed for osteoporosis treatment." ]

[]

[ "The current review will focus on emerging treatments of osteoporosis with the potential of enhanced anabolic effects (romosozumab and abaloparatide) or uncoupling of resorption and formation (odanacatib and romosozumab) as well as the effect of combination therapy.", "Newer anabolic agents are imminent and include an analogue of parathyroid hormone-related protein, abaloparatide, and a humanised monoclonal antibody to an inhibitor of bone formation, romosozumab. ", " Several humanized monoclonal antibodies to sclerostin, including romosozumab and blosozumab, are now in clinical development. ", "Romosozumab, an antibody raised against sclerostin, is a promising bone anabolic agent.", "Romosozumab inhibits sclerostin, thereby increasing bone formation and decreasing bone resorption. This dual effect of romosozumab leads to rapid and substantial increases in areal bone mineral density (aBMD) as measured by dual-energy X-ray absorptiometry (DXA). ", "Phase I and II studies of the two humanized sclerostin monoclonal antibodies, romosozumab and blosozumab, both of which have had positive effects on bone mineral density.", "Romosozumab, an anti-sclerosin antibody, and abaloparatide, a PTH-related peptide analog, are at present in advanced stages of clinical evaluation, so far demonstrating efficaciousness together with a favorable safety profile.", "Romosozumab is a humanized immunoglobulin G2 monoclonal antibody that binds and blocks the action of sclerostin, a protein secreted by the osteocyte and an extracellular inhibitor of canonical Wnt signaling.", "Advances in understanding the mechanisms of action of this signaling molecule have led to the development of a pharmacological inhibitor of sclerostin with potential clinical applications as an osteoanabolic drug for the treatment of osteoporosis.Romosozumab is the first humanized monoclonal sclerostin antibody to be tested in clinical trials", "Update on romosozumab : a humanized monoclonal antibody to sclerostin.", "Multiple doses of sclerostin antibody romosozumab in healthy men and postmenopausal women with low bone mass: a randomized, double-blind, placebo-controlled study.", "AREAS COVERED: Romosozumab is the first humanized monoclonal sclerostin antibody to be tested in clinical trials. ", "The monoclonal antibody romosozumab binds to sclerostin and increases bone formation. ", "Romosozumab (formerly AMG 785/CDP7851) is a monoclonal antibody that blocks sclerostin from inhibiting osteoblast maturation and function. ", "Romosozumab, an antibody raised against sclerostin, is a promising bone anabolic agent. ", "Phase II clinical trials with anti-sclerostin antibodies, romosozumab and blosozumab, demonstrated a marked increase in bone mineral density after one year of treatment.", "Similar to preclinical animal studies with sclerostin antibodies, initial clinical studies show that romosozumab increases bone formation and bone mineral density.EXPERT OPINION: Blocking sclerostin action with romosozumab is a promising new therapeutic approach to osteoanabolic therapy of osteoporosis; efficacy and safety data on large controlled studies are awaited.", "Advances in understanding the mechanisms of action of this signaling molecule have led to the development of a pharmacological inhibitor of sclerostin with potential clinical applications as an osteoanabolic drug for the treatment of osteoporosis.AREAS COVERED: Romosozumab is the first humanized monoclonal sclerostin antibody to be tested in clinical trials.", "Romosozumab (formerly AMG 785/CDP7851) is a monoclonal antibody that blocks sclerostin from inhibiting osteoblast maturation and function.", "The monoclonal antibody romosozumab binds to sclerostin and increases bone formation.METHODS: In a phase 2, multicenter, international, randomized, placebo-controlled, parallel-group, eight-group study, we evaluated the efficacy and safety of romosozumab over a 12-month period in 419 postmenopausal women, 55 to 85 years of age, who had low bone mineral density (a T score of -2.0 or less at the lumbar spine, total hip, or femoral neck and -3.5 or more at each of the three sites).", "Blocking sclerostin action with romosozumab is a promising new therapeutic approach to osteoanabolic therapy of osteoporosis; efficacy and safety data on large controlled studies are awaited..", "Romosozumab is a humanized immunoglobulin G monoclonal antibody that binds and blocks the action of sclerostin, a protein secreted by the osteocyte and an extracellular inhibitor of canonical Wnt signaling." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26768288", "http://www.ncbi.nlm.nih.gov/pubmed/25432357", "http://www.ncbi.nlm.nih.gov/pubmed/26232375", "http://www.ncbi.nlm.nih.gov/pubmed/24272917", "http://www.ncbi.nlm.nih.gov/pubmed/26277199", "http://www.ncbi.nlm.nih.gov/pubmed/27487526", "http://www.ncbi.nlm.nih.gov/pubmed/26557374", "http://www.ncbi.nlm.nih.gov/pubmed/26529924", "http://www.ncbi.nlm.nih.gov/pubmed/26451332", "http://www.ncbi.nlm.nih.gov/pubmed/24433088", "http://www.ncbi.nlm.nih.gov/pubmed/24382002", "http://www.ncbi.nlm.nih.gov/pubmed/24870844", "http://www.ncbi.nlm.nih.gov/pubmed/27510350", "http://www.ncbi.nlm.nih.gov/pubmed/27569204", "http://www.ncbi.nlm.nih.gov/pubmed/26082665", "http://www.ncbi.nlm.nih.gov/pubmed/27641143", "http://www.ncbi.nlm.nih.gov/pubmed/24665957", "http://www.ncbi.nlm.nih.gov/pubmed/26989807", "http://www.ncbi.nlm.nih.gov/pubmed/25799662", "http://www.ncbi.nlm.nih.gov/pubmed/24835636", "http://www.ncbi.nlm.nih.gov/pubmed/24490672", "http://www.ncbi.nlm.nih.gov/pubmed/25669441", "http://www.ncbi.nlm.nih.gov/pubmed/24842796" ]

[]

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

[ "Davidson Trauma Scale is used for evaluation of post-traumatic stress disorder." ]

[ "post-traumatic stress disorder", "PTSD" ]

[ "Besides, to study its scores' evidence of convergent, discriminant, and predictive validity in relation to other resilience questionnaires (Connor Davidson Resilience Scale 10-item version, Situated Subjective Resilience Questionnaire for Adults and Resiliency Questionnaire for Adults) and to variables such as emotions (Modified Differential Emotions Scale), coping (Person-situation Coping Questionnaire for Adults), anxiety and depression (Hospital Anxiety and Depression Scale), posttraumatic growth (Posttraumatic Growth Inventory), perceived stress (Perceived Stress Scale) and posttraumatic stress (Davidson Trauma Scale), correlation and regression analyses were conducted.", "Using the normalized population mean of 50 on the SF-36 MH domain score as a cut-off, positive predictive values were 16 and 55% for substantial depression; 20 and 68% for substantial anxiety (Depression Anxiety Stress Scales and HADS, respectively); and 40, 44, and 67% for substantial PTSD symptoms (IES-R, IES, and Davidson Trauma Scale, respectively).", "METHOD: A randomly selected representative sample of inmates in the Puerto Rico correctional system (N = 1,179) was assessed with the Spanish-language Wender Utah Rating Scale (WURS); the Composite International Diagnostic Interview (CIDI) modules for lifetime/current major depression disorder (MDD), generalized anxiety disorder (GAD), and SUD; the Davidson Trauma Scale (DTS; posttraumatic stress disorder [PTSD]); and self-reports of in-site high-risk behaviors.", "After correcting for multiple comparisons, no significant effects were observed on any of the outcomes among the NHW sample; however, within the NHB sample, significant gene × environment (G × E) interactions were observed for lifetime PTSD (P = .0029) and PTSD symptom severity (P = .0009). In each case, the APOE ε4 allele had no effect on the outcomes when combat exposure was low; however, when combat exposure was high, an additive effect was observed such that ε4 homozygotes exposed to high levels of combat reported the highest rates of PTSD (92%) and the worst symptom severity scores on the Davidson Trauma Scale (M = 79.5)", "Early prognostic screening for posttraumatic stress disorder with the Davidson Trauma Scale and the SPAN.", "The Davidson Trauma Scale (DTS) was developed as a self-rating for use in diagnosing and measuring symptom severity and treatment outcome in post-traumatic stress disorder (PTSD); 630 subjects were identified by random digit dialing and evaluated for a history of trauma.", "The purpose of this paper is to assess the reliability and validity of the Spanish version of the Davidson trauma scale (DTS-S) and to determine the prevalence and correlates of post-traumatic stress disorder (PTSD) symptoms in a non-clinical random sample of prison inmates.Probabilistic samples of 1,179 inmates from 26 penal institutions in Puerto Rico were selected using a multistage sampling design", "Remission in post-traumatic stress disorder (PTSD): effects of sertraline as assessed by the Davidson Trauma Scale, Clinical Global Impressions and the Clinician-Administered PTSD scale.", "The Davidson Trauma Scale (DTS) was developed as a self-rating for use in diagnosing and measuring symptom severity and treatment outcome in post-traumatic stress disorder (PTSD); 630 subjects were identified by random digit dialing and evaluated for a history of trauma. ", "Symptoms were assessed at sequential time points by the Structured Interview for PTSD (SIP), a clinician interview based assessment, and a self-report scale, the Davidson Trauma Scale (DTS). ", "The present study focused on platelet serotonin (5-HT) concentration and symptoms of comorbid depression in war veterans with or without PTSD.PTSD and depression were evaluated using Clinician Administered PTSD Scale, Davidson Trauma Scale, Montgomery-Asberg Depression Rating Scale and Hamilton Anxiety Scale.", "Although rates of trauma and PTSD are higher in those with bipolar disorder than in the general population, little is known about differences across bipolar subtypes.Using the NIMH STEP-BD dataset (N=3158), this study evaluated whether there were baseline differences in the prevalence of PTSD between participants with bipolar disorder I (BDI) and bipolar disorder II (BDII), using the MINI and the Davidson Trauma Scale.", "We also investigated the interaction between the genetic variants to determine whether these variables and the interactions between the variables influenced the severity of PTSD symptoms.PTSD symptoms were quantitatively assessed using the Davidson Trauma Scale (DTS) in 150 participants from an at-risk South African population.", "Using the normalized population mean of 50 on the SF-36 MH domain score as a cut-off, positive predictive values were 16 and 55% for substantial depression; 20 and 68% for substantial anxiety (Depression Anxiety Stress Scales and HADS, respectively); and 40, 44, and 67% for substantial PTSD symptoms (IES-R, IES, and Davidson Trauma Scale, respectively).", "The Davidson Trauma Scale was completed at 1 (n = 145), 6 (n = 106), 12 (n = 94), and 24 (n = 66) months postdischarge to assess symptoms of PTSD.", "The Davidson Trauma Scale (DTS) is a validated, 17-item, brief global assessment scale for posttraumatic stress disorder (PTSD).", "Evaluation of PTSD symptoms using the Davidson Trauma Scale (DTS) and General Health Questionnaire (GHQ) in a sample of 56 patients admitted to an emergency room of a general hospital, and assessment of PTSD symptoms in relatives of the patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16600574", "http://www.ncbi.nlm.nih.gov/pubmed/25049338", "http://www.ncbi.nlm.nih.gov/pubmed/19268914", "http://www.ncbi.nlm.nih.gov/pubmed/26502199", "http://www.ncbi.nlm.nih.gov/pubmed/9122295", "http://www.ncbi.nlm.nih.gov/pubmed/17224720", "http://www.ncbi.nlm.nih.gov/pubmed/27418378", "http://www.ncbi.nlm.nih.gov/pubmed/11891997", "http://www.ncbi.nlm.nih.gov/pubmed/21034691", "http://www.ncbi.nlm.nih.gov/pubmed/23212598", "http://www.ncbi.nlm.nih.gov/pubmed/25763455", "http://www.ncbi.nlm.nih.gov/pubmed/22209270", "http://www.ncbi.nlm.nih.gov/pubmed/19282141", "http://www.ncbi.nlm.nih.gov/pubmed/18436427", "http://www.ncbi.nlm.nih.gov/pubmed/16324899", "http://www.ncbi.nlm.nih.gov/pubmed/11552771", "http://www.ncbi.nlm.nih.gov/pubmed/23103549", "http://www.ncbi.nlm.nih.gov/pubmed/23706842", "http://www.ncbi.nlm.nih.gov/pubmed/12798257", "http://www.ncbi.nlm.nih.gov/pubmed/19506776", "http://www.ncbi.nlm.nih.gov/pubmed/25007537", "http://www.ncbi.nlm.nih.gov/pubmed/25709077", "http://www.ncbi.nlm.nih.gov/pubmed/18396192", "http://www.ncbi.nlm.nih.gov/pubmed/24216181", "http://www.ncbi.nlm.nih.gov/pubmed/15076016", "http://www.ncbi.nlm.nih.gov/pubmed/11555345", "http://www.ncbi.nlm.nih.gov/pubmed/10954063", "http://www.ncbi.nlm.nih.gov/pubmed/22475888", "http://www.ncbi.nlm.nih.gov/pubmed/16317314", "http://www.ncbi.nlm.nih.gov/pubmed/19016483", "http://www.ncbi.nlm.nih.gov/pubmed/15915097", "http://www.ncbi.nlm.nih.gov/pubmed/27111262" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:4", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013568", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012816" ]

[ "Kinetochores assemble on a specialized chromosomal locus termed the centromere, which is characterized by the replacement of histone H3 in centromeric nucleosomes with the essential histone H3 variant CENP-A (centromere protein A). The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome. Further, we demonstrate Mis18α's crucial role for epigenetic regulation of centromeric chromatin by reinforcing centromeric localization of DNMT3A/3B. Mis18α interacts with DNMT3A/3B, and this interaction is critical for maintaining DNA methylation and hence regulating epigenetic states of centromeric chromatin. Together, our findings uncover the functional mechanism of Mis18α and its pivotal role in mammalian cell cycle. The Mis18 complex is a critical player in determining when and where centromeres are built.", "Mis16 and Mis18 are required for CENP-A loading and histone deacetylation at centromeres Here we report identification of five fission yeast centromere proteins, Mis14-18. Mis14 is recruited to kinetochores independently of CENP-A, and, conversely, CENP-A does not require Mis14 to associate with centromeres. In contrast, Mis15, Mis16 (strong similarity with human RbAp48 and RbAp46), Mis17, and Mis18 are all part of the CENP-A recruitment pathway. Mis16 and Mis18 form a complex and maintain the deacetylated state of histones specifically in the central core of centromeres. Mis16 and Mis18 are the most upstream factors in kinetochore assembly as they can associate with kinetochores in all kinetochore mutants except for mis18 and mis16, respectively.", "The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome.", "Mis16 and Mis18 form a complex and maintain the deacetylated state of histones specifically in the central core of centromeres. A fundamental process in centromere establishment is the incorporation of the histone variant CENP-A into centromeric chromatin, which provides a binding platform for the other centromeric proteins. CENP-A nucleosome assembly requires the Mis18 complex and the CENP-A chaperone HJURP. Thus, CENP-C provides a link between existing CENP-A chromatin and the proteins required for new CENP-A nucleosome assembly. The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome. This is a critical step that is essential for proper centromere function and maintaining the integrity of the genome.", "The Mis18 complex is a critical player in determining when and where centromeres are built. The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome. Eukaryotic chromosomes segregate by attaching to microtubules of the mitotic spindle through a chromosomal microtubule binding site called the kinetochore. Centromeres are important structural constituents of chromosomes that ensure proper chromosome segregation during mitosis by providing defined sites for kinetochore attachment. Centromeres contain specialized chromatin that includes the centromere-specific histone H3 variant, spCENP-A/Cnp1.", "Together, our findings uncover the functional mechanism of Mis18α and its pivotal role in mammalian cell cycle. The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome.", "the mis18 complex has been identified as a critical factor for the centromeric localization of a histone h3 variant, centromeric protein a (cenp-a), which is responsible for the specification of centromere identity in the chromosome." ]

[]

[ "Mis16 and Mis18 are required for CENP-A loading and histone deacetylation at centromeres", "Here we report identification of five fission yeast centromere proteins, Mis14-18. Mis14 is recruited to kinetochores independently of CENP-A, and, conversely, CENP-A does not require Mis14 to associate with centromeres.", "In contrast, Mis15, Mis16 (strong similarity with human RbAp48 and RbAp46), Mis17, and Mis18 are all part of the CENP-A recruitment pathway.", "Mis16 and Mis18 form a complex and maintain the deacetylated state of histones specifically in the central core of centromeres. Mis16 and Mis18 are the most upstream factors in kinetochore assembly as they can associate with kinetochores in all kinetochore mutants except for mis18 and mis16, respectively. ", "The Mis18 complex, and, in particular, its member M18BP1 was shown to be essential for both incorporation and maintenance of CENP-A.", " CENP-A nucleosome assembly requires the Mis18 complex and the CENP-A chaperone HJURP.", "Roles of Mis18α in epigenetic regulation of centromeric chromatin and CENP-A loading", "The Mis18 complex has been identified as a critical factor for the centromeric localization of a histone H3 variant, centromeric protein A (CENP-A), which is responsible for the specification of centromere identity in the chromosome.", "Here, we generated Mis18α conditional knockout mice and found that Mis18α deficiency resulted in lethality at early embryonic stage with severe defects in chromosome segregation caused by mislocalization of CENP-A.", "Further, we demonstrate Mis18α's crucial role for epigenetic regulation of centromeric chromatin by reinforcing centromeric localization of DNMT3A/3B", "Mis18α interacts with DNMT3A/3B, and this interaction is critical for maintaining DNA methylation and hence regulating epigenetic states of centromeric chromatin", "Mis18α deficiency led to reduced DNA methylation, altered histone modifications, and uncontrolled noncoding transcripts in centromere region by decreased DNMT3A/3B enrichment", "Together, our findings uncover the functional mechanism of Mis18α and its pivotal role in mammalian cell cycle.", "Centromere licensing: Mis18 is required to Polo-ver", "The Mis18 complex is a critical player in determining when and where centromeres are built", "Its nearest relatives are yippee, a highly conserved eukaryotic protein of unknown function, and Mis18, a protein involved in the priming of centromeres for recruitment of CENP-A.", "Mis16 and Mis18 are subunits of a protein complex required for incorporation of the histone H3 variant CenH3 (Cnp1/CENP-A) into centromeric chromatin in Schizosaccharomyces pombe and mammals.", "The Mis18 proteins (Mis18α, Mis18β, and M18BP1) are pivotal to the deposition of CENP-A at the centromere during cell cycle progression and are indispensable for embryonic development.", "Although Mis18α and Mis18β are highly homologous proteins, we find that their conserved YIPPEE domains mediate distinct interactions that are essential to link new CENP-A deposition to existing centromeres.", "Its nearest relatives are yippee, a highly conserved eukaryotic protein of unknown function, and Mis18, a protein involved in the priming of centromeres for recruitment of CENP-A.", "Ectopically targeted CENP-A chromatin at the LacO array was sufficient to direct the assembly of a functional centromere as indicated by the recruitment of the constitutive centromere-associated network proteins, the microtubule-binding protein NDC80, and the formation of stable kinetochore-microtubule attachments.", "Replication-independent incorporation of CENP-A at centromeres depends on its chaperone HJURP(Scm3), and Mis18 in vertebrates and fission yeast.", "Our findings suggest that Eic1 serves a function analogous to that of Mis18BP1(KNL2), thus representing the functional counterpart of Mis18BP1(KNL2) in fission yeast that connects with a module within the CCAN/Mis6/Ctf19 complex to allow the temporally regulated recruitment of the Mis18/Scm3(HJURP) Cnp1(CENP-A) loading factors.", "Here, we show that Mis18â, a component of Mis18 complex governing CENP-A localization, is a new substrate of âTrCP-containing SCF complex.", "Schizosaccharomyces pombe centromere protein Mis19 links Mis16 and Mis18 to recruit CENP-A through interacting with NMD factors and the SWI/SNF complex.", "The fission yeast Schizosaccharomyces pombe and mammalian Mis16 and Mis18 form a complex essential for CENP-A recruitment to centromeres.", "Its nearest relatives are yippee, a highly conserved eukaryotic protein of unknown function, and Mis18, a protein involved in the priming of centromeres for recruitment of CENP-A. Searches for distant homologs point to an evolutionary relationship of CULT, yippee, and Mis18 to proteins sharing a common fold, which consists of two four-stranded β-meanders packing at a roughly right angle and coordinating a zinc ion at their apex", "Schizosaccharomyces pombe centromere protein Mis19 links Mis16 and Mis18 to recruit CENP-A through interacting with NMD factors and the SWI/SNF complex", "In contrast, Mis15, Mis16 (strong similarity with human RbAp48 and RbAp46), Mis17, and Mis18 are all part of the CENP-A recruitment pathway", "Eic1 links Mis18 with the CCAN/Mis6/Ctf19 complex to promote CENP-A assembly.", "Mis16 and Mis18 are required for CENP-A loading and histone deacetylation at centromeres.", "No Mis18BP1(KNL2) orthologue has been identified in fission yeast, consequently it remains unknown how the key Cnp1(CENP-A) loading factor Mis18 is recruited. ", "In contrast, Mis15, Mis16 (strong similarity with human RbAp48 and RbAp46), Mis17, and Mis18 are all part of the CENP-A recruitment pathway. ", "In fission yeast, Scm3sp and the Mis18 complex, composed of Mis16, Eic1, and Mis18, function as a CENP-A(Cnp1)-specific chaperone and a recruiting factor, respectively, and together ensure accurate delivery of CENP-A(Cnp1) to centromeres.", "Its nearest relatives are yippee, a highly conserved eukaryotic protein of unknown function, and Mis18, a protein involved in the priming of centromeres for recruitment of CENP-A. Searches for distant homologs point to an evolutionary relationship of CULT, yippee, and Mis18 to proteins sharing a common fold, which consists of two four-stranded β-meanders packing at a roughly right angle and coordinating a zinc ion at their apex.", "No Mis18BP1(KNL2) orthologue has been identified in fission yeast, consequently it remains unknown how the key Cnp1(CENP-A) loading factor Mis18 is recruited.", "CENP-A nucleosome assembly requires the Mis18 complex and the CENP-A chaperone HJURP.", "We find that Mis18α directly interacts with the N terminus of Mis18BP1, whereas Mis18β directly interacts with CENP-C during G1 phase, revealing that these proteins have evolved to serve distinct functions in centromeres of higher eukaryotes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25569776", "http://www.ncbi.nlm.nih.gov/pubmed/24774534", "http://www.ncbi.nlm.nih.gov/pubmed/22540025", "http://www.ncbi.nlm.nih.gov/pubmed/24789708", "http://www.ncbi.nlm.nih.gov/pubmed/27239045", "http://www.ncbi.nlm.nih.gov/pubmed/15369671", "http://www.ncbi.nlm.nih.gov/pubmed/22516971", "http://www.ncbi.nlm.nih.gov/pubmed/21911481", "http://www.ncbi.nlm.nih.gov/pubmed/26343758", "http://www.ncbi.nlm.nih.gov/pubmed/27670610", "http://www.ncbi.nlm.nih.gov/pubmed/19217403", "http://www.ncbi.nlm.nih.gov/pubmed/24269809", "http://www.ncbi.nlm.nih.gov/pubmed/25202874", "http://www.ncbi.nlm.nih.gov/pubmed/21768289" ]

[]

[]

[ "Nucleosomes along viral cccDNA in the minichromosomes are not random but sequence-specifically positioned.", "In vitro assembled minichromosomes were able to replicate efficiently in vitro, when the DNA was preincubated with T-antigen, a cytosolic S100 extract and three deoxynucleoside triphosphates prior to chromatin assembly, indicating that the origin has to be free of nucleosomes for replication initiation. The transcriptionally inactive locus is covered by an array of positioned nucleosomes extending over 1,400 bp. In minichromosomes with a (mu)LCR or DNase I-hypersensitive site 2 (HS2) which actively transcribe the epsilon-globin gene, the nucleosome at the promoter is altered or disrupted while positioning of nucleosomes in the rest of the locus is retained. Viral minichromosomes were found to exist in at least two defined structures covered with 11 or 12 nucleosomes, leaving open gaps accessible for interactions with other host factors. Minichromosomes from both preparations contain the full complement of nucleosomes, but salt treatment removes histone H1 and a fraction of nonhistone chromatin proteins. This double-stranded DNA serves as a template for replication as well as transcription and is assembled into host nucleosomes, yielding circular viral minichromosomes. In contrast, the replicated untreated minichromosomes were found to be densely packed with nucleosomes, indicating that an assembly of new nucleosomes occurred during in vitro replication.", "Several nucleosome-protected sites in a region of the DHBV genome [nucleotides (nt) 2000 to 2700], known to harbor various cis transcription regulatory elements, were consistently identified in all DHBV-positive liver samples. In addition, we observed other nucleosome protection sites in DHBV minichromosomes that may vary among individual ducks, but the pattern of MNase mapping in those regions is transmittable from the adult ducks to the newly infected ducklings.", "nucleosomes along viral cccDNA in the minichromosomes are not random but sequence-specifically positioned. In addition, we observed other nucleosome protection sites in DHBV minichromosomes that may vary among individual ducks, but the pattern of MNase mapping in those regions is transmittable from the adult ducks to the newly infected ducklings." ]

[ "no" ]

[ "Several nucleosome-protected sites in a region of the DHBV genome [nucleotides (nt) 2000 to 2700], known to harbor various cis transcription regulatory elements, were consistently identified in all DHBV-positive liver samples.", "In addition, we observed other nucleosome protection sites in DHBV minichromosomes that may vary among individual ducks, but the pattern of MNase mapping in those regions is transmittable from the adult ducks to the newly infected ducklings.", "nucleosomes along viral cccDNA in the minichromosomes are not random but sequence-specifically positioned.", "Investigators studying the structure and function of hepadnaviral CCC DNA (3) have provided evidence that suggests that this structure exists in the nucleus of infected hepatocytes as a heterogeneous population of viral minichromosomes, which range from half to fully chromatinized, thought to be owing to their association with variable numbers of nucleosomes.", "Characterization of nucleosome positioning in hepadnaviral covalently closed circular DNA minichromosomes.", "To obtain insight on the structure of hepadnaviral cccDNA minichromosomes, we utilized ducks infected with the duck hepatitis B virus (DHBV) as a model and determined the in vivo nucleosome distribution pattern on viral cccDNA by the micrococcal nuclease (MNase) mapping and genome-wide PCR amplification of isolated mononucleosomal DHBV DNA.", "Mature SV40 minichromosomes are estimated to contain about 27 nucleosomes (error +/- 2), except for those molecules with a nucleosome-free gap, which are interpreted to contain 25 nucleosomes (error +/- 2).", "In vitro replication in the presence of protein-free competitor DNA shows that replicating trypsinized minichromosomes do not lose nucleosomes and replicating competitor DNA does not gain nucleosomes.", "In vitro replication in the presence of protein-free competitor DNA shows that replicating trypsinized minichromosomes do not lose nucleosomes and replicating competitor DNA does not gain nucleosomes.", "We conclude that in both cases parental nucleosomes are transferred to progeny DNA, and, in addition, that an assembly of new nucleosomes occurs during the replication of native minichromosomes.", "In contrast, the replicated untreated minichromosomes were found to be densely packed with nucleosomes, indicating that an assembly of new nucleosomes occurred during in vitro replication.", "Investigators studying the structure and function of hepadnaviral CCC DNA (3) have provided evidence that suggests that this structure exists in the nucleus of infected hepatocytes as a heterogeneous population of viral minichromosomes, which range from half to fully chromatinized, thought to be owing to their association with variable numbers of nucleosomes", "To obtain insight on the structure of hepadnaviral cccDNA minichromosomes, we utilized ducks infected with the duck hepatitis B virus (DHBV) as a model and determined the in vivo nucleosome distribution pattern on viral cccDNA by the micrococcal nuclease (MNase) mapping and genome-wide PCR amplification of isolated mononucleosomal DHBV DNA", "Characterization of nucleosome positioning in hepadnaviral covalently closed circular DNA minichromosomes.", "To obtain insight on the structure of hepadnaviral cccDNA minichromosomes, we utilized ducks infected with the duck hepatitis B virus (DHBV) as a model and determined the in vivo nucleosome distribution pattern on viral cccDNA by the micrococcal nuclease (MNase) mapping and genome-wide PCR amplification of isolated mononucleosomal DHBV DNA.", "Investigators studying the structure and function of hepadnaviral CCC DNA (3) have provided evidence that suggests that this structure exists in the nucleus of infected hepatocytes as a heterogeneous population of viral minichromosomes, which range from half to fully chromatinized, thought to be owing to their association with variable numbers of nucleosomes.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/3023620", "http://www.ncbi.nlm.nih.gov/pubmed/8649399", "http://www.ncbi.nlm.nih.gov/pubmed/1337883", "http://www.ncbi.nlm.nih.gov/pubmed/22787202", "http://www.ncbi.nlm.nih.gov/pubmed/8380890", "http://www.ncbi.nlm.nih.gov/pubmed/21331901" ]

[]

[]

[ "Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5", "Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. ", "syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5 . ", "cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5.", "Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5." ]

[ "no" ]

[ "Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5", "The typical cri du chat syndrome, due to 5p15.2 deletion, includes severe intellectual disability, facial dysmorphisms, neonatal hypotonia and pre- and post-natal growth retardation, whereas more distal deletions in 5p15.3 lead to cat-like cry and speech delay and produce the clinical picture of the atypical cri du chat syndrome, with minimal or absent intellectual impairment.", "Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p.", "Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5.", "The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome.", "Fewer than 1 in 200 of cri du chat syndrome cases are due to recombination aneusomy arising from a parental inversion of chromosome 5.", "Molecular approach to analyzing the human 5p deletion syndrome, cri du chat.", "Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p", "The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5", "The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p).", "Cri-du-chat syndrome is associated with a deletion of the short arm of chromosome 5.", "The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome.", "The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-).", "Cri-du-chat is a well described partial aneusomy resulting from deletion of the short arm of chromosome 5.", "Cri-du-chat syndrome is caused by haploinsufficiency of the genes on the distal part of the short arm of chromosome 5, and characteristic features include microcephaly, developmental delays, and a distinctive high-pitched mewing cry.", "The pathological condition of cri du chat syndrome is due to the cytogenetic deletion of band p15.2 of chromosome 5. ", " Karyotype analysis indicated that the patient has carried a terminal deletion in 5p. FISH with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are deleted. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/7896290", "http://www.ncbi.nlm.nih.gov/pubmed/11810654", "http://www.ncbi.nlm.nih.gov/pubmed/24556499", "http://www.ncbi.nlm.nih.gov/pubmed/2988137", "http://www.ncbi.nlm.nih.gov/pubmed/9464278", "http://www.ncbi.nlm.nih.gov/pubmed/995018", "http://www.ncbi.nlm.nih.gov/pubmed/9718678", "http://www.ncbi.nlm.nih.gov/pubmed/7713510", "http://www.ncbi.nlm.nih.gov/pubmed/7757083", "http://www.ncbi.nlm.nih.gov/pubmed/21045963", "http://www.ncbi.nlm.nih.gov/pubmed/1606717", "http://www.ncbi.nlm.nih.gov/pubmed/23455788", "http://www.ncbi.nlm.nih.gov/pubmed/9284926", "http://www.ncbi.nlm.nih.gov/pubmed/27144168", "http://www.ncbi.nlm.nih.gov/pubmed/7762563", "http://www.ncbi.nlm.nih.gov/pubmed/16953888" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:12580", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003410" ]

[ "Smyd3 is required for the development of cardiac and skeletal muscle in zebrafish. Transcripts of smyd3 are expressed in zebrafish embryos at all developmental stages and knockdown of smyd3 in embryos resulted in pericardial edema and defects in the trunk structure. In addition, these phenotypes are associated with abnormal expression of three heart-chamber markers including cmlc2, amhc and vmhc, and abnormal expression of myogenic regulatory factors including myod and myog." ]

[ "The development of cardiac muscle", "The development of skeletal muscle" ]

[ "Smyd3 is required for the development of cardiac and skeletal muscle in zebrafish", "We here show that transcripts of smyd3 were expressed in zebrafish embryos at all developmental stages examined and that knockdown of smyd3 in embryos resulted in pericardial edema and defects in the trunk structure. In addition, these phenotypes were associated with abnormal expression of three heart-chamber markers including cmlc2, amhc and vmhc, and abnormal expression of myogenic regulatory factors including myod and myog. These data suggest that Smyd3 plays an important role in the development of heart and skeletal muscle.", "We here show that transcripts of smyd3 were expressed in zebrafish embryos at all developmental stages examined and that knockdown of smyd3 in embryos resulted in pericardial edema and defects in the trunk structure.", "We find both smyd3 and setd7 are highly expressed within developing zebrafish heart and knock-down of these genes led to severe defects in cardiac morphogenesis without altering the expressions pattern of heart markers, including cmlc2, vmhc, and amhc.", "Smyd3 is required for the development of cardiac and skeletal muscle in zebrafish.", "SMYD1, SMYD2, SMYD3, and SMYD4 have been found to play critical roles in carcinogenesis and/or the development of heart and skeletal muscle.", "SMYD1, SMYD2, SMYD3, and SMYD4 have been found to play critical roles in carcinogenesis and/or the development of heart and skeletal muscle.", "Smyd3 is required for the development of cardiac and skeletal muscle in zebrafish.", "These data suggest that Smyd3 plays an important role in the development of heart and skeletal muscle.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27377701", "http://www.ncbi.nlm.nih.gov/pubmed/21887258", "http://www.ncbi.nlm.nih.gov/pubmed/25997738" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0043457", "o": "Danio rerio" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0043457", "o": "http://linkedlifedata.com/resource/umls/label/A7574572" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A7574572", "o": "Zebrafish" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0043457", "o": "http://linkedlifedata.com/resource/umls/label/A0134867" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0134867", "o": "Zebrafish" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0043457", "o": "http://linkedlifedata.com/resource/umls/label/A18687609" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18687609", "o": "zebrafish" } ]

[ "http://www.uniprot.org/uniprot/SMYD3_HUMAN", "http://www.uniprot.org/uniprot/SMYD3_MOUSE", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018482", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D029961", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011495", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015027" ]

[ "Ribociclib is inhibitor of cyclin D-cyclin-dependent kinase 4/6 (CDK 4/6). It is used for breast cancer treatment." ]

[ "cyclin D-cyclin-dependent kinase 4/6", "CDK4/6" ]

[ "Three CDK 4/6 inhibitors have been investigated for the treatment of HR(+) breast cancer, including palbociclib (PD 0332991), ribociclib (LEE011), and abemaciclib (LY2835219). ", "The CDK 4/6 inhibitors are a novel class of therapeutics that target the CDK 4/6 kinases that promote transition through the cell cycle. Currently, palbociclib (PD0332991, Pfizer), abemaciclib (LY2835219, Lilly) and ribociclib (LEE011, Novartis) are being investigated in clinical trials. ", "SUMMARY: Palbociclib, abemaciclib and ribociclib have demonstrated very promising clinical activity in breast cancer, liposarcoma, mantel cell lymphoma and melanoma. Moreover, CDK4/6 inhibitors have shown promising preclinical activity in glioblastoma, renal and ovarian cancer models that may provide directions for their future clinical development.", "Currently, three selective CDK4/6 inhibitors have been approved or are in late-stage development: palbociclib (PD-0332991), ribociclib (LEE011), and abemaciclib (LY2835219).", "The combination of antiestrogen therapy and ribociclib, an investigational CDK4/6 inhibitor, led to improved outcomes in women with metastatic HR-positive, HER2-negative breast cancer, according to findings presented at a meeting of the European Society for Medical Oncology. ", "OBJECTIVES: Cyclin D-cyclin-dependent kinase (CDK) 4/6-inhibitor of CDK4/6-retinoblastoma (Rb) pathway hyperactivation is associated with hormone receptor-positive (HR+) breast cancer (BC). This study assessed the biological activity of ribociclib (LEE011; CDK4/6 inhibitor) plus letrozole compared with single-agent letrozole in the presurgical setting", "Importantly, 2 other CDK4/6 inhibitors, abemaciclib (LY2835219; Lilly) and ribociclib (LEE011; Novartis), are in the late stage of clinical development. ", "After noting an inverse correlation with sensitivity to ribociclib (CDK4/6 inhibitor), we studied the combinatorial effect of these two agents using proliferation assays, cell cycle analysis, Ki67 immunostaining, timelapse microscopy and xenograft studies.", "Methods In this randomized, placebo-controlled, phase 3 trial, we evaluated the efficacy and safety of the selective CDK4/6 inhibitor ribociclib combined with letrozole for first-line treatment in 668 postmenopausal women with HR-positive, HER2-negative recurrent or metastatic breast cancer who had not received previous systemic therapy for advanced disease. ", "Three selective CDK4/6 inhibitors, palbociclib (Ibrance; Pfizer), ribociclib (Novartis), and abemaciclib (Lilly), are in various stages of development in a variety of pRb-positive tumor types, including breast cancer, melanoma, liposarcoma, and non-small cell lung cancer. ", "Clinical Development of the CDK4/6 Inhibitors Ribociclib and Abemaciclib in Breast Cancer.", "Targeted inhibition of CDK4/6 pathway by small-molecule inhibitors palbociclib (PD-0332991) and ribociclib (LEE011) resulted in inhibition of cell-cycle progression, amelioration of kidney injury, and improved overall survival. ", "Clinical Development of the CDK4/6 Inhibitors Ribociclib and Abemaciclib in Breast Cancer." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26303211", "http://www.ncbi.nlm.nih.gov/pubmed/27729458", "http://www.ncbi.nlm.nih.gov/pubmed/27017286", "http://www.ncbi.nlm.nih.gov/pubmed/25941111", "http://www.ncbi.nlm.nih.gov/pubmed/26642065", "http://www.ncbi.nlm.nih.gov/pubmed/27030077", "http://www.ncbi.nlm.nih.gov/pubmed/27493615", "http://www.ncbi.nlm.nih.gov/pubmed/27496135", "http://www.ncbi.nlm.nih.gov/pubmed/26830312", "http://www.ncbi.nlm.nih.gov/pubmed/27717303", "http://www.ncbi.nlm.nih.gov/pubmed/25848011", "http://www.ncbi.nlm.nih.gov/pubmed/26053278", "http://www.ncbi.nlm.nih.gov/pubmed/27810861", "http://www.ncbi.nlm.nih.gov/pubmed/27542767", "http://www.ncbi.nlm.nih.gov/pubmed/27087139", "http://www.ncbi.nlm.nih.gov/pubmed/26995305", "http://www.ncbi.nlm.nih.gov/pubmed/27336726", "http://www.ncbi.nlm.nih.gov/pubmed/26390342", "http://www.ncbi.nlm.nih.gov/pubmed/25876993", "http://www.ncbi.nlm.nih.gov/pubmed/26896604" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004798" ]

[ "About 80% of Diffuse intrinsic pontine glioma (DIPG) cases and 70% of midline glioblastomas contain a mutation at one allele of the H3F3A gene (encoding histone H3 variant H3.3), replacing the lysine 27 with methionine (K27M). Moreover, approximately 30% of pediatric high grade gliomas (pedHGG) including GBM and DIPG harbor a lysine 27 mutation (K27M) in histone 3.3 (H3.3) which is correlated with poor outcome. Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1)", "Moreover, approximately 30% of pediatric high grade gliomas (pedHGG) including GBM and DIPG harbor a lysine 27 mutation (K27M) in histone 3.3 (H3.3) which is correlated with poor outcome and was shown to influence EZH2 function Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1) Recent studies have identified a Lys 27-to-methionine (K27M) mutation at one allele of H3F3A, one of the two genes encoding histone H3 variant H3.3, in 60% of high-grade pediatric glioma cases.", "Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). Two new studies show that the known histone H3 alteration p.Lys27Met in pediatric glioma leads to globally diminished trimethylation at histone H3 lysine 27. These results indicate that H3.3K27M mutation reprograms epigenetic landscape and gene expression, which may drive tumorigenesis.", ", approximately 30% of pediatric high grade gliomas (pedhgg) including gbm and dipg harbor a lysine 27 mutation (k27m) in histone 3.3 (h3.3) which is correlated with poor outcome and was shown to influence ezh2 function . the h3f3a mutant allele found in high-grade pediatric glioma by real-time pcr . studies on high-grade pediatric gbm have identified two recurrent mutations (k27m and g34r/v) in genes encoding histone h3 (h3f3a for h3.3 and hist1h3b for h3.1) . has been reported recently that about 80% of dipg cases and 70% of midline glioblastomas contain a mutation at one allele of the h3f3a gene (encoding histone h3 variant h3.3) , replacing the lysine 27 with methionine (k27m). . , discuss vaccine treatment for children diagnosed with malignant glioma , through targeting epha2 , il-13rα2 and/or histone h3 k27m , while in adults , treatments with rintega , prophage series g-100 and dendritic cells are explored. . studies have identified a lys 27-to-methionine (k27m) mutation at one allele of h3f3a , one of the two genes encoding histone h3 variant h3.3 , in 60% of high-grade pediatric glioma cases. . new studies show that the known histone h3 alteration p.lys27met in pediatric glioma leads to globally diminished trimethylation at histone h3 lysine 27 . were able to discern the h3f3a k27m mutation in a newly obtained pediatric brainstem glioblastoma sample whose h3.3 status was not known previously , and in three other dipg samples as well as paraffin embedded samples these results demonstrate that have developed a new reliable procedure for detecting the h3f3a k27m mutation in pediatric glioblastoma patient samples. . " ]

[ "K27M in H3F3A", "G34R/V in HIST1H3B" ]

[ "Detecting the H3F3A mutant allele found in high-grade pediatric glioma by real-time PCR", " It has been reported recently that about 80% of DIPG cases and 70% of midline glioblastomas contain a mutation at one allele of the H3F3A gene (encoding histone H3 variant H3.3), replacing the lysine 27 with methionine (K27M).", "In order to facilitate diagnosis of DIPG patients, a quick and reliable method to identify the H3F3A K27M mutation is needed.", "Using this optimized real-time PCR assay, we analyzed eleven samples, two of which containing H3F3A K27M mutation, and found that these two samples were differentially amplified from the nine others. ", "we were able to discern the H3F3A K27M mutation in a newly obtained pediatric brainstem glioblastoma sample whose H3.3 status was not known previously, and in three other DIPG samples as well as paraffin embedded samples. These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples.", "Moreover, approximately 30% of pediatric high grade gliomas (pedHGG) including GBM and DIPG harbor a lysine 27 mutation (K27M) in histone 3.3 (H3.3) which is correlated with poor outcome and was shown to influence EZH2 function", "A lesson learned from the H3.3K27M mutation found in pediatric glioma: a new approach to the study of the function of histone modifications in vivo?", "Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1)", "Genome-wide studies using ChIP-seq on H3.3K27M patient samples indicate a global reduction of H3K27me3 on chromatin.", "Remarkably, we also found a dramatic enrichment of H3K27me3 and EZH2 (the catalytic subunit H3K27 methyltransferase) at hundreds of gene loci in H3.3K27M patient cells", "Two new studies show that the known histone H3 alteration p.Lys27Met in pediatric glioma leads to globally diminished trimethylation at histone H3 lysine 27. ", "The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression.", "Recent studies have identified a Lys 27-to-methionine (K27M) mutation at one allele of H3F3A, one of the two genes encoding histone H3 variant H3.3, in 60% of high-grade pediatric glioma cases.", "These results indicate that H3.3K27M mutation reprograms epigenetic landscape and gene expression, which may drive tumorigenesis.", "Here, we discuss vaccine treatment for children diagnosed with malignant glioma, through targeting EphA2, IL-13Rα2 and/or histone H3 K27M, while in adults, treatments with RINTEGA, Prophage Series G-100 and dendritic cells are explored.", "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).", "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.", "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.", "Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation.", "Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors.", "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", "Recent sequencing studies have shown that ~30 % of pediatric GBM and ~80 % of diffuse intrinsic pontine gliomas show K27M mutations in the H3F3A gene, a variant encoding histone H3.3", "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)", "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", "Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors", "Pediatric brainstem gliomas often harbor oncogenic K27M mutation of histone H3.3", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas", "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. ", "Recent studies have identified a Lys 27-to-methionine (K27M) mutation at one allele of H3F3A, one of the two genes encoding histone H3 variant H3.3, in 60% of high-grade pediatric glioma cases. ", "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. ", "Recent sequencing studies have shown that ~30 % of pediatric GBM and ~80 % of diffuse intrinsic pontine gliomas show K27M mutations in the H3F3A gene, a variant encoding histone H3.3.", "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.", "Moreover, approximately 30% of pediatric high grade gliomas (pedHGG) including GBM and DIPG harbor a lysine 27 mutation (K27M) in histone 3.3 (H3.3) which is correlated with poor outcome and was shown to influence EZH2 function.The present study investigated the correlation of expression of EZH2 and other PRC2 genes (EZH1, SUZ12, EED) with overall survival of pediatric GBM patients and the cytotoxic impact of EZH2 inhibition by the novel agent Tazemetostat in pediatric GBM/DIPG cells harboring either a H3.3 mutation or a H3 wildtype.EZH2 gene expression does not c", "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.", "Important insights have also been uncovered in the field of pediatric glioma, including the identification of recurrent mutation, fusion, and/or duplication events of the BRAF, FGFR1, MYB, and MYBL1 genes in pediatric low-grade gliomas, mutations affecting histone components (H3F3A p.K27M or p.G34) in pediatric high-grade gliomas, and aggressive subsets developing in midline central nervous system structures.", "K27M-H3.3 is universally associated with short survival in DIPG, while patients wild-type for H3.3 show improved survival.", "Taken together, our results suggest that mutations disrupting the histone code at H3K36, including H3.3 G34R/V, IDH1 and/or SETD2 mutations, are central to the genesis of hemispheric HGGs in older children and young adults.", "Gliomas with H3F3A K27M from pediatric or young adult patients had similar, characteristic DNA methylation profiles.", "K27M-H3.3 is universally associated with short survival in DIPG, while patients wild-type for H3.3 show improved survival.", "Moreover, the gain of H3K27me3 and Ezh2 at gene promoters alters the expression of genes that are associated with various cancer pathways.", "Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation.", "The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression.", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.", "A lesson learned from the H3.3K27M mutation found in pediatric glioma: a new approach to the study of the function of histone modifications in vivo?" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27135271", "http://www.ncbi.nlm.nih.gov/pubmed/27444975", "http://www.ncbi.nlm.nih.gov/pubmed/23429371", "http://www.ncbi.nlm.nih.gov/pubmed/27048880", "http://www.ncbi.nlm.nih.gov/pubmed/27622066", "http://www.ncbi.nlm.nih.gov/pubmed/23715325", "http://www.ncbi.nlm.nih.gov/pubmed/23907119", "http://www.ncbi.nlm.nih.gov/pubmed/23603901", "http://www.ncbi.nlm.nih.gov/pubmed/22661320", "http://www.ncbi.nlm.nih.gov/pubmed/26376656", "http://www.ncbi.nlm.nih.gov/pubmed/25200322", "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/23417712", "http://www.ncbi.nlm.nih.gov/pubmed/25401693" ]

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[ "The emergence and development of so called third generation sequencing platforms such as PacBio has permitted exceptionally long reads (over 20 kb) to be generated but not yet read length >30 Kb." ]

[ "no" ]

[ "Single-molecule, real-time sequencing (SMRT) developed by Pacific BioSciences produces longer reads than secondary generation sequencing technologies such as Illumina. The long read length enables PacBio sequencing to close gaps in genome assembly, reveal structural variations, and identify gene isoforms with higher accuracy in transcriptomic sequencing.", " Third-generation sequencing, with read lengths>10 kb, will improve the assembly of complex genomes, but these techniques require high-molecular-weight genomic DNA (gDNA), and gDNA extraction protocols used for obtaining smaller fragments for short-read sequencing are not suitable for this purpose.", "The emergence and development of so called third generation sequencing platforms such as PacBio has permitted exceptionally long reads (over 20 kb) to be generated." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25977818", "http://www.ncbi.nlm.nih.gov/pubmed/27712583", "http://www.ncbi.nlm.nih.gov/pubmed/27587671" ]

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[ "No, Osteocrin (Ostn) has been detected in the bones and the brain." ]

[ "no" ]

[ "Evolution of Osteocrin as an activity-regulated factor in the primate brain.", "Here we use transcriptional profiling of human fetal brain cultures to identify an activity-dependent secreted factor, Osteocrin (OSTN), that is induced by membrane depolarization of human but not mouse neurons.", "Osteocrin (Ostn) is a recently discovered secreted protein produced by cells of the osteoblast lineage that shows a well conserved homology with members of the natriuretic peptide (NP) family. ", "Osteocrin (Ostn), a bone-active molecule, has been shown in animals to be highly expressed in cells of the osteoblast lineage. ", "Osteocrin, a novel bone-specific secreted protein that modulates the osteoblast phenotype." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15923362", "http://www.ncbi.nlm.nih.gov/pubmed/14523025", "http://www.ncbi.nlm.nih.gov/pubmed/27830782", "http://www.ncbi.nlm.nih.gov/pubmed/17951249" ]

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[ "Achondrogenesis type II also known as Achondroplasia is an autosomal-dominant disease leading to severe micromelic dwarfism", "Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. ", "Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism.", "achondrogenesis type ii is an autosomal-dominant disease leading to severe micromelic dwarfism.", "achondrogenesis type ii is an autosomal-dominant disease to severe micromelic dwarfism. . " ]

[ "An autosomal dominant form of dwarfism" ]

[ "Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism.", "Physical basis behind achondroplasia, the most common form of human dwarfism", "Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/20624921", "http://www.ncbi.nlm.nih.gov/pubmed/24365319", "http://www.ncbi.nlm.nih.gov/pubmed/25823796" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:4480", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000130" ]

[ "Mirabegron, the first 尾3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms.", "mirabegron, the first β3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (oab) syndrome symptoms.", "Mirabegron, the first β3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms.", "Mirabegron, the first �3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms.", "Mirabegron, the first 3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms. " ]

[ "OverActive Bladder syndrome" ]

[ "Mirabegron, the first β3-adrenoceptor agonist in clinical practice, is approved for treatment of overactive bladder (OAB) syndrome symptoms.", "The clinical indication for mirabegron is overactive bladder with symptoms of urge urinary incontinence, urgency, and urinary frequency and other storage symptoms in both men and women.", "Mirabegron has been approved in Japan for the indication of urgency, urinary frequency and urge urinary incontinence associated with OAB, and was recently submitted for approval to U.S. and European authorities for the same indication.", "Mirabegron was well tolerated.The early onset of action and good overall efficacy and tolerability balance that mirabegron offers may lead to high rates of persistence with mirabegron in the long-term treatment of OAB", "Mirabegron, the selective β3-adrenoceptor agonist, heralds the latest development for the treatment of overactive bladder (OAB).To present the evidence available on the efficacy and tolerability of mirabegron and to discuss this treatments potential in our setting.We reviewed 11 studies conducted with mirabegron in patients with OAB (2 phase II, 9 phase III), all studies were compared to placebo with 6 studies also including tolterodine as an additional arm", "More than 50% of patients had previously discontinued anticholinergics medication for OAB, thus allowing us to obtain data on the effectiveness of mirabegron in patients already treated with anticholinergics.Mirabegron is an efficacious drug which presents a statistically significant reduction in the number of incontinence episodes and in urinary frequency as of 4 weeks, with a higher percentage of dry patients and a higher percentage of patients with reduction ≥50% in the number of incontinence episodes than placebo", "Mirabegron, a β(3)-adrenoceptor agonist, has been developed for the treatment of overactive bladder (OAB).To assess the efficacy and tolerability of mirabegron versus placebo.Multicenter randomised double-blind, parallel-group placebo- and tolterodine-controlled phase 3 trial conducted in 27 countries in Europe and Australia in patients ≥ 18 yr of age with symptoms of OAB for ≥ 3 mo.After a 2-wk single-blind placebo run-in period, patients were randomised to receive placebo, mirabegron 50mg, mirabegron 100mg, or tolterodine extended release 4 mg orally once daily for 12 wk.Patients completed a micturition diary and quality-of-life (QoL) assessments.", "Mirabegron is the first β3-adrenoceptor agonist that is clinically effective for overactive bladder.The effects of mirabegron on primary bladder mechanosensitive single-unit afferent activities (SAAs) and bladder microcontractions were evaluated and compared with the effects of oxybutynin.Female Sprague-Dawley rats were anesthetized", "Mirabegron exhibits a novel mode of action in targeting the β₃-AR for bladder relaxation, and the studies and trials conducted to date suggest mirabegron as a promising new treatment in the management of OAB symptoms, such as increased urinary urgency and frequency, and urgency incontinence", "Mirabegron has been approved in Japan for the indication of urgency, urinary frequency and urge urinary incontinence associated with OAB, and was recently submitted for approval to U.S. and European authorities for the same indication", "The clinical indication for mirabegron is overactive bladder with symptoms of urge urinary incontinence, urgency, and urinary frequency and other storage symptoms in both men and women.", "Mirabegron's efficacy on frequency, urgency, and urge incontinence was tested in several trials before its wide clinical introduction.", "To discuss the pharmacotherapeutic aspects of Mirabegron which is a first-in class novel β3 receptor agonist drug recently approved by the food and drug administration (FDA) for the treatment of overactive bladder (OAB).We conducted a computerized search of the MEDLINE/PUBMED databases with the word Mirabegron, β3 receptor agonist and overactive bladder.Effect of Mirabegron on β3 adrenergic receptor purportedly releases nitric oxide(NO) by an increase in intracellular Ca2+ through accumulation of cyclic adenosine monophosphate (cAMP).", "Mirabegron for the treatment of overactive bladder.", "Mirabegron: a Beta-3 agonist for overactive bladder.", "[MIRABEGRON--A NEW DRUG FOR TREATMENT OF OVERACTIVE BLADDER].", "Phase III clinical trials in patients with overactive bladder (OAB), mirabegron at daily doses of 25, 50, and 100 mg demonstrated significant efficacy in treating the symptoms of OAB, including micturition frequency, urgency incontinence, and urgency.", "To review the place in therapy of mirabegron, a new oral β3-adrenergic receptor agonist, for the treatment of overactive bladder (OAB", "Mirabegron (YM178) is a β(3)-adrenoceptor agonist for the treatment of overactive bladder (OAB).", "Two new therapies have emerged for treating overactive bladder (OAB): Mirabegron", " OnabotulinumtoxinA and mirabegron have recently gained marketing authorisation to treat symptoms of overactive bladder (OAB).", "irabegron (YM-178), currently in development by Astellas Pharma Inc, is an orally active β₃-adrenoceptor (AR) agonist for the potential symptomatic treatment of overactive bladder (OAB). ", "To evaluate the efficacy and safety of the β3 -adrenoceptor agonist, mirabegron, compared with placebo in Japanese patients with overactive bladder (OAB).", "Mirabegron is the first β3 -adrenoceptor agonist approved for treatment of overactive bladder syndrome. ", "To examine the effects of mirabegron, a selective β3 -adrenoceptor agonist that has recently been approved for the treatment of overactive bladder (OAB", "mirabegron is a β3-adrenoceptor agonist developed for the treatment of symptoms of overactive bladder (OAB).", "mirabegron, a β3-adrenoceptor agonist for the treatment of overactive bladder,", "critically analyse available phase II and III randomised control trials (RCTs) reporting clinical data about the efficacy and tolerability of Mirabegron (a β₃-adrenoceptor agonist) in the treatment of overactive bladder (OAB) syndrome" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26908514", "http://www.ncbi.nlm.nih.gov/pubmed/24127366", "http://www.ncbi.nlm.nih.gov/pubmed/24078498", "http://www.ncbi.nlm.nih.gov/pubmed/24610862", "http://www.ncbi.nlm.nih.gov/pubmed/23757386", "http://www.ncbi.nlm.nih.gov/pubmed/26665779", "http://www.ncbi.nlm.nih.gov/pubmed/26422675", "http://www.ncbi.nlm.nih.gov/pubmed/23063375", "http://www.ncbi.nlm.nih.gov/pubmed/25521658", "http://www.ncbi.nlm.nih.gov/pubmed/23089348", "http://www.ncbi.nlm.nih.gov/pubmed/23850394", "http://www.ncbi.nlm.nih.gov/pubmed/23182126", "http://www.ncbi.nlm.nih.gov/pubmed/26501573", "http://www.ncbi.nlm.nih.gov/pubmed/22981677", "http://www.ncbi.nlm.nih.gov/pubmed/25791612", "http://www.ncbi.nlm.nih.gov/pubmed/27124860", "http://www.ncbi.nlm.nih.gov/pubmed/24602031", "http://www.ncbi.nlm.nih.gov/pubmed/26663687", "http://www.ncbi.nlm.nih.gov/pubmed/26493129", "http://www.ncbi.nlm.nih.gov/pubmed/20878594", "http://www.ncbi.nlm.nih.gov/pubmed/22384458", "http://www.ncbi.nlm.nih.gov/pubmed/24458878" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/chebi/id/CHEBI:65349", "o": "mirabegron" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C2983812", "o": "http://linkedlifedata.com/resource/umls/label/A19588156" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A19588156", "o": "mirabegron" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C2983812", "o": "http://linkedlifedata.com/resource/umls/label/A20837597" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A20837597", "o": "mirabegron" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D053201" ]

[ "Tardive dyskinesia (TD) is a movement disorder characterized by abnormal involuntary facial movements induced by chronic therapy with classical antipsychotic medications." ]

[ "Tardive dyskinesia (TD) is a movement disorder characterized by abnormal involuntary facial movements induced by chronic therapy with classical antipsychotic medications." ]

[ ": Free radicals may be involved in the pathogenesis of tardive dyskinesia (TD). ", "Tardive dyskinesia (TD) is a serious, often disabling, movement disorder that is caused by medications that block dopamine receptors (i.e., neuroleptics, anti-emetics). ", "Antipsychotics may cause tardive dyskinesia in humans and orofacial dyskinesia in rodents.", "Tardive dyskinesia (TD) is a movement disorder characterized by abnormal involuntary facial movements induced by chronic therapy with classical antipsychotic medications.", "The objective of this report is to draw attention to tardive dyskinesia (TD) caused by aripiprazole, a third generation antipsychotic. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26979525", "http://www.ncbi.nlm.nih.gov/pubmed/24747871", "http://www.ncbi.nlm.nih.gov/pubmed/20818603", "http://www.ncbi.nlm.nih.gov/pubmed/23157631", "http://www.ncbi.nlm.nih.gov/pubmed/24310603" ]

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[ "yes", "Yes. SNPs within ultraconserved elements (UCEs) may be valuable prognostic biomarkers for patients with locally advanced CRC who receive 5-fluorouracil-based chemotherapy." ]

[ "yes" ]

[ "Genetic variants within ultraconserved elements and susceptibility to right- and left-sided colorectal adenocarcinoma", "Our results strongly suggest that several genetic variants in the UCEs may contribute to CRC susceptibility, individually and jointly, and that different genetic etiology may be involved in RCRC and LCRC", "Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma", "To the authors' knowledge, this is the first study to evaluate the association between SNPs within UCEs and clinical outcome in patients with CRC. The results suggested that SNPs within UCEs may be valuable prognostic biomarkers for patients with locally advanced CRC who receive 5-fluorouracil-based chemotherapy", "Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma.", "Genetic variants within ultraconserved elements and susceptibility to right- and left-sided colorectal adenocarcinoma.", "We investigated whether single nucleotide polymorphisms within ultraconserved elements (UCEs) are associated with susceptibility to overall colorectal cancer (CRC) and susceptibility to tumor site-specific CRC.", "We investigated whether single nucleotide polymorphisms within ultraconserved elements (UCEs) are associated with susceptibility to overall colorectal cancer (CRC) and susceptibility to tumor site-specific CRC", "Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma.", "Genetic variants within ultraconserved elements and susceptibility to right- and left-sided colorectal adenocarcinoma.", "Expression levels of transcribed ultraconserved regions uc.73 and uc.388 are altered in colorectal cancer." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22318908", "http://www.ncbi.nlm.nih.gov/pubmed/22328099", "http://www.ncbi.nlm.nih.gov/pubmed/22673945" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C1319315", "o": "Colorectal Adenocarcinoma" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C1319315", "o": "http://linkedlifedata.com/resource/umls/label/A18681147" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18681147", "o": "colorectal adenocarcinoma" } ]

[ "http://www.disease-ontology.org/api/metadata/DOID:0050861", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D050436", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015179" ]

[ "PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease. Several previous variant pathogenicity prediction methods have been proposed that quantify evolutionary conservation among homologous proteins from different organisms. PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors. ", "PANTHER-PSEP is a software tool for predicting non-synonymous genetic variants that may play a causal role in human disease. PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors.", "PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease." ]

[]

[ "PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.", "PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease. Several previous variant pathogenicity prediction methods have been proposed that quantify evolutionary conservation among homologous proteins from different organisms. PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors. ", "PANTHER-PSEP is a new software tool for predicting non-synonymous genetic variants that may play a causal role in human disease.", "PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors.", "PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.", "PANTHER-PSEP employs a related but distinct metric based on 'evolutionary preservation': homologous proteins are used to reconstruct the likely sequences of ancestral proteins at nodes in a phylogenetic tree, and the history of each amino acid can be traced back in time from its current state to estimate how long that state has been preserved in its ancestors." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27193693" ]

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[ "MPE-seq (methidiumpropyl-EDTA sequencing) is a new method for the genome-wide characterization of chromatin that involves the digestion of nuclei with MPE-Fe(II) followed by massively parallel sequencing. Like micrococcal nuclease (MNase), MPE-Fe(II) preferentially cleaves the linker DNA between nucleosomes. However, there are differences in the cleavage of nuclear chromatin by MPE-Fe(II) relative to MNase. MPE-seq provides a unique and straightforward means for the genome-wide analysis of chromatin structure with minimal DNA sequence bias. In particular, the combined use of MPE-seq and MNase-seq enables the identification of noncanonical chromatin structures that are likely to be important for the regulation of gene expression." ]

[]

[ "MPE-seq, a new method for the genome-wide analysis of chromatin structure.", "The analysis of chromatin structure is essential for the understanding of transcriptional regulation in eukaryotes. Here we describe methidiumpropyl-EDTA sequencing (MPE-seq), a method for the genome-wide characterization of chromatin that involves the digestion of nuclei withMPE-Fe(II) followed by massively parallel sequencing. Like micrococcal nuclease (MNase), MPE-Fe(II) preferentially cleaves the linker DNA between nucleosomes. However, there are differences in the cleavage of nuclear chromatin by MPE-Fe(II) relative to MNase. Most notably, immediately upstream of the transcription start site of active promoters, we frequently observed nucleosome-sized (141-190 bp) and subnucleosome-sized (such as 101-140 bp) peaks of digested chromatin fragments with MPE-seq but not with MNase-seq. These peaks also correlate with the presence of core histones and could thus be due, at least in part, to noncanonical chromatin structures such as labile nucleosome-like particles that have been observed in other contexts.", "These findings collectively indicate that MPE-seq provides a unique and straightforward means for the genome-wide analysis of chromatin structure with minimal DNA sequence bias. In particular, the combined use of MPE-seq and MNase-seq enables the identification of noncanonical chromatin structures that are likely to be important for the regulation of gene expression.", "These findings collectively indicate that MPE-seq provides a unique and straightforward means for the genome-wide analysis of chromatin structure with minimal DNA sequence bias.", "In particular, the combined use of MPE-seq and MNase-seq enables the identification of noncanonical chromatin structures that are likely to be important for the regulation of gene expression.", "Here we describe methidiumpropyl-EDTA sequencing (MPE-seq), a method for the genome-wide characterization of chromatin that involves the digestion of nuclei withMPE-Fe(II) followed by massively parallel sequencing.", "In particular, the combined use of MPE-seq and MNase-seq enables the identification of noncanonical chromatin structures that are likely to be important for the regulation of gene expression.", "MPE-seq, a new method for the genome-wide analysis of chromatin structure.", "These findings collectively indicate that MPE-seq provides a unique and straightforward means for the genome-wide analysis of chromatin structure with minimal DNA sequence bias.", "Here we describe methidiumpropyl-EDTA sequencing (MPE-seq), a method for the genome-wide characterization of chromatin that involves the digestion of nuclei withMPE-Fe(II) followed by massively parallel sequencing." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26080409" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0004793", "o": "nucleic acid sequencing" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017422", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020411" ]

[ "Bezlotoxumab (Zinplava™) is a human monoclonal antibody against Clostridium difficile toxin B (TcdB). It is used for prevention of recurrent C. difficile infections." ]

[]

[ "Bezlotoxumab (Zinplava™) is a human monoclonal antibody against Clostridium difficile toxin B developed by Merck&Co. ", "Circulating neutralizing antitoxin antibodies are protective in C. difficile infection (CDI), as demonstrated, in part, by the protective effects of actoxumab and bezlotoxumab, which bind to and neutralize TcdA and TcdB, respectively.", "Actoxumab and bezlotoxumab are human monoclonal antibodies that neutralize the cytotoxic/cytopathic effects of TcdA and TcdB, respectively. ", "We compared the bezlotoxumab epitopes in the TcdB receptor binding domain across known TcdB sequences and found that key substitutions within the bezlotoxumab epitopes correlated with the relative differences in potencies of bezlotoxumab against TcdB of some strains, including ribotypes 027 and 078.", "Mechanism of action and epitopes of Clostridium difficile toxin B-neutralizing antibody bezlotoxumab revealed by X-ray crystallography.", "A combination of the anti-TcdA antibody actoxumab and the anti-TcdB antibody bezlotoxumab is currently under development for the prevention of recurrent C. difficile infections. We demonstrate here through various biophysical approaches that bezlotoxumab binds to specific regions within the N-terminal half of the TcdB CROP domain. ", "We also show that bezlotoxumab neutralizes TcdB by blocking binding of TcdB to mammalian cells. Overall, our data are consistent with a model wherein a single molecule of bezlotoxumab neutralizes TcdB by binding via its two Fab regions to two epitopes within the N-terminal half of the TcdB CROP domain, partially blocking the carbohydrate binding pockets of the toxin and preventing toxin binding to host cells.", "We compared the bezlotoxumab epitopes in the TcdB receptor binding domain across known TcdB sequences and found that key substitutions within the bezlotoxumab epitopes correlated with the relative differences in potencies of bezlotoxumab against TcdB of some strains, including ribotypes 027 and 078.", "We also show that bezlotoxumab neutralizes TcdB by blocking binding of TcdB to mammalian cells.", "Bezlotoxumab (Zinplava™) is a human monoclonal antibody against Clostridium difficile toxin B developed by Merck & Co.", "Actoxumab and bezlotoxumab are human monoclonal antibodies that neutralize the cytotoxic/cytopathic effects of TcdA and TcdB, respectively.", "The monoclonal antitoxin antibodies actoxumab (anti-TcdA) and bezlotoxumab (anti-TcdB) are currently in development for the prevention of recurrent CDI.", "A combination of human monoclonal antibodies, actoxumab and bezlotoxumab, directed against TcdA and TcdB, respectively, has been shown to decrease the rate of recurrence in patients treated with standard-of-care antibiotics", "Circulating neutralizing antitoxin antibodies are protective in C. difficile infection (CDI), as demonstrated, in part, by the protective effects of actoxumab and bezlotoxumab, which bind to and neutralize TcdA and TcdB, respectively", "We demonstrate here through various biophysical approaches that bezlotoxumab binds to specific regions within the N-terminal half of the TcdB CROP domain.", "Based on this information, we solved the x-ray structure of the N-terminal half of the TcdB CROP domain bound to Fab fragments of bezlotoxumab.", "The structure reveals that the TcdB CROP domain adopts a β-solenoid fold consisting of long and short repeats and that bezlotoxumab binds to two homologous sites within the CROP domain, partially occluding two of the four putative carbohydrate binding pockets located in TcdB.", "Overall, our data are consistent with a model wherein a single molecule of bezlotoxumab neutralizes TcdB by binding via its two Fab regions to two epitopes within the N-terminal half of the TcdB CROP domain, partially blocking the carbohydrate binding pockets of the toxin and preventing toxin binding to host cells. <CopyrightInformation>© 2014 by The American Society for Biochemistry and Molecular Biology, Inc.</C", "Mechanism of action and epitopes of Clostridium difficile toxin B-neutralizing antibody bezlotoxumab revealed by X-ray crystallography.", "We also show that bezlotoxumab neutralizes TcdB by blocking binding of TcdB to mammalian cells." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27905086", "http://www.ncbi.nlm.nih.gov/pubmed/27753689", "http://www.ncbi.nlm.nih.gov/pubmed/25385797", "http://www.ncbi.nlm.nih.gov/pubmed/25486992", "http://www.ncbi.nlm.nih.gov/pubmed/24821719", "http://www.ncbi.nlm.nih.gov/pubmed/27527088", "http://www.ncbi.nlm.nih.gov/pubmed/25451052", "http://www.ncbi.nlm.nih.gov/pubmed/27757389" ]

[]

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

[ "Yes, apremilast is effective for treatment of psoriasis." ]

[ "yes" ]

[ "CONCLUSION: Apremilast reduces the severity of nail/scalp psoriasis.", "CONCLUSIONS: Apremilast demonstrated clinically meaningful improvements in psoriatic arthritis and psoriasis at week 16; sustained improvements were seen with continued treatment through 52 weeks.", "Apremilast: A Novel Drug for Treatment of Psoriasis and Psoriatic Arthritis.", "In those that involved doses of 30 mg twice daily, a significantly greater percentage of patients receiving apremilast (28.8% to 40.9%) compared with placebo (5.3% to 5.8%) achieved at least 75% improvement from baseline in Psoriasis Area and Severity Index score at 16 weeks.", "CONCLUSIONS: Apremilast has a novel mechanism of action and is safe and effective for the management of psoriasis and psoriatic arthritis. At this time, apremilast should be reserved for patients unable to take disease-modifying antirheumatic drugs.", "Apremilast, an oral phosphodiesterase 4 (PDE4) inhibitor, in patients with moderate to severe plaque psoriasis: Results of a phase III, randomized, controlled trial (Efficacy and Safety Trial Evaluating the Effects of Apremilast in Psoriasis [ESTEEM] 1).", "More recently, three larger double-blinded, and randomized multicenter studies demonstrate that apremilast is efficacious in the treatment of psoriasis and PsA, with significantly higher numbers of apremilast-treated patients achieving endpoints of a 75% reduction compared to baseline in Psoriasis Area and Severity Index (PASI-75) or American College of Rheumatology-20 scores, relative to placebo.", "No new significant adverse events emerged with continued apremilast exposure versus the placebo-controlled period.Data were limited to 52 weeks and may not generalize to nonplaque psoriasis.Apremilast was effective in moderate to severe plaque psoriasis.<CopyrightInformation>Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.</", "Apremilast, a small molecule specific inhibitor of phosphodiesterase 4, works intracellularly to modulate pro-inflammatory and anti-inflammatory mediator production.Assess apremilast efficacy and safety in moderate to severe plaque psoriasis.Phase II, 12-week, multicenter, double-blind, placebo-controlled, parallel-group, dose-comparison study of 259 subjects randomized 1 : 1 : 1 to placebo, apremilast 20 mg QD or apremilast 20 mg BID.More subjects receiving apremilast 20 mg BID achieved ≥ 75% reduction in Psoriasis Area and Severity Index (PASI-75) vs. placebo (24.4% vs. 10.3%; P = 0.023)", "Apremilast, a specific inhibitor of phosphodiesterase 4, modulates pro-inflammatory and anti-inflammatory cytokine production.Apremilasts effect on patient-reported outcomes (PROs) in patients with moderate to severe psoriasis was evaluated in a phase IIb randomized, controlled trial (NCT00773734).In this 16-week, placebo-controlled study, 352 patients with moderate to severe plaque psoriasis received placebo or apremilast (10, 20, or 30 mg BID)", "Although further longer-term and comparative efficacy and tolerability data would be beneficial, the current clinical data indicate that apremilast is an effective and well tolerated option for the management of psoriasis and PsA in adults", "More recently, three larger double-blinded, and randomized multicenter studies demonstrate that apremilast is efficacious in the treatment of psoriasis and PsA, with significantly higher numbers of apremilast-treated patients achieving endpoints of a 75% reduction compared to baseline in Psoriasis Area and Severity Index (PASI-75) or American College of Rheumatology-20 scores, relative to placebo", "No deaths or opportunistic infections were reported.Apremilast 20 mg BID for 12 weeks was effective and well tolerated in subjects with moderate to severe plaque psoriasis.<CopyrightInformation>© 2012 The Authors", "In addition, GlaxoSmithKline plc is developing 256066, an inhaled formulation of a PDE4 inhibitor that has demonstrated efficacy in trials in asthma, and apremilast from Celgene Corp has been reported to be effective for the treatment of psoriasis.", "Although further longer-term and comparative efficacy and tolerability data would be beneficial, the current clinical data indicate that apremilast is an effective and well tolerated option for the management of psoriasis and PsA in adults.", "No new significant adverse events emerged with continued apremilast exposure versus the placebo-controlled period.Data were limited to 52 weeks and may not generalize to nonplaque psoriasis.Apremilast was effective in moderate to severe plaque psoriasis.<CopyrightInformation>Copyright © 2015 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.</C", "Several drug peculiarities, such as the low frequency of adverse events and the oral route of administration, make apremilast an innovative treatment for moderate-to-severe psoriasis.", "Two new oral medications, apremilast and tofacitinib, have been developed for their immunomodulatory properties, and their potential efficacy in treating psoriasis is being evaluated.We reviewed phase III randomized, placebo-controlled clinical trial results for apremilast and tofacitinib for efficacy and safety in psoriasis.Psoriasis Area and Severity Index (PASI) 75 after 16 weeks for apremilast was between 28.8% and 33.1%.", "Apremilast was effective in moderate to severe plaque psoriasis..", "Both new oral medications, apremilast and tofacitinib, appear to be effective in treating psoriasis.", "Apremilast was effective in the treatment of moderate-to-severe plaque psoriasis over 52 weeks..", "Apremilast is an effective and well-tolerated option in treating moderate-to-severe plaque psoriasis.", "Apremilast has a novel mechanism of action and is safe and effective for the management of psoriasis and psoriatic arthritis.", "Apremilast 20 mg BID for 12 weeks was effective and well tolerated in subjects with moderate to severe plaque psoriasis..", "Apremilast for the treatment of psoriasis.", "Apremilast, an oral phosphodiesterase-4 inhibitor, in the treatment of palmoplantar psoriasis: Results of a pooled analysis from phase II PSOR-005 and phase III Efficacy and Safety Trial Evaluating the Effects of Apremilast in Psoriasis (ESTEEM) clinical trials in patients with moderate to severe psoriasis." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27376729", "http://www.ncbi.nlm.nih.gov/pubmed/26923915", "http://www.ncbi.nlm.nih.gov/pubmed/26220911", "http://www.ncbi.nlm.nih.gov/pubmed/22712800", "http://www.ncbi.nlm.nih.gov/pubmed/26243735", "http://www.ncbi.nlm.nih.gov/pubmed/26644232", "http://www.ncbi.nlm.nih.gov/pubmed/26806620", "http://www.ncbi.nlm.nih.gov/pubmed/26549249", "http://www.ncbi.nlm.nih.gov/pubmed/27486641", "http://www.ncbi.nlm.nih.gov/pubmed/23663752", "http://www.ncbi.nlm.nih.gov/pubmed/24595547", "http://www.ncbi.nlm.nih.gov/pubmed/26954311", "http://www.ncbi.nlm.nih.gov/pubmed/26357944", "http://www.ncbi.nlm.nih.gov/pubmed/20419594", "http://www.ncbi.nlm.nih.gov/pubmed/26267722", "http://www.ncbi.nlm.nih.gov/pubmed/26089047", "http://www.ncbi.nlm.nih.gov/pubmed/23569359", "http://www.ncbi.nlm.nih.gov/pubmed/26892034", "http://www.ncbi.nlm.nih.gov/pubmed/26783350", "http://www.ncbi.nlm.nih.gov/pubmed/27538241", "http://www.ncbi.nlm.nih.gov/pubmed/26660203", "http://www.ncbi.nlm.nih.gov/pubmed/26820148", "http://www.ncbi.nlm.nih.gov/pubmed/26837052", "http://www.ncbi.nlm.nih.gov/pubmed/27021239", "http://www.ncbi.nlm.nih.gov/pubmed/23030767", "http://www.ncbi.nlm.nih.gov/pubmed/26792812" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0033860", "o": "psoriasis" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0033860", "o": "http://linkedlifedata.com/resource/umls/label/A0487662" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0487662", "o": "psoriasis" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C1678805", "o": "APREMILAST" }, { "p": "http://www.w3.org/2008/05/skos-xl#prefLabel", "s": "http://linkedlifedata.com/resource/umls/id/C1678805", "o": "http://linkedlifedata.com/resource/umls/label/A15589751" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A15589751", "o": "apremilast" } ]

[ "http://www.disease-ontology.org/api/metadata/DOID:8893", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011565" ]

[ "Yes. The alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) are associated with light skin pigmentation in Eurasian population." ]

[ "yes" ]

[ "the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation in Eurasian populati", "Associations between five single nucleotide polymorphisms (SNPs) known to play a role in pigmentation (rs1426654-SLC24A5, rs1042602-TYR, rs16891982-SLC45A2, rs6058017-ASIP, and rs642742-KITLG) and MI measures were tested using standard one-way analysis of variance (ANOVA) within each population." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25370040", "http://www.ncbi.nlm.nih.gov/pubmed/26918427" ]

[]

[]

[ "Arboviruses are transmitted by arthropods." ]

[ "By arthropods" ]

[ "Epizootic congenital abnormalities, encephalomyelitis and febrile illnesses in cattle caused by arthropod-borne viruses (arboviruses) are prevalent in Japan", " Zika virus (ZIKV) is an arthropod-borne virus (arbovirus) transmitted by mosquitoes. ", "Nine different arboviruses are known to be transmitted by, or associated with, mosquitoes in Europe, and several (West Nile, Sindbis and Tahyna viruses) are reported to cause outbreaks of human disease", "Arthropod-borne viruses (arboviruses) are transmitted to humans primarily through the bites of infected mosquitoes and ticks", "Arboviruses are transmitted among vertebrates by biting insects, chiefly mosquitoes and ticks", "Arboviruses are transmitted by distantly related arthropod vectors such as mosquitoes (class Insecta) and ticks (class Arachnida)", "Mosquito-transmitted arthropod-borne viruses (arboviruses) such as dengue virus, chikungunya virus, and West Nile virus constitute a major public health burden and are increasing in severity and frequency worldwide.", "Malaria and Japanese encephalitis are the two most serious human diseases transmitted by riceland mosquitoes, but they have been incriminated as vectors of dozens of arboviruses and other parasites and pathogens including the causal agents of West Nile and Rift Valley Fevers and lymphatic filariasis.", "Arboviruses are transmitted by distantly related arthropod vectors such as mosquitoes (class Insecta) and ticks (class Arachnida).", "Many of them are transmitted by insects (arboviruses, e.g. yellow fever virus) or by rodents (e.g. Hanta viruses), others by contact with patients and nosocomial infections (e.g. Ebola virus).", "Arboviruses - viruses transmitted by haematophagous arthropods - are responsible for febrile syndromes, which sometimes include haemorrhagic or neurological symptoms.", "Arboviruses are transmitted to vertebral hosts during blood feedings by mosquitoes, ticks, biting flies, mites, and nits.", "Arboviruses transmitted by mosquitoes are a major cause of human disease worldwide.", "Diseases caused by arboviruses transmitted by Aedes aegypti, such as dengue, chikungunya and Zika, continue to rise in annual incidence and geographic expansion.", "Arboviruses transmitted by ticks must adapt to the peculiar physiological and behavioral characteristics of ticks, particularly with regard to blood feeding, bloodmeal digestion, and molting.", "The last decade has seen significant changes in the epidemiology of arboviruses transmitted by mosquitoes of the genus Aedes, particularly in relation to the intercontinental spread of Aedes albopictus.", "This technique enables the detection of 70 of the 80 arboviruses transmitted by mosquitoes in Africa and very easily detects arbovirus associations by using either monospecific or monoclonal immune ascitic fluids (dengue-1-2-3-4 and yellow fever viruses) used in the indirect immunofluorescence technique.." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26141429", "http://www.ncbi.nlm.nih.gov/pubmed/10488638", "http://www.ncbi.nlm.nih.gov/pubmed/21658241", "http://www.ncbi.nlm.nih.gov/pubmed/26925368", "http://www.ncbi.nlm.nih.gov/pubmed/16893487", "http://www.ncbi.nlm.nih.gov/pubmed/25597441", "http://www.ncbi.nlm.nih.gov/pubmed/27220616", "http://www.ncbi.nlm.nih.gov/pubmed/1973949", "http://www.ncbi.nlm.nih.gov/pubmed/26363996", "http://www.ncbi.nlm.nih.gov/pubmed/1297177", "http://www.ncbi.nlm.nih.gov/pubmed/27869394", "http://www.ncbi.nlm.nih.gov/pubmed/24941331", "http://www.ncbi.nlm.nih.gov/pubmed/26283013", "http://www.ncbi.nlm.nih.gov/pubmed/8158611", "http://www.ncbi.nlm.nih.gov/pubmed/25053841" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0003725", "o": "Arboviruses" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0003725", "o": "http://linkedlifedata.com/resource/umls/label/A18608581" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18608581", "o": "arboviruses" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007303", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018562", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001103", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001102" ]

[ "Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages. Both regions exhibit a significant reduction in length and gene number in B. aphidicola BCc, as it could be expected since it possess the smallest bacterial genome. We sequenced genomes of the obligate symbionts, Sulcia muelleri and Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus (Auchenorrhyncha: Cicadellidae). ", "Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus has the smallest bacterial genome yet sequenced (112 kb).", "Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages. We sequenced genomes of the obligate symbionts, Sulcia muelleri and Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus (Auchenorrhyncha: Cicadellidae).", "sequenced genomes of the obligate symbionts , sulcia muelleri and nasuia deltocephalinicola , of the phloem-feeding pest insect , macrosteles quadrilineatus (auchenorrhyncha: cicadellidae). . regions exhibit a significant reduction in length and gene number in b aphidicola bcc , as it could be expected since it possess the smallest bacterial genome. . results reveal that nasuia-alf has the smallest bacterial genome yet sequenced (112 kb) , and that the sulcia-alf genome (190 kb) is smaller than that of sulcia in other insect lineages. . ", "Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages. Both regions exhibit a significant reduction in length and gene number in B. aphidicola BCc, as it could be expected since it possess the smallest bacterial genome.", "Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages.", "our results reveal that nasuia-alf has the smallest bacterial genome yet sequenced (112 kb), and that the sulcia-alf genome (190 kb) is smaller than that of sulcia in other insect lineages." ]

[ "Nasuia deltocephalinicola" ]

[ "Our results reveal that Nasuia-ALF has the smallest bacterial genome yet sequenced (112 kb), and that the Sulcia-ALF genome (190 kb) is smaller than that of Sulcia in other insect lineages.", "We sequenced genomes of the obligate symbionts, Sulcia muelleri and Nasuia deltocephalinicola, of the phloem-feeding pest insect, Macrosteles quadrilineatus (Auchenorrhyncha: Cicadellidae)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23918810" ]

[]

[]

[ "The classic triad of symptoms are episodic headache, excessive sweating (diaphoresis) and palpitation." ]

[ "headache", "excessive sweating", "diaphoresis", "palpitation" ]

[ "Diaphoresis (LR+ 2.2, LR- 0.45), Palpitation (LR+ 1.9, LR- 0.52) and headache (LR+ 1.6, LR- 0.24) were significant symptoms in clinical diagnosis of pheochromocytoma. ", "In the 52 cases analyzed, 40 of the patients had symptoms: 31 patients had hypertension; 10 had the triad of palpitations, diaphoresis, and headaches; and all had elevated urinary metanephrine concentrations.", " The symptoms and signs of pheochromocytoma include the classic triad of episodic headache, increased sweating, and palpitations. ", "Among the presenting symptoms, episodes of palpitations, headaches, and profuse sweating are typical and constitute a classic triad.", "The classic triad of symptoms are episodic headache, excessive sweating and palpitation. ", "The symptoms and signs of pheochromocytoma include the classic triad of episodic headache, increased sweating, and palpitations.", "Combinations of symptoms can be of value: 2 or more symptoms from the triad of headache, palpitations, and diaphoresis were present in the majority of pheochromocytoma patients, but in a smaller number of non-pheochromocytoma patients.", "The symptoms and signs of pheochromocytoma include the classic triad of episodic headache, increased sweating, and palpitations", "Pheochromocytoma in pregnancy is rare, and if unrecognized, can cause serious perinatal morbidity and mortality.A patient with severe hypertension, postpartum pulmonary edema, and a recognized pheochromocytoma is described.Abdominal palpation after vaginal childbirth reproduced the diagnostic triad of hypertension, headaches, and palpitations", "Combinations of symptoms can be of value: 2 or more symptoms from the triad of headache, palpitations, and diaphoresis were present in the majority of pheochromocytoma patients, but in a smaller number of non-pheochromocytoma patients", "Although hypertension, headache, and diaphoresis are common symptoms in a dialyzed patient, pheochromocytoma has to be eliminated in the presence of this clinical triad", "Pheochromocytomas are catecholamine producing tumors that classically present with the triad of sweating, palpitations and headache.9-year-old boy whose only presenting complaints were polyuria and polydipsia for 2 years.Routine measurement of blood pressure detected mild hypertension, and subsequent investigations revealed bilateral pheochromocytoma.Surgical removal of the tumors resulted in complete resolution of polyuria and polydipsia.The case highlights the importance of measuring BP for children as part of physical examination", "The symptoms and signs of pheochromocytoma include the classic triad of episodic headache, increased sweating, and palpitations.", "Although hypertension, headache, and diaphoresis are common symptoms in a dialyzed patient, pheochromocytoma has to be eliminated in the presence of this clinical triad.", "Combinations of symptoms can be of value: 2 or more symptoms from the triad of headache, palpitations, and diaphoresis were present in the majority of pheochromocytoma patients, but in a smaller number of non-pheochromocytoma patients.", "In the 52 cases analyzed, 40 of the patients had symptoms: 31 patients had hypertension; 10 had the triad of palpitations, diaphoresis, and headaches; and all had elevated urinary metanephrine concentrations.", "The classic triad of symptoms are episodic headache, excessive sweating and palpitation.", "The clinical symptoms of these tumors vary from isolated hypertension or hypertension accompanied by paroxysmal episodes -including the classical triad of headache, palpitations and diaphoresis-to potentially serious manifestations such as acute pulmonary edema, arrhythmias and sudden death.", "A very few symptoms were specific, like the triad \"headaches, sweating, palpitations\" whose onlyone third of patients was concerned by.", "Classically, a triad of symptoms includes sweating, palpitations, and headache.", "The triad of diaphoresis, tachycardia, and headache in hypertensive patients is highly suggestive of pheochromocytoma.", "A very few symptoms were specific, like the triad \"headaches, sweating, palpitations\" whose onlyone third of patients was concerned by.", "We noticed, like others, when the triad of headache, sweating and palpitations is accompanied by hypertension, the diagnosis of pheochromocytoma can be made with specify and sensitivity over 93%." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23513638", "http://www.ncbi.nlm.nih.gov/pubmed/8302154", "http://www.ncbi.nlm.nih.gov/pubmed/12584992", "http://www.ncbi.nlm.nih.gov/pubmed/27034920", "http://www.ncbi.nlm.nih.gov/pubmed/24059371", "http://www.ncbi.nlm.nih.gov/pubmed/1988766", "http://www.ncbi.nlm.nih.gov/pubmed/19497985", "http://www.ncbi.nlm.nih.gov/pubmed/17102071", "http://www.ncbi.nlm.nih.gov/pubmed/12002199", "http://www.ncbi.nlm.nih.gov/pubmed/20169139", "http://www.ncbi.nlm.nih.gov/pubmed/12814824", "http://www.ncbi.nlm.nih.gov/pubmed/21125743", "http://www.ncbi.nlm.nih.gov/pubmed/24382904", "http://www.ncbi.nlm.nih.gov/pubmed/22980466", "http://www.ncbi.nlm.nih.gov/pubmed/18206604", "http://www.ncbi.nlm.nih.gov/pubmed/1867186", "http://www.ncbi.nlm.nih.gov/pubmed/22953071", "http://www.ncbi.nlm.nih.gov/pubmed/26998444", "http://www.ncbi.nlm.nih.gov/pubmed/21226896", "http://www.ncbi.nlm.nih.gov/pubmed/16789642" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010673" ]

[ "Cardiorenal syndromes (CRS) have been recently classified into five distinct entities, each with different major pathophysiologic mechanisms. \nCRS type 1: acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. \nCRS type 2: chronic abnormalities in heart function (CHF-CHD) leading to kidney injury or dysfunction. \nCRS type 3: acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. \nCRS type 4: chronic kidney disease (CKD) leading to heart injury, disease and/or dysfunction. \nCRS type 5: systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney." ]

[ "CRS type 1", "CRS type 2", "CRS type 3", "CRS type 4", "CRS type 5" ]

[ "The general definition has been expanded into five subtypes: CRS type 1 = acute worsening of heart function (acute heart failure-acute coronary syndrome) leading to kidney injury and/or dysfunction; CRS type 2 = chronic abnormalities in heart function (chronic heart failure-chronic heart disease) leading to kidney injury or dysfunction; CRS type 3 = acute worsening of kidney function (acute kidney injury) leading to heart injury and/or dysfunction; CRS type 4 = chronic kidney disease (chronic kidney disease) leading to heart injury, disease and/or dysfunction; and CRS type 5 = systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. ", "Cardiorenal syndromes (CRS) have been recently classified into five distinct entities, each with different major pathophysiologic mechanisms. CRS type 1 most commonly occurs in the setting of acutely decompensated heart failure where approximately 25% of patients develop a rise in serum creatinine and a reduction of urine output after the first several doses of intravenous diuretics. ", "CRS type 2 is the hastened progression of chronic kidney disease (CKD) in the setting of chronic heart failure. ", "CRS type 3 is acutely decompensated heart failure after acute kidney injury from inflammatory, toxic, or ischemic insults. ", "CRS type 4 is manifested by the acceleration of the progression of chronic heart failure in the setting of CKD. Cardiac myocyte dysfunction and fibrosis, so-called 'CKD cardiomyopathy', is believed to be the predominant pathophysiologic mechanism. Type 5 CRS is simultaneous acute cardiac and renal injury in the setting of an overwhelming systemic insult such as sepsis. ", "CRS type I: acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. CRS type II: chronic abnormalities in heart function (CHF-CHD) leading to kidney injury or dysfunction. CRS type III: acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. CRS type IV: chronic kidney disease (CKD) leading to heart injury, disease and/or dysfunction. CRS type V: systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. ", "Acute CRS (type 1): acute worsening of heart function (AHF-ACS) leading to kidney injury and/or dysfunction. Chronic cardio-renal syndrome (type 2): chronic abnormalities in heart function (CHF-CHD) leading to kidney injury and/or dysfunction. Acute reno-cardiac syndrome (type 3): acute worsening of kidney function (AKI) leading to heart injury and/or dysfunction. Chronic reno-cardiac syndrome (type 4): chronic kidney disease leading to heart injury, disease, and/or dysfunction. Secondary CRS (type 5): systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney. ", "For mentioning the interaction of cardiovascular and renal diseases the cardiorenal syndrome (CRS) term was introduced, with its classification on 5 types, according to the presence of acute/chronic heart failure and primary/secondary origination of heart and kidney injury.", "For mentioning the interaction of cardiovascular and renal diseases the cardiorenal syndrome (CRS) term was introduced, with its classification on 5 types, according to the presence of acute/chronic heart failure and primary/secondary origination of heart and kidney injury", "The most recent classification recognizes five types of CRS: types I and II originate from heart failure (acute and chronic, respectively), type III and IV from kidney failure (again acute and chronic), while type V originates from a range of systemic diseases", "The most recent classification recognizes five types of CRS: types I and II originate from heart failure (acute and chronic, respectively), type III and IV from kidney failure (again acute and chronic), while type V originates from a range of systemic diseases.", "For mentioning the interaction of cardiovascular and renal diseases the cardiorenal syndrome (CRS) term was introduced, with its classification on 5 types, according to the presence of acute/chronic heart failure and primary/secondary origination of heart and kidney injury.", "Based on the pathophysiological primum movens, the actual classification recognizes five CRS types: in type I and II CRS, the initiating event is heart failure (acute or chronic), while it is kidney failure in type III and IV CRS; type V is linked to systemic diseases.", "An effective classification of CRS in 2008 essentially divides CRS in two main groups, cardiorenal and renocardiac CRS, based on primum movens of disease (cardiac or renal); both cardiorenal and renocardiac CRS are then divided into acute and chronic, according to onset of disease.", "Of particular interest to the critical care specialist are CRS type 1 (acute cardiorenal syndrome) and type 3 (acute renocardiac syndrome).", "At present, the classification of the syndrome includes five types of CRS: types I and II which are strictly related to initial heart failure (both acute and chronic), types III and IV which include initial kidney failure, and type V which includes several systemic diseases.", "The general definition has been expanded into five subtypes: CRS type 1 = acute worsening of heart function (acute heart failure-acute coronary syndrome) leading to kidney injury and/or dysfunction; CRS type 2 = chronic abnormalities in heart function (chronic heart failure-chronic heart disease) leading to kidney injury or dysfunction; CRS type 3 = acute worsening of kidney function (acute kidney injury) leading to heart injury and/or dysfunction; CRS type 4 = chronic kidney disease (chronic kidney disease) leading to heart injury, disease and/or dysfunction; and CRS type 5 = systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney.", "The general definition has been expanded into five subtypes reflecting the primacy of organ dysfunction and the time-frame of the syndrome: CRS type 1 = acute worsening of heart function leading to kidney injury and/or dysfunction; CRS type 2 = chronic abnormalities in heart function leading to kidney injury or dysfunction; CRS type 3 = acute worsening of kidney function leading to heart injury and/or dysfunction; CRS type 4 = chronic kidney disease leading to heart injury, disease and/or dysfunction, and CRS type 5 = systemic conditions leading to simultaneous injury and/or dysfunction of heart and kidney." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21259069", "http://www.ncbi.nlm.nih.gov/pubmed/22493598", "http://www.ncbi.nlm.nih.gov/pubmed/19169027", "http://www.ncbi.nlm.nih.gov/pubmed/24656104", "http://www.ncbi.nlm.nih.gov/pubmed/25254030", "http://www.ncbi.nlm.nih.gov/pubmed/21234092", "http://www.ncbi.nlm.nih.gov/pubmed/26483371", "http://www.ncbi.nlm.nih.gov/pubmed/20037146", "http://www.ncbi.nlm.nih.gov/pubmed/19007588", "http://www.ncbi.nlm.nih.gov/pubmed/26411911", "http://www.ncbi.nlm.nih.gov/pubmed/21647318", "http://www.ncbi.nlm.nih.gov/pubmed/23265597", "http://www.ncbi.nlm.nih.gov/pubmed/22718456", "http://www.ncbi.nlm.nih.gov/pubmed/20653717", "http://www.ncbi.nlm.nih.gov/pubmed/20427991", "http://www.ncbi.nlm.nih.gov/pubmed/24402629", "http://www.ncbi.nlm.nih.gov/pubmed/20427956", "http://www.ncbi.nlm.nih.gov/pubmed/19554920", "http://www.ncbi.nlm.nih.gov/pubmed/23689657", "http://www.ncbi.nlm.nih.gov/pubmed/21921607", "http://www.ncbi.nlm.nih.gov/pubmed/27165977" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002965", "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", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D059347" ]

[ "The discovery of microRNAs (miRNAs) has opened an entire new avenue for drug development. These short (15-22 nucleotides) noncoding RNAs, which function in RNA silencing and posttranscriptional regulation of gene expression, have been shown to critically affect numerous pathways in both development and disease progression." ]

[ "MiRs are small (~23 nt) noncoding RNAs" ]

[ "As novel molecules, microRNAs (miRs) take part in regulating protein-coding gene expression at the post-transcriptional level,", "The discovery of microRNA (miRNA) regulation in tumorigenesis ", "MiRs are small (~23 nt) noncoding RNAs that regulate gene expression by specifically interacting with the 3' untranslated region (UTR) of target gene mRNA to repress translation or enhance mRNA cleavage. ", "The discovery of microRNAs (miRNAs) has opened an entire new avenue for drug development. These short (15-22 nucleotides) noncoding RNAs, which function in RNA silencing and posttranscriptional regulation of gene expression, have been shown to critically affect numerous pathways in both development and disease progression. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27814624", "http://www.ncbi.nlm.nih.gov/pubmed/27924483", "http://www.ncbi.nlm.nih.gov/pubmed/27734397", "http://www.ncbi.nlm.nih.gov/pubmed/27586262" ]

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[ "The resulting circRNA can be translated to generate functional proteins.", "We demonstrate that the circular RNA circ-Foxo3 was highly expressed in non-cancer cells and were associated with cell cycle progression", "yes" ]

[ "no" ]

[ "We demonstrate that the circular RNA circ-Foxo3 was highly expressed in non-cancer cells and were associated with cell cycle progression", "Ectopic expression of circ-Foxo3 repressed cell cycle progression by binding to the cell cycle proteins cyclin-dependent kinase 2 (also known as cell division protein kinase 2 or CDK2) and cyclin-dependent kinase inhibitor 1 (or p21), resulting in the formation of a ternary complex.", "MicroRNAs (miRNAs) are important post-transcriptional regulators of gene expression that act by direct base pairing to target sites within untranslated regions of messenger RNAs.", "We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. This study serves as the first, to our knowledge, functional analysis of a naturally expressed circRNA.", "Numerous circRNAs were specifically expressed at different lactation stages, and only 1,314 circRNAs were detected at both lactation stages.", "A significantly positive correlation was observed for the expression profiles of some circRNAs and their parent genes.", "The resulting circRNA can be translated to generate functional proteins.", "In total, 80 circRNAs were identified from these 4 genes; circRNAs from CSN1S1 had very high abundance, and 3 of them accounted for 36% of all the circRNAs expressed in the mammary gland on lactation d 90.", "A total of 4,804 and 4,048 circRNAs were identified in the cow mammary gland on d 90 and 250 postpartum, respectively, of which only 2,231 circRNAs were co-expressed at both lactation stages, suggesting high stage specificity in the circRNAs.", "Arraystar circRNA Microarray Technology (KANGCHEN, Shanghai, China) was used to analyze the differential expression of circRNAs.", "The aim of study was to identify circRNA expression in articular cartilage and to explore the function of chondrocyte extracellular matrix (ECM)-related circRNAs (circRNA-CER) in cartilage.", "We also validated that P. falciparum produces circRNAs, which is notable given the lack of RNA interference in the organism, and discovered that a highly expressed, five-exon antisense RNA is poised to regulate P. falciparum gametocyte development 1 (PfGDV1), a gene required for early sexual commitment events.", "CircRNA expression pattern and circRNA-miRNA-mRNA network in the pathogenesis of nonalcoholic steatohepatitis.", "CircRNAs are abundantly expressed also in the hematopoietic compartment." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27040791", "http://www.ncbi.nlm.nih.gov/pubmed/25449546", "http://www.ncbi.nlm.nih.gov/pubmed/26204923", "http://www.ncbi.nlm.nih.gov/pubmed/26223268", "http://www.ncbi.nlm.nih.gov/pubmed/26861625", "http://www.ncbi.nlm.nih.gov/pubmed/26442181", "http://www.ncbi.nlm.nih.gov/pubmed/26177684", "http://www.ncbi.nlm.nih.gov/pubmed/26931159", "http://www.ncbi.nlm.nih.gov/pubmed/27606420", "http://www.ncbi.nlm.nih.gov/pubmed/23446346", "http://www.ncbi.nlm.nih.gov/pubmed/26070627", "http://www.ncbi.nlm.nih.gov/pubmed/26472973", "http://www.ncbi.nlm.nih.gov/pubmed/27740630", "http://www.ncbi.nlm.nih.gov/pubmed/27677588" ]

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[ "We suggest that the circles arise from normal splicing processes as a consequence of the unusual genomic structure surrounding the Sry locus in the mouse. While this result does not prove a direct interaction between the two genes, it defines the critical period during which Sry must act to initiate Sertoli cell differentiation. We also attempted to make clear whether the equine SRY gene transcript is expressed in the adult testis, and whether the type of transcript is expressed as linear or circular RNA. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon Recent studies have mainly been devoted to the function of the circular RNA sponge for miR-7 (ciRS-7) and sex-determining region Y (SRY) by targeting microRNA-7 (miR-7) and microRNA-138 (miR-138), respectively However, the characteristics and the critical role of circRNA in co-/post-transcriptional regulation were not well recognized until the \"microRNA sponge\" function of circRNA is discovered", "Sox5, Sox6, and Sox13 constitute the group D of sex-determining region (Sry)-related transcription factors. We previously identified a highly expressed circular RNA (circRNA) in human and mouse brain. Here we show that this circRNA acts as a miR-7 sponge; we term this circular transcript ciRS-7 (circular RNA sponge for miR-7). ciRS-7 contains more than 70 selectively conserved miRNA target sites, and it is highly and widely associated with Argonaute (AGO) proteins in a miR-7-dependent manner. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. These observations support the hypothesis that the Q-rich domain may contribute to the biological function(s) of mouse Sry through a protein-protein interactive role(s).", "Recent studies have mainly been devoted to the function of the circular RNA sponge for miR-7 (ciRS-7) and sex-determining region Y (SRY) by targeting microRNA-7 (miR-7) and microRNA-138 (miR-138), respectively However, the characteristics and the critical role of circRNA in co-/post-transcriptional regulation were not well recognized until the \"microRNA sponge\" function of circRNA is discovered", "We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon Recent studies have mainly been devoted to the function of the circular RNA sponge for miR-7 (ciRS-7) and sex-determining region Y (SRY) by targeting microRNA-7 (miR-7) and microRNA-138 (miR-138), respectively We also attempted to make clear whether the equine SRY gene transcript is expressed in the adult testis, and whether the type of transcript is expressed as linear or circular RNA. However, the characteristics and the critical role of circRNA in co-/post-transcriptional regulation were not well recognized until the \"microRNA sponge\" function of circRNA is discovered We suggest that the circles arise from normal splicing processes as a consequence of the unusual genomic structure surrounding the Sry locus in the mouse. While this result does not prove a direct interaction between the two genes, it defines the critical period during which Sry must act to initiate Sertoli cell differentiation.", "The testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon." ]

[]

[ "We suggest that the circles arise from normal splicing processes as a consequence of the unusual genomic structure surrounding the Sry locus in the mouse.", "While this result does not prove a direct interaction between the two genes, it defines the critical period during which Sry must act to initiate Sertoli cell differentiation.", "We also attempted to make clear whether the equine SRY gene transcript is expressed in the adult testis, and whether the type of transcript is expressed as linear or circular RNA.", "We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon", "Recent studies have mainly been devoted to the function of the circular RNA sponge for miR-7 (ciRS-7) and sex-determining region Y (SRY) by targeting microRNA-7 (miR-7) and microRNA-138 (miR-138), respectively", "However, the characteristics and the critical role of circRNA in co-/post-transcriptional regulation were not well recognized until the \"microRNA sponge\" function of circRNA is discovered", "Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively", "Here we show that this circRNA acts as a miR-7 sponge; we term this circular transcript ciRS-7 (circular RNA sponge for miR-7). ciRS-7 contains more than 70 selectively conserved miRNA target sites, and it is highly and widely associated with Argonaute (AGO) proteins in a miR-7-dependent manner", "Here we show that this circRNA acts as a miR-7 sponge; we term this circular transcript ciRS-7 (circular RNA sponge for miR-7). ciRS-7 contains more than 70 selectively conserved miRNA target sites, and it is highly and widely associated with Argonaute (AGO) proteins in a miR-7-dependent manner.", "We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon.", "Recent studies have mainly been devoted to the function of the circular RNA sponge for miR-7 (ciRS-7) and sex-determining region Y (SRY) by targeting microRNA-7 (miR-7) and microRNA-138 (miR-138), respectively.", "Here we show that this circRNA acts as a miR-7 sponge; we term this circular transcript ciRS-7 (circular RNA sponge for miR-7)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/23446346", "http://www.ncbi.nlm.nih.gov/pubmed/25580223", "http://www.ncbi.nlm.nih.gov/pubmed/10027176", "http://www.ncbi.nlm.nih.gov/pubmed/7600978", "http://www.ncbi.nlm.nih.gov/pubmed/26649774", "http://www.ncbi.nlm.nih.gov/pubmed/7684656", "http://www.ncbi.nlm.nih.gov/pubmed/8718689" ]

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[ "uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.", "Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.", "Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle. Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. ", "Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle. Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure", "Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle." ]

[]

[ "Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.", "Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure", "Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium.", "Uhl's anomaly was first reported by Uhl in 1952 and is characterized by congenital partial or complete absence of right ventricular myocardium.", "Uhls anomaly was first reported by Uhl in 1952 and is characterized by congenital partial or complete absence of right ventricular myocardium" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26054127", "http://www.ncbi.nlm.nih.gov/pubmed/11227837", "http://www.ncbi.nlm.nih.gov/pubmed/26929879", "http://www.ncbi.nlm.nih.gov/pubmed/24784726", "http://www.ncbi.nlm.nih.gov/pubmed/10611917" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006330" ]

[ "Autophagy, a cellular degradation process" ]

[ "yes" ]

[ "Autophagy, a cellular degradation process", "Autophagy, a form of lysosomal degradation capable of eliminating dysfunctional proteins and organelles, is a cellular process associated with homeostasis.", "Autophagy, a programmed process in which cell contents are delivered to lysosomes for degradation, appears to have both tumor-suppressive and tumor-promoting functions; both stimulation and inhibition of autophagy have been reported to induce cancer cell death, and particular genes and proteins have been associated both positively and negatively with autophagy", "Autophagy is a lysosome-mediated catabolic process involving the degradation of intracellular contents (e.g., proteins and organelles) as well as invading microbes (e.g., parasites, bacteria and viruses).", "Autophagy is a cellular process that targets proteins, lipids and organelles to lysosomes for degradation, but it has also been shown to combat infection with various pathogenic bacteria.", "Autophagy, an intracellular degradation process highly conserved from yeast to humans, is viewed as an important defence mechanism to clear intracellular bacteria.", "Autophagy has intracellular anti-viral and anti-bacterial functions, and plays a role in the initiation of innate and adaptive immune system responses to viral and bacterial infections.", "documented abundant autophagy within VZV-infected cells throughout the infectious cycle but also demonstrated that VZV-induced autophagy facilitated VZV glycoprotein biosynthesis and processing.", "Autophagy is a highly conserved process by which cells can recycle organelles and proteins by degrading them in the lysosomes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24906121", "http://www.ncbi.nlm.nih.gov/pubmed/23121192", "http://www.ncbi.nlm.nih.gov/pubmed/27814601", "http://www.ncbi.nlm.nih.gov/pubmed/21946213", "http://www.ncbi.nlm.nih.gov/pubmed/27812870", "http://www.ncbi.nlm.nih.gov/pubmed/21175768", "http://www.ncbi.nlm.nih.gov/pubmed/27027951", "http://www.ncbi.nlm.nih.gov/pubmed/24384599", "http://www.ncbi.nlm.nih.gov/pubmed/24198400" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001343" ]

[ "Long-term aspirin use was associated with a modest but significantly reduced risk for overall cancer, especially gastrointestinal tract tumors. Regular aspirin use may prevent a substantial proportion of colorectal cancers and complement the benefits of screening." ]

[]

[ " Evidence for an association between aspirin or other nonsteroidal antiinflammatory drug (NSAID) use and basal cell carcinoma (BCC) has been inconsistent.", " We report for the first time, in a typical risk US clinical population, a lack of protective association of aspirin for polyps among active smokers. Future prospective studies are recommended to confirm this mitigating effect in order to improve the precision of the growing evidence base about the chemopreventive benefit of aspirin in colorectal cancer.", "The most serious side effect of prolonged aspirin treatment is haemorrhage, especially from the GI tract. This is likely to be less of a problem with chemoprevention at lower doses. One also needs to consider the impact if aspirin resistance, an increasingly recognised clinical entity.", "Overall, our results do support the hypothesis that use of NSAIDs or statins may reduce the odds of developing pancreatic cancer.", "Understanding is growing of the possible mechanisms by which aspirin exerts its anticancer effects. ", "Long-term aspirin use was associated with a modest but significantly reduced risk for overall cancer, especially gastrointestinal tract tumors. Regular aspirin use may prevent a substantial proportion of colorectal cancers and complement the benefits of screening." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26926089", "http://www.ncbi.nlm.nih.gov/pubmed/27817122", "http://www.ncbi.nlm.nih.gov/pubmed/27543497", "http://www.ncbi.nlm.nih.gov/pubmed/26510933", "http://www.ncbi.nlm.nih.gov/pubmed/26712086", "http://www.ncbi.nlm.nih.gov/pubmed/27289249", "http://www.ncbi.nlm.nih.gov/pubmed/26433247", "http://www.ncbi.nlm.nih.gov/pubmed/27268656", "http://www.ncbi.nlm.nih.gov/pubmed/26940135" ]

[]

[]

[ "The components of the pre-replication complex (pre-RC) in eukaryotes are:\n1) Cdc6/Cdc18, \n2) MCM, \n3) ORC1-6,\n4) Cdt1 and\n5) Sap1/Gi." ]

[ "Cdc6/Cdc18", "MCM", "ORC1-6", "Cdt1", "Sap1/Gi" ]

[ " The first step of replication initiation is the assembly of pre-replication complex (pre-RC). Since 1973, four proteins, Cdc6/Cdc18, MCM, ORC and Cdt1, have been extensively studied and proved to be pre-RC components. Recently, a novel pre-RC component called Sap1/Girdin was identified. Sap1/Girdin is required for loading Cdc18/Cdc6 to origins for pre-RC assembly in the fission yeast and human cells, respectively. ", "In eukaryotes, the pre-replication complex is composed of the Origin Recognition Complex (ORC), Cdc6 and the MCM replicative helicase in conjunction with Cdt1. Eukaryotic ORC is considered to be composed of six subunits, named Orc1-6, and monomeric Cdc6 is closely related in sequence to Orc1.", "The sequencing of the Plasmodium genome has also revealed the apparent absence of many key components (e.g. Cdt1, DDK and Cdc45) of the eukaryotic cell cycle machinery that are responsible for the formation of the pre-replication complex (pre-RC). We have characterized the Plasmodium falciparum minichromosome maintenance complex (MCM) that plays a key role in the transition of pre-RC to the RC. Similar to other eukaryotes, the Plasmodium genome encodes six MCM subunits. ", "During pre-replication complex (pre-RC) formation, origin recognition complex (ORC), Cdc6, and Cdt1 cooperatively load the 6-subunit mini chromosome maintenance (MCM2-7) complex onto DNA.", "ORC1 is an essential component of the pre-replicative complex (pre-RC) that licenses eukaryote DNA replication origins.", "In higher eukaryotes, the pre-replication complex (pre-RC) component Cdt1 is the major regulator in licensing control for DNA replication.", "The sequencing of the Plasmodium genome has also revealed the apparent absence of many key components (e.g. Cdt1, DDK and Cdc45) of the eukaryotic cell cycle machinery that are responsible for the formation of the pre-replication complex (pre-RC)", "We examined the mRNA expression of the components of pre-replication complex (Pre-RC), CDC6, CDT1, and MCM2-7", "Replication initiation is a multi-step process involving many factors including ORC, Cdt1p, Mcm2-7p and other proteins that bind to replication origins to form a pre-replicative complex (pre-RC)", "The sequencing of the Plasmodium genome has also revealed the apparent absence of many key components (e.g. Cdt1, DDK and Cdc45) of the eukaryotic cell cycle machinery that are responsible for the formation of the pre-replication complex (pre-RC).", "Different components of the ORC complex and Cdc6 stimulated prereplicative complex (pre-RC) formation and replication initiation when fused to the GAL4 DNA-binding domain and recruited to plasmid DNA containing a tandem array of GAL4-binding sites.", "Cdt1, DDK and Cdc45) of the eukaryotic cell cycle machinery that are responsible for the formation of the pre-replication complex (pre-RC).", "Recently, a novel pre-RC component called Sap1/Girdin was identified.", "MCM2-7 is a key component of the prereplicative complex (pre-RC), which is loaded onto chromatin by the concerted action of origin recognition complex, Cdc6, and Cdt1.", "The pre-replicative complex (pre-RC) is formed at all potential origins of replication through the action of the origin recognition complex (ORC), Cdc6, Cdt1, and the Mcm2-7 complex." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22421151", "http://www.ncbi.nlm.nih.gov/pubmed/24699916", "http://www.ncbi.nlm.nih.gov/pubmed/15065651", "http://www.ncbi.nlm.nih.gov/pubmed/22412905", "http://www.ncbi.nlm.nih.gov/pubmed/22645314", "http://www.ncbi.nlm.nih.gov/pubmed/16257456", "http://www.ncbi.nlm.nih.gov/pubmed/20705581", "http://www.ncbi.nlm.nih.gov/pubmed/22134836", "http://www.ncbi.nlm.nih.gov/pubmed/23720738", "http://www.ncbi.nlm.nih.gov/pubmed/20097898", "http://www.ncbi.nlm.nih.gov/pubmed/19910535", "http://www.ncbi.nlm.nih.gov/pubmed/22801552", "http://www.ncbi.nlm.nih.gov/pubmed/25374915", "http://www.ncbi.nlm.nih.gov/pubmed/15201046", "http://www.ncbi.nlm.nih.gov/pubmed/23093411", "http://www.ncbi.nlm.nih.gov/pubmed/19531585", "http://www.ncbi.nlm.nih.gov/pubmed/16322558", "http://www.ncbi.nlm.nih.gov/pubmed/19285403", "http://www.ncbi.nlm.nih.gov/pubmed/22250202", "http://www.ncbi.nlm.nih.gov/pubmed/9159120" ]

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[ "http://amigo.geneontology.org/amigo/term/GO:0036387", "http://amigo.geneontology.org/amigo/term/GO:0036388", "http://amigo.geneontology.org/amigo/term/GO:1902299", "http://amigo.geneontology.org/amigo/term/GO:1902985", "http://amigo.geneontology.org/amigo/term/GO:0006267", "http://amigo.geneontology.org/amigo/term/GO:0005656" ]

[ "Hypophosphatemic rickets are transmitted with:\n1) autosomal recessive\n2) autosomal dominant\n3) X-linked recessive and\n4) X-linked dominant inheritance." ]

[ "autosomal recessive", "autosomal dominant", "X-linked recessive", "X-linked dominant" ]

[ "Among 35 candidate genes in this region, the dentin matrix protein 1 gene (DMP1) was sequenced to reveal a nonsense mutation 250C/T on exon 6. ", "Previous research has shown that mutations in the DMP1 gene are responsible for autosomal recessive hypophosphatemic rickets in humans.", "A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets.", "Autosomal recessive hypophosphatemic rickets (ARHR) is an extremely rare disorder of autosomal recessive inheritance, characterized by hypophosphatemia resulting from renal phosphate wasting. ", "Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.", "X-linked hypophosphatemia (XLH) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, hypophosphatemia, and defective bone mineralization.", "Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets.", "We previously demonstrated that the mutations Met1Val (M1V) and the deletion of nucleotides 1484-1490 (1484-1490del) in Dentin matrix protein-1 (DMP1) cause the novel disorder autosomal recessive hypophosphatemic rickets (ARHR), which is associated with elevated fibroblast growth factor-23 (FGF23).", "First, we examined a kindred with a severe hypophosphatemic rickets phenotype and recessive inheritance. ", "Discordance for X-linked hypophosphataemic rickets in identical twin girls.", "We report monozygotic twin girls with a family history consistent with X-linked hypophosphataemic rickets (XLH). ", "Microsatellite analysis was performed to confirm monozygosity and bi-parental inheritance of the X chromosome. ", "Hypophosphatemia due to isolated renal phosphate wasting is a genetically heterogeneous disease. Two new genes linked to two different forms of hereditary hypophosphatemias have recently been described. Autosomal recessive form of hypophosphatemic rickets was mapped to chromosome 4q21 and identified homozygous mutations in dentin matrix protein 1 (DMP1) gene, which encodes a non-collagenous bone matrix protein.", "Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait.", "Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant disorder (XLH), although autosomal dominant forms have also been observed. Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively.", "Direct nucleotide sequencing of FGF23 and PHEX revealed that the elder daughter was heterozygous for an R567X mutation in PHEX, rather than FGF23, suggesting that the genetic transmission occurred as an X-linked dominant trait. ", "Somatic and germline mosaicism for an X-linked dominant mutation in PHEX may mimic autosomal dominant inheritance.", "We report two cases of x-linked dominant hypophosphatemic rickets involving a man and his daughter. ", "X-linked hypophosphatemic rickets--a report of 2 cases and review of literature.", "The study of this family tree strongly suggests an x-linked dominant inheritance.", "Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.", "We performed clinical and biochemical evaluations of individuals from a large kindred with autosomal dominant hypophosphatemic rickets/osteomalacia.", " In conclusion, autosomal dominant hypophosphatemic rickets/osteomalacia is an inherited disorder of isolated renal phosphate wasting. ", "[Scriver type autosomal hypophosphatemic rachitis: a family case].", "A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. ", "This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. ", "The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets.", "First, we examined a kindred with a severe hypophosphatemic rickets phenotype and recessive inheritance.", "A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported.", "Autosomal recessive hypophosphatemic rickets (ARHR) is an extremely rare disorder of autosomal recessive inheritance, characterized by hypophosphatemia resulting from renal phosphate wasting.", "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred.", "Autosomal recessive hypophosphatemic rickets (ARHR) is an extremely rare disorder of autosomal recessive inheritance, characterized by hypophosphatemia resulting from renal phosphate wasting", "A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported", "The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets", "First, we examined a kindred with a severe hypophosphatemic rickets phenotype and recessive inheritance", "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large consanguineous Bedouin kindred", "Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively.The objective of the study was to describe the molecular genetic findings in a family affected by hypophosphatemic rickets with presumed autosomal dominant inheritance.We studied a family in which the father and the elder of his two daughters, but not the second daughter, were affected by hypophosphatemic rickets", "Hereditary hypophosphatemic rickets with hypercalciuria is another rare disorder of autosomal recessive inheritance", "First, we examined a kindred with a severe hypophosphatemic rickets phenotype and recessive inheritance.", "Autosomal recessive form of hypophosphatemic rickets was mapped to chromosome 4q21 and identified homozygous mutations in dentin matrix protein 1 (DMP1) gene, which encodes a non-collagenous bone matrix protein.", "In addition, such CLCN5 mutations that would result in a functional loss have also been demonstrated in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis, and an Italian kindred with X-linked recessive hypophosphatemic rickets (XLRH) and hypercalciuria.", "Inactivating mutations of phosphate-regulating gene with homologies to endopeptidases on the X chromosome, dentin matrix acidic phosphoprotein 1, and ectonucleotide pyrophosphatase/phosphodiesterase 1 are associated with X-linked hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets 1, and autosomal recessive hypophosphatemic rickets 2, respectively.", "The objective of the study was to describe the molecular genetic findings in a family affected by hypophosphatemic rickets with presumed autosomal dominant inheritance.", "The HHRH is transmitted by autosomal recessive inheritance and is an extremely rare form of hypophosphatemic rickets.", "X-linked familial hypophosphatemic rickets (X.L.F.H.R.) is one of the D resistant rickets.", "Iron deficiency may affect autosomal dominant hypophosphatemic rickets phenotype by regulating FGF23 production.Current treatment with activated vitamin D metabolites and oral inorganic phosphate salts may partially correct skeletal lesions and linear growth in patients with hypophosphatemic rickets.", "[X-linked familial hypophosphatemic rickets report of six cases (author's transl)]." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17635744", "http://www.ncbi.nlm.nih.gov/pubmed/11200035", "http://www.ncbi.nlm.nih.gov/pubmed/19258716", "http://www.ncbi.nlm.nih.gov/pubmed/20213538", "http://www.ncbi.nlm.nih.gov/pubmed/19007919", "http://www.ncbi.nlm.nih.gov/pubmed/22806288", "http://www.ncbi.nlm.nih.gov/pubmed/23108197", "http://www.ncbi.nlm.nih.gov/pubmed/10720930", "http://www.ncbi.nlm.nih.gov/pubmed/20578943", "http://www.ncbi.nlm.nih.gov/pubmed/2832821", "http://www.ncbi.nlm.nih.gov/pubmed/21747952", "http://www.ncbi.nlm.nih.gov/pubmed/16358214", "http://www.ncbi.nlm.nih.gov/pubmed/443639", "http://www.ncbi.nlm.nih.gov/pubmed/9024275", "http://www.ncbi.nlm.nih.gov/pubmed/16303832" ]

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[]

[ "The well-known cultivated species Agaricus bisporus is safe to eat while Amanita Phalloides is poisonous." ]

[ "Amanita phalloides" ]

[ "Seventeen edible mushrooms commercially available in Korea were analysed for their umami taste compounds (5'-nucleotides: AMP, GMP, IMP, UMP, XMP; free amino acids: aspartic, glutamic acid) and subjected to human sensory evaluation and electronic tongue measurements. Amanita virgineoides featured the highest total 5'-nucleotide content (36.9 ± 1.50 mg/g), while monosodium glutamate-like components (42.4 ± 6.90 mg/g) were highest in Agaricus", "liver transplantation improves patients' short-term post liver transplantation survival in Amanita phalloides poisoning" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27596390", "http://www.ncbi.nlm.nih.gov/pubmed/26304449", "http://www.ncbi.nlm.nih.gov/pubmed/27389675" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000363", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000364", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010947", "http://www.uniprot.org/uniprot/ABL_AGABI", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000545", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009145" ]

[ "A five gene type I IFN signature was assessed in these subjects to identify subpopulations showing both activation and concordance of the type I IFN pathway in the peripheral blood and disease-affected tissues of each disease and to correlate activation of this pathway in the WB with clinical measurements.R Baseline disease activity measurements correlated with a type I IFN gene signature in the WB of subjects with SLE, PM and SSc, as did various serum autoantibody levels in subjects with SLE and DM.", "Baseline disease activity measurements correlated with a type I IFN gene signature in the WB of subjects. The type I IFN signature negatively predicts the clinical response to rituximab treatment in patients with RA.", "a five gene type i ifn signature was assessed in these subjects to identify subpopulations showing both activation and concordance of the type i ifn pathway in the peripheral blood and disease-affected tissues of each disease and to correlate activation of this pathway in the wb with clinical measurements.", "A five gene type I IFN signature was assessed in these subjects to identify subpopulations showing both activation and concordance of the type I IFN pathway in the peripheral blood and disease-affected tissues of each disease and to correlate activation of this pathway in the WB with clinical measurements.R" ]

[ "Interferon signature", "IFN signature" ]

[ "A five gene type I IFN signature was assessed in these subjects to identify subpopulations showing both activation and concordance of the type I IFN pathway in the peripheral blood and disease-affected tissues of each disease and to correlate activation of this pathway in the WB with clinical measurements.R", "Baseline disease activity measurements correlated with a type I IFN gene signature in the WB of subjects with SLE, PM and SSc, as did various serum autoantibody levels in subjects with SLE and DM. This signature was also well correlated between disease-affected tissue and WB in subjects with SLE, DM, PM and SSc.", "We identified an arsenic exposure related 51-gene signature at PND1 and PND70 with several hubs of interaction (Hspa8, IgM and Hnf4a).", "A CD4 T cell gene signature for early rheumatoid arthritis implicates interleukin 6-mediated STAT3 signalling, particularly in anti-citrullinated peptide antibody-negative disease", "A 12-gene transcriptional 'signature' identified RA patients in the training cohort and predicted the subsequent development of RA among UA patients in the validation cohort (sensitivity 68%, specificity 70%). ", "The involvement of HIF isoforms in generating the angiogenic signature of RA FLS stimulated with hypoxia and/or cytokines was investigated using a DNA-binding assay and RNA interference.", "The objective of our study was to characterise the angiogenic gene signature of RA fibroblast-like synoviocytes (FLS) in response to hypoxia, as well as Th1 and T-helper cell 2 (Th2) cytokines, and in particular to dissect out effects of combined hypoxia and cytokines on hypoxia inducible transcription factors (HIFs) and angiogenesis.", "Multiple folate metabolism-related genes were consistently and significantly altered between the 3 groups in both cohorts. Concurrent with evidence of an immune-activation gene signature in MTX-naive RA patients, significant up-regulation of the folate-metabolizing enzymes γ-glutamyl hydrolase and dihydrofolate reductase, as well as the MTX/folate efflux transporters ABCC2 and ABCC5, was observed in the MTX-naive RA group compared to healthy controls.", "We used microarray profiling of peripheral blood mononuclear cells (PBMCs) in 30 RA patients to assess the effect of different biologic agent (biologics) treatments and to quantify the degree of a type-I interferon (IFN) signature in these patients. ", "The 256 genes identified were used to derive a gene signature score by averaging their log expression within each patient.", " IL-17A inhibitors produced rapid down-regulation of the psoriasis gene signature and high clinical response rates in patients with moderate-to-severe plaque psoriasis, consistent with an important role for IL-17A in psoriasis pathogenesis. ", "We observed that baseline synovial myeloid, but not lymphoid, gene signature expression was higher in patients with good compared with poor European league against rheumatism (EULAR) clinical response to anti-TNFα therapy at week 16 (P =0.011). ", "Flow cytometry and gene profiling indicated that RA-SF macrophages express pro-inflammatory polarization markers (MMP12, EGLN3, CCR2), lack expression of markers associated with homeostatic and anti-inflammatory polarization (IGF1, HTR2B) and exhibit a transcriptomic profile that resembles the activin A-dependent gene signature of pro-inflammatory in vitro-generated macrophages.", "Gene expression analyses showed a greater prevalence of significantly upregulated genes in HCs with negative ANA values than in those with significant ANA positivity. Genes upregulated in high ANA HCs included a celiac disease autoantigen and some components of the Type I interferon (IFN) gene signature.", "We therefore initiated this study to identify signatures that would be of utility in studying rheumatoid arthritis (RA).We used microarray profiling of peripheral blood mononuclear cells (PBMCs) in 30 RA patients to assess the effect of different biologic agent (biologics) treatments and to quantify the degree of a type-I interferon (IFN) signature in these patients", "Gene expression analysis of peripheral blood cells from patients with rheumatoid arthritis and multiple sclerosis demonstrate an interferon signature similar to but less intense than that seen in patients with lupus.", "To analyze the relationship between the type I interferon (IFN) signature and clinical response to rituximab in rheumatoid arthritis (RA) patients.Twenty RA patients were treated with rituximab (cohort 1).", "To validate the presence and demonstrate the clinical value of the type I interferon (IFN)-signature during arthritis development.In 115 seropositive arthralgia patients who were followed for the development of arthritis (Amsterdam Reade cohort), and 25 presymptomatic individuals who developed rheumatoid arthritis (RA) later, and 45 population-based controls (Northern Sweden cohort), the expression levels of 7 type I IFN response genes were determined with multiplex qPCR and an IFN-score was calculated.", "Patients with systemic lupus erythematosus, Sjögren's syndrome, dermatomyositis, psoriasis, and a fraction of patients with rheumatoid arthritis display a specific expression pattern of interferon-dependent genes in their leukocytes, termed the interferon signature.", "More recently, large-scale differential gene expression studies performed on selected tissues from patients with autoimmune disorders, have led to the identification of gene signatures associated with the activation of specific pathways in these diseases (e.g. interferon signature in lupus).", "Relationship between the type I interferon signature and the response to rituximab in rheumatoid arthritis patients.", "Importance of correlation between gene expression levels: application to the type I interferon signature in rheumatoid arthritis.", "To analyze the relationship between the type I interferon (IFN) signature and clinical response to rituximab in rheumatoid arthritis (RA) patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25167216", "http://www.ncbi.nlm.nih.gov/pubmed/23819583", "http://www.ncbi.nlm.nih.gov/pubmed/23897011", "http://www.ncbi.nlm.nih.gov/pubmed/20722020", "http://www.ncbi.nlm.nih.gov/pubmed/22532634", "http://www.ncbi.nlm.nih.gov/pubmed/21366908", "http://www.ncbi.nlm.nih.gov/pubmed/22872428", "http://www.ncbi.nlm.nih.gov/pubmed/18781962", "http://www.ncbi.nlm.nih.gov/pubmed/20392289", "http://www.ncbi.nlm.nih.gov/pubmed/25504080", "http://www.ncbi.nlm.nih.gov/pubmed/23434571", "http://www.ncbi.nlm.nih.gov/pubmed/25319955", "http://www.ncbi.nlm.nih.gov/pubmed/22866899", "http://www.ncbi.nlm.nih.gov/pubmed/22719926", "http://www.ncbi.nlm.nih.gov/pubmed/22043277", "http://www.ncbi.nlm.nih.gov/pubmed/21303493", "http://www.ncbi.nlm.nih.gov/pubmed/21803750" ]

[]

[]

[ "The most widely used software belong to the family of the Burrows-Wheeler Aligner (BWA) and its variants for local alignment BWASW, map reduce BWASW-PMR and multi-threaded implementation BWA-MT. Other approaches include Bowtie, SOAP2, BWBBLE, SOAP2 and FANSe2." ]

[ "Bowtie", "Burrows-Wheeler Alignment Tool", "BWA", "SOAP2", "Burrows-Wheeler Aligner's Smith-Waterman Alignment", "BWA-SW", "TotalReCaller", "BWBBLE", "FANSe2", "Burrows-Wheeler Aligner's Smith-Waterman Alignment Map Reduce", "BWASW-PMR", "Burrows-Wheeler Aligner Multi-Thread", "BWA-MT" ]

[ "For the human genome, Burrows-Wheeler indexing allows Bowtie to align more than 25 million reads per CPU hour with a memory footprint of approximately 1.3 gigabytes. Bowtie extends previous Burrows-Wheeler techniques with a novel quality-aware backtracking algorithm that permits mismatches.", "We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows-Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.", "SOAP2 is a significantly improved version of the short oligonucleotide alignment program that both reduces computer memory usage and increases alignment speed at an unprecedented rate. We used a Burrows Wheeler Transformation (BWT) compression index to substitute the seed strategy for indexing the reference sequence in the main memory.", "We designed and implemented a new algorithm, Burrows-Wheeler Aligner's Smith-Waterman Alignment (BWA-SW), to align long sequences up to 1 Mb against a large sequence database (e.g. the human genome) with a few gigabytes of memory.", "Here, we propose a new base-calling algorithm, TotalReCaller, to achieve improved performance. A linear error model for the raw intensity data and Burrows-Wheeler transform (BWT) based alignment are combined utilizing a Bayesian score function, which is then globally optimized over all possible genomic locations using an efficient branch-and-bound approach.", "To tackle this problem, a new alignment tool BWBBLE is introduced in this article. We (i) introduce a new compressed representation of a collection of genomes, which explicitly tackles the genomic variation observed at every position, and (ii) design a new alignment algorithm based on the Burrows-Wheeler transform that maps short reads from a newly sequenced genome to an arbitrary collection of two or more (up to millions of) genomes with high accuracy and no inherent bias to one specific genome.", "Seed-based algorithms are generally slow but robust, while Burrows-Wheeler Transform (BWT) based algorithms are fast but less robust. To have both advantages, we developed an algorithm FANSe2 with iterative mapping strategy based on the statistics of real-world sequencing error distribution to substantially accelerate the mapping without compromising the accuracy.", "Therefore, in this paper, we introduce Burrows-Wheeler Aligner's Smith-Waterman Alignment on Parallel MapReduce (BWASW-PMR) cloud platform for long sequence alignment.", "In this paper, we propose a BWA-MT tool, evolved from BWA but supporting multi-thread computation, designed to fully utilize the underlying multi-core architecture of computing resources. By using multi-thread computation, BWA-MT can significantly shorten the time needed to generate an alignment for single-end read sequences.", "The speed of MAQ is also a concern when the alignment is scaled up to the resequencing of hundreds of individuals.We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows-Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps", "Although the Burrows-Wheeler Aligner (BWA) tool is one of the most widely used open-source software tools to align read sequences, it is still limited in that it does not fully support multi-thread mechanisms during the alignment steps", "We implemented Burrows-Wheeler Alignment tool (BWA), a new read alignment package that is based on backward search with Burrows-Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.", "We designed and implemented a new algorithm, Burrows-Wheeler Aligner's Smith-Waterman Alignment (BWA-SW), to align long sequences up to 1 Mb against a large sequence database (e.g.", "Although the Burrows-Wheeler Aligner (BWA) tool is one of the most widely used open-source software tools to align read sequences, it is still limited in that it does not fully support multi-thread mechanisms during the alignment steps." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21724593", "http://www.ncbi.nlm.nih.gov/pubmed/26405948", "http://www.ncbi.nlm.nih.gov/pubmed/19261174", "http://www.ncbi.nlm.nih.gov/pubmed/19451168", "http://www.ncbi.nlm.nih.gov/pubmed/24743329", "http://www.ncbi.nlm.nih.gov/pubmed/23813006", "http://www.ncbi.nlm.nih.gov/pubmed/26839887", "http://www.ncbi.nlm.nih.gov/pubmed/19497933", "http://www.ncbi.nlm.nih.gov/pubmed/20080505" ]

[]

[]

[ "Yes, intraoperative radiotherapy (IORT) is being used for treatment of glioblastoma. IORT combined with extensive tumor removal has an acceptable toxicity in previously irradiated patients and can be effective for selected recurrent malignant brain tumors." ]

[ "no" ]

[ " 1) Intraoperative radiotherapy ( IOR , 1,000-2,000 rad) was applied in 13 cases; the 2-year survival was 41.6%. ", "The median survival time after IORT was 12 months for 9 patients with glioblastoma or anaplastic astrocytoma, while it was 51 months for 8 patients with less infiltrative tumors (ependymoma, anaplastic ependymoma, and anaplastic oligodendroglioma). ", "It is concluded that IORT combined with extensive tumor removal has an acceptable toxicity in previously irradiated patients and can be effective for selected recurrent malignant brain tumors.", "CONCLUSIONS: The results of this study indicate that IORT can contribute to successful tumor treatment while neither increasing peri-operative morbidity nor subacute sequelae.", "This review compiles preclinical and clinical evidence for a dedicated treatment of both residual cancer cells and regional microenvironment using intraoperative radiotherapy (IORT).", " Intraoperative radiotherapy (IORT) is a pragmatic and effective approach to sterilize the margins from persistent tumor cells, abrogate post-injury proliferative stimuli and to bridge the therapeutic gap between surgery and radiochemotherapy. ", "[Surgical treatment and radiation therapy for glioblastoma multiforme, with special reference to intraoperative radiotherapy].", "Rationale for intraoperative radiotherapy in glioblastoma.", "Intraoperative radiotherapy (IORT) was performed in 20 of 36 patients with glioma; 11 glioblastomas, 7 malignant astrocytomas, 2 benign astrocytomas.", "[Surgical treatment and radiation therapy for glioblastoma multiforme, with special reference to intraoperative radiotherapy]", "INTRAGO: intraoperative radiotherapy in glioblastoma multiforme—a phase I/II dose escalation study", "Intraoperative cobalt-60 treatment of glioblastoma multiforme", "An intraoperative remote afterloading endocurietherapy (ECT) technique with high-activity 60cobalt (60Co) for the treatment of glioblastoma multiforme (GM) is described", "[Surgical treatment and radiation therapy for glioblastoma multiforme, with special reference to intraoperative radiotherapy].", "Rationale for intraoperative radiotherapy in glioblastoma.", "Intraoperative cobalt-60 treatment of glioblastoma multiforme.", "INTRAGO: intraoperative radiotherapy in glioblastoma multiforme—a phase I/II dose escalation study.", "Intraoperative remote afterloading endocurietherapy with high-activity 60cobalt for treatment of glioblastoma multiforme.", "Combining intraoperative carmustine wafers and Stupp regimen in multimodal first-line treatment of primary glioblastomas.", "The intraoperative use of carmustine wafers in combination with Stupp regimen is a viable first-line treatment option of glioblastomas.", "An intraoperative remote afterloading endocurietherapy (ECT) technique with high-activity 60cobalt (60Co) for the treatment of glioblastoma multiforme (GM) is described.", "The study investigated if intraoperative use of carmustine wafers, particularly in combination with Stupp regimen, is a viable and safe first-line treatment option of glioblastomas." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25535398", "http://www.ncbi.nlm.nih.gov/pubmed/8092110", "http://www.ncbi.nlm.nih.gov/pubmed/6328061", "http://www.ncbi.nlm.nih.gov/pubmed/7623073", "http://www.ncbi.nlm.nih.gov/pubmed/26824195", "http://www.ncbi.nlm.nih.gov/pubmed/3014858", "http://www.ncbi.nlm.nih.gov/pubmed/2852827", "http://www.ncbi.nlm.nih.gov/pubmed/25724425", "http://www.ncbi.nlm.nih.gov/pubmed/16044217", "http://www.ncbi.nlm.nih.gov/pubmed/7709332" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005909", "http://www.disease-ontology.org/api/metadata/DOID:3068", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011878", "http://www.disease-ontology.org/api/metadata/DOID:3073", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D007430" ]

[ "Pse-in-One is a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences. It can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences. Particularly, it can also generate those feature vectors with the properties defined by users themselves. These feature vectors can be easily combined with machine-learning algorithms to develop computational predictors and analysis methods for various tasks in bioinformatics and system biology." ]

[ "Pse-in-One" ]

[ "Pse-in-One: a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences.", "In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http://bioinformatics.hitsz.edu.cn/Pse-in-One/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences. Particularly, it can also generate those feature vectors with the properties defined by users themselves. These feature vectors can be easily combined with machine-learning algorithms to develop computational predictors and analysis methods for various tasks in bioinformatics and system biology. It is anticipated that the Pse-in-One web server will become a very useful tool in computational proteomics, genomics, as well as biological sequence analysis.", "In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http://bioinformatics.hitsz.edu.cn/Pse-in-One/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences.", "Pse-in-One: a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences", "In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http://bioinformatics.hitsz.edu.cn/Pse-in-One/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences", "In this article, with a much larger number of built-in properties, we are to propose a much more flexible web server called Pse-in-One (http://bioinformatics.hitsz.edu.cn/Pse-in-One/), which can, through its 28 different modes, generate nearly all the possible feature vectors for DNA, RNA and protein sequences.", "Pse-in-One: a web server for generating various modes of pseudo components of DNA, RNA, and protein sequences." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25958395" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0002518", "o": "http://linkedlifedata.com/resource/umls/label/A18664122" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18664122", "o": "protein sequences" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0002518", "o": "amino acid sequence" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0002518", "o": "http://linkedlifedata.com/resource/umls/label/A18589792" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18589792", "o": "amino acid sequence" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004247", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D030561", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000595", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D021901", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017422", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017421", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012313", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020539" ]

[ "The occurrence of tuberculosis (TB) in patients treated with immunosuppressive drugs (ISD) is an old problem that has been highlighted by cases occurring in patients using anti-TNFalpha drugs." ]

[]

[ "The use of TNFalpha blockers is associated with reactivation of tuberculosis (TB)", "We present two patients with inflammatory bowel disease who, despite negative tuberculosis screening, developed a de novo tuberculosis infection after the start of anti tumor necrosis factor alpha treatment.", "To compare the performance of two interferon gamma release assays (IGRAs) and conventional screening tests in patients with inflammatory arthritis undergoing screening for latent tuberculosis infection (LTBI) before treatment with anti-tumour necrosis factor alpha (anti-TNFalpha) compounds.", "The occurrence of tuberculosis (TB) in patients treated with immunosuppressive drugs (ISD) is an old problem that has been highlighted by cases occurring in patients using anti-TNFalpha drugs.", "TNFalpha plays a pivotal role not only in the inflammatory process but also in the normal response against pathogens and therefore, interfering with this cytokine may increase the risk of infection." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19176545", "http://www.ncbi.nlm.nih.gov/pubmed/25095612", "http://www.ncbi.nlm.nih.gov/pubmed/24295645", "http://www.ncbi.nlm.nih.gov/pubmed/19075965", "http://www.ncbi.nlm.nih.gov/pubmed/19107015" ]

[]

[]

[ "Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Diamond-Blackfan anemia (DBA) is a rare congenital disease affecting erythroid precursor differentiation. Diamond-Blackfan anemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation and physical malformations.", "Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients.", "In 25% of patients with Diamond-Blackfan anaemia 19q13 gene mutation was detected, and recent findings suggest another gene located on 8p23.3-p22 chromosome. Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. We also report the prevalence of RPS 19 mutations in the Italian DBA population, as shown by an analysis of 56 patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. ", "blackfan anemia (dba) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. . genes encoding ribosomal proteins have been associated to dba: after rps19 , mutations in genes rps24 and rps17 were recently identified in a fraction of the patients. . 25% of patients with diamond-blackfan anaemia 19q13 gene mutation was detected , and recent findings suggest another gene located on 8p23.3-p22 chromosome. . transgenic mouse model demonstrates a dominant negative effect of a point mutation in the rps19 gene associated with diamond-blackfan anemia . also report the prevalence of rps 19 mutations in the italian dba population , as shown by an analysis of 56 patients. . in the gene encoding ribosomal protein (rp) s19 have recently been found in 25% of patients with either the dominant or the sporadic form. . ", "Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes.", "three genes encoding ribosomal proteins have been associated to dba: after rps19, mutations in genes rps24 and rps17 were recently identified in a fraction of the patients.", "Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients. Currently two genes are associated with the DBA phenotype--the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in approximately 1.4% of DBA patients. As a proof of concept, we designed a multiplex ligation-dependent probe amplification assay targeted to screen the six genes that are most frequently mutated in Diamond-Blackfan anemia patients: RPS17, RPS19, RPS26, RPL5, RPL11, and RPL35A. We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies. In this study, nine Korean DBA patients were screened for mutations in eight known DBA genes (RPS19, RPS24, RPS17, RPS10, RPS26, RPL35A, RPL5 and RPL11) using the direct sequencing method.", "Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder." ]

[ "ribosomal protein genes" ]

[ "Mutations in the gene encoding ribosomal protein (RP) S19 have recently been found in 25% of patients with either the dominant or the sporadic form.", "We also report the prevalence of RPS 19 mutations in the Italian DBA population, as shown by an analysis of 56 patients.", "Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.", "Three genes encoding ribosomal proteins have been associated to DBA: after RPS19, mutations in genes RPS24 and RPS17 were recently identified in a fraction of the patients.", "A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia", "Diamond Blackfan anemia (DBA) is an inherited erythroblastopenia associated with mutations in at least 8 different ribosomal protein genes.", "Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients.", "Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis.", "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.", "A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.", "Recently, new genes, all encoding ribosomal proteins, have been found to be mutated in Diamond-Blackfan anemia, adding further support to the concept that ribosome biogenesis plays an important role in regulating erythropoiesis.", "More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies.", "High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.", "The gene encoding ribosomal protein S19 (RPS19) has been shown to be mutated in 25% of the patients affected by Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia", "These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins", "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia", "The combination of sequencing and multiplex ligation-dependent probe amplification analysis of these six genes allows the genetic characterization of approximately 65% of patients, showing that Diamond-Blackfan anemia is indisputably a ribosomopathy", "Recently, new genes, all encoding ribosomal proteins, have been found to be mutated in Diamond-Blackfan anemia, adding further support to the concept that ribosome biogenesis plays an important role in regulating erythropoiesis", "Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia", "Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations", "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia", "Small ribosomal subunit genes RPS19, RPS24, and RPS17 are mutated in approximately one-third of patients.", "Currently two genes are associated with the DBA phenotype--the ribosomal protein (RP) S19 mutated in 25% of DBA patients and RPS24 mutated in approximately 1.4% of DBA patients.", "DBA patients exhibit abnormal pre-rRNA maturation patterns and the majority bear mutations in one of several ribosomal protein genes that encode structural components of the ribosome essential for the correct assembly of the ribosomal subunits.", "The combination of sequencing and multiplex ligation-dependent probe amplification analysis of these six genes allows the genetic characterization of approximately 65% of patients, showing that Diamond-Blackfan anemia is indisputably a ribosomopathy.", "Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.", "Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.", "A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.", "In total, 12 (27%) of the Japanese Diamond-Blackfan anemia patients had mutations in ribosomal protein genes.", "Ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a rare congenital hypoplastic anemia.", "Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.", "Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.", "Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.", "High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/11112378", "http://www.ncbi.nlm.nih.gov/pubmed/20606162", "http://www.ncbi.nlm.nih.gov/pubmed/18768533", "http://www.ncbi.nlm.nih.gov/pubmed/20960466", "http://www.ncbi.nlm.nih.gov/pubmed/22689679", "http://www.ncbi.nlm.nih.gov/pubmed/12393682", "http://www.ncbi.nlm.nih.gov/pubmed/12586610", "http://www.ncbi.nlm.nih.gov/pubmed/18230666", "http://www.ncbi.nlm.nih.gov/pubmed/19191325", "http://www.ncbi.nlm.nih.gov/pubmed/17647292", "http://www.ncbi.nlm.nih.gov/pubmed/20378560", "http://www.ncbi.nlm.nih.gov/pubmed/18781615", "http://www.ncbi.nlm.nih.gov/pubmed/17186470", "http://www.ncbi.nlm.nih.gov/pubmed/24453067", "http://www.ncbi.nlm.nih.gov/pubmed/18535205", "http://www.ncbi.nlm.nih.gov/pubmed/23863123", "http://www.ncbi.nlm.nih.gov/pubmed/21435505", "http://www.ncbi.nlm.nih.gov/pubmed/16990592", "http://www.ncbi.nlm.nih.gov/pubmed/20116044" ]

[]

[]

[ "Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans. ROBs are whole-arm rearrangements between the acrocentric chromosomes 13, 14, 15, 21, and 22." ]

[ "13", "14", "15", "21", "22" ]

[ "Sperm segregation analysis of a (13;22) Robertsonian translocation carrier by FISH: a comparison of locus-specific probe and whole chromosome painting.", "The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes. Most of the meiotic segregation studies of human Robertsonian translocations have been performed on common t(13;14) and t(14;21) translocations. ", "Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans. ROBs are whole-arm rearrangements between the acrocentric chromosomes 13-15, 21, and 22. ROBs can be classified into two groups depending on their frequency of occurrence, common (rob(13q14q) and rob(14q21q)), and rare (all remaining possible nonhomologous combinations). ", "Robertsonian translocations (ROBs) are the most common rearrangements in humans, contributing significantly to genetic imbalance, fetal wastage, mental retardation and birth defects. Rob(14q21q) and rob(13q14q), which are formed predominantly during female meiosis, comprise the majority (approximately 85%) of all ROBs. Previous studies have shown that the breakpoints are consistently located within specific regions of the proximal short arms of chromosomes 13, 14, and 21. ", "To localize the chAB4 sequences more precisely on the acrocentrics, chAB4-specific probes together with rDNA and a number of satellite sequences were hybridized to metaphase chromosomes of normal probands and of carriers of Robertsonian translocations of the frequent types rob(13q14q) and rob(14q21q). ", "Chromosome 22, most probably, is the only chromosome where chAB4 is found in the direct neighbourhood of the centromere. Fluorescence in situ hybridization analyses of metaphase chromosomes of carriers of rob(21q22q) revealed breakpoint diversity for this rare type of Robertsonian translocation chromosome. ", "This process is suggested for the evolution of an alpha satellite subfamily recently found on chromosomes 13, 14 and 21. The presence of this alpha subfamily may allow pairing between these chromosomes leading to the observed non-random participation of these chromosomes in t(13q14q) and t(14q21q) Robertsonian translocations.", "The pattern of association of acrocentric chromosomes was examined in ten and five carriers of a 15/21 and a 13/14 Robertsonian translocation, respectively, and was compared with that of the same numbers of relatives with normal karyotypes.", "Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations.", "Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long \"p\" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed", "The purpose of this study was to search for cytologic evidence of robertsonian translocation formation that involves chromosomes 14q and 21q in human oogenesis with the use of dual color fluorescent in situ hybridization with whole chromosome paints.The oocytes from a chromosomally normal fetus at 23.5 weeks of gestation underwent cohybridization with chromosome specific DNA libraries from chromosomes 14 and 21", "The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes", "Homologous alpha satellite sequences on human acrocentric chromosomes with selectivity for chromosomes 13, 14 and 21: implications for recombination between nonhomologues and Robertsonian translocations.", "The t(13;22) Robertsonian translocation constitutes a rare form of rearrangement between acrocentric human chromosomes." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/15845597", "http://www.ncbi.nlm.nih.gov/pubmed/6163355", "http://www.ncbi.nlm.nih.gov/pubmed/2793186", "http://www.ncbi.nlm.nih.gov/pubmed/23771085", "http://www.ncbi.nlm.nih.gov/pubmed/3463445", "http://www.ncbi.nlm.nih.gov/pubmed/2831495", "http://www.ncbi.nlm.nih.gov/pubmed/25179263", "http://www.ncbi.nlm.nih.gov/pubmed/15284799", "http://www.ncbi.nlm.nih.gov/pubmed/10096024", "http://www.ncbi.nlm.nih.gov/pubmed/20045761", "http://www.ncbi.nlm.nih.gov/pubmed/11330398", "http://www.ncbi.nlm.nih.gov/pubmed/12424707", "http://www.ncbi.nlm.nih.gov/pubmed/8659523", "http://www.ncbi.nlm.nih.gov/pubmed/8010709", "http://www.ncbi.nlm.nih.gov/pubmed/2658738", "http://www.ncbi.nlm.nih.gov/pubmed/12210293", "http://www.ncbi.nlm.nih.gov/pubmed/1478673", "http://www.ncbi.nlm.nih.gov/pubmed/11536270", "http://www.ncbi.nlm.nih.gov/pubmed/527972", "http://www.ncbi.nlm.nih.gov/pubmed/2095460", "http://www.ncbi.nlm.nih.gov/pubmed/15505407", "http://www.ncbi.nlm.nih.gov/pubmed/9865780", "http://www.ncbi.nlm.nih.gov/pubmed/19070179" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002904", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014178", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002877", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006801", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002875" ]

[ "No. Based on meta-analysis, there is no evidence that tirilazad, in addition to nimodipine, reduces mortality or improves poor outcome in patients with aneurysmal subarachnoid haemorrhage." ]

[ "no" ]

[ "There was no significant difference between the two groups at the end of follow up for the primary outcome, death (odds ratio (OR) 0.89, 95% confidence interval (CI) 0.74 to 1.06), or in poor outcome (death, vegetative state or severe disability) (OR 1.04, 95% CI 0.90 to 1.21). During the treatment period, fewer patients developed delayed cerebral ischaemia in the tirilazad group than in the control group (OR 0.80, 95% CI 0.69 to 0.93). Subgroup analyses did not demonstrate any significant difference in effects of tirilazad on clinical outcomes. ", "AUTHORS' CONCLUSIONS: There is no evidence that tirilazad, in addition to nimodipine, reduces mortality or improves poor outcome in patients with aneurysmal SAH.", "This clinical trial suggest that tirilazad mesylate, at a dosage of 6 mg/kg/day, improves overall outcome in aneurysmal subarachnoid hemorrhage patients.", "Tirilazad is ineffective.There are many possible successful treatment options for preventing vasospasm, delayed ischemic neurologic deficits, and poor neurologic outcome following aneurysmal subarachnoid hemorrhage; however, further multicenter RCTs need to be performed to determine if there is a significant benefit from their use", "Findings from previous multicenter clinical trials have suggested that tirilazad mesylate, a synthetic nonhormonal 21-aminosteroid, might be effective in preventing delayed cerebral ischemia following subarachnoid hemorrhage (SAH).", "This clinical trial suggest that tirilazad mesylate, at a dosage of 6 mg/kg/day, improves overall outcome in aneurysmal subarachnoid hemorrhage patients." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/9509802", "http://www.ncbi.nlm.nih.gov/pubmed/8592224", "http://www.ncbi.nlm.nih.gov/pubmed/8592225", "http://www.ncbi.nlm.nih.gov/pubmed/20166088", "http://www.ncbi.nlm.nih.gov/pubmed/9046304", "http://www.ncbi.nlm.nih.gov/pubmed/9773664", "http://www.ncbi.nlm.nih.gov/pubmed/8737119", "http://www.ncbi.nlm.nih.gov/pubmed/7714603", "http://www.ncbi.nlm.nih.gov/pubmed/10350245", "http://www.ncbi.nlm.nih.gov/pubmed/22152574", "http://www.ncbi.nlm.nih.gov/pubmed/10350246", "http://www.ncbi.nlm.nih.gov/pubmed/18810661" ]

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[ "http://www.biosemantics.org/jochem#4215434", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4260337", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013345", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013812", "http://www.biosemantics.org/jochem#4236283", "http://www.biosemantics.org/jochem#4260337", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019468" ]

[ "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively The Cajal body has now regained the interest of biologists, due to the isolation of a protein marker, coilin.", "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively Extensive studies have characterized the interaction between coilin and the various other protein components of CBs and related subnuclear domains; however, only a few have examined interactions between coilin and nucleic acid.", "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively. The Cajal (coiled) body is a discrete nuclear organelle that was first described in mammalian neurons in 1903.", "coilin", "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively", "Coilin, more than a molecular marker of the cajal (coiled) body The Cajal body has now regained the interest of biologists, due to the isolation of a protein marker, coilin.", "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively." ]

[ "coilin" ]

[ "Coilin is widely known as the protein marker of the Cajal body, a subnuclear domain important to the biogenesis of small nuclear ribonucleoproteins and telomerase, complexes that are crucial to pre-messenger RNA splicing and telomere maintenance, respectively", "Extensive studies have characterized the interaction between coilin and the various other protein components of CBs and related subnuclear domains; however, only a few have examined interactions between coilin and nucleic acid.", "coilin is tightly associated with nucleic acid, displays RNase activity in vitro, and is redistributed to the ribosomal RNA (rRNA)-rich nucleoli in cells treated with the DNA-damaging agents cisplatin and etoposide", "Here, we report a specific in vivo association between coilin and rRNA, U small nuclear RNA (snRNA), and human telomerase RNA, which is altered upon treatment with DNA-damaging agents. Using chromatin immunoprecipitation, we provide evidence of coilin interaction with specific regions of U snRNA gene loci.", "Additionally, we provide evidence of coilin involvement in the processing of human telomerase RNA both in vitro and in vivo.", "Coilin, more than a molecular marker of the cajal (coiled) body", "The Cajal body has now regained the interest of biologists, due to the isolation of a protein marker, coilin.", "Here, I would like to discuss what we have learned about coilin and suggest a possible role for coilin in RNA processing and cellular trafficking, especially in relation to Cajal bodies and nucleoli. ", "Coilin-p80 is a marker protein for nuclear Cajal bodies (coiled bodies; CBs) which are also involved in snRNP maturation, storage or transport.", "Coilin is another nuclear SMN binding partner and a marker protein for Cajal bodies (CBs).", "A limited set of NBs also contained coilin, a marker protein for Cajal bodies (CBs).", "We performed a genome-wide screen to identify proteins that colocalize with coilin, the marker protein of Cajal bodies.", "Coilin is a marker protein for subnuclear organelles known as Cajal bodies, which are sites of various RNA metabolic processes including the biogenesis of spliceosomal small nuclear ribonucleoprotein particles.", "Coilin is a marker protein for the Cajal body, a subnuclear domain acting as a site for assembly and maturation of nuclear RNA-protein complexes.", "We performed a genome-wide screen to identify proteins that colocalize with coilin, the marker protein of Cajal bodies", "Cajal bodies (CB) are subnuclear domains that contain various proteins with diverse functions including the CB marker protein coilin", "Coilin is another nuclear SMN binding partner and a marker protein for Cajal bodies (CBs)", "One of these target proteins is coilin; a basic protein located in nuclear Cajal bodies", "Coilin is known as the marker protein for Cajal bodies (CBs), subnuclear domains important for the biogenesis of small nuclear ribonucleoproteins (snRNPs) which function in pre-mRNA splicing.", "Cajal bodies (coiled bodies, CBs) are nuclear organelles of unknown function and are characterized by a wide variety of components including various basal transcription and cell cycle proteins, the nucleolar proteins fibrillarin and Nopp140, numerous small nuclear ribonucleoproteins, the survival motor neuron protein complex, and the marker protein, p80 coilin.", "Perturbation of SMN function results in disassembly of Cajal bodies and relocalization of the marker protein, coilin, to nucleoli.", "Human coilin interacting nuclear ATPase protein (hCINAP) directly interacts with coilin, a marker protein of Cajal Bodies (CBs), nuclear organelles involved in the maturation of small nuclear ribonucleoproteins UsnRNPs and snoRNPs. hCINAP has previously been designated as an adenylate kinase (AK6), but is very atypical as it exhibits unusually broad substrate specificity, structural features characteristic of ATPase/GTPase proteins (Walker motifs A and B) and also intrinsic ATPase activity.", "Coilin is another nuclear SMN binding partner and a marker protein for Cajal bodies (CBs).", "Cajal bodies (CB) are subnuclear domains that contain various proteins with diverse functions including the CB marker protein coilin.", "We have found that coilin, the marker protein for Cajal bodies (coiled bodies, CBs), is a self-interacting protein, and we have mapped the domain responsible for this activity to the amino-terminus.", "Cajal bodies contain a marker protein of unknown function, p80-coilin, and many components involved in transcription and processing of nuclear RNAs.", "We performed a genome-wide screen to identify proteins that colocalize with coilin, the marker protein of Cajal bodies.", "A defect in this activity caused a significant accumulation of the Cajal body marker protein coilin in nucleoli.", "Coilin, more than a molecular marker of the cajal (coiled) body.", "We have constructed a stable HeLa cell line, HeLa(GFP-coilin), that expresses the Cajal body marker protein, p80 coilin, fused to the green fluorescent protein (GFP-coilin).", "The Cajal body, originally identified over 100 years ago as a nucleolar accessory body in neurons, has come to be identified with nucleoplasmic structures, often quite tiny, that contain coiled threads of the marker protein, coilin.", "By immunoprecipitation we find that WRAP53 associates with the Cajal body marker coilin, the splicing regulatory protein SMN, and the nuclear import receptor importinβ, and that WRAP53 is essential for complex formation between SMN-coilin and SMN-importinβ." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22558428", "http://www.ncbi.nlm.nih.gov/pubmed/11302690", "http://www.ncbi.nlm.nih.gov/pubmed/10806077", "http://www.ncbi.nlm.nih.gov/pubmed/14989147", "http://www.ncbi.nlm.nih.gov/pubmed/10944589", "http://www.ncbi.nlm.nih.gov/pubmed/16079131", "http://www.ncbi.nlm.nih.gov/pubmed/23274112", "http://www.ncbi.nlm.nih.gov/pubmed/24358231", "http://www.ncbi.nlm.nih.gov/pubmed/23064547", "http://www.ncbi.nlm.nih.gov/pubmed/27317682", "http://www.ncbi.nlm.nih.gov/pubmed/24569877", "http://www.ncbi.nlm.nih.gov/pubmed/21920476" ]

[]

[]

[ "Mutation in the lysosomal trafficking regulator (LYST) gene causes the Chédiak-Higashi syndrome (CHS)." ]

[ "lysosomal trafficking regulator gene", "LYST gene" ]

[ "We detected a homozygous missense mutation (c.4189T>G, p.F1397V) in the lysosomal trafficking regulator (LYST) gene, which is described as the causative gene for Chédiak-Higashi syndrome (CHS). ", "A frameshift mutation in the LYST gene is responsible for the Aleutian color and the associated Chédiak-Higashi syndrome in American mink.", "As with forms of CHS in other species, we report that the mink CHS is linked to the lysosomal trafficking regulator ( LYST ) gene. ", "LYST analysis was performed for 10 patients; seven different mutations were detected in seven patients, whereas no mutation was identified in three patients. ", "Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by immunodeficiency, neurological dysfunction, and oculocutaneous albinism. ", "Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism.", "This phenotype is similar to that reported previously in lvsB mutant cells where the ortholog of the LYST gene, involved in CHS, is mutated", "Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the β-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.", "LYST is a large cytosolic protein that influences the biogenesis of lysosome-related organelles, and mutation of the encoding gene, LYST, can cause Chediak-Higashi syndrome.", "Chediak-Higashi syndrome (CHS) is an autosomal recessive hereditary disorder in Japanese Black cattle, caused by a mutation of the Lyst gene.", "Chediak-Higashi syndrome (CHS) is caused by mutations in the gene encoding LYST protein, the function of which remains poorly understood.", "Mutations of genes other than LYST were suspected in some cases." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/14599068", "http://www.ncbi.nlm.nih.gov/pubmed/20617205", "http://www.ncbi.nlm.nih.gov/pubmed/25582874", "http://www.ncbi.nlm.nih.gov/pubmed/24521565", "http://www.ncbi.nlm.nih.gov/pubmed/25425525", "http://www.ncbi.nlm.nih.gov/pubmed/22762706", "http://www.ncbi.nlm.nih.gov/pubmed/23521865", "http://www.ncbi.nlm.nih.gov/pubmed/22032885", "http://www.ncbi.nlm.nih.gov/pubmed/18194410", "http://www.ncbi.nlm.nih.gov/pubmed/23615171", "http://www.ncbi.nlm.nih.gov/pubmed/23804531" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005796", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002609", "http://www.disease-ontology.org/api/metadata/DOID:2935" ]

[ "Fusarium graminearum is a broad host pathogen threatening cereal crops in temperate regions around the world.", "Fusarium graminearum is a broad host pathogen threatening cereal crops in temperate regions around the world. " ]

[ "cereal crops" ]

[ "Fusarium graminearum is a broad host pathogen threatening cereal crops in temperate regions around the world. ", "Fusarium head blight (FHB) of small cereals is a disease of global importance with regard to economic losses and mycotoxin contamination harmful to human and animal health. In Germany, FHB is predominantly associated with wheat and F. graminearum is recognised as the major causal agent of the disease, but little is known about FHB of barley", "Fusarium graminearum is a filamentous fungal pathogen that causes wheat Fusarium head blight", "Disruption of the GABA shunt affects mitochondrial respiration and virulence in the cereal pathogen Fusarium graminearum.", "Fusarium graminearum is an important plant pathogen that causes head blight of major cereal crops", "Fusarium graminearum is a ubiquitous pathogen of cereal crops, including wheat, barley, and maize", "Disruption of the GABA shunt affects mitochondrial respiration and virulence in the cereal pathogen Fusarium graminearum.", "The Ascomycete pathogen Fusarium graminearum can infect all cereal species and lower grain yield, quality and safety.", "Arabidopsis is susceptible to the cereal ear blight fungal pathogens Fusarium graminearum and Fusarium culmorum.", "Fusarium head blight (FHB) is a devastating disease of small grain cereal crops caused by the necrotrophic pathogen Fusarium graminearum and Fusarium culmorum.", "The cereal pathogen Fusarium graminearum threatens food and feed production worldwide.", " necrotrophic fungal pathogen Fusarium that cause head blight and crown rot of cereals including wheat also infect a number of alternative host plants.", "Fusarium species cause Fusarium head blight (FHB) and other important diseases of cereals", "usarium graminearum is a toxigenic fungal pathogen that causes Fusarium head blight (FHB) and crown rot on cereal crops worldwide.", "usarium graminearum is the fungal pathogen that causes globally important diseases of cereals ", "Fusarium graminearum, the causal agent of head scab disease of small grain cereals which threatens global food security. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/18179606", "http://www.ncbi.nlm.nih.gov/pubmed/26693688", "http://www.ncbi.nlm.nih.gov/pubmed/26585460", "http://www.ncbi.nlm.nih.gov/pubmed/22516221", "http://www.ncbi.nlm.nih.gov/pubmed/26607286", "http://www.ncbi.nlm.nih.gov/pubmed/26305050", "http://www.ncbi.nlm.nih.gov/pubmed/17031651", "http://www.ncbi.nlm.nih.gov/pubmed/22028654", "http://www.ncbi.nlm.nih.gov/pubmed/21639892", "http://www.ncbi.nlm.nih.gov/pubmed/24779355", "http://www.ncbi.nlm.nih.gov/pubmed/12492838", "http://www.ncbi.nlm.nih.gov/pubmed/17222149", "http://www.ncbi.nlm.nih.gov/pubmed/26198851", "http://www.ncbi.nlm.nih.gov/pubmed/26679010", "http://www.ncbi.nlm.nih.gov/pubmed/17555271" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005670", "http://www.biosemantics.org/jochem#4053737", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010945" ]

[ "adeno-associated viruses\nlentiviruses\nherpes simplex viral vector" ]

[ "adeno-associated viruses", "lentiviruses", "herpes simplex viral vector" ]

[ "Not only can some genetically engineered adenoviral vectors achieve remarkably efficient and specific gene delivery to target cells, but they also may act as anticancer agents by selectively replicating within cancer cells", ". Using these criteria, we then evaluate approaches made to model PD using viral vectors to date, including both adeno-associated viruses and lentiviruses", "Recombinant AAV (rAAV) vectors are a suitable vector for gene therapy studies because of desired characteristics such as low immunogenicity, transfection of non-dividing and dividing cells, and long-term expression of the transgene.", "Over the last five years, the number of clinical trials involving AAV (adeno-associated virus) and lentiviral vectors continue to increase by about 150 trials each year. For continued success, AAV and lentiviral expression cassettes need to be designed to meet each disease's specific needs. ", "describes commonly used gene therapeutics (herpes simplex viral vector (HSV) and adeno-associated viral vector (AAV))", "This study examined the efficacy of gene therapy of lung adenocarcinoma using specifically controlled type I herpes simplex virus recombinant vector expressing Gibbon ape leukemia virus membrane fusion glycoprotein gene (GALV.fus)" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26611583", "http://www.ncbi.nlm.nih.gov/pubmed/25636961", "http://www.ncbi.nlm.nih.gov/pubmed/26611600", "http://www.ncbi.nlm.nih.gov/pubmed/25962909", "http://www.ncbi.nlm.nih.gov/pubmed/24519667", "http://www.ncbi.nlm.nih.gov/pubmed/26607476" ]

[]

[]

[ "No. Dexamethasone and other glucocorticoids should be avoided for treatment of intracerebral hemorrhage because they do not improve patient outcome and are associated with increased risk of side effects." ]

[ "no" ]

[ "Dexamethasone and other glucocorticoids should be avoided. ", "During the third interim analysis, the death rate at the 21st day was identical in the two groups (dexamethasone vs. placebo, 21 of 46 vs. 21 of 47; chi-square = 0.01, P = 0.93). In contrast, the rate of complications (mostly infections and complications of diabetes) was much higher in the dexamethasone group (chi-square = 10.89, P less than 0.001), leading to early termination of the study. In the light of the absence of a demonstrable beneficial effect and the presence of a significant harmful effect, current practices of using dexamethasone for treatment of primary supratentorial hemorrhage should be reconsidered.", "In the light of the absence of a demonstrable beneficial effect and the presence of a significant harmful effect, current practices of using dexamethasone for treatment of primary supratentorial hemorrhage should be reconsidered." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/19108704", "http://www.ncbi.nlm.nih.gov/pubmed/16034939", "http://www.ncbi.nlm.nih.gov/pubmed/3574383" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0011777", "o": "dexamethasone" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0011777", "o": "http://linkedlifedata.com/resource/umls/label/A0477612" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A0477612", "o": "dexamethasone" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002543", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D045506", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4271528", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020299", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003907", "http://www.biosemantics.org/jochem#4271528" ]

[ "rewiring occurred only if the variant disrupted a ctcf-associated boundary domain . of a tad boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. . of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions . ", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. Both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding DNA, and a cluster of limb enhancers normally associated with Epha4 is misplaced relative to TAD boundaries and drives ectopic limb expression of another gene in the locus. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. ", "This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions Both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding DNA, and a cluster of limb enhancers normally associated with Epha4 is misplaced relative to TAD boundaries and drives ectopic limb expression of another gene in the locus.", "both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding dna, and a cluster of limb enhancers normally associated with epha4 is misplaced relative to tad boundaries and drives ectopic limb expression of another gene in the locus.", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. ", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding DNA, and a cluster of limb enhancers normally associated with Epha4 is misplaced relative to TAD boundaries and drives ectopic limb expression of another gene in the locus. This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. ", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation.", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. In this way, disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain.", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions Both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding DNA, and a cluster of limb enhancers normally associated with Epha4 is misplaced relative to TAD boundaries and drives ectopic limb expression of another gene in the locus. This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. " ]

[]

[ "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation.", "Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions", "Both in mouse limb tissue and patient-derived fibroblasts, disease-relevant structural changes cause ectopic interactions between promoters and non-coding DNA, and a cluster of limb enhancers normally associated with Epha4 is misplaced relative to TAD boundaries and drives ectopic limb expression of another gene in the locus.", "This rewiring occurred only if the variant disrupted a CTCF-associated boundary domain. ", "Disruption of a TAD boundary causes ectopic chromosomal contacts and long-range transcriptional misregulation." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22495304", "http://www.ncbi.nlm.nih.gov/pubmed/25959774" ]

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[]

[ "The typical manifestations of Moschocowitz syndrome (Thrombotic-thrombocytopenic purpura) are:\n1) thrombocytopenia, \n2) haemolysis, \n3) fever, \n4) coma and \n5) renal failure." ]

[ "thrombocytopenia", "thrombotic microangiopathy", "haemolysis", "hemolytic anemia", "fever", "coma", "neurological symptoms", "renal failure" ]

[ "The combination of neurological symptoms, thrombocytopenia, fever, renal failure and hemolytic anemia in a patient taking ticlopidine points to a diagnosis of TTP.", "In addition to the typical manifestations of thrombotic-thrombocytopenic purpura like thrombocytopenia, haemolysis, fever, coma and renal failure, signs of a beginning DIC could be seen in a patient after abdominal surgery. ", "Moschcowitz syndrome or thrombotic thrombocytopenic purpura is a rare disorder with a poor prognosis. This syndrome is characterized by a microangiopathic hemolytic anemia with thrombocytopenia, neurologic symptoms and renal disease. ", "Moschcowitz's syndrome is a rare condition with poor prognosis. It is characterized by a microangiopathic haemolytic anaemia associated with thrombocytopenia, neurological symptoms and renal involvement.", "Thrombotic thrombocytopenic purpura (TTP), in 1924 first described by Moschcowitz, is a clinically heterogeneous syndrome associated with thrombocytopenia, Coombs-negative hemolytic anemia, neurologic changes, renal impairment, and fever.", "Thrombotic thrombocytopenic purpura (TTP), in 1924 first described by Moschcowitz, is a clinically heterogeneous syndrome associated with thrombocytopenia, Coombs-negative hemolytic anemia, neurologic changes, renal impairment, and fever", "Thrombotic thrombocytopenic purpura (TTP, Moschcowitz disease) is characterized by thrombotic microangiopathy leading to microvascular occlusion and ischemic dysfunction of various organs including the brain", "Severe deficiency of von Willebrand factor-cleaving protease (ADAMTS-13) activity (<5% of normal) is specific for classical thrombotic thrombocytopenic purpura (TTP), a disorder presenting with thrombocytopenia, microangiopathic haemolytic anaemia and often with organ dysfunction such as neurological symptoms, renal failure, and fever.", "In a 57-year-old female patient, who was admitted with fluctuating central neurological abnormalities and generalized purpura, was made the diagnosis of a thrombotic thrombocytopenic purpura (TTP, Moschcowitz' syndrome).", "Thrombotic thrombocytopenic purpura (TTP) is a syndrome that occurs mainly in adults with multiorgan microvascular thrombosis consisting of thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, renal involvement, and fever." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/6757857", "http://www.ncbi.nlm.nih.gov/pubmed/10714127", "http://www.ncbi.nlm.nih.gov/pubmed/6752882", "http://www.ncbi.nlm.nih.gov/pubmed/21853406", "http://www.ncbi.nlm.nih.gov/pubmed/21184040", "http://www.ncbi.nlm.nih.gov/pubmed/14727263", "http://www.ncbi.nlm.nih.gov/pubmed/10668344", "http://www.ncbi.nlm.nih.gov/pubmed/2107174", "http://www.ncbi.nlm.nih.gov/pubmed/9036362", "http://www.ncbi.nlm.nih.gov/pubmed/16240903", "http://www.ncbi.nlm.nih.gov/pubmed/7712934", "http://www.ncbi.nlm.nih.gov/pubmed/16388418", "http://www.ncbi.nlm.nih.gov/pubmed/11450586", "http://www.ncbi.nlm.nih.gov/pubmed/7863389", "http://www.ncbi.nlm.nih.gov/pubmed/25168331", "http://www.ncbi.nlm.nih.gov/pubmed/3752426", "http://www.ncbi.nlm.nih.gov/pubmed/12923683" ]

[]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011696", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011697", "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", "http://www.disease-ontology.org/api/metadata/DOID:10772" ]

[ "No. Only 37 cases of stroke during or soon after long-haul flights have been published. A single center study reported that 42 out of 5727 stroke admissions (0.73%) were flight-related strokes." ]

[ "no" ]

[ "Only 37 cases of stroke during or soon after long-haul flights have been published to our knowledge. ", "Our centre admitted 5727 stroke patients, of whom 42 (0.73%) had flight-related strokes.", "The authors report three cases of ischemic stroke in young adults that occurred during or after an airplane flight." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/16128878", "http://www.ncbi.nlm.nih.gov/pubmed/26892280", "http://www.ncbi.nlm.nih.gov/pubmed/26898578", "http://www.ncbi.nlm.nih.gov/pubmed/11914416" ]

[ { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0038454", "o": "Stroke" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020521" ]

[ "locus overlap analysis (lola) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.", "Genomic datasets are often interpreted in the context of large-scale reference databases. Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.", "Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data." ]

[ "LOLA" ]

[ "LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor.", "Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.", "Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.R package available in Bioconductor and on the following website: http://lola.computational-epigenetics.org.nsheffield@cemm.oeaw.ac.at or cbock@cemm.oeaw.ac.at.<CopyrightInformation>© The Author 2015", "LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor", "Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data.R package available in Bioconductor and on the following website: http://lola.computational-epigenetics.org.nsheffield@cemm.oeaw.ac.at or cbock@cemm.oeaw.ac.at.<CopyrightInformation>© The Author 2015.", "LOLA: enrichment analysis for genomic region sets and regulatory elements in R and Bioconductor.", "Locus Overlap Analysis (LOLA) provides easy and automatable enrichment analysis for genomic region sets, thus facilitating the interpretation of functional genomics and epigenomics data." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26508757" ]

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[]

[ "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts. The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster. TIRs were deduced to form dsRNAs as a putative target of ADAR. Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster. RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets. ", "The ADAR (adenosine deaminase, RNA-specific) RNA editing enzyme controls neuronal excitability in Drosophila melanogaster.", "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts. The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster. Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster. TIRs were deduced to form dsRNAs as a putative target of ADAR. we show that expression of the editing enzyme, ADAR (adenosine deaminase acting on RNA), is dramatically decreased at elevated temperatures, partially, but not fully, explaining some target responses to temperature. ", "Adenosine-to-inosine RNA editing is a highly conserved process that post-transcriptionally modifies mRNA, generating proteomic diversity, particularly within the nervous system of metazoans. RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets. RNA editing by deamination of specific adenosine bases to inosines during pre-mRNA processing generates edited isoforms of proteins. RNA editing is proposed as a modulator of transcriptomes, but its biological impact has not been fully elucidated. Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts.", "adar", "RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets. Adenosine-to-inosine RNA editing is a highly conserved process that post-transcriptionally modifies mRNA, generating proteomic diversity, particularly within the nervous system of metazoans.", "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts. TIRs were deduced to form dsRNAs as a putative target of ADAR. ", "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts. TIRs were deduced to form dsRNAs as a putative target of ADAR. The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster. Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster. RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets. ", "GABA inhibitory signalling is impaired in human epileptic and autistic conditions, and vertebrate ADARs may have a relevant evolutionarily conserved control over neuronal excitability. RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets.", "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts." ]

[ "ADAR", "adenosine deaminase, RNA-specific" ]

[ "Adenosine deaminases that act on RNA [adenosine deaminase, RNA specific (ADAR)] catalyze the site-specific conversion of adenosine to inosine in primary mRNA transcripts.", "TIRs were deduced to form dsRNAs as a putative target of ADAR. ", "The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster.", "Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster.", "RNA editing usually affects only a fraction of expressed transcripts and there is a vast amount of variation in editing levels of ADAR (adenosine deaminase, RNA-specific) targets.", "we show that expression of the editing enzyme, ADAR (adenosine deaminase acting on RNA), is dramatically decreased at elevated temperatures, partially, but not fully, explaining some target responses to temperature. ", "The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster", "In Drosophila, many messenger RNAs involved in neuro-transmission are re-coded at the RNA level by the RNA-editing enzyme, dADAR, leading to the incorporation of amino acids that are not directly encoded by the genome. dADAR also re-codes its own transcript, but the consequences of this auto-regulation in vivo are unclear", "Novel putative nicotinic acetylcholine receptor subunit genes, Dalpha5, Dalpha6 and Dalpha7, in Drosophila melanogaster identify a new and highly conserved target of adenosine deaminase acting on RNA-mediated A-to-I pre-mRNA editing", "The genome of the fruitfly, Drosophila melanogaster, contains a single gene encoding the enzyme responsible for deamination, termed ADAR (for adenosine deaminase acting on RNA)", "Using these and other available data, we discovered and analyzed thousands of neuronal human and mouse circRNAs. circRNAs were extraordinarily enriched in the mammalian brain, well conserved in sequence, often expressed as circRNAs in both human and mouse, and sometimes even detected in Drosophila brains. circRNAs were overall upregulated during neuronal differentiation, highly enriched in synapses, and often differentially expressed compared to their mRNA isoforms. circRNA expression correlated negatively with expression of the RNA-editing enzyme ADAR1", "While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing", "Aside from their role in generating protein diversity in the central nervous system, ADARs have been implicated in the hypermutation of some RNA viruses, although why this hypermutation occurs is not well understood.Here we describe the hypermutation of adenosines to guanosines in the genome of the sigma virus--a negative sense RNA virus that infects Drosophila melanogaster", "The genome of the fruitfly, Drosophila melanogaster, contains a single gene encoding the enzyme responsible for deamination, termed ADAR (for adenosine deaminase acting on RNA).", "The enzyme has no activity on dsRNA substrates but is a tRNA deaminase with specificity for adenosine 37 of insect alanine tRNA. dADAT1 shows greater similarity to vertebrate ADARs than to yeast Tad1p, supporting the hypothesis of a common evolutionary origin for ADARs and ADATs. dAdat1 transcripts are maternally supplied in the egg.", "The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster.", "Genetic Determinants of RNA Editing Levels of ADAR Targets in Drosophila melanogaster.", "Here we describe the hypermutation of adenosines to guanosines in the genome of the sigma virus--a negative sense RNA virus that infects Drosophila melanogaster.", "The RNA editing enzyme ADAR chemically modifies adenosine (A) to inosine (I), which is interpreted by the ribosome as a guanosine.", "In Drosophila, many messenger RNAs involved in neuro-transmission are re-coded at the RNA level by the RNA-editing enzyme, dADAR, leading to the incorporation of amino acids that are not directly encoded by the genome.", "Drosophila melanogaster has a single Adar gene encoding a protein related to mammalian ADAR2 that edits transcripts encoding glutamate receptor subunits.", "While several ADAR enzymes are present in mice, the presence of a single ADAR in Drosophila, combined with the diverse genetic toolkit available to researchers and the wide range of ADAR target mRNAs identified to date, make Drosophila an ideal organism to study the genetic basis of A-to-I RNA editing." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24137011", "http://www.ncbi.nlm.nih.gov/pubmed/26656153", "http://www.ncbi.nlm.nih.gov/pubmed/25555396", "http://www.ncbi.nlm.nih.gov/pubmed/17018572", "http://www.ncbi.nlm.nih.gov/pubmed/20886259" ]

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[ "CEGA is a catalog of conserved elements from genomic alignments. Harnessing the power of multiple species comparisons to detect genomic elements under purifying selection, CEGA provides a comprehensive set of CNCs identified at different radiations along the vertebrate lineage. Evolutionary constraint is identified using threshold-free phylogenetic modeling of unbiased and sensitive global alignments of genomic synteny blocks identified using protein orthology. The dynamic CEGA web interface displays alignments, genomic locations, as well as biologically relevant data to help prioritize and select CNCs of interest for further functional investigations." ]

[]

[ "CEGA--a catalog of conserved elements from genomic alignments.", "To facilitate the study of such CNCs/UCEs, we present our resource of Conserved Elements from Genomic Alignments (CEGA), accessible from http://cega.ezlab.org. Harnessing the power of multiple species comparisons to detect genomic elements under purifying selection, CEGA provides a comprehensive set of CNCs identified at different radiations along the vertebrate lineage. Evolutionary constraint is identified using threshold-free phylogenetic modeling of unbiased and sensitive global alignments of genomic synteny blocks identified using protein orthology. We identified CNCs independently for five vertebrate clades, each referring to a different last common ancestor and therefore to an overlapping but varying set of CNCs with 24 488 in vertebrates, 241 575 in amniotes, 709 743 in Eutheria, 642 701 in Boreoeutheria and 612 364 in Euarchontoglires, spanning from 6 Mbp in vertebrates to 119 Mbp in Euarchontoglires. The dynamic CEGA web interface displays alignments, genomic locations, as well as biologically relevant data to help prioritize and select CNCs of interest for further functional investigations.", "To facilitate the study of such CNCs/UCEs, we present our resource of Conserved Elements from Genomic Alignments (CEGA), accessible from http://cega.ezlab.org.", "To facilitate the study of such CNCs/UCEs, we present our resource of Conserved Elements from Genomic Alignments (CEGA), accessible from http://cega.ezlab.org", "CEGA--a catalog of conserved elements from genomic alignments", "CEGA--a catalog of conserved elements from genomic alignments.", "To facilitate the study of such CNCs/UCEs, we present our resource of Conserved Elements from Genomic Alignments (CEGA), accessible from http://cega.ezlab.org." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26527719" ]

[]

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

[ "Human chorionic gonadotropin (hCG) is associated with hyperemesis gravidarum during pregrancy." ]

[ "Human chorionic gonadotropin", "hCG" ]

[ "Maternal smoking, BMI, parity, ethnicity, fetal gender, placental weight and hyperemesis gravidarum symptoms were associated with total hCG. ", "First trimester maternal serum PAPP-A and free β-HCG levels in hyperemesis gravidarum.", "HG is associated with elevated levels of PAPP-A and free β-hCG, and such changes are independent of serum indicators of thyroid and liver function.", "hCG promotes progesterone production by corpus luteal cells; promotes angiogenesis in uterine vasculature; promoted the fusion of cytotrophoblast cell and differentiation to make syncytiotrophoblast cells; causes the blockage of any immune or macrophage action by mother on foreign invading placental cells; causes uterine growth parallel to fetal growth; suppresses any myometrial contractions during the course of pregnancy; causes growth and differentiation of the umbilical cord; signals the endometrium about forthcoming implantation; acts on receptor in mother's brain causing hyperemesis gravidarum, and seemingly promotes growth of fetal organs during pregnancy. " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25963653", "http://www.ncbi.nlm.nih.gov/pubmed/20735820", "http://www.ncbi.nlm.nih.gov/pubmed/11380287", "http://www.ncbi.nlm.nih.gov/pubmed/21360554" ]

[ { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0020450", "o": "http://linkedlifedata.com/resource/umls/label/A18647822" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18647822", "o": "gravidarum hyperemesis" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0020450", "o": "http://linkedlifedata.com/resource/umls/label/A18610602" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18610602", "o": "excessive vomiting in pregnancy" }, { "p": "http://www.w3.org/2000/01/rdf-schema#label", "s": "http://linkedlifedata.com/resource/umls/id/C0020450", "o": "Hyperemesis Gravidarum" }, { "p": "http://www.w3.org/2008/05/skos-xl#altLabel", "s": "http://linkedlifedata.com/resource/umls/id/C0020450", "o": "http://linkedlifedata.com/resource/umls/label/A18666384" }, { "p": "http://www.w3.org/2008/05/skos-xl#literalForm", "s": "http://linkedlifedata.com/resource/umls/label/A18666384", "o": "hyperemesis gravidarum" } ]

[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014839", "http://www.disease-ontology.org/api/metadata/DOID:1832", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006939", "http://www.disease-ontology.org/api/metadata/DOID:9357", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018997" ]

[ "Hydroxyurea represents the only available disease-modifying therapy for Sickle Cell Anemia (SCA)." ]

[ "no" ]

[ "Hydroxyurea represents the only available disease-modifying therapy for SCA, and has proven safety and efficacy in high-resource countries", "In conclusion, the data here presented suggests that hydroxyurea may prevent priapism attacks in sickle cell disease, probably at higher doses than usually prescribed for painful crisis prevention..", "Clinical follow-up of hydroxyurea-treated adults with sickle cell disease.", "t may also attenuate optimal response to hydroxyurea therapy, the only effective and practical treatment option for SCD in sub-Saharan Africa", "Hydroxyurea is one of the most successfully used therapies for sickle cell disease", "Clinical experience with hydroxyurea for patients with sickle cell disease (SCD) has been accumulating for the past 25 years. The bulk of the current evidence suggests that hydroxyurea is well-tolerated, safe, and efficacious for most patients with SCD" ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/21196716", "http://www.ncbi.nlm.nih.gov/pubmed/26275071", "http://www.ncbi.nlm.nih.gov/pubmed/27677923", "http://www.ncbi.nlm.nih.gov/pubmed/15307105", "http://www.ncbi.nlm.nih.gov/pubmed/20008183" ]

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[ "http://www.disease-ontology.org/api/metadata/DOID:10923", "http://www.biosemantics.org/jochem#4275774", "http://www.biosemantics.org/jochem#http://www.biosemantics.org/jochem#:4275774", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000755", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006450", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006918" ]

[ "Magnetoreception is an enigmatic, poorly understood sensory ability, described mainly on the basis of behavioural studies in animals of diverse taxa. The ability to perceive geomagnetic fields (GMFs) represents a fascinating biological phenomenon. Studies on transgenic flies have provided evidence that photosensitive Cryptochromes (Cry) are involved in the response to magnetic fields (MFs). The photoreceptor protein cryptochrome is thought to host, upon light absorption, a radical pair that is sensitive to very weak magnetic fields, endowing migratory birds with a magnetic compass sense." ]

[]

[ "The ability to perceive geomagnetic fields (GMFs) represents a fascinating biological phenomenon. Studies on transgenic flies have provided evidence that photosensitive Cryptochromes (Cry) are involved in the response to magnetic fields (MFs). ", "Cryptochromes, blue-light absorbing proteins involved in the circadian clock, have been proposed to be the receptor molecules of the avian magnetic compass. ", "Although it has been known for almost half a century that migratory birds can detect the direction of the Earth's magnetic field, the primary sensory mechanism behind this remarkable feat is still unclear. The leading hypothesis centers on radical pairs-magnetically sensitive chemical intermediates formed by photoexcitation of cryptochrome proteins in the retina. ", "Biogenic magnetic particles have been detected in some migratory insects, which implies the basis of magnetoreception mechanism for orientation and navigation. ", "Magnetoreception is essential for magnetic orientation in animal migration. The molecular basis for magnetoreception has recently been elucidated in fruitfly as complexes between the magnetic receptor magnetoreceptor (MagR) and its ligand cryptochrome (Cry). MagR and Cry are present in the animal kingdom.", "Magnetoreception is an enigmatic, poorly understood sensory ability, described mainly on the basis of behavioural studies in animals of diverse taxa. ", "The photoreceptor protein cryptochrome is thought to host, upon light absorption, a radical pair that is sensitive to very weak magnetic fields, endowing migratory birds with a magnetic compass sense." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25551148", "http://www.ncbi.nlm.nih.gov/pubmed/25535848", "http://www.ncbi.nlm.nih.gov/pubmed/26727944", "http://www.ncbi.nlm.nih.gov/pubmed/26953690", "http://www.ncbi.nlm.nih.gov/pubmed/26811445", "http://www.ncbi.nlm.nih.gov/pubmed/27614751", "http://www.ncbi.nlm.nih.gov/pubmed/27216936" ]

[]

[]

[ "Yes, acupuncture can cause spinal epidural hematoma." ]

[ "yes" ]

[ "RESULTS: A 54-year-old woman, a 38-year-old woman, and a 60-year-old man with hemiplegia by cervical subdural or epidural hematoma after cervical posterior paraspinal muscle needling without direct invasion (intramuscular stimulation, acupuncture, or intramuscular lidocaine) were observed.", "Acute spinal subdural hematoma with hemiplegia after acupuncture: a case report and review of the literature.", "Although acupuncture has been a popular method for the management of pain control, we encountered the first case of SDH after acupuncture.PURPOSE: The purpose of this case report was to present the first case of subdural hematoma after acupuncture and the reasons for the risks of blind cervical acupuncture.", "SUMMARY OF BACKGROUND DATA: Epidural hematomas after dry needling are quite unusual and only a few cases of epidural hematoma after acupuncture have been reported in the literature.", "Spinal epidural hematoma is a rare complication associated with pain control procedures such as facet block, acupuncture, epidural injection, etc. ", "Unintentional acupuncture needling of the thoracic spinal canal produced a spinal epidural hematoma and subarachnoid hemorrhage.", "Spinal epidural hematoma is a rare complication associated with pain control procedures such as facet block, acupuncture, epidural injection, etc.", "Spinal epidural hematoma with subarachnoid hemorrhage caused by acupuncture.", "However, subarachnoid hemorrhage and spinal epidural hematoma have been reported to occur after acupuncture in the posterior neck.", "A retrospective case report.The objective of this article is to report an unusual complication of dry needling.Epidural hematomas after dry needling are quite unusual and only a few cases of epidural hematoma after acupuncture have been reported in the literature", "Spinal epidural hematoma with subarachnoid hemorrhage caused by acupuncture", "Spinal epidural hematoma is a rare complication associated with pain control procedures such as facet block, acupuncture, epidural injection, etc", "Unintentional acupuncture needling of the thoracic spinal canal produced a spinal epidural hematoma and subarachnoid hemorrhage", "Spinal epidural hematoma with subarachnoid hemorrhage caused by acupuncture." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/27651774", "http://www.ncbi.nlm.nih.gov/pubmed/8456713", "http://www.ncbi.nlm.nih.gov/pubmed/25459742", "http://www.ncbi.nlm.nih.gov/pubmed/21289580", "http://www.ncbi.nlm.nih.gov/pubmed/21082060", "http://www.ncbi.nlm.nih.gov/pubmed/24094991" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D046748", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D026881" ]

[ "Yes, edema is the commonest presenting symptom and sign in nephrotic syndrome." ]

[ "yes" ]

[ "Nephrotic syndrome (NS) is a common clinical disease with four main clinical manifestations: hypoalbuminemia (<30 g/L), macro-proteinuria (>3.5 g/24 h), edema, and hyperlipidemia. ", "Nephrotic syndrome is an unusual manifestation of IgA Nephropathy (IgAN).", "Twelve patients with IgAN with steroid-responsive nephrotic syndrome were evaluated and followed up. All patients presented with generalized edema. ", "The clinical features of sudden onset of generalized edema, initial heavy proteinuria and initial severe hypoalbuminemia might help identify the subset of patients, especially in low grade IgAN.", "Most patients presented within 3 months duration (61.4%) and the most common symptom was puffiness of face (98.45%) followed by pedal edema (91%). ", "We analyzed medical records of 290 patients with diagnosis of nephrotic syndrome as defined by International Study of Kidney Disease in Children (ISKDC), between January 1987 and December 2000, at the Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar. ", "He was admitted because of systemic edema and dyspnea on effort Laboratory data revealed renal failure and nephrotic syndrome, whereas there was no symptom of diabetic retinopathy.", "Nephrotic syndrome: more than just oedema.", "Oedema is the commonest presenting symptom and sign in nephrotic syndrome. ", "One of these five clinical syndromes is the nephrotic syndrome, which is characterized by proteinuria > 3.5 g/day accompanied by hypalbuminemia, hyperlipoproteinemia and pronounced edema", "Tolvaptan therapy for massive edema in a patient with nephrotic syndrome", "Nephrotic syndrome (NS) is characterized by water and sodium retention, which leads to edema", "The non-osmotic stimulation of arginine vasopressin release from the pituitary gland has been implicated as one of the important factors in abnormal water retention in patients with NS.We present the initial description of a patient with massive edema caused by refractory nephrotic syndrome, which was effectively treated with tolvaptan, a selective oral vasopressin V2 receptor antagonist.Tolvaptan is effective for the treatment of massive edema caused by NS", "We report a child with steroid-resistant nephrotic syndrome with diuretic-resistant nephrotic edema treated successfully using acute peritoneal dialysis as a means of UF", "Albumin and Furosemide Combination for Management of Edema in Nephrotic Syndrome: A Review of Clinical Studies", "The treatment of edema in patients with nephrotic syndrome is generally managed by dietary sodium restriction and loop diuretics", "Nine months after introduction of tiopronin, the boy manifested generalized edema, oliguria, and biochemical indices of nephrotic syndrome", "Blessed were the days when it all made sense and the apparent mechanism for edema formation in nephrotic syndrome was straightforward: the kidneys lost protein in the urine, which lowered the plasma oncotic pressure", "The nephrotic syndrome is characterized by a combination of pathological lab values and clinical symptoms, i. e. pronounced proteinuria (usually more than 3 - 3,5 g protein/24 h), hypoalbuminemia, edema and hyperlipidemia.", "The patient was admitted with edema of both legs, and the nephrotic syndrome was discovered, leading to the diagnosis of AA amyloidosis on kidney biopsy.", "Linear regression to relate measures.Other signs and symptoms of nephrotic syndrome at baseline (serum albumin < 3.5 g/dL, serum total cholesterol > 260 mg/dL or use of a statin, and edema or use of a loop diuretic); progression of chronic kidney disease during follow-up (doubling of baseline serum creatinine level or requirement for dialysis or kidney transplantation).", "A case of interstitial shadows associated with oral cyclophosphamide therapy in a 32-month-old girl with steroid-resistant nephrotic syndrome, who was admitted to the Nishi-Kobe Medical Center with systemic edema, is reported.", "Nephrotic syndrome represents a constellation of symptoms including hyperalbuminuria, hypoalbuminemia, edema formation, hypercholesterolemia, hypertension, hypercoagulopathy, and increased infection risk.", "Pathophysiology of edema formation in children with nephrotic syndrome not due to minimal change disease.", "To study the evidence-based therapy of edema in nephrotic syndrome by analyzing the literatures systematically.", "Edema is the prominent feature of nephrotic syndrome and initially develops around the eyes and legs.", "Intussusception should be considered in the differential diagnosis of abdominal pain in patients with nephrotic syndrome, especially in patients exhibiting prolonged edema.", "Oedema is the commonest presenting symptom and sign in nephrotic syndrome.", "Other signs and symptoms of nephrotic syndrome at baseline (serum albumin < 3.5 g/dL, serum total cholesterol > 260 mg/dL or use of a statin, and edema or use of a loop diuretic); progression of chronic kidney disease during follow-up (doubling of baseline serum creatinine level or requirement for dialysis or kidney transplantation)." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/17448310", "http://www.ncbi.nlm.nih.gov/pubmed/20368913", "http://www.ncbi.nlm.nih.gov/pubmed/10884998", "http://www.ncbi.nlm.nih.gov/pubmed/17111701", "http://www.ncbi.nlm.nih.gov/pubmed/10361423", "http://www.ncbi.nlm.nih.gov/pubmed/15852660", "http://www.ncbi.nlm.nih.gov/pubmed/1953084", "http://www.ncbi.nlm.nih.gov/pubmed/9241903", "http://www.ncbi.nlm.nih.gov/pubmed/19556043", "http://www.ncbi.nlm.nih.gov/pubmed/23510630", "http://www.ncbi.nlm.nih.gov/pubmed/21234253", "http://www.ncbi.nlm.nih.gov/pubmed/21302208", "http://www.ncbi.nlm.nih.gov/pubmed/24240509", "http://www.ncbi.nlm.nih.gov/pubmed/21454171", "http://www.ncbi.nlm.nih.gov/pubmed/17009081", "http://www.ncbi.nlm.nih.gov/pubmed/26457719", "http://www.ncbi.nlm.nih.gov/pubmed/26281851", "http://www.ncbi.nlm.nih.gov/pubmed/25722313", "http://www.ncbi.nlm.nih.gov/pubmed/23529637", "http://www.ncbi.nlm.nih.gov/pubmed/11928729", "http://www.ncbi.nlm.nih.gov/pubmed/12508485", "http://www.ncbi.nlm.nih.gov/pubmed/24533195", "http://www.ncbi.nlm.nih.gov/pubmed/10215332", "http://www.ncbi.nlm.nih.gov/pubmed/25400184", "http://www.ncbi.nlm.nih.gov/pubmed/26178548", "http://www.ncbi.nlm.nih.gov/pubmed/19194561", "http://www.ncbi.nlm.nih.gov/pubmed/16247647", "http://www.ncbi.nlm.nih.gov/pubmed/20924604" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013577", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004487", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009404", "http://www.disease-ontology.org/api/metadata/DOID:1184" ]

[ "Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13.", " prader-willi syndrome (pws) results from a deletion of the paternal genes in the region of chromosome 15q11-q13.", "Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13. ", " Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13." ]

[ "Prader-Willi syndrome" ]

[ " Prader-Willi syndrome (PWS) results from a deletion of the paternal genes in the region of chromosome 15q11-q13.", "In AS, the deletion occurs in the maternally inherited chromosome 15, while in PWS the deletion is found in the paternally inherited chromosome 15.", "In AS, the deletion occurs in the maternally inherited chromosome 15, while in PWS the deletion is found in the paternally inherited chromosome 15", "In AS, the deletion occurs in the maternally inherited chromosome 15, while in PWS the deletion is found in the paternally inherited chromosome 15.", "However, deletions in AS occur on the maternally inherited chromosome 15, and deletions in PWS occur on the paternally derived chromosome 15.", "This contrasts with the Prader-Willi syndrome (PWS) in which a similar deletion of the paternally contributed chromosome 15 is observed.", "However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, " ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/26713299", "http://www.ncbi.nlm.nih.gov/pubmed/1714232", "http://www.ncbi.nlm.nih.gov/pubmed/1985457", "http://www.ncbi.nlm.nih.gov/pubmed/2309781" ]

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[ "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002872", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D025063", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011218", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002901", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D017353" ]

[ "New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families." ]

[ "congenital insensitivity to pain", "CIP" ]

[ "The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception.", "Here we show that PRDM12 is a key regulator of sensory neuronal specification in Xenopus. Modeling of human PRDM12 mutations that cause hereditary sensory and autonomic neuropathy (HSAN) revealed remarkable conservation of the mutated residues in evolution.", "Transcriptional regulator PRDM12 is essential for human pain perception.", " New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. ", " However, the study of genetic disorders rendering individuals completely unable to feel pain offers hope. All causes of congenital painlessness affect nociceptors, evolutionarily conserved specialist neurons able to sense all type of tissue damage. The discovery of new genes essential for sensing pain (SCN11A, PRDM12, and CLTCL1) has provided unexpected insights into the biological mechanisms that drive distinct stages of nociception." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/25891934", "http://www.ncbi.nlm.nih.gov/pubmed/26005867", "http://www.ncbi.nlm.nih.gov/pubmed/26549885" ]

[]

[]

[ "Yes, histone H3.3 mutation in the codon for lysine 27 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." ]

[ "yes" ]

[ "PURPOSE: 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. We report a case of thalamic glioma with H3F3A K27M mutation, which was detected in both the primary tumor diagnosed as diffuse astrocytoma obtained during the first surgery and also in the tumor diagnosed as anaplastic astrocytoma obtained at the second surgery.", "CONCLUSION: This report demonstrates minute neuroradiological and pathological features of malignant transformation from thalamic low grade glioma with H3F3A K27M mutation.", "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.", "The pathological diagnosis was anaplastic oligodendroglioma, and we identified a mutation in histone H3.3 in the tumor specimen.", "CONCLUSIONS: Pediatric brainstem oligodendroglial tumors can include histone H3.3-mutated tumors and have a tendency to disseminate throughout the neuroaxis at the time of relapse.", "We highlight the genetic aberrations recently discovered in isocitrate dehydrogenase, alpha thalassemia/mental retardation syndrome X-linked, death-domain-associated protein, histone H3.3, and telomerase reverse transcriptase and discuss how these mutations lead to unexpected changes in the epigenetic landscape in gliomas.", "Particularly striking is the discovery of frequent histone H3.3 mutations in pediatric glioma, a particularly aggressive neoplasm that has long remained poorly understood", "Exon sequencing has identified a mutation in K27M of the histone H3.3 gene (H3F3A K27M and G34R/V) in about 20% of pediatric glioblastomas, but it remains to be seen whether these mutations can be considered specific for pediatric diffuse high-grade astrocytomas or also occur in other pediatric brain tumors", "The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression", "A lesson learned from the H3.3K27M mutation found in pediatric glioma: a new approach to the study of the function of histone modifications in vivo", "Pediatric glioblastoma multiforme (GBM) is rare, and there is a single study, a seminal discovery showing association of histone H3.3 and isocitrate dehydrogenase (IDH)1 mutation with a DNA methylation signature.", "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.", "Mutations in H3F3A, which encodes histone H3.3, commonly occur in pediatric glioblastoma.", "Somatic mutations of the H3F3A and HIST1H3B genes encoding the histone H3 variants, H3.3 and H3.1, were recently identified in high-grade gliomas arising in the thalamus, pons and spinal cord of children and young adults.", "K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.", "Recurrent mutations affecting the histone H3.3 residues Lys27 or indirectly Lys36 are frequent drivers of pediatric high-grade gliomas (over 30% of HGGs).", "Use of human embryonic stem cells to model pediatric gliomas with H3.3K27M histone mutation.", "Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1).", "Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/24997139", "http://www.ncbi.nlm.nih.gov/pubmed/22286061", "http://www.ncbi.nlm.nih.gov/pubmed/24229707", "http://www.ncbi.nlm.nih.gov/pubmed/25281433", "http://www.ncbi.nlm.nih.gov/pubmed/23429371", "http://www.ncbi.nlm.nih.gov/pubmed/25976256", "http://www.ncbi.nlm.nih.gov/pubmed/27392443", "http://www.ncbi.nlm.nih.gov/pubmed/25219808", "http://www.ncbi.nlm.nih.gov/pubmed/24691963", "http://www.ncbi.nlm.nih.gov/pubmed/23907119", "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/25200322", "http://www.ncbi.nlm.nih.gov/pubmed/24285547", "http://www.ncbi.nlm.nih.gov/pubmed/24622842", "http://www.ncbi.nlm.nih.gov/pubmed/27864305", "http://www.ncbi.nlm.nih.gov/pubmed/25525250", "http://www.ncbi.nlm.nih.gov/pubmed/23417712", "http://www.ncbi.nlm.nih.gov/pubmed/25773741" ]

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[ "http://www.uniprot.org/uniprot/H33_SPISO", "http://www.uniprot.org/uniprot/H33_VITVI", "http://www.uniprot.org/uniprot/H33_BOVIN", "http://www.uniprot.org/uniprot/H33_TETTS", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D005910", "http://www.uniprot.org/uniprot/H33_LOLMU", "http://www.uniprot.org/uniprot/H33_CHICK", "http://www.uniprot.org/uniprot/H33_MEDSA", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154", "http://www.uniprot.org/uniprot/H33_TRIPS", "http://www.uniprot.org/uniprot/H33_TOBAC", "http://www.uniprot.org/uniprot/H33_TETPY", "http://www.uniprot.org/uniprot/H33_XENLA", "https://www.nlm.nih.gov/cgi/mesh/2017/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001244", "http://www.uniprot.org/uniprot/H33_ARATH", "http://www.uniprot.org/uniprot/H33_XENTR" ]

[ "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae. Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing. Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan. Fkh1 and Fkh2 bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins. Instead, we show that Fkh1 and Fkh2 are required for the clustering of early origins and their association with the key initiation factor Cdc45 in G1 phase, suggesting that Fkh1 and Fkh2 selectively recruit origins to emergent replication factories. ", "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae. Fkh1 and Fkh2 are required for the clustering of early origins and their association with the key initiation factor Cdc45 in G1 phase. Fkh1 and Fkh2 selectively recruit origins to emergent replication factories. They both bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins.", "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae. Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan. Fkh1 and Fkh2 bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins. Here we describe the remaining two genes, fhl1 and fkh2, that code for proteins containing fork-head-associated domains (FHA) besides their FKHs. This may reflect a general feature of gene regulation in eukaryotes. ", "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae.", "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae. Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing. Fkh1 and Fkh2 bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins. Instead, we show that Fkh1 and Fkh2 are required for the clustering of early origins and their association with the key initiation factor Cdc45 in G1 phase, suggesting that Fkh1 and Fkh2 selectively recruit origins to emergent replication factories. Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan. ", "Instead, we show that Fkh1 and Fkh2 are required for the clustering of early origins and their association with the key initiation factor Cdc45 in G1 phase, suggesting that Fkh1 and Fkh2 selectively recruit origins to emergent replication factories. Fkh1 and Fkh2 bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins. Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing.", "Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing. Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan.", "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae. Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing." ]

[ "DNA replication" ]

[ "Forkhead transcription factors establish origin timing and long-range clustering in S. cerevisiae.", "Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing.", "Instead, we show that Fkh1 and Fkh2 are required for the clustering of early origins and their association with the key initiation factor Cdc45 in G1 phase, suggesting that Fkh1 and Fkh2 selectively recruit origins to emergent replication factories. Fkh1 and Fkh2 bind Fkh-activated origins, and interact physically with ORC, providing a plausible mechanism to cluster origins.", "Forkhead box O (FOXO) transcription factors have a conserved function in regulating metazoan lifespan. A key function in this process involves the regulation of the cell cycle and stress responses including free radical scavenging.", "We report that the deletion of both FKH genes impedes normal lifespan and stress resistance, particularly in stationary phase cells, which are non-responsive to caloric restriction. Conversely, increased expression of the FKHs leads to extended lifespan and improved stress response.", "This study establishes the FKHs role as evolutionarily conserved regulators of lifespan in yeast and identifies the APC as a novel component of this mechanism under certain conditions, likely through combined regulation of stress response, genomic stability, and cell cycle regulation.", "The genome of Schizosaccharomyces pombe has four genes that code for proteins containing fork-head domains (FKH), two of which have been characterised. Here we describe the remaining two genes, fhl1 and fkh2, that code for proteins containing fork-head-associated domains (FHA) besides their FKHs.", "Here we show that the yeast forkhead transcription factors, Fkh1p and Fkh2p, associate with the coding regions of active genes and influence, in opposing ways, transcriptional elongation and termination.", "Our results suggest that, in addition to their documented promoter function, Fkh1p and Fkh2p coordinate early transcription elongation and pre-mRNA processing. This may reflect a general feature of gene regulation in eukaryotes.", "Here we show that the yeast Forkhead transcription factors, Fkh1 and Fkh2, are global determinants of replication origin timing.", "The Saccharomyces cerevisiae Forkhead Box (FOX) proteins, Fkh1 and Fkh2, regulate diverse cellular processes including transcription, long-range DNA interactions during homologous recombination, and replication origin timing and long-range origin clustering." ]

[ "http://www.ncbi.nlm.nih.gov/pubmed/22438832", "http://www.ncbi.nlm.nih.gov/pubmed/12702877", "http://www.ncbi.nlm.nih.gov/pubmed/15777722", "http://www.ncbi.nlm.nih.gov/pubmed/22265405" ]

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