Antidote Project
Collection
Data and models generated within the Antidote Project (https://univ-cotedazur.eu/antidote)
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20 items
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55031181e9bde69634000014 | summary | Is Hirschsprung disease a mendelian or a multifactorial disorder? | [
"Coding sequence mutations in RET, GDNF, EDNRB, EDN3, and SOX10 are involved in the development of Hirschsprung disease. The majority of these genes was shown to be related to Mendelian syndromic forms of Hirschsprung's disease, whereas the non-Mendelian inheritance of sporadic non-syndromic Hirschsprung disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model."
] | [] | [
"Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes",
"In this study, we review the identification of genes and loci involved in the non-syndromic common form and syndromic Mendelian forms of Hirschsprung's disease. The majority of the identified genes are related to Mendelian syndromic forms of Hirschsprung's disease. The non-Mendelian inheritance of sporadic non-syndromic Hirschsprung's disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model",
"Coding sequence mutations in e.g. RET, GDNF, EDNRB, EDN3, and SOX10 lead to long-segment (L-HSCR) as well as syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). Furthermore, mutations in the RET gene are responsible for approximately half of the familial and some sporadic cases, strongly suggesting, on the one hand, the importance of non-coding variations and, on the other hand, that additional genes involved in the development of the enteric nervous system still await their discovery",
"For almost all of the identified HSCR genes incomplete penetrance of the HSCR phenotype has been reported, probably due to modifier loci. Therefore, HSCR has become a model for a complex oligo-/polygenic disorder in which the relationship between different genes creating a non-mendelian inheritance pattern still remains to be elucidated",
" Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes.",
" The inheritance of Hirschsprung disease is generally consistent with sex-modified multifactorial inheritance with a lower threshold of expression in males.",
"Hirschsprung disease (HSCR) is a multifactorial, non-mendelian disorder in which rare high-penetrance coding sequence mutations in the receptor tyrosine kinase RET contribute to risk in combination with mutations at other genes.",
"Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.",
"BACKGROUND: RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology.",
"In the etiology of Hirschsprung disease various genes play a role; these are: RET, EDNRB, GDNF, EDN3 and SOX10, NTN3, ECE1, Mutations in these genes may result in dominant, recessive or multifactorial patterns of inheritance.",
"Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.",
"The majority of the identified genes are related to Mendelian syndromic forms of Hirschsprung's disease",
"In the etiology of Hirschsprung disease various genes play a role; these are: RET, EDNRB, GDNF, EDN3 and SOX10, NTN3, ECE1, Mutations in these genes may result in dominant, recessive or multifactorial patterns of inheritance",
"On the basis of a skewed sex-ratio (M/F = 4/1) and a risk to relatives much higher than the incidence in the general population, HSCR has long been regarded as a sex-modified multifactorial disorder",
"The inheritance of Hirschsprung disease is generally consistent with sex-modified multifactorial inheritance with a lower threshold of expression in males",
"The non-Mendelian inheritance of sporadic non-syndromic Hirschsprung's disease proved to be complex; involvement of multiple loci was demonstrated in a multiplicative model"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/15829955",
"http://www.ncbi.nlm.nih.gov/pubmed/6650562",
"http://www.ncbi.nlm.nih.gov/pubmed/12239580",
"http://www.ncbi.nlm.nih.gov/pubmed/21995290",
"http://www.ncbi.nlm.nih.gov/pubmed/23001136",
"http://www.ncbi.nlm.nih.gov/pubmed/15617541",
"http://www.ncbi.nlm.nih.gov/pubmed/8896569",
"http://www.ncbi.nlm.nih.gov/pubmed/20598273"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:10487",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006627",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020412",
"http://www.disease-ontology.org/api/metadata/DOID:11372"
] |
55046d5ff8aee20f27000007 | list | List signaling molecules (ligands) that interact with the receptor EGFR? | [
"The 7 known EGFR ligands are: epidermal growth factor (EGF), betacellulin (BTC), epiregulin (EPR), heparin-binding EGF (HB-EGF), transforming growth factor-α [TGF-α], amphiregulin (AREG) and epigen (EPG)."
] | [
"epidermal growth factor",
"betacellulin",
"epiregulin",
"heparin-binding epidermal growth factor",
"transforming growth factor-α",
"amphiregulin",
"epigen"
] | [
"the epidermal growth factor receptor (EGFR) ligands, such as epidermal growth factor (EGF) and amphiregulin (AREG)",
" EGFR ligands epidermal growth factor (EGF), amphiregulin (AREG) and transforming growth factor alpha (TGFα)",
" EGFR and its ligand EGF ",
"Among EGFR ligands, heparin-binding EGF-like growth factor, TGF-α and Betacellulin (BTC) are produced in the tumor microenvironment of FDC-S at RNA level. ",
". Plasma amphiregulin (AR), epidermal growth factor (EGF), transforming growth factor-α, and heparin binding-EGF were assessed by ELISA in 45 chemorefractory mCRC patients",
"Among EGFR ligands, heparin-binding epidermal growth factor (HB-EGF)",
" Of the six known EGFR ligands, transforming growth factor alpha (TGFα) was expressed more highly in triple-negative breast tumors than in tumors of other subtypes.",
"the 7 known EGFR ligands (EGF, betacellulin, epiregulin, heparin-binding EGF, transforming growth factor-α [TGF-α], amphiregulin, and epigen) ",
"EGFR ligands based on the two affinity classes: EGF>HB-EGF>TGF-α>BTC>EPR>EPG>AR",
"In this article, however, we demonstrate that PEPD directly binds to and activates epidermal growth factor receptor (EGFR),",
"four EGFR ligands (AR, HB-EGF, TGF-α, and EREG) ",
"Epidermal growth factor (EGF) family peptides are ligands for the EGF receptor (EGFR). ",
"oluble amphiregulin (AR), transforming growth factor alpha (TGFα), neuregulin 2 beta, and epigen stimulate greater EGFR coupling to cell proliferation and DNA synthesis than do EGF, betacellulin, heparin-binding EGF-like growth factor, and epiregulin",
"Here, we demonstrate that histamine releases 2 EGFR ligands, amphiregulin and heparin-binding epidermal growth factor-like growth factor (HB-EGF), from airway epithelial cells.",
"mammalian EGFR ligands including EGF, TGF-α (TGFα), amphiregulin (AREG), heparin-binding EGF-like growth factor (HB-EGF), betacellulin, epiregulin, and epigen."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23959273",
"http://www.ncbi.nlm.nih.gov/pubmed/21514161",
"http://www.ncbi.nlm.nih.gov/pubmed/23787814",
"http://www.ncbi.nlm.nih.gov/pubmed/23888072",
"http://www.ncbi.nlm.nih.gov/pubmed/23821377",
"http://www.ncbi.nlm.nih.gov/pubmed/24124521",
"http://www.ncbi.nlm.nih.gov/pubmed/22260327",
"http://www.ncbi.nlm.nih.gov/pubmed/24204699",
"http://www.ncbi.nlm.nih.gov/pubmed/24323361",
"http://www.ncbi.nlm.nih.gov/pubmed/23089711",
"http://www.ncbi.nlm.nih.gov/pubmed/23399900",
"http://www.ncbi.nlm.nih.gov/pubmed/23382875",
"http://www.ncbi.nlm.nih.gov/pubmed/23729230",
"http://www.ncbi.nlm.nih.gov/pubmed/23212918",
"http://www.ncbi.nlm.nih.gov/pubmed/23099994",
"http://www.ncbi.nlm.nih.gov/pubmed/22247333"
] | [
{
"p": "http://purl.uniprot.org/core/encodedBy",
"s": "http://purl.uniprot.org/uniprot/Q9QX70",
"o": "http://linkedlifedata.com/resource/#_5139515837300022"
},
{
"p": "http://www.w3.org/2004/02/skos/core#prefLabel",
"s": "http://linkedlifedata.com/resource/#_5139515837300022",
"o": "Egfr"
},
{
"p": "http://www.w3.org/2004/02/skos/core#exactMatch",
"s": "http://purl.uniprot.org/intact/EBI-1256812",
"o": "http://purl.uniprot.org/uniprot/Q9QX70"
},
{
"p": "http://www.w3.org/2000/01/rdf-schema#label",
"s": "http://purl.uniprot.org/intact/EBI-1256812",
"o": "Egfr"
}
] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005154",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007176",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005488",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0042058",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D018773",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008024",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0045741",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007173",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0005006",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007175",
"http://www.uniprot.org/uniprot/EGFR_HUMAN",
"http://www.uniprot.org/uniprot/EGFR_CHICK"
] |
54e25eaaae9738404b000017 | yesno | Is the protein Papilin secreted? | [
"Yes, papilin is a secreted protein"
] | [
"yes"
] | [
"Using expression analysis, we identify three genes that are transcriptionally regulated by HLH-2: the protocadherin cdh-3, and two genes encoding secreted extracellular matrix proteins, mig-6/papilin and him-4/hemicentin. ",
"We found that mig-6 encodes long (MIG-6L) and short (MIG-6S) isoforms of the extracellular matrix protein papilin, each required for distinct aspects of DTC migration. Both MIG-6 isoforms have a predicted N-terminal papilin cassette",
"apilins are homologous, secreted extracellular matrix proteins which share a common order of protein domains. ",
"The TSR superfamily is a diverse family of extracellular matrix and transmembrane proteins, many of which have functions related to regulating matrix organization, cell-cell interactions and cell guidance. This review samples some of the contemporary literature regarding TSR superfamily members (e.g. F-spondin, UNC-5, ADAMTS, papilin, and TRAP) where specific functions are assigned to the TSR domains.",
"Papilins are extracellular matrix proteins ",
"Papilin is an extracellular matrix glycoprotein ",
" Collagen IV, laminin, glutactin, papilin, and other extracellular matrix proteins were made primarily by hemocytes and were secreted into the medium. ",
"A sulfated glycoprotein was isolated from the culture media of Drosophila Kc cells and named papilin."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/3320045",
"http://www.ncbi.nlm.nih.gov/pubmed/7515725",
"http://www.ncbi.nlm.nih.gov/pubmed/20805556",
"http://www.ncbi.nlm.nih.gov/pubmed/19297413",
"http://www.ncbi.nlm.nih.gov/pubmed/19724244",
"http://www.ncbi.nlm.nih.gov/pubmed/15094122",
"http://www.ncbi.nlm.nih.gov/pubmed/12666201",
"http://www.ncbi.nlm.nih.gov/pubmed/21784067",
"http://www.ncbi.nlm.nih.gov/pubmed/11076767",
"http://www.ncbi.nlm.nih.gov/pubmed/15094110"
] | [] | [] |
535d292a9a4572de6f000003 | yesno | Are long non coding RNAs spliced? | [
"Long non coding RNAs appear to be spliced through the same pathway as the mRNAs"
] | [
"yes"
] | [
"Our analyses indicate that lncRNAs are generated through pathways similar to that of protein-coding genes, with similar histone-modification profiles, splicing signals, and exon/intron lengths.",
"For alternative exons and long noncoding RNAs, splicing tends to occur later, and the latter might remain unspliced in some cases.",
"bosome-mapping data to identify lncRNAs of Caenorhabditis elegans. We found 170 long intervening ncRNAs (lincRNAs), which had single- or multiexonic structures that did not overlap protein-coding transcripts, and about sixty antisense lncRNAs (ancRNAs), which were complementary to protein-coding transcripts",
"We introduce an approach to predict spliced lncRNAs in vertebrate genomes combining comparative genomics and machine learning.",
"Owing to similar alternative splicing pattern to mRNAs, the concept of lncRNA genes was put forward to help systematic understanding of lncRNAs. ",
"Our synthesis of recent studies suggests that neither size, presence of a poly-A tail, splicing, direction of transcription, nor strand specificity are of importance to lncRNA function."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/22955988",
"http://www.ncbi.nlm.nih.gov/pubmed/22955974",
"http://www.ncbi.nlm.nih.gov/pubmed/24285305",
"http://www.ncbi.nlm.nih.gov/pubmed/22707570",
"http://www.ncbi.nlm.nih.gov/pubmed/21622663",
"http://www.ncbi.nlm.nih.gov/pubmed/24106460"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012326",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D062085"
] |
55262a9787ecba3764000009 | yesno | Is RANKL secreted from the cells? | [
"Receptor activator of nuclear factor κB ligand (RANKL) is a cytokine predominantly secreted by osteoblasts."
] | [
"yes"
] | [
"Osteoprotegerin (OPG) is a soluble secreted factor that acts as a decoy receptor for receptor activator of NF-κB ligand (RANKL) ",
"Osteoprotegerin (OPG) is a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily. It usually functions in bone remodeling, by inhibiting osteoclastogenesis through interaction with a receptor activator of the nuclear factor κB (RANKL).",
"e RANKL/OPG ratio secreted by osteoblasts increased and RANK expression by osteoclasts increased, leading to increased osteoclastogenesis",
"Osteoprotegerin (OPG) is an essential secreted protein in bone turnover due to its role as a decoy receptor for the Receptor Activator of Nuclear Factor-kB ligand (RANKL) in the osteoclasts, thus inhibiting their differentiation",
"We identify a TNFSF11 transcript variant that extends the originally identified transcript encoding secreted RANKL.",
"Activated human T cells express alternative mRNA transcripts encoding a secreted form of RANKL.",
"OPG, on the other hand, is secreted by osteoblast as a decoy receptor for RANKL, prevents RANKL from binding to RANK and thus prevents bone resorption",
"Receptor activator of nuclear factor κB ligand (RANKL) and osteoprotegerin (OPG) are cytokines predominantly secreted by osteoblasts and play a central role in differentiation and functional activation of osteoclasts",
"Although B. abortus-activated T cells actively secreted the pro-osteoclastogenic cytokines RANKL and IL-17, osteoclastogenesis depended on IL-17, because osteoclast generation induced by Brucella-activated T cells was completely abrogated when these cells were cultured with BMMs from IL-17 receptor knockout mice. ",
" osteoclastogenesis and bone destruction in autoimmune arthritis. We isolated human fibroblasts from RA, pyrophosphate arthropathy (PPA) and osteoarthritis (OA) patients and analyzed their RANKL/OPG expression profile and the capacity of their secreted factors to induce osteoclastogenesis.",
"Osteoprotegerin (OPG) and receptor activator of nuclear factor κB ligand (RANKL) are cytokines predominantly secreted by osteoblasts and play critical roles in the differentiation and function of osteoclasts. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/22948539",
"http://www.ncbi.nlm.nih.gov/pubmed/23698708",
"http://www.ncbi.nlm.nih.gov/pubmed/23827649",
"http://www.ncbi.nlm.nih.gov/pubmed/22901753",
"http://www.ncbi.nlm.nih.gov/pubmed/21618594",
"http://www.ncbi.nlm.nih.gov/pubmed/23835909",
"http://www.ncbi.nlm.nih.gov/pubmed/23632157",
"http://www.ncbi.nlm.nih.gov/pubmed/24265865",
"http://www.ncbi.nlm.nih.gov/pubmed/24267510",
"http://www.ncbi.nlm.nih.gov/pubmed/22867712"
] | [] | [
"http://www.uniprot.org/uniprot/TNF11_RAT",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015870",
"http://www.uniprot.org/uniprot/TNF11_HUMAN"
] |
51406e6223fec90375000009 | yesno | Does metformin interfere thyroxine absorption? | [
"There are not reported data indicating that metformin interferes with thyroxine absorption"
] | [
"no"
] | [] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23264396",
"http://www.ncbi.nlm.nih.gov/pubmed/21633823",
"http://www.ncbi.nlm.nih.gov/pubmed/23554450",
"http://www.ncbi.nlm.nih.gov/pubmed/23244059",
"http://www.ncbi.nlm.nih.gov/pubmed/21041167",
"http://www.ncbi.nlm.nih.gov/pubmed/21748540",
"http://www.ncbi.nlm.nih.gov/pubmed/23072197",
"http://www.ncbi.nlm.nih.gov/pubmed/21468525",
"http://www.ncbi.nlm.nih.gov/pubmed/23154888",
"http://www.ncbi.nlm.nih.gov/pubmed/21435090"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013974",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008687",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000042"
] |
553fa78b1d53b76422000007 | list | Which miRNAs could be used as potential biomarkers for epithelial ovarian cancer? | [
"miR-200a, miR-100, miR-141, miR-200b, miR-200c, miR-203, miR-510, miR-509-5p, miR-132, miR-26a, let-7b, miR-145, miR-182, miR-152, miR-148a, let-7a, let-7i, miR-21, miR-92 and miR-93 could be used as potential biomarkers for epithelial ovarian cancer."
] | [
"let-7a",
"let-7b",
"let-7i",
"miR-21",
"miR-26a",
"miR-92",
"miR-93",
"miR-100",
"miR-132",
"miR-141",
"miR-145",
"miR-148a",
"miR-152",
"miR-182",
"miR-200a",
"miR-200b",
"miR-200c",
"miR-203",
"miR-509-5p",
"miR-510"
] | [
"Finally, five promising differentially miRNAs (miR-200a, miR-100, miR-141, miR-200b, and miR-200c) were reported with the consistent direction in four or more studies. MiR-200a, miR-200b, miR-200c, and miR-141, all of them belong to miR-200 family, were reported with consistently up-regulated in at least 4 studies, whereas miR-100 was reported with down-regulated in 4 studies",
"Upregulation of microRNA-203 is associated with advanced tumor progression and poor prognosis in epithelial ovarian cancer",
"multivariate analysis showed that the status of miR-203 expression was an independent predictor for both overall survival and progression-free survival in EOC. These findings provide the convincing evidence for the first time that the upregulation of miR-203 may serve as a novel molecular marker to predict the aggressive tumor progression and unfavorable prognosis of EOC patients",
"Some, but not all, of the data indicated that the miR-200 family was dysregulated in a variety of malignancies. In this study, we demonstrated that miR-200a and E-cadherin were significantly upregulated in EOC compared to benign epithelial ovarian cysts and normal ovarian tissues",
"There was a significantly positive correlation between miR-200a and E-cadherin in EOC. The biphasic expression pattern suggested that miR-200a levels may serve as novel biomarkers for the early detection of EOC, and miR-200a and E-cadherin are candidate targets for the development of new treatment modalities against ovarian cancer",
"Kaplan-Meier analysis showed low miR-510 expression, low miR-509-5p expression, and advanced FIGO stage, and chemotherapy resistance were significantly associated with poorer overall survival (P < 0.05). Our results suggest that miRNAs may play a role in the progression of OSC, and miR-510 and miR-509-5p may be considered novel-candidate clinical biomarkers for predicting OSC outcome",
"The qRT-PCR results showed that miR-510, miR-509-5p, and miR-508-3p were significantly downregulated and that miR-483-5p was upregulated in stage III OSC compared with stage I, which was consistent with the microarray results",
"In this study, we examined serum miR-21 levels in epithelial ovarian cancer (EOC) patients, and explored its association with clinicopathological factors and prognosis. The results showed significantly higher serum miR-21 levels in EOC patients than in healthy controls. In addition, increased serum miR-21 expression was correlated with advanced FIGO stage, high tumor grade, and shortened overall survival. These findings indicate that serum miR-21 may serve as a novel diagnostic and prognostic marker, and be used as a therapeutic target for the treatment of EOC",
"Identification of serum microRNA-21 as a biomarker for early detection and prognosis in human epithelial ovarian cancer",
"Serum miR-132, miR-26a, let-7b, and miR-145 could be considered as potential candidates as novel biomarkers in serous ovarian cancer.",
"Among the miRNAs that showed a consistent regulation tendency through all specimens and showed more than a 2-fold difference in serum, 5 miRNAs (miR-132, miR-26a, let-7b, miR-145, and miR-143) were determined as the 5 most markedly down-regulated miRNAs in the serum from ovarian cancer patients with respect to those of controls. Four miRNAs (miR-132, miR-26a, let-7b, and miR-145) out of 5 selected miRNAs were significantly underexpressed in the serum of ovarian cancer patients in qRT-PCR",
" microRNA (miR)-182, miR-200a, miR-200b and miR-200c were highly overexpressed in the SEOC cell lines relative to normal human ovarian surface epithelial cells and were assessed in RNA extracted from serum as candidate biomarkers",
"Together, these results suggest that low miR-100 expression may be an independent poor prognostic factor and miR-100 can function as a tumor suppressor by targeting PLK1 in human EOCs",
"Prognostic implications of microRNA-100 and its functional roles in human epithelial ovarian cancer",
"Taken together, miR-152 and miR-148a may be involved in the carcinogenesis of ovarian cancer through deregulation of cell proliferation. They may be novel biomarkers for early detection or therapeutic targets of ovarian cancer",
"MicroRNA let-7a: a potential marker for selection of paclitaxel in ovarian cancer management",
" The study suggests that the beneficial impact of the addition of paclitaxel on EOC survival was significantly linked to let-7a levels, and that miRNAs such as let-7a may be a useful marker for selection of chemotherapeutic agents in EOC management",
"miR-200c has potential as a predictor of survival, and is a biomarker of relapse, in stage I EOC",
"MicroRNA microarray identifies Let-7i as a novel biomarker and therapeutic target in human epithelial ovarian cancer",
" our results strongly suggest that let-7i might be used as a therapeutic target to modulate platinum-based chemotherapy and as a biomarker to predict chemotherapy response and survival in patients with ovarian cancer",
"miRNAs-21, 92 and 93 are known oncogenes with therapeutic and biomarker potential",
"Serum miR-132, miR-26a, let-7b, and miR-145 could be considered as potential candidates as novel biomarkers in serous ovarian cancer"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21345725",
"http://www.ncbi.nlm.nih.gov/pubmed/22246341",
"http://www.ncbi.nlm.nih.gov/pubmed/23888941",
"http://www.ncbi.nlm.nih.gov/pubmed/23836287",
"http://www.ncbi.nlm.nih.gov/pubmed/23542579",
"http://www.ncbi.nlm.nih.gov/pubmed/23978303",
"http://www.ncbi.nlm.nih.gov/pubmed/20035894",
"http://www.ncbi.nlm.nih.gov/pubmed/19074899",
"http://www.ncbi.nlm.nih.gov/pubmed/21571355",
"http://www.ncbi.nlm.nih.gov/pubmed/18954897",
"http://www.ncbi.nlm.nih.gov/pubmed/23918241",
"http://www.ncbi.nlm.nih.gov/pubmed/21971665",
"http://www.ncbi.nlm.nih.gov/pubmed/23272653",
"http://www.ncbi.nlm.nih.gov/pubmed/23621186"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D035683",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015415",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D010051",
"http://www.disease-ontology.org/api/metadata/DOID:2394"
] |
5149199dd24251bc05000040 | list | Which acetylcholinesterase inhibitors are used for treatment of myasthenia gravis? | [
"Pyridostigmine and neostygmine are acetylcholinesterase inhibitors that are used as first-line therapy for symptomatic treatment of myasthenia gravis. Pyridostigmine is the most widely used acetylcholinesterase inhibitor. Extended release pyridotsygmine and novel acetylcholinesterase inhibitors inhibitors with oral antisense oligonucleotides are being studied."
] | [
"neostigmine",
"pyridostigmine"
] | [
"Pyridostigmine is the most widely used acetylcholinesterase inhibitor.",
"For more than 50 years the acetylcholinesterase inhibitor pyridostigmine bromide has been the drug of choice in the symptomatic therapy for myasthenia gravis. ",
"The switch to SR-Pyr ameliorated the total quantified myasthenia gravis (QMG) score from 0.9 ± 0.5 to 0.6 ± 0.4 (p<0.001) in all patients and in the younger subgroup. This was accompanied by a significant improvement in the quality of life parameters. The health status valued by EuroQoL questionnaire improved from 0.626 ± 0.286 to 0.782 ± 0.186 (p<0.001). ",
"Our results support the usefulness of SR-Pyr in an individualized therapeutic regimen to improve quality of life regardless of the patient's age in myasthenia gravis.",
"This review focuses on treatment of MG, mainly on the use of the AChE inhibitor pyridostigmine.",
"Despite a lack of data from well controlled clinical trials to support their use, AChE inhibitors, of which pyridostigmine is the most commonly used, are recommended as first-line therapy for MG. ",
"Novel AChE inhibitors with oral antisense oligonucleotides have been developed and preliminary results appear to be promising.",
"Except for one small and inconclusive trial of intranasal neostigmine, no randomised controlled trial has been conducted on the use of acetylcholinesterase inhibitors in myasthenia gravis. Response to acetylcholinesterase inhibitors in observational studies is so clear that a randomised controlled trial depriving participants in the placebo arm of treatment would be difficult to justify.",
" Current guidelines and recommendations for MG treatment are based largely on clinical experience, retrospective analyses and expert consensus. Available therapies include oral acetylcholinesterase (AChE) inhibitors for symptomatic treatment, and short- and long-term disease-modifying treatments.",
"Pyridostigmine has been used as a treatment for MG for over 50 years and is generally considered safe. It is suitable as a long-term treatment in patients with generalized non-progressive milder disease, and as an adjunctive therapy in patients with severe disease who are also receiving immunotherapy. ",
"Acetylcholinesterase inhibitors provide temporary, symptomatic treatment for all forms of myasthenia gravis. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21815707",
"http://www.ncbi.nlm.nih.gov/pubmed/21845054",
"http://www.ncbi.nlm.nih.gov/pubmed/21328290",
"http://www.ncbi.nlm.nih.gov/pubmed/20663605",
"http://www.ncbi.nlm.nih.gov/pubmed/21133188",
"http://www.ncbi.nlm.nih.gov/pubmed/15610702"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D000110",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009157",
"http://www.disease-ontology.org/api/metadata/DOID:437",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002800",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004791"
] |
52bf1db603868f1b06000011 | yesno | Has Denosumab (Prolia) been approved by FDA? | [
"Yes, Denosumab was approved by the FDA in 2010."
] | [
"yes"
] | [
"Denosumab is a RANK-ligand antibody that was approved by the FDA in 2010 for the prevention of skeletal fractures in patients with bone metastases from solid tumors.",
" The authors present the imaging findings and technical report of an attempted percutaneous vertebroplasty in the only patient found to be actively under treatment with denosumab after a retrospective review of the databank of patients with pathological fractures referred to the Department Radiology of the Ohio State University for percutaneous vertebroplasty (a total sample of 20 patients) since the FDA approval of denosumab (November 2010) until June of 2013 (a 30-month period).",
"On the basis of this data, the FDA approved denosumab for the treatment of patients whose GCTB is unresectable, or when surgery is likely to result in severe morbidity.",
"Denosumab (Prolia®) is a fully human monoclonal antibody for RANKL, which selectively inhibits osteoclastogenesis, being recently approved for the treatment of postmenopausal osteoporosis in women at a high or increased risk of fracture by the FDA in the United Sates and by the European Medicines Agency in Europe since June 2010.",
"Recent phase II clinical trials with denosumab in skeletally mature adolescents over age 12 years and adults with GCTB, have shown both safety and efficacy, leading to its accelerated US FDA approval on 13 June 2013. ",
"Zoledronic acid (ZA), an intravenously administered bisphosphonate, and Denosumab, a subcutaneously administered inhibitor of nuclear factor B ligand (RANKL), have already been approved by Food and Drug Administration (FDA) for their use in treatment of bone metastases.",
"These results led to the approval of denosumab by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA), for the prevention of SREs in adults with bone metastases from solid tumors, including breast cancer.",
"Alendronate, risedronate, zoledronic acid, denosumab, and teriparatide are Food and Drug Administration (FDA)-approved therapeutic options. ",
"Several of these therapies have recently been approved by the FDA to treat bone cancer pain (bisphosphonates, denosumab) and others are currently being evaluated in human clinical trials (tanezumab).",
"A fourth agent, denosumab (bone targeted therapy) was also recently approved by the FDA for patients with bone metastasis after showing a reduction in the occurrence of skeletal-related events. ",
"AHRQ published an updated review in March 2012 that summarized the benefits and risks of osteoporosis medications in treatment and prevention of osteoporosis, including bisphosphonates (aledronate, risedronate, ibandronate, zoledronic acid), parathyroid hormone, teriparatide, calcitonin, estrogens (for prevention in postmenopausal women), selective estrogen receptor modulators (raloxifene), and denosumab(approved by the FDA in 2010). ",
"Four new drugs have received U.S. Food and Drug Administration (FDA)-approval in 2010 and 2011: sipuleucel-T, an immunotherapeutic agent; cabazitaxel, a novel microtubule inhibitor; abiraterone acetate, a new androgen biosynthesis inhibitor; and denosumab, a bone-targeting agent. ",
"Recently, the US FDA and the EMA approved denosumab (a fully human monoclonal antibody) to treat skeletal-related events in bone-metastatic prostate cancer.",
"In addition to these new and emerging therapeutic agents, denosumab was approved for the prevention of skeletal complications in patients with bone metastases due to solid tumor malignancies, providing an alternative to zoledronic acid. ",
"Recently, denosumab was FDA-approved for prevention of SREs in patients with bone metastases from solid tumors. ",
"In the 2010s to date, an additional 3 antibodies (denosumab, belimumab, ipilimumab) have been approved and one antibody-drug conjugate (brentuximab vedotin) is undergoing regulatory review and may be approved in the US by August 30, 2011.",
"We also review the evidence supporting the FDA's approval of denosumab (bone-targeted therapy) as a treatment option for men with CRPC and bony metastases. ",
" It has been approved for clinical use by the FDA in the US and by the European Medicines Agency in Europe since June 2010 (trade name Prolia(™), Amgen, Thousand Oaks, CA, USA). ",
"The fully human monoclonal antibody denosumab (Prolia(®)) has been recently approved by the European Medical Agency (EMEA) and the Food and Drug Administration (FDA) for the treatment of postmenopausal osteoporosis. ",
"Raloxifene and denosumab are only FDA approved for postmenopausal osteoporosis.",
"The new antiresorptive drug, denosumab, although FDA-approved only for postmenopausal women, has been shown in a study of men on ADT to increase bone density in spine, hip, and forearm and decrease vertebral fractures on x-ray. ",
" Since then, an additional six human mAbs have received FDA approval: panitumumab, golimumab, canakinumab, ustekinumab, ofatumumab and denosumab. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/24126422",
"http://www.ncbi.nlm.nih.gov/pubmed/22826702",
"http://www.ncbi.nlm.nih.gov/pubmed/23759273",
"http://www.ncbi.nlm.nih.gov/pubmed/21785279",
"http://www.ncbi.nlm.nih.gov/pubmed/21113693",
"http://www.ncbi.nlm.nih.gov/pubmed/21129866",
"http://www.ncbi.nlm.nih.gov/pubmed/23956508",
"http://www.ncbi.nlm.nih.gov/pubmed/22716221",
"http://www.ncbi.nlm.nih.gov/pubmed/23757624",
"http://www.ncbi.nlm.nih.gov/pubmed/23367751",
"http://www.ncbi.nlm.nih.gov/pubmed/22074657",
"http://www.ncbi.nlm.nih.gov/pubmed/21170699",
"http://www.ncbi.nlm.nih.gov/pubmed/21942303",
"http://www.ncbi.nlm.nih.gov/pubmed/24114694",
"http://www.ncbi.nlm.nih.gov/pubmed/22540167",
"http://www.ncbi.nlm.nih.gov/pubmed/24308016",
"http://www.ncbi.nlm.nih.gov/pubmed/21208140",
"http://www.ncbi.nlm.nih.gov/pubmed/23652187",
"http://www.ncbi.nlm.nih.gov/pubmed/21470540",
"http://www.ncbi.nlm.nih.gov/pubmed/24316116",
"http://www.ncbi.nlm.nih.gov/pubmed/20811384"
] | [
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}
] | [
"http://www.biosemantics.org/jochem#4268082"
] |
5709e4b2cf1c32585100001c | list | List the human genes encoding for the dishevelled proteins? | [
"DVL-1\nDVL-2\nDVL-3"
] | [
"DVL-1",
"DVL-2",
"DVL-3"
] | [
"Dishevelled (Dvl/Dsh) is a multi-module protein and a key regulator of both the canonical Wnt and the PCP pathway. In mouse, all Dvl1(-/-) ; Dvl2(-/-) double mutants display craniorachischisis, a severe form of open NTDs. ",
" In this study, we explore the cause of HSCR by studying the expression of DVL-1 and DVL-3 genes and their proteins in the aganglionic segment and the ganglionic segment of colon in HSCR patients.",
"Dishevelled (Dvl) proteins are key transducers of Wnt signaling encoded by members of a multi-gene family in vertebrates. We report here the divergent, tissue-specific expression patterns for all three Dvl genes in Xenopus embryos, which contrast dramatically with their expression patterns in mice.",
"velopmental processes, including segmentation and neuroblast specification. We have isolated and characterized cDNA clones from two different human dsh-homologous genes, designated as DVL-1 and DVL-3. ",
"In the Drosophila embryo dishevelled (dsh) function is required by target cells in order to respond to wingless (wg, the homolog of Wnt-1), demonstrating a role for dsh in Wnt signal transduction. We have isolated a mouse homolog of the Drosophila dsh segment polarity gene. The 695-amino-acid protein encoded by the mouse dishevelled gene (Dvl-1) shares 50% identity (65% similarity) with dsh.",
"The Dvl-1 gene on chromosome 1p36 belongs to a family of highly conserved secreted proteins which regulates embryonic induction, generation of cell polarity and specification of cell fate through activation of Wnt signaling pathways. Wnt signaling activates the gene encoding DVL-1;",
"We report here that the mouse Dishevelled-1 (Dvl-1) and Dishevelled-2 genes encode proteins that are differentially localized in Wnt-overexpressing PC12 cell lines (PC12/Wnt). ",
"Recently, the DVL1 gene was identified as a middle molecule of the Wnt/beta-catenin signaling pathway. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/12883684",
"http://www.ncbi.nlm.nih.gov/pubmed/24040443",
"http://www.ncbi.nlm.nih.gov/pubmed/19618470",
"http://www.ncbi.nlm.nih.gov/pubmed/8817329",
"http://www.ncbi.nlm.nih.gov/pubmed/8856345",
"http://www.ncbi.nlm.nih.gov/pubmed/23836490",
"http://www.ncbi.nlm.nih.gov/pubmed/8149913",
"http://www.ncbi.nlm.nih.gov/pubmed/7958461",
"http://www.ncbi.nlm.nih.gov/pubmed/16457155"
] | [] | [] |
56bc751eac7ad10019000013 | factoid | Name synonym of Acrokeratosis paraneoplastica. | [
"Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most commonly associated with carcinomas of the upper aerodigestive tract."
] | [
"Bazex syndrome"
] | [
"Acrokeratosis paraneoplastica of Bazex is a rare but important paraneoplastic dermatosis, usually manifesting as psoriasiform rashes over the acral sites.",
"[Paraneoplastic palmoplantar hyperkeratosis. Minor form of acrokeratosis neoplastica Bazex?].",
"Acrokeratosis paraneoplastica Bazex is a rare, obligate paraneoplasia initially presenting with palmoplantar hyperkeratosis. ",
"We diagnosed a minor form of acrokeratosis paraneoplastica Bazex. ",
"Acrokeratosis paraneoplastica (Bazex syndrome): report of a case associated with small cell lung carcinoma and review of the literature.",
"Acrokeratosis paraneoplastic (Bazex syndrome) is a rare, but distinctive paraneoplastic dermatosis characterized by erythematosquamous lesions located at the acral sites and is most commonly associated with carcinomas of the upper aerodigestive tract. ",
"Bazex syndrome (acrokeratosis paraneoplastica): persistence of cutaneous lesions after successful treatment of an associated oropharyngeal neoplasm.",
"Acrokeratosis paraneoplastica Bazex syndrome associated with esophageal squamocellular carcinoma.",
"BACKGROUND: Acrokeratosis paraneoplastica Bazex (APB) is a very rare disease in the group of obligate paraneoplastic dermatoses, associated mostly with squamous cell carcinoma of the upper aerodigestive tract and metastatic cervical lymphadenopathy. ",
"Acrokeratosis paraneoplastica (Bazex' syndrome).",
"Acrokeratosis paraneoplastica (first described by Gougerot and Rupp in 1922) was named after Bazex who had then reported several cases in a French dermatological journal since 1965 (Bazex et al. in Bull Soc Fr Dermatol Syphiligr 72:182, 1965; Bazex and Griffiths in Br J Dermatol 102:301-306, 1980).METHOD: The study is a clinical case of a patient with acrokeratosis paraneoplastica.RESULTS: the patient was later diagnosed with a cervical lymph node metastasis and thereafter with a primary squamous cell carcinoma of the left upper lobe and upon treatment responded with the clearing of the skin changes.CONCLUSION: Identification of a paraneoplastic syndrome may enhance the earlier diagnosis of the associated tumor and may thus enable curative treatment.",
"Acrokeratosis paraneoplastica (Bazex's syndrome): association with liposarcoma.",
"Acrokeratosis paraneoplastica of Bazex as an indicator for underlying squamous cell carcinoma of the lung.",
"Acrokeratosis paraneoplastica (Bazex syndrome) with oropharyngeal squamous cell carcinoma.",
"Acrokeratosis paraneoplastica of Bazex: report of a case in a young black woman.",
"Acrokeratosis paraneoplastica of Bazex.",
"Acrokeratosis paraneoplastica (first described by Gougerot and Rupp in 1922) was named after Bazex who had then reported several cases in a French dermatological journal since 1965 (Bazex et al.",
"Acrokeratosis paraneoplastica: Bazex syndrome.",
"Bazex syndrome: acrokeratosis paraneoplastica.",
"Acrokeratosis paraneoplastica (Bazex' syndrome) is a rare but clinically distinctive dermatosis that has been associated in all reported cases, to our knowledge, with either a primary malignant neoplasm of the upper aerodigestive tract or metastatic cancer to the lymph nodes of the neck. Acrokeratosis paraneoplastica was found in a 53-year-old black man with squamous cell carcinoma of the tonsil.",
"Bazex syndrome (acrokeratosis paraneoplastica) is a rare paraneoplastic syndrome that usually occurs in males over 40 years old and is particularly associated with squamous cell carcinoma of the upper aerodigestive tract and adenopathy above the diaphragm.The objectives of our article are (1) to describe a unique case of acrokeratosis paraneoplastica and (2) to review the current literature regarding skin findings, commonly associated neoplasms, and treatment options relative to this condition."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/3819049",
"http://www.ncbi.nlm.nih.gov/pubmed/18775590",
"http://www.ncbi.nlm.nih.gov/pubmed/22146896",
"http://www.ncbi.nlm.nih.gov/pubmed/6225397",
"http://www.ncbi.nlm.nih.gov/pubmed/18672707",
"http://www.ncbi.nlm.nih.gov/pubmed/7796616",
"http://www.ncbi.nlm.nih.gov/pubmed/16435144",
"http://www.ncbi.nlm.nih.gov/pubmed/7640201",
"http://www.ncbi.nlm.nih.gov/pubmed/22252191",
"http://www.ncbi.nlm.nih.gov/pubmed/17097409",
"http://www.ncbi.nlm.nih.gov/pubmed/17374318",
"http://www.ncbi.nlm.nih.gov/pubmed/22470801",
"http://www.ncbi.nlm.nih.gov/pubmed/8949310",
"http://www.ncbi.nlm.nih.gov/pubmed/1521479",
"http://www.ncbi.nlm.nih.gov/pubmed/1433123"
] | [] | [] |
54d4e03a3706e89528000001 | list | Which are the classes of anti-arrhythmic drugs according to Vaughan-Williams classification? | [
"Antiarrhythmic drugs can be divided into four Vaughan Williams classes (I-IV). Class I antiarrhythmic agents have as a common action, blockade of the sodium channels. Class II agents are antisympathetic drugs, particularly the beta-adrenoceptor blockers. Class-III antiarrhythmics have as a common action the potassium-channel blockade. Class IV antiarrhythmic drugs are calcium channel blockers."
] | [
"Class I: sodium channel blockers",
"ClassII: beta blockers",
"Class III: potassium channel blockers",
"Class IV: calcium channel blockers"
] | [
"Class II agents are antisympathetic drugs, particularly the beta-adrenoceptor blockers",
"Class III antiarrhythmic agents include sotalol and amiodarone.",
"Class IV antiarrhythmic drugs are the calcium channel blockers verapamil and diltiazem. ",
"Other agents which do not fall neatly into the Vaughan Williams classification include digoxin and perhexiline.",
"Antiarrhythmic drugs can be divided into four Vaughan Williams classes (I-IV) according to defined electrophysiological effects on the myocardium.",
"Thus, the Vaughan Williams classification also coincides with the main myocardial targets of the antiarrhythmics, i.e., myocardial sodium-, potassium-, and calcium-channels or beta-adrenergic receptors. ",
"The sodium-channel blockade induced by class-I substances is enhanced with increasing heart rates. Thus, class-I antiarrhythmics can be subclassified as substances showing a more exponential, an approximately linear, or rather saturated block-frequency relation.",
"Class-III antiarrhythmics (potassium-channel blockade) can be further differentiated according to the component of the delayed rectifier potassium current (IK) which is inhibited by a drug. ",
"Class-III substances inhibiting the slowly activating IKs component are currently under investigation and are expected to show a direct rate dependence.",
"Antiarrhythmic agents are traditionally classified according to Vaughan Williams into four classes of action. Class I antiarrhythmic agents include most of the drugs traditionally thought of as antiarrhythmics, and have as a common action, blockade of the fast-inward sodium channel on myocardium. ",
"Antiarrhythmic drugs can be divided into four Vaughan Williams classes (I-IV) according to defined electrophysiological effects on the myocardium",
"The classification of antiarrhythmic agents according to Vaughan Williams is based on electrophysiological findings in isolated heart muscle and defines four classes of drug actions.",
"Antiarrhythmic agents are traditionally classified according to Vaughan Williams into four classes of action. Class I antiarrhythmic agents include most of the drugs traditionally thought of as antiarrhythmics, and have as a common action, blockade of the fast-inward sodium channel on myocardium.",
"Class II agents are antisympathetic drugs, particularly the b-adrenoceptor blockers.",
"Class III antiarrhythmic agents include sotalol and amiodarone. ",
"Class IV antiarrhythmic drugs are the calcium channel blockers verapamil and diltiazem. ",
"These are classified according to their electrophysiological effects observed in isolated cardiac tissues in vitro (Vaughan Williams, 1989). Fast sodium channel blockers (class I) which reduce the upstroke velocity of the action potential are usually subclassified into three groups, class I A-C, according to their effect on the action potential duration. Beta-adrenergic antagonists (class II) exert their effects by antagonizing the electrophysiological effects of beta-adrenergic catecholamines. Class III antiarrhythmic agents (eg amiodarone) prolong the action potential and slow calcium channel blockers (class IV) suppress the calcium inward current and calcium-dependent action potentials. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/9803978",
"http://www.ncbi.nlm.nih.gov/pubmed/11564050",
"http://www.ncbi.nlm.nih.gov/pubmed/1290288",
"http://www.ncbi.nlm.nih.gov/pubmed/7875632",
"http://www.ncbi.nlm.nih.gov/pubmed/10810787"
] | [] | [] |
55072c803b8a5dc045000001 | list | Which are the different isoforms of the mammalian Notch receptor? | [
"Notch signaling is an evolutionarily conserved mechanism, used to regulate cell fate decisions. Four Notch receptors have been identified in man: Notch-1, Notch-2, Notch-3 and Notch-4."
] | [
"Notch-1",
"Notch-2",
"Notch-3",
"Notch-4"
] | [
"Here, we investigate protein interactions between NOTCH3 and other vascular Notch isoforms and characterize the effects of elevated NOTCH3 on smooth muscle gene regulation. We demonstrate that NOTCH3 forms heterodimers with NOTCH1, NOTCH3, and NOTCH4.",
"We conclude that CADASIL mutants of NOTCH3 complex with NOTCH1, 3, and 4, slow NOTCH3 clearance, and that overexpressed wild type and mutant NOTCH3 protein interfere with key NOTCH-mediated functions in smooth muscle cells.",
"In the vertebrate embryo, skeletal muscle is derived from the myotome of the somites. Notch1-3 demonstrate overlapping and distinct expression patterns in mouse somites. Notch1 and Notch2 have been shown to be inhibitors of skeletal myogenesis. ",
"In this study, we analyzed the immunohistochemical staining pattern of four Notch receptors (Notch1-4) and their ligands (Delta1 and Jagged1) in 14 synovial tissues obtained from 14 RA patients. ",
"Notch signaling is an evolutionarily conserved mechanism, used to regulate cell fate decisions. Four Notch receptors have been identified in man (Notch-1 to -4).",
"All 4 receptors were expressed in the adult liver, with no significant differences in the levels of Notch-1, -2, and -4 messenger RNA (mRNA) between normal and diseased liver. However, Notch-3 expression appeared to be increased in diseased tissue. ",
"We studied the immunohistochemical expression of NOTCH2 and its isoforms NOTCH1, NOTCH3, and NOTCH4 and the NOTCH2 primary ligand JAGGED1 in hepatoblastomas.",
"There are four different mammalian Notch receptors that can be activated by five cell surface ligands",
"There are four mammalian Notch receptors that have only partially overlapping functions despite sharing similar structures and ligands."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23028706",
"http://www.ncbi.nlm.nih.gov/pubmed/21639801",
"http://www.ncbi.nlm.nih.gov/pubmed/11532344",
"http://www.ncbi.nlm.nih.gov/pubmed/22842086",
"http://www.ncbi.nlm.nih.gov/pubmed/21356309",
"http://www.ncbi.nlm.nih.gov/pubmed/11732008",
"http://www.ncbi.nlm.nih.gov/pubmed/16307184"
] | [] | [] |
53061af558348c0f52000002 | list | Which are the major characteristics of cellular senescence? | [
"The defining characteristics of cellular senescence are altered morphology, arrested cell-cycle progression, development of aberrant gene expression with proinflammatory behavior, and telomere shortening."
] | [
"altered morphology",
"arrested cell-cycle progression",
"development of aberrant gene expression with proinflammatory behavior",
"telomere shortening"
] | [
"Cellular senescence is recognized as a critical cellular response to prolonged rounds of replication and environmental stresses. Its defining characteristics are arrested cell-cycle progression and the development of aberrant gene expression with proinflammatory behavior.",
"telomeres are the central timing mechanism for cellular aging",
"Recent research has shown that inserting a gene for the protein component of telomerase into senescent human cells reextends their telomeres to lengths typical of young cells, and the cells then display all the other identifiable characteristics of young, healthy cells.",
"Our data demonstrate that Sod1 transfected cell lines that have an elevation in the ratio of Sod1 activity to Gpx1 activity produce higher levels of H2O2 and exhibit well characterised markers of cellular senescence viz. slower proliferation and altered morphology."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/9624027",
"http://www.ncbi.nlm.nih.gov/pubmed/18976161",
"http://www.ncbi.nlm.nih.gov/pubmed/8824885"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0090398",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016922",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000772",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000773",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:2000774"
] |
56c1f01def6e394741000045 | factoid | Orteronel was developed for treatment of which cancer? | [
"Orteronel was developed for treatment of castration-resistant prostate cancer."
] | [
"castration-resistant prostate cancer"
] | [
"Pooled-analysis was also performed, to assess the effectiveness of agents targeting the androgen axis via identical mechanisms of action (abiraterone acetate, orteronel).",
"The experimental interventions tested in these studies were enzalutamide, ipilimumab, abiraterone acetate, orteronel and cabazitaxel. ",
" Pooled analysis of androgen synthesis inhibitors orteronel and abiraterone resulted in significantly increased overall and progression-free survival for anti-androgen agents, compared to placebo (hazard ratio for death: 0.76, 95% CI 0.67 to 0.87, P<0.0001; hazard ratio for radiographic progression: 0.7, 95% CI 0.63 to 0.77, P<0.00001). ",
"Agents targeting the androgen axis (enzalutamide, abiraterone, orteronel) significantly prolonged rPFS, compared to placebo. ",
"Orteronel plus prednisone in patients with chemotherapy-naive metastatic castration-resistant prostate cancer (ELM-PC 4): a double-blind, multicentre, phase 3, randomised, placebo-controlled trial.",
"BACKGROUND: Orteronel is an investigational, partially selective inhibitor of CYP 17,20-lyase in the androgen signalling pathway, a validated therapeutic target for metastatic castration-resistant prostate cancer. We assessed orteronel in chemotherapy-naive patients with metastatic castration-resistant prostate cancer.",
"NTERPRETATION: In chemotherapy-naive patients with metastatic castration-resistant prostate cancer, radiographic progression-free survival was prolonged with orteronel plus prednisone versus placebo plus prednisone.",
"On the basis of these and other data, orteronel is not undergoing further development in metastatic castration-resistant prostate cancer.",
"Phase III, randomized, double-blind, multicenter trial comparing orteronel (TAK-700) plus prednisone with placebo plus prednisone in patients with metastatic castration-resistant prostate cancer that has progressed during or after docetaxel-based therapy: ELM-PC 5.",
"This study examined orteronel in patients with metastatic castration-resistant prostate cancer that progressed after docetaxel therapy.",
"Longer rPFS and a higher PSA50 rate with orteronel-prednisone indicate antitumor activity.",
"A phase 1 multiple-dose study of orteronel in Japanese patients with castration-resistant prostate cancer.",
"We evaluated the safety, tolerability, pharmacokinetics, pharmacodynamics, and antitumor effect of orteronel with or without prednisolone in Japanese patients with castration-resistant prostate cancer (CRPC).",
"CONCLUSIONS: Orteronel at doses up to 400 mg BID was tolerable in Japanese CRPC patients.",
"Orteronel for the treatment of prostate cancer.",
"Orteronel (also known as TAK-700) is a novel hormonal therapy that is currently in testing for the treatment of prostate cancer.",
"Orteronel is a nonsteroidal, selective inhibitor of 17,20-lyase that was recently in phase 3 clinical development as a treatment for castration-resistant prostate cancer.",
"Early reports of clinical studies demonstrate that orteronel treatment leads to reduced prostate-specific antigen levels, a marker of prostate cancer tumor burden, and more complete suppression of androgen synthesis than conventional androgen deprivation therapies that act in the testes alone.",
"Discovery of orteronel (TAK-700), a naphthylmethylimidazole derivative, as a highly selective 17,20-lyase inhibitor with potential utility in the treatment of prostate cancer.",
"Therefore, (+)-3c (termed orteronel [TAK-700]) was selected as a candidate for clinical evaluation and is currently in phase III clinical trials for the treatment of castration-resistant prostate cancer.",
"We assessed orteronel in chemotherapy-naive patients with metastatic castration-resistant prostate cancer.",
"Orteronel is a nonsteroidal, selective inhibitor of 17,20-lyase that was recently in phase 3 clinical development as a treatment for castration-resistant prostate cancer. ",
"Phase I/II trial of orteronel (TAK-700)--an investigational 17,20-lyase inhibitor--in patients with metastatic castration-resistant prostate cancer.",
"On the basis of these and other data, orteronel is not undergoing further development in metastatic castration-resistant prostate cancer.FUNDING: Millennium Pharmaceuticals, Inc, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited.",
"New androgen biosynthesis inhibitors have been developed, such as orteronel (TAK-700), but also new antiandrogens (enzalutamide, ARN-509, ODM-201) or even agents with a dual mechanism of action (galeterone). In this review the development of new hormonal therapies following the arrival of abiraterone for the treatment of prostate cancer will be summarized."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/24799061",
"http://www.ncbi.nlm.nih.gov/pubmed/24418642",
"http://www.ncbi.nlm.nih.gov/pubmed/25537627",
"http://www.ncbi.nlm.nih.gov/pubmed/25701170",
"http://www.ncbi.nlm.nih.gov/pubmed/25624429",
"http://www.ncbi.nlm.nih.gov/pubmed/25264242",
"http://www.ncbi.nlm.nih.gov/pubmed/21978946",
"http://www.ncbi.nlm.nih.gov/pubmed/26150028",
"http://www.ncbi.nlm.nih.gov/pubmed/24100689"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:162"
] |
5313b049e3eabad021000013 | yesno | Is the monoclonal antibody Trastuzumab (Herceptin) of potential use in the treatment of prostate cancer? | [
"Although is still controversial, Trastuzumab (Herceptin) can be of potential use in the treatment of prostate cancer overexpressing HER2, either alone or in combination with other drugs."
] | [
"yes"
] | [
"Herceptin is widely used in treating Her2-overexpressing breast cancer. However, the application of Herceptin in prostate cancer is still controversial.",
"Our data demonstrate that Re-188-labeled Herceptin effectively inhibited the growth of DU145 cells compared to the Herceptin- and Re-188-treated cohorts. This implies that targeting Her2 by both radio- and immuno- therapy might be a potential strategy for treating patients with androgen-independent prostate cancer.",
"epidermal growth factor receptor (EGFR) family members are potential targets for therapy using extra-cellular domain receptor binding agents, such as the antibodies trastuzumab and cetuximab",
" there were tendencies for upregulation of HER2, increased co-expression of EGFR and HER2 and downregulation of HER3 in the prostate cancer lymph node metastases in comparison to the primary tumors. ",
"We performed a comparative analysis in vitro and in vivo of the antitumor effects of three different antibodies targeting different epitopes of ErbB2: Herceptin (trastuzumab), 2C4 (pertuzumab) and Erb-hcAb (human anti-ErbB2-compact antibody), a novel fully human compact antibody produced in our laboratory. Herein, we demonstrate that the growth of both androgen-dependent and independent prostate cancer cells was efficiently inhibited by Erb-hcAb. The antitumor effects induced by Erb-hcAb on some cell lines were more potent than those observed for either Herceptin or 2C4.",
"These findings suggest that a systemic delivery of 212Pb-trastuzumab could be an effective modality for management of advanced human prostate cancer.",
"Human epidermal growth factor receptor type 2 (HER2) overexpression supports proliferation of androgen-independent prostate cancer (PC)",
"Radiolabeled ABY-025 Affibody molecule provides higher contrast in imaging of HER2-expressing PC xenografts than radiolabeled trastuzumab. ",
"These studies indicate that dual EGFR/HER2 inhibition, administered together with AWT, sensitize prostate cancer cells to apoptosis during AWT",
"The overall goal of these studies is to determine whether dual inhibition of the receptor tyrosine kinases epidermal growth factor receptor (EGFR) and HER2 would prolong the effectiveness of this treatment in prostate cancer. ",
"The expression of HER2 was demonstrated and quantified in all three tested prostate cancer cell-lines.",
"Such features would definitely favor the use of radiometal labels for trastuzumab and, most likely, for affibody molecules",
"our data demonstrate that Her2 plays an important role in the support of AR protein stability in the transition of androgen requirement in prostate cancer cells. We hope these findings will provide novel insight into the treatment of hormone-refractory prostate cancer.",
"These two cell lines exhibited distinct responses to Her2 activation (by heregulin treatment) on Her2 phosphorylation and Her2 inhibition (by AG825 or Herceptin treatments) on proliferation",
" While prostate cancers that express high levels of HER-2 are resistant to the killing effects of trastuzumab, they can be targeted for selective gene expression and destruction by lentiviruses with envelope proteins engineered to bind to this therapeutic antibody",
"Overexpression of ErbB-2 and EGFR has been associated with aggressive disease and poor patient prognosis in a range of human tumour types (e.g. breast, lung, ovarian, prostate",
"Various approaches have been developed to target the ErbB signalling pathways including monoclonal antibodies (trastuzumab/Herceptin",
"The data from these in vitro and in vivo studies supported advancement of radiolabeled trastuzumab into two clinical studies",
"Tumor targeting was evaluated in mice bearing subcutaneous (s.c.) xenografts of colorectal, pancreatic, ovarian, and prostate carcinomas.",
"we found that although prostate cancers that express high levels of HER-2 are resistant to the killing effects of trastuzumab, they can be targeted for selective gene expression and destruction by viruses with envelope proteins engineered to bind this antibody",
"detection of prostate cancer (PCa) and advances in hormonal and chemotherapy treatments have provided great clinical benefits to patients with early stages of the disease.",
"MAbs directed to established targets include those approved for other solid tumors, including anti-human epidermal growth factor receptor-2 (HER2) MAb trastuzumab",
"We conclude that Her2/neu expression in the peripheral blood mononuclear cell fraction of prostate cancer patients is frequent and therefore this assay may potentially be useful to detect the presence of micrometastatic disease in men with prostate cancer and for monitoring patients enrolled in trastuzumab-based therapeutic protocols.",
"This study suggests that the docetaxel/trastuzumab combination may prove an effective therapeutic approach for HER2-expressing hormone-refractory prostate cancer.",
"there was no significant difference in antimetastatic activity between the emulsion and the immunoemulsion despite the affinity of the immunoemulsion towards the HER2 receptor. ",
"a targeted drug delivery system based on cationic emulsion covalently linked to anti-HER2 monoclonal antibody (Herceptin), in a well-established in vivo pharmacologic model of metastatic prostate cancer that overexpresses the HER2 receptor",
"The finding of strong, consistent HER-2/neu expression in ACBCC suggests that treatment with Herceptin (trastuzumab) may be effective in patients with this rare tumour.",
"Although HER2 can be over-expressed in prostate cancer, there is no clinical data to support the use of trastuzumab for prostate cancer patients.",
"whereas the effect of the trastuzumab-RT combination was inferior to that predicted by the individual effects.",
"HER 1-2 targeting of hormone-refractory prostate cancer by ZD1839 and trastuzumab",
"Trastuzumab (Herceptin) as a single agent demonstrated poor efficacy in treating HRPC.",
"To investigate the efficacy and toxicity of the antibody to the HER-2/neu receptor (trastuzumab, Herceptin) in the treatment of advanced hormone-refractory prostate cancer (HRPC)",
"Conclusions regarding the predictive value of HER-2 status on outcome after trastuzumab-based therapy were not reached and were only drawn after larger-scale screening efforts. ",
"rastuzumab plus docetaxel in HER-2/neu-positive prostate carcinoma",
"clinical trials are currently in progress in patients with prostate cancer testing novel agents that selectively interfere with these receptors, such as trastuzumab,",
"ytotoxicity of human prostate cancer cell lines in vitro and induction of apoptosis using 213Bi-Herceptin alpha-conjugate",
"The clinical interpretation of c-erbB-2 abnormalities should reflect the complexity of c-erbB-2 mediated regulatory pathway and explain why tumours with overexpression/amplification of c-erbB-2 very often do not respond to therapy using Herceptin",
"HER-2 overexpression also has been reported in up to 60% of patients with hormone-refractory prostate carcinoma (HRPC) and was correlated with shortened survival",
"Unlike breast carcinoma and contrary to prior reports, HER-2 overexpression by IHC in archival prostate tissue from patients who eventually developed hormone-refractory disease was infrequent. There did not appear to be any correlation between HER-2 overexpression by IHC and shed HER-2 antigen levels in serum by ELISA in this tumor type.",
"Further development of trastuzumab for the treatment of patients with metastatic prostate carcinoma is not feasible until more reliable and practical methods of sampling metastatic disease are developed to identify patients with HER-2 positive tumors.",
"the expression of ERBB2 in prostate cancer is relatively low, and is not altered during disease progression. Thus, it is unlikely that treatment modalities relying on the overexpression of ERBB2 gene will be useful in treating prostate cancer.",
"A phase I study was designed to evaluate docetaxel/estramustine plus trastuzumab, a humanized monoclonal antibody that binds to the HER2 receptor, in patients with metastatic androgen-independent prostate cancer (AIPC)",
"Laboratory evidence also supports the clinical evaluation of docetaxel-based combinations that include agents such as trastuzumab and/or estramustine",
"trastuzumab, a monoclonal antibody binding to the HER2 receptor; immunotoxin conjugates use an antibody directed against EGFR joined to a cell toxin. All are in clinical trials for a number of cancers, including prostate cancer",
"we investigated the antitumor efficacy of Herceptin, a new recombinant humanized anti-HER2/neu antibody, which exhibits cytostatic activity on breast and prostate cancer cells that overexpress the HER2 oncogene.",
"trastuzumab was found to have additive and synergistic effects with some chemotherapeutic agents",
"ER-2/neu as a therapeutic target in non-small cell lung cancer, prostate cancer",
"in these prostate cancer model systems, Herceptin alone has clinical activity only in the androgen-dependent tumor and has at least an additive effect on growth,",
"anti-HER2 receptor monoclonal antibody Herceptin significantly enhanced growth inhibition of the MDA PCa 2a cells."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23294030",
"http://www.ncbi.nlm.nih.gov/pubmed/10473102",
"http://www.ncbi.nlm.nih.gov/pubmed/11786427",
"http://www.ncbi.nlm.nih.gov/pubmed/17210707",
"http://www.ncbi.nlm.nih.gov/pubmed/21364123",
"http://www.ncbi.nlm.nih.gov/pubmed/12173324",
"http://www.ncbi.nlm.nih.gov/pubmed/22322558",
"http://www.ncbi.nlm.nih.gov/pubmed/16163160",
"http://www.ncbi.nlm.nih.gov/pubmed/11236029",
"http://www.ncbi.nlm.nih.gov/pubmed/10519379",
"http://www.ncbi.nlm.nih.gov/pubmed/15264245",
"http://www.ncbi.nlm.nih.gov/pubmed/20716957",
"http://www.ncbi.nlm.nih.gov/pubmed/11502465",
"http://www.ncbi.nlm.nih.gov/pubmed/15046685",
"http://www.ncbi.nlm.nih.gov/pubmed/17211467",
"http://www.ncbi.nlm.nih.gov/pubmed/11920466",
"http://www.ncbi.nlm.nih.gov/pubmed/17142577",
"http://www.ncbi.nlm.nih.gov/pubmed/11685722",
"http://www.ncbi.nlm.nih.gov/pubmed/21844010",
"http://www.ncbi.nlm.nih.gov/pubmed/18038879",
"http://www.ncbi.nlm.nih.gov/pubmed/12677892",
"http://www.ncbi.nlm.nih.gov/pubmed/15036648",
"http://www.ncbi.nlm.nih.gov/pubmed/15571968",
"http://www.ncbi.nlm.nih.gov/pubmed/22977535",
"http://www.ncbi.nlm.nih.gov/pubmed/23255921",
"http://www.ncbi.nlm.nih.gov/pubmed/15919200",
"http://www.ncbi.nlm.nih.gov/pubmed/15139054",
"http://www.ncbi.nlm.nih.gov/pubmed/18071949",
"http://www.ncbi.nlm.nih.gov/pubmed/19373278",
"http://www.ncbi.nlm.nih.gov/pubmed/11331475",
"http://www.ncbi.nlm.nih.gov/pubmed/22137850",
"http://www.ncbi.nlm.nih.gov/pubmed/22505344",
"http://www.ncbi.nlm.nih.gov/pubmed/21326934",
"http://www.ncbi.nlm.nih.gov/pubmed/21254978",
"http://www.ncbi.nlm.nih.gov/pubmed/11685733"
] | [] | [
"http://www.biosemantics.org/jochem#4002084",
"http://www.disease-ontology.org/api/metadata/DOID:10283"
] |
54d643023706e89528000007 | factoid | Which is the protein that is encoded by the gene GLT8D1? | [
"The GLT8D1 gene codes for the protein named glycosyltransferase 8 domain containing 1"
] | [
"glycosyltransferase 8 domain containing 1"
] | [] | [
"http://www.ncbi.nlm.nih.gov/pubmed/24114764",
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53137541e3eabad021000010 | list | Which are the Yamanaka factors? | [
"The Yamanaka factors are the OCT4, SOX2, MYC, and KLF4 transcription factors"
] | [
"OCT4",
"Oct3/4",
"Pou5f1",
"SOX2",
"MYC",
"c-MYC",
"KLF4"
] | [
"Yamanaka factors (OCT4, SOX2, MYC, and KLF4",
"Yamanaka factors' (Oct4, Sox2, Klf4 and c-Myc)",
"Yamanaka factors (Oct4, Sox2, Klf4, and c-Myc) ",
"Yamanaka factors (c-myc, KLF4, Oct3/4 and SOX2)",
"Yamanaka factors (i.e., Oct4, Sox2, Klf4, and c-Myc) ",
"Yamanaka factors (Oct3/4, Sox2, Klf4, and c-Myc)",
"Yamanaka factors (OCT4, SOX2, KLF4, cMYC - OSKM",
"Oct4, Sox2, Klf4 and cMyc (4TF, Yamanaka factors) ",
"Yamanaka factors (Pou5f1, Myc, Klf4, and Sox2) ",
"c-Myc, Klf4, Oct3/4, and Sox2 (the so-called \"Yamanaka factors\")",
"Yamanaka factors, Oct3/4, Sox2, Klf4, and c-Myc",
"Yamanaka factors, namely Sox2, Oct3/4 (Pou5f1), Klf4, and c-Myc",
"Oct4, Sox2, Klf4 and c-Myc, also known as the Yamanaka factors. ",
"Yamanaka factors (SOX2, OCT3/4, and KLF4, with or without c-MYC)",
"Yamanaka factors Oct4, Sox2, Klf4, and c-Myc",
"amanaka factors (Oct3/4, Sox2, Klf4, c-Myc)",
"Yamanaka factors (Oct3/4, Sox2, Klf4, c-Myc) are highly expressed in embryonic stem (ES) cells, and their over-expression can induce pluripotency in both mouse and human somatic cells, indicating that these factors regulate the developmental signaling network necessary for ES cell pluripotency.",
"These protein sets have been called the Yamanaka factors, namely Sox2, Oct3/4 (Pou5f1), Klf4, and c-Myc, and the Thomson factors, namely Sox2, Oct3, Lin28, and Nanog",
"Yamanaka factors (Oct3/4, Sox2, Klf4, c-Myc) are highly expressed in embryonic stem (ES) cells, and their over-expression can induce pluripotency in both mouse and human somatic cells, indicating that these factors regulate the developmental signaling network necessary for ES cell pluripotency",
"Transcription factors, Oct4, Sox2, Klf4 and cMyc (4TF, Yamanaka factors) are used as basal conditions to generate iPS cells",
"Generation of induced pluripotent stem (iPS) cells from somatic cells has been successfully achieved by ectopic expression of four transcription factors, Oct4, Sox2, Klf4 and c-Myc, also known as the Yamanaka factors"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23658991",
"http://www.ncbi.nlm.nih.gov/pubmed/21839145",
"http://www.ncbi.nlm.nih.gov/pubmed/23612755",
"http://www.ncbi.nlm.nih.gov/pubmed/21761058",
"http://www.ncbi.nlm.nih.gov/pubmed/23939864",
"http://www.ncbi.nlm.nih.gov/pubmed/24150221",
"http://www.ncbi.nlm.nih.gov/pubmed/22357549",
"http://www.ncbi.nlm.nih.gov/pubmed/20144262",
"http://www.ncbi.nlm.nih.gov/pubmed/23527808",
"http://www.ncbi.nlm.nih.gov/pubmed/21640101",
"http://www.ncbi.nlm.nih.gov/pubmed/19030024",
"http://www.ncbi.nlm.nih.gov/pubmed/23704989",
"http://www.ncbi.nlm.nih.gov/pubmed/22449255",
"http://www.ncbi.nlm.nih.gov/pubmed/22075965",
"http://www.ncbi.nlm.nih.gov/pubmed/21249204",
"http://www.ncbi.nlm.nih.gov/pubmed/23166588"
] | [] | [] |
515aa0abd24251bc050000a8 | summary | What is the aim of the Human Chromosome-centric Proteome Project (C-HPP)? | [
"The chromosome-centric human proteome project aims to systematically map all human proteins, chromosome by chromosome, in a gene-centric manner through dedicated efforts from national and international teams",
"The Chromosome-Centric Human Proteome Project (C-HPP) is an international effort for creating an annotated proteomic catalog for each chromosome. (PMID: 23312004) The chromosome-centric human proteome project aims to systematically map all human proteins, chromosome by chromosome, in a gene-centric manner through dedicated efforts from national and international teams. (PMID: 23308364) The Chromosome-centric Human Proteome Project (C-HPP) aims to systematically map the entire human proteome with the intent to enhance our understanding of human biology at the cellular level. (PMID: 23253012)"
] | [] | [
"The Chromosome-Centric Human Proteome Project (C-HPP) is an international effort for creating an annotated proteomic catalog for each chromosome",
"The chromosome-centric human proteome project aims to systematically map all human proteins, chromosome by chromosome, in a gene-centric manner through dedicated efforts from national and international teams",
"A gene-centric Human Proteome Project has been proposed to characterize the human protein-coding genes in a chromosome-centered manner to understand human biology and disease.",
"dedicated to a systematic description of proteins as gene products encoded in the human genome (the C-HPP)",
"a chromosome-centric protein mapping strategy, termed C-HPP",
"The Chromosome-centric Human Proteome Project (C-HPP) aims to systematically map the entire human proteome with the intent to enhance our understanding of human biology at the cellular level.",
"The objective of the international Chromosome-Centric Human Proteome Project (C-HPP) is to map and annotate all proteins encoded by the genes on each human chromosome. The C-HPP consortium was established to organize a collaborative network among the research teams responsible for protein mapping of individual chromosomes and to identify compelling biological and genetic mechanisms influencing colocated genes and their protein products. The C-HPP aims to foster the development of proteome analysis and integration of the findings from related molecular -omics technology platforms through collaborations among universities, industries, and private research groups.",
"The goal of the Human Proteome Project (HPP) is to fully characterize the 21,000 human protein-coding genes with respect to the estimated two million proteins they encode. As such, the HPP aims to create a comprehensive, detailed resource to help elucidate protein functions and to advance medical treatment.",
"The Chromosome-centric Human Proteome Project (C-HPP) aims to define all proteins encoded in each chromosome and especially to identify proteins that currently lack evidence by mass spectrometry.",
"Our results will contribute to the accomplishment of the primary goal of the C-HPP in identifying so-called \"missing proteins\" and generating a whole protein catalog for each chromosome.",
"there is only little information relative to their abundance, distribution, subcellular localization, interactions, or cellular functions. The aim of the HUPO Human Proteome Project (HPP, www.thehpp.org ) is to collect this information for every human protein.",
". To support the efforts of the Chromosome-centric Human Proteome Project Consortium, we have annotated these proteins with their respective chromosome location.",
"One of the major challenges of a chromosome-centric proteome project is to explore in a systematic manner the potential proteins identified from the chromosomal genome sequence, but not yet characterized on a protein level.",
"The Chromosome 16 Consortium forms part of the Human Proteome Project that aims to develop an entire map of the proteins encoded by the human genome following a chromosome-centric strategy (C-HPP) to make progress in the understanding of human biology in health and disease (B/D-HPP).",
"A first research development progress report of the Chromosome 19 Consortium with members from Sweden, Norway, Spain, United States, China and India, a part of the Chromosome-centric Human Proteome Project (C-HPP) global initiative, is presented ( http://www.c-hpp.org ).",
"In an effort to map the human proteome, the Chromosome-centric Human Proteome Project (C-HPP) was recently initiated."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23312004",
"http://www.ncbi.nlm.nih.gov/pubmed/23253012",
"http://www.ncbi.nlm.nih.gov/pubmed/23252913",
"http://www.ncbi.nlm.nih.gov/pubmed/22966780",
"http://www.ncbi.nlm.nih.gov/pubmed/23249167",
"http://www.ncbi.nlm.nih.gov/pubmed/23259496",
"http://www.ncbi.nlm.nih.gov/pubmed/21742803",
"http://www.ncbi.nlm.nih.gov/pubmed/23205526",
"http://www.ncbi.nlm.nih.gov/pubmed/23234512",
"http://www.ncbi.nlm.nih.gov/pubmed/23308364",
"http://www.ncbi.nlm.nih.gov/pubmed/23214983",
"http://www.ncbi.nlm.nih.gov/pubmed/23276153",
"http://www.ncbi.nlm.nih.gov/pubmed/23153008",
"http://www.ncbi.nlm.nih.gov/pubmed/23227862",
"http://www.ncbi.nlm.nih.gov/pubmed/22443261"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006801",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020543",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002875",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002877",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D041322"
] |
56af9f130a360a5e45000015 | factoid | Where is the protein Pannexin1 located? | [
"The protein Pannexin1 is localized to the plasma membranes."
] | [
"plasma membrane"
] | [
"zfPanx1 was identified on the surface of horizontal cell dendrites invaginating deeply into the cone pedicle near the glutamate release sites of the cones, providing in vivo evidence for hemichannel formation at that location.",
"pannexin1, a vertebrate homolog of invertebrate gap junction proteins.",
"The specific profile of gap junction proteins, the connexins, expressed in these different cell types forms compartments of intercellular communication that can be further shaped by the release of extracellular nucleotides via pannexin1 channels. ",
"Recent studies demonstrated that ATP can be released from cells in a controlled manner through pannexin (Panx) channels.",
"The ATP release channel Pannexin1 (Panx1) is self-regulated",
"The membrane protein Pannexin1 forms two open-channel conformations depending on the mode of activation.",
" Pannexin1 channels traffic to the plasma membrane.",
"We previously showed that pannexins form oligomeric channels but unlike connexins and innexins, they form only single membrane channels.",
"ATP release channel Pannexin1 ",
"Pannexin1 (Panx1) is a newly discovered extracellular ATP release channel with a wide tissue distribution and diverse biological functions in mammals.",
"In mammals, a single pannexin1 gene (Panx1) is widely expressed in the CNS including the inner and outer retinae, forming large-pore voltage-gated membrane channels, which are involved in calcium and ATP signaling. ",
"Six of them form a \"gap junction hemichannel-like\" structure that connects the cytoplasm with the extracellular space; here they will be called Panx1 channels. These are poorly selective channels permeable to ions, small metabolic substrate, and signaling molecules."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/24642372",
"http://www.ncbi.nlm.nih.gov/pubmed/25056878",
"http://www.ncbi.nlm.nih.gov/pubmed/24694658",
"http://www.ncbi.nlm.nih.gov/pubmed/25698922",
"http://www.ncbi.nlm.nih.gov/pubmed/17064878",
"http://www.ncbi.nlm.nih.gov/pubmed/24782784",
"http://www.ncbi.nlm.nih.gov/pubmed/26100513",
"http://www.ncbi.nlm.nih.gov/pubmed/25007779",
"http://www.ncbi.nlm.nih.gov/pubmed/19409451",
"http://www.ncbi.nlm.nih.gov/pubmed/24194896"
] | [
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"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0051179"
] |
5718bbb37de986d80d00000b | list | Which currently known mitochondrial diseases have been attributed to POLG mutations? | [
"Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO).",
"Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO)"
] | [
"childhood Myocerebrohepatopathy Spectrum disorders (MCHS)",
"Alpers syndrome",
"Ataxia Neuropathy Spectrum (ANS) disorders",
"Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA)",
"autosomal recessive Progressive External Ophthalmoplegia (arPEO)",
"autosomal dominant Progressive External Ophthalmoplegia (adPEO)"
] | [
"Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy Sensory Ataxia (MEMSA), 5) autosomal recessive Progressive External Ophthalmoplegia (arPEO), and 6) autosomal dominant Progressive External Ophthalmoplegia (adPEO)",
"Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA.",
"About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes.",
"Nineteen exhibited a cluster of three or more predefined clinical manifestations suggestive of POLG-related disease: progressive external ophthalmoplegia, seizures and/or an abnormal electroencephalogram, neuropathy, ataxia, liver function abnormalities, migraine or dysphagia/dysarthria. ",
"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/18546365",
"http://www.ncbi.nlm.nih.gov/pubmed/12825077",
"http://www.ncbi.nlm.nih.gov/pubmed/22647225",
"http://www.ncbi.nlm.nih.gov/pubmed/15351195",
"http://www.ncbi.nlm.nih.gov/pubmed/20927567"
] | [] | [] |
532f062ad6d3ac6a34000027 | summary | What is the effect of ivabradine in heart failure after myocardial infarction? | [
"Ιvabradine decreases heart rate and reduces myocardial oxygen demand, increases diastolic perfusion time and improves energetics in ischemic myocardium. Ivabradine protects the myocardium during ischemia, improves left ventricular function in heart failure and reduces remodeling following myocardial infarction. It improves prognosis in patients with coronary artery disease, left ventricular dysfunction and heart rate ≥70 beats per minute, as well as in patients with heart failure and left ventricular dysfunction. The beneficial effects of ivabradine may be due to the reversal of electrophysiological cardiac remodelling in post-MI rats by reduction of functional overexpression of HCN channels. Furthermore, the improvement of cardiac function is related not only to the HR reduction per se but also to modifications in the extracellular matrix."
] | [] | [
"Ivabradine may be important for the improvement of clinical outcomes in patients with LV systolic dysfunction and heart rate ≥ 70 b.p.m., whatever the primary clinical presentation (CAD or HF) or clinical status (NYHA class).",
"Treatment with ivabradine was associated with a 13% relative risk reduction for the composite of cardiovascular mortality or HF hospitalization (P < 0.001 vs. placebo); this was driven by HF hospitalizations (19%, P < 0.001). ",
"Ivabradine (IVA), a pure HR lowering drug, reduces the demand of myocardial oxygen during exercise, contributes to the restoration of oxygen balance and is therefore beneficial in chronic CVD. No relevant negative effects have been observed on cardiac conduction, contractility, relaxation, repolarization or blood pressure (BP).",
"The most significant results were obtained in the subgroup of patients with life-limiting exertional angina. In this group, ivabradine significantly reduced the primary endpoint, a composite of cardiovascular death, hospitalization for fatal and nonfatal acute myocardial infarction (AMI) or heart failure, by 24%, and hospitalizations for AMI by 42%. In the subgroup of patients with baseline heart rate >70 bpm, hospitalizations for AMI and revascularization were reduced by 73% and 59%, respectively",
"Indeed, heart rate reduction with ivabradine, a selective and specific I(f) inhibitor, reduces myocardial oxygen demand, increases diastolic perfusion time and improves energetics in ischemic myocardium. Ivabradine protects the myocardium during ischemia, improves left ventricular function in heart failure and reduces remodeling following myocardial infarction. It improves prognosis in patients with coronary artery disease, left ventricular dysfunction and heart rate ≥70 beats per minute, as well as in patients with heart failure and left ventricular dysfunction.",
"The beneficial effects of ivabradine may be due to the reversal of electrophysiological cardiac remodelling in post-MI rats by reduction of functional overexpression of HCN channels. This is attributable to transcriptional and post-transcriptional mechanisms.",
"Addition of ivabradin to standard treatment of SCCF after MI promoted less frequency of hospitalizations, recurrent non-fatal MI, fatal cardiovascular events. This effect was especially strong in high baseline HR.",
"The most important finding of the study was that patients with high baseline HR had an increase in serious cardiovascular events including death (34%), hospital admission secondary to congestive heart failure (53%), acute myocardial infarction (46%), or revascularization procedure (38%). In addition, in the subset analysis focusing on patients with baseline HR > or =70 bpm and left ventricular ejection fraction <40% the agent resulted in a 36% decrease in hospital admissions secondary to fatal and nonfatal myocardial infarction and a 30% decrease in coronary revascularization.",
"In the subgroup of patients with a baseline heart rate > or =70 bpm, treatment with ivabradine resulted in a significant, 36% reduction in the risk of myocardial infarction and a 20% reduction in the need for coronary revascularisation. Ivabradine was well tolerated, with an increased rate of treatment discontinuation, mainly due to bradycardia, compared with placebo.",
"Ivabradine did not significantly affect the combined primary endpoint. Significant reduction by 36% (p = 0.001) in myocardial infarction and by 30% (p = 0.016) in coronary revascularization was observed in the pre-defined subgroup of patients with heart rate > or = 70/min. ",
"In conclusion, these data indicated that HR reduction by Iva prevents the worsening of LV dysfunction and remodeling that may be related to a downregulation of cardiac renin-angiotensin-aldosterone system transcripts.",
"Interstitial fibrosis in the MI-remote LV was markedly reduced by Iva (4.0 +/- 0.1 vs. 1.8 +/- 0.1%, P < 0.005). ",
"Although both metoprolol and ivabradine comparably prevented post-MI deterioration of haemodynamic function in the rat, metoprolol had additional potentially beneficial effects; it prevented LV dilation and hypertrophy, chronotropic incompetence, strongly increased contractility of isolated cardiomyocytes, and prevented the potentially proarrhythmic increase in NCX activity.",
"In rats with CHF, long-term HRR induced by the selective I(f) inhibitor ivabradine improves LV function and increases stroke volume, preserving cardiac output despite the HRR. The improvement of cardiac function is related not only to the HRR per se but also to modifications in the extracellular matrix and/or function of myocytes as a consequence of long-term HRR."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21838751",
"http://www.ncbi.nlm.nih.gov/pubmed/19074674",
"http://www.ncbi.nlm.nih.gov/pubmed/18310678",
"http://www.ncbi.nlm.nih.gov/pubmed/23067195",
"http://www.ncbi.nlm.nih.gov/pubmed/18757088",
"http://www.ncbi.nlm.nih.gov/pubmed/20000882",
"http://www.ncbi.nlm.nih.gov/pubmed/19664404",
"http://www.ncbi.nlm.nih.gov/pubmed/14981003",
"http://www.ncbi.nlm.nih.gov/pubmed/23096376",
"http://www.ncbi.nlm.nih.gov/pubmed/21878041",
"http://www.ncbi.nlm.nih.gov/pubmed/19514618",
"http://www.ncbi.nlm.nih.gov/pubmed/22416440",
"http://www.ncbi.nlm.nih.gov/pubmed/19129742",
"http://www.ncbi.nlm.nih.gov/pubmed/23536611",
"http://www.ncbi.nlm.nih.gov/pubmed/18621770",
"http://www.ncbi.nlm.nih.gov/pubmed/19411283",
"http://www.ncbi.nlm.nih.gov/pubmed/20028694",
"http://www.ncbi.nlm.nih.gov/pubmed/23394554"
] | [] | [
"http://www.biosemantics.org/jochem#4266225",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009203",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D054143"
] |
52bf1b0a03868f1b06000009 | factoid | What is the mode of inheritance of Wilson's disease? | [
"Wilson's disease (WD) is an autosomal recessive disorder."
] | [
"autosomal recessive"
] | [
"The disease has an autosomal recessive mode of inheritance, and is characterized by excessive copper deposition, predominantly in the liver and brain.",
" The inheritance is autosomal recessive. ",
"Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive inheritance disorder of copper metabolism caused by ATP7B gene mutation. ",
"Inheritance seems most likely to be autosomal recessive",
"When familial, it is inherited recessively and has been linked to chromosome 20. ",
"Inheritance of a pair of alleles of an autosomal recessive gene on chromosome 13 is necessary and sufficient to cause such copper accumulation in WD; reducing the dietary intake of copper cannot prevent the development of WD. ",
"Wilson's disease is a treatable movement disorder with autosomal recessive inheritance which is associated with severe morbidity and mortality if not treated early. ",
"The patient was considered heterozygote for hemochromatosis on the basis of the autosomal recessive inheritance for hemochromatosis, the frequency of the hemochromatosis gene, and the laboratory parameters defining her iron overload. ",
"Wilson's disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. ",
"Autosomal recessive inheritance indicates that siblings of affected patients are at 25% risk of having the disease. ",
"Wilson's disease is a rare genetic disorder of copper metabolism with autosomal recessive inheritance.",
"Recessive inheritance is, however, supported. ",
"The autosomal recessive mode of inheritance strongly suggests that mutation of a single gene causes the impairment of both caeruloplasmin synthesis and biliary copper excretion.",
"This is consistent with the autosomal-recessive pattern of inheritance",
"The overall sex ratio of patients was nearly 1:1, and genetic analysis of 20 families confirmed an autosomal recessive mode of inheritance. ",
"Dermatoglyphics of 11 patients with Wilson's disease and 16 of their clinically asymptomatic relatives of first degree were investigated; 11 of the latter ones were heterozygous in agreement with the turn over rates of Cu-67, 12 under the assumption of autosomal recessive inheritance."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/838566",
"http://www.ncbi.nlm.nih.gov/pubmed/12152840",
"http://www.ncbi.nlm.nih.gov/pubmed/20662462",
"http://www.ncbi.nlm.nih.gov/pubmed/16932613",
"http://www.ncbi.nlm.nih.gov/pubmed/1248830",
"http://www.ncbi.nlm.nih.gov/pubmed/22610954",
"http://www.ncbi.nlm.nih.gov/pubmed/2724779",
"http://www.ncbi.nlm.nih.gov/pubmed/8615372",
"http://www.ncbi.nlm.nih.gov/pubmed/1940586",
"http://www.ncbi.nlm.nih.gov/pubmed/6620327",
"http://www.ncbi.nlm.nih.gov/pubmed/8186659",
"http://www.ncbi.nlm.nih.gov/pubmed/759736",
"http://www.ncbi.nlm.nih.gov/pubmed/6109943"
] | [
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/diseaseSubtypeOf",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/4181",
"o": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1198"
},
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/name",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1198",
"o": "Wilson_disease"
},
{
"p": "http://www.w3.org/2004/02/skos/core#exactMatch",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1198",
"o": "http://www.dbpedia.org/resource/Wilson%27s_disease"
},
{
"p": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseasome/name",
"s": "http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/4181",
"o": "Wilson disease, 277900"
}
] | [
"http://www.disease-ontology.org/api/metadata/DOID:4",
"http://www.disease-ontology.org/api/metadata/DOID:893",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=diseases_category",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006527",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D040582",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004194",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014918",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020739",
"http://www.disease-ontology.org/api/metadata/DOID:2214"
] |
517395b98ed59a060a00001a | yesno | Are transcription and splicing connected? | [
"Yes. There is strong evidence that splicing and transcription are intimately coupled in metazoans, with genome wide surveys show that most splicing occurs during transcription. Chromatin structure, RNA polymerase dynamics, and recruitment of splicing factors through the transcriptional machinery are factors that explain a role for transcription in the regulation of splicing."
] | [
"yes"
] | [
", as splicing is often cotranscriptional, a complex picture emerges in which splicing regulation not only depends on the balance of splicing factor binding to their pre-mRNA target sites but also on transcription-associated features such as protein recruitment to the transcribing machinery and elongation kinetics.",
"recent evidence shows that chromatin structure is another layer of regulation that may act through various mechanisms",
"hese span from regulation of RNA polymerase II elongation, which ultimately determines splicing decisions, to splicing factor recruitment by specific histone marks.",
"Chromatin may not only be involved in alternative splicing regulation but in constitutive exon recognition as well",
"Moreover, splicing was found to be necessary for the proper 'writing' of particular chromatin signatures, giving further mechanistic support to functional interconnections between splicing, transcription and chromatin structure.",
"These links between chromatin configuration and splicing raise the intriguing possibility of the existence of a memory for splicing patterns to be inherited through epigenetic modifications.",
"Spliceosome assembly occurs co-transcriptionally, raising the possibility that DNA structure may directly influence alternative splicing.",
"upporting such an association, recent reports have identified distinct histone methylation patterns, elevated nucleosome occupancy and enriched DNA methylation at exons relative to introns",
"Moreover, the rate of transcription elongation has been linked to alternative splicing.",
"ere we provide the first evidence that a DNA-binding protein, CCCTC-binding factor (CTCF), can promote inclusion of weak upstream exons by mediating local RNA polymerase II pausing both in a mammalian model system for alternative splicing, CD45, and genome-wide",
"We recently showed that cotranscriptional splicing occurs efficiently in Drosophila,",
"In recent years it became apparent that splicing is predominantly cotranscriptional",
"To determine the prevalence of cotranscriptional splicing in Drosophila, we sequenced nascent RNA transcripts from Drosophila S2 cells as well as from Drosophila heads. Eighty-seven percent of the introns assayed manifest >50% cotranscriptional splicing. The remaining 13% are cotranscriptionally spliced poorly or slowly, with ∼3% being almost completely retained in nascent pre-mRNA.",
"We estimate that > or =90% of endogenous yeast splicing is posttranscriptional, consistent with an analysis of posttranscriptional snRNP-associated pre-mRNA.",
"Notably, the topoisomerase I inhibitor camptothecin, which stalls elongating Pol II, increased cotranscriptional splicing factor accumulation and splicing in parallel. This provides direct evidence for a kinetic link between transcription, splicing factor recruitment and splicing catalysis.",
"Recent evidence indicates that transcriptional elongation and splicing can be influenced reciprocally: Elongation rates control alternative splicing and splicing factors can, in turn, modulate pol II elongation.",
"The presence of transcription factors in the spliceosome and the existence of proteins, such as the coactivator PGC-1, with dual activities in splicing and transcription can explain the links between both processes and add a new level of complexity to the regulation of gene expression in eukaryotes."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/20808788",
"http://www.ncbi.nlm.nih.gov/pubmed/23074139",
"http://www.ncbi.nlm.nih.gov/pubmed/23097425",
"http://www.ncbi.nlm.nih.gov/pubmed/17189193",
"http://www.ncbi.nlm.nih.gov/pubmed/21964334",
"http://www.ncbi.nlm.nih.gov/pubmed/16921380",
"http://www.ncbi.nlm.nih.gov/pubmed/15870275",
"http://www.ncbi.nlm.nih.gov/pubmed/22479188",
"http://www.ncbi.nlm.nih.gov/pubmed/22975042",
"http://www.ncbi.nlm.nih.gov/pubmed/15905409",
"http://www.ncbi.nlm.nih.gov/pubmed/21095588",
"http://www.ncbi.nlm.nih.gov/pubmed/16172632",
"http://www.ncbi.nlm.nih.gov/pubmed/15383674",
"http://www.ncbi.nlm.nih.gov/pubmed/22156210",
"http://www.ncbi.nlm.nih.gov/pubmed/23209445",
"http://www.ncbi.nlm.nih.gov/pubmed/16769980"
] | [] | [] |
52bf19c503868f1b06000001 | factoid | What is the mode of inheritance of Facioscapulohumeral muscular dystrophy (FSHD)? | [
"Facioscapulohumeral muscular dystrophy has an autosomal dominant inheritance pattern."
] | [
"autosomal dominant"
] | [
"autosomal dominant FSHD1",
"Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease, characterized by an autosomal dominant mode of inheritance, facial involvement, and selectivity and asymmetry of muscle involvement.",
"Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant disorder characterized by weakness of the face, upper arm, shoulder, and lower limb musculature, with an onset between the first and third decades. ",
"Clinical diagnosis is made from the distinctive pattern of weakness, autosomal-dominant inheritance, and confirmed by genetic testing.",
" In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritance.",
"Facioscapulohumeral muscular dystrophy (FSHD) is a primary muscle disorder with autosomal dominant inheritance.",
"Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive myopathy with autosomal dominant inheritance remarkable for its early involvement of facial musculature.",
"Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) include onset of the disease in facial or shoulder girdle muscles, facial weakness in more than 50% of affected family members, autosomal dominant inheritance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses",
"Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant muscular disorder associated with a short (<35 kb) EcoRI/BlnI fragment resulting from deletion of an integral number of units of a 3.3-kb repeat located at 4q35.",
"In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families. ",
"In 139 families, dominant inheritance was observed in 97, a pattern compatible with germline mosaicism in 6, while sporadic cases were found in 36 families."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/10487912",
"http://www.ncbi.nlm.nih.gov/pubmed/15307599",
"http://www.ncbi.nlm.nih.gov/pubmed/10969520",
"http://www.ncbi.nlm.nih.gov/pubmed/19248726",
"http://www.ncbi.nlm.nih.gov/pubmed/10864616",
"http://www.ncbi.nlm.nih.gov/pubmed/7739631",
"http://www.ncbi.nlm.nih.gov/pubmed/22551571",
"http://www.ncbi.nlm.nih.gov/pubmed/22525183",
"http://www.ncbi.nlm.nih.gov/pubmed/21795275",
"http://www.ncbi.nlm.nih.gov/pubmed/23573591"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D040582",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D014918"
] |
54db1d580f63c58e6e000005 | yesno | Is Alu hypomethylation associated with breast cancer? | [
"Yes, Alu elements were found to be hypomethylated in breast cancer, especially in the HER2-enriched subtype. Furthermore, Alu hypomethylation was identified as a late event during breast cancer progression, and in invasive breast cancer, tended to be associated with negative estrogen receptor status and poor disease-free survival of the patients.",
"Alu and LINE-1 hypomethylation is associated with HER2 enriched subtype of breast cancer "
] | [
"yes"
] | [
"Alu and LINE-1 hypomethylation is associated with HER2 enriched subtype of breast cancer",
"In IBC, Alu hypomethylation correlated with negative estrogen receptor (ER) status",
"In survival analyses, low Alu methylation status tended to be associated with poor disease-free survival of the patients.",
"Alu hypomethylation is probably a late event during breast cancer progression",
"prominent hypomethylation of Alu and LINE-1 in HER2 enriched subtype may be related to chromosomal instability of this specific subtype.",
"DNA methylation for three repetitive elements (LINE1, Sat2 and Alu) were analyzed in invasive ductal carcinoma of the breast, paired adjacent normal tissue and WBC from 40 breast cancer patients",
"DNA methylation for the three repetitive elements was lower in tumor compared to adjacent tissue and WBC DNA."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/20682973",
"http://www.ncbi.nlm.nih.gov/pubmed/24971511"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:1612"
] |
54f9d3eedd3fc62544000004 | list | Which proteins participate in the formation of the ryanodine receptor quaternary macromolecular complex? | [
"Junctin is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum, which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), triadin, and calsequestrin. ",
"Calsequestrin (CSQ) is a Ca(2+) storage protein that interacts with triadin (TRN), the ryanodine receptor (RyR), and junctin (JUN) to form a macromolecular tetrameric Ca(2+) signaling complex in the cardiac junctional sarcoplasmic reticulum (SR). Junctin, calsequestrin, triadin, and the ryanodine receptor form a quaternary complex that may be required for normal operation of Ca2+ release."
] | [
"Ryanodine receptor",
"RyR",
"Calsequestrin",
"CASQ",
"CSQ",
"Triadin",
"TrD",
"TRN",
"Junctin",
"JCN",
"JnC",
"JUN"
] | [
"Calsequestrin (CSQ) is a Ca(2+) storage protein that interacts with triadin (TRN), the ryanodine receptor (RyR), and junctin (JUN) to form a macromolecular tetrameric Ca(2+) signaling complex in the cardiac junctional sarcoplasmic reticulum (SR).",
"The decrease of CASQ2 is associated with a reduction in the levels of Triadin (TrD) and Junctin (JnC), two proteins that form, with CASQ2 and RyR2, a macromolecular complex devoted to control of calcium release from the sarcoplasmic reticulum.",
"Triadin and junctin are integral sarcoplasmic reticulum membrane proteins that form a macromolecular complex with the skeletal muscle ryanodine receptor (RyR1) but their roles in skeletal muscle calcium homeostasis remain incompletely understood.",
"Junctin, a 26 kDa intra-sarcoplasmic reticulum (SR) protein, forms a quaternary complex with triadin, calsequestrin and the ryanodine receptor (RyR) at the junctional SR membrane. ",
"In cardiac muscle, junctin forms a quaternary protein complex with the ryanodine receptor (RyR), calsequestrin, and triadin 1 at the luminal face of the junctional sarcoplasmic reticulum (jSR). By binding directly the RyR and calsequestrin, junctin may mediate the Ca(2+)-dependent regulatory interactions between both proteins.",
"Calsequestrin, the major calcium sequestering protein in the sarcoplasmic reticulum of muscle, forms a quaternary complex with the ryanodine receptor calcium release channel and the intrinsic membrane proteins triadin and junctin. ",
"Junctin is a transmembrane protein of the cardiac junctional sarcoplasmic reticulum (SR) that binds to the ryanodine receptor, calsequestrin, and triadin 1. This quaternary protein complex is thought to facilitate SR Ca2+ release.",
"In mammalian striated muscles, ryanodine receptor (RyR), triadin, junctin, and calsequestrin form a quaternary complex in the lumen of sarcoplasmic reticulum. Such intermolecular interactions contribute not only to the passive buffering of sarcoplasmic reticulum luminal Ca2+, but also to the active Ca2+ release process during excitation-contraction coupling. ",
"Junctin is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum, which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), triadin, and calsequestrin. ",
"Triadin 1 is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum (SR), which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), junctin, and calsequestrin.",
"Several key proteins have been localized to junctional sarcoplasmic reticulum which are important for Ca2+ release. These include the ryanodine receptor, triadin, and calsequestrin, which may associate into a stable complex at the junctional membrane. We recently purified and cloned a fourth component of this complex, junctin, which exhibits homology with triadin and is the major 125I-calsequestrin-binding protein detected in cardiac sarcoplasmic reticulum vesicles",
"By a combination of approaches including calsequestrin-affinity chromatography, filter overlay, immunoprecipitation assays, and fusion protein binding analyses, we find that junctin binds directly to calsequestrin, triadin, and the ryanodine receptor. ",
"Taken together, these results suggest that junctin, calsequestrin, triadin, and the ryanodine receptor form a quaternary complex that may be required for normal operation of Ca2+ release.",
"Calsequestrin, the major calcium sequestering protein in the sarcoplasmic reticulum of muscle, forms a quaternary complex with the ryanodine receptor calcium release channel and the intrinsic membrane proteins triadin and junctin.",
"Junctin, a 26 kDa intra-sarcoplasmic reticulum (SR) protein, forms a quaternary complex with triadin, calsequestrin and the ryanodine receptor (RyR) at the junctional SR membrane.",
"Junctin (JCN), a 26-kd sarcoplasmic reticulum (SR) transmembrane protein, forms a quaternary protein complex with the ryanodine receptor, calsequestrin, and triadin in the SR lumen of cardiac muscle.",
"Junctin (JCN), a 26-kd sarcoplasmic reticulum (SR) transmembrane protein, forms a quaternary protein complex with the ryanodine receptor, calsequestrin, and triadin in the SR lumen of cardiac muscle",
"Calsequestrin, the major calcium sequestering protein in the sarcoplasmic reticulum of muscle, forms a quaternary complex with the ryanodine receptor calcium release channel and the intrinsic membrane proteins triadin and junctin",
"Junctin is a major transmembrane protein in cardiac junctional sarcoplasmic reticulum, which forms a quaternary complex with the ryanodine receptor (Ca(2+) release channel), triadin, and calsequestrin."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/12909320",
"http://www.ncbi.nlm.nih.gov/pubmed/11069905",
"http://www.ncbi.nlm.nih.gov/pubmed/15205169",
"http://www.ncbi.nlm.nih.gov/pubmed/22298808",
"http://www.ncbi.nlm.nih.gov/pubmed/22025663",
"http://www.ncbi.nlm.nih.gov/pubmed/18620751",
"http://www.ncbi.nlm.nih.gov/pubmed/18206802",
"http://www.ncbi.nlm.nih.gov/pubmed/16289269",
"http://www.ncbi.nlm.nih.gov/pubmed/15731387",
"http://www.ncbi.nlm.nih.gov/pubmed/14638677",
"http://www.ncbi.nlm.nih.gov/pubmed/9287354",
"http://www.ncbi.nlm.nih.gov/pubmed/22427521"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0065003",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D020836",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D019837"
] |
5505edac8e1671127b000005 | factoid | What kind of chromatography is HILIC? | [
"Hydrophilic Interaction Chromatography (HILIC)"
] | [
"Hydrophilic Interaction Chromatography"
] | [
"hydrophilic interaction liquid chromatography-tandem mass spectrometry (HILIC LC-MS/MS) method",
"Hydrophilic-interaction liquid chromatography (HILIC) is a widely used technique for small polar molecule analysis ",
"hydrophilic-interaction LC (HILIC)",
"A hydrophilic interaction liquid chromatography-tandem mass spectrometry (HILIC LC-MS/MS) method ",
"Hydrophilic Interaction Chromatography (HILIC) ",
"n this study a hydrophilic interaction chromatographic (HILIC) method "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21737084",
"http://www.ncbi.nlm.nih.gov/pubmed/23217321",
"http://www.ncbi.nlm.nih.gov/pubmed/22946920",
"http://www.ncbi.nlm.nih.gov/pubmed/23073287",
"http://www.ncbi.nlm.nih.gov/pubmed/21238772",
"http://www.ncbi.nlm.nih.gov/pubmed/21316059"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D002845"
] |
5160193d298dcd4e51000039 | summary | What is the effect of TRH on myocardial contractility? | [
"TRH improves myocardial contractility"
] | [] | [
"Acute intravenous administration of TRH to rats with ischemic cardiomyopathy caused a significant increase in heart rate, mean arterial pressure, cardiac output, stroke volume, and cardiac contractility",
"TRH can enhance cardiomyocyte contractility in vivo.",
"TRH in the range of 0.1-10 mumol/l was found to exert a positive inotropic effect on cardiac contractility",
"Thyrotropin-releasing hormone (TRH) improved mean arterial pressure (MAP) and myocardial contractility (dp/dtmax, -dp/dtmax, Vpm, and Vmax)",
"TRH improves cardiac contractility, cardiac output, and hemodynamics",
"Thyrotropin-releasing hormone (TRH) could improve mean arterial pressure (MAP), myocardial contractile parameters (+/- dp/dtmax, Vpm and Vmax)",
"TRH increased the contractile force of muscles dose-dependently without changing the time course of contraction",
"TRH potentiated the response of contractile force to increasing extracellular Ca2+ concentration.",
"TRH has a positive inotropic effect at least partly due to an increase in the slow inward Ca2+ current",
"Thus, TRH improves cardiac contractility, cardiac output, and hemodynamics during hemorrhagic shock."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/9225129",
"http://www.ncbi.nlm.nih.gov/pubmed/1979356",
"http://www.ncbi.nlm.nih.gov/pubmed/9088928",
"http://www.ncbi.nlm.nih.gov/pubmed/15096458",
"http://www.ncbi.nlm.nih.gov/pubmed/2848686",
"http://www.ncbi.nlm.nih.gov/pubmed/1611701"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=0008437",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003285",
"http://www.uniprot.org/uniprot/TRFR_MOUSE",
"http://www.uniprot.org/uniprot/TRFR_CHICK",
"http://www.disease-ontology.org/api/metadata/DOID:114",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006331",
"http://www.uniprot.org/uniprot/TRFR_SHEEP",
"http://www.uniprot.org/uniprot/TRFR_RAT",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006321",
"http://www.biosemantics.org/jochem#4254151",
"http://www.uniprot.org/uniprot/TRFR_HUMAN",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009200",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013973",
"http://www.uniprot.org/uniprot/TRFR_BOVIN"
] |
51593dc8d24251bc05000099 | yesno | Proteomic analyses need prior knowledge of the organism complete genome. Is the complete genome of the bacteria of the genus Arthrobacter available? | [
"Yes, the complete genome sequence of Arthrobacter (two strains) is deposited in GenBank."
] | [
"yes"
] | [] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21677849",
"http://www.ncbi.nlm.nih.gov/pubmed/23039946"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001173",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016678"
] |
56e2cec751531f7e33000015 | factoid | What is the structural fold of bromodomain proteins? | [
"The structure fold of the bromodomains is an all-alpha-helical fold, which includes a left-handed four-helix bundle topology, with two short additional helices in a long connecting loop."
] | [
"All-alpha-helical fold"
] | [
"These new studies also support the notion that functional diversity of a conserved bromodomain structural fold is achieved by evolutionary changes of structurally flexible amino-acid sequences in the ligand binding site such as the ZA and BC loops.",
"Although the overall fold resembles the bromodomains from other proteins, significant differences can be found in loop regions, especially in the ZA loop in which a two amino acids insertion is involved in an uncommon pi-helix, termed piD",
"In addition to a typical all-alpha-helical fold that was observed in the bromodomains, we observed for the first time a small beta-sheet in the ZA loop region of the BRG1 protein.",
"Here, we report the crystal structure of the N-terminal bromodomain (BD1, residues 74-194) of human BRD2.",
"This is the first observation of a homodimer among the known bromodomain structures, through the buried hydrophobic core region at the interface.",
"The Brg1 bromodomain conserves the left-handed, four-helix bundle topology found in other bromodomain structures. However, the alphaZ helix of Brg1 bromodomain is about 4 residues shorter relative to previously published bromodomain structures.",
"Here, we report the solution structure of BRD7 bromodomain determined by NMR spectroscopy, and its binding specificity revealed by NMR titration with several acetylated histone peptides.",
"The 2.1 angstrom crystal structure of the double bromodomain reveals two side-by-side, four-helix bundles with a highly polarized surface charge distribution",
"The structure has a left-handed four-helix bundle topology, with two short additional helices in a long connecting loop.",
"The structure reveals an unusual left-handed up-and-down four-helix bundle. ",
"In addition to a typical all-alpha-helical fold that was observed in the bromodomains, we observed for the first time a small beta-sheet in the ZA loop region of the BRG1 protein.",
"In addition to a typical all-alpha-helical fold that was observed in the bromodomains,"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/17498659",
"http://www.ncbi.nlm.nih.gov/pubmed/10365964",
"http://www.ncbi.nlm.nih.gov/pubmed/17694091",
"http://www.ncbi.nlm.nih.gov/pubmed/10827952",
"http://www.ncbi.nlm.nih.gov/pubmed/17148447",
"http://www.ncbi.nlm.nih.gov/pubmed/17582821",
"http://www.ncbi.nlm.nih.gov/pubmed/11090279",
"http://www.ncbi.nlm.nih.gov/pubmed/17274598",
"http://www.ncbi.nlm.nih.gov/pubmed/17848202"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011506"
] |
515deafd298dcd4e51000025 | list | List the endoscopic diagnoses that have been reported in children with autism | [
"Endoscopic examinations in autistic children have been reported to show : I or II reflux esophagitis, Achalasia, chronic gastritis and chronic duodenitis, mild acute and chronic inflammation of the small bowel and colorectum and Ileo-colonic lymphoid nodular hyperplasia (LNH). \nThe number of Paneth's cells in the duodenal crypts was found to be significantly elevated in autistic children compared with non-autistic control subjects. Low intestinal carbohydrate digestive enzyme activity was reported although there was no abnormality found in pancreatic function. Autistic children have ben reported to have an increased pancreatico-biliary fluid output after intravenous secretin administration."
] | [
"Reflux esophagitis",
"Achalasia",
"chronic gastritis",
"chronic duodenitis",
"inflammation of the small bowel and colorectum",
"Ileo-colonic lymphoid nodular hyperplasia (LNH)"
] | [
"Autism and esophageal achalasia in childhood: a possible correlation?",
"In the last case, a 15-year-old male underwent barium swallow and endoscopy that confirmed achalasia.",
"Intestinal mucosal pathology, characterized by ileo-colonic lymphoid nodular hyperplasia (LNH) and mild acute and chronic inflammation of the colorectum, small bowel and stomach, has been reported in children with autistic spectrum disorder (ASD)",
"Ileo-colonic LNH is a characteristic pathological finding in children with ASD and gastrointestinal symptoms, and is associated with mucosal inflammation.",
"The data support the hypothesis that LNH is a significant pathological finding in ASD children.",
"A relationship between autism and gastrointestinal (GI) immune dysregulation has been postulated based on incidence of GI complaints as well as macroscopically observed lymphonodular hyperplasia and microscopically determined enterocolitis in pediatric patients with autism.",
"These data fail to support an association between autism and GI inflammation.",
"Intestinal pathology, i.e., ileocolonic lymphoid nodular hyperplasia (LNH) and mucosal inflammation, has been described in children with developmental disorders.",
"This study describes some of the endoscopic and pathological characteristics in a group of children with developmental disorders (affected children) that are associated with behavioral regression and bowel symptoms, and compares them with pediatric controls. METHODS: Ileocolonoscopy and biopsy were performed on 60 affected children (median age 6 yr, range 3-16; 53 male). Developmental diagnoses were autism (50 patients), Asperger's syndrome (five), disintegrative disorder (two), attention deficit hyperactivity disorder (ADHD) (one), schizophrenia (one), and dyslexia (one).",
"Ileal LNH was present in 54 of 58 (93%) affected children and in five of 35 (14.3%) controls (p < 0.001). Colonic LNH was present in 18 of 60 (30%) affected children and in two of 37 (5.4%) controls (p < 0.01). Histologically, reactive follicular hyperplasia was present in 46 of 52 (88.5%) ileal biopsies from affected children and in four of 14 (29%) with UC, but not in non-IBD controls (p < 0.01). Active ileitis was present in four of 51 (8%) affected children but not in controls. Chronic colitis was identified in 53 of 60 (88%) affected children compared with one of 22 (4.5%) controls and in 20 of 20 (100%) with UC",
"Thirty-six children (age: 5.7 +/- 2 years, mean +/- SD) with autistic disorder underwent upper gastrointestinal endoscopy with biopsies, intestinal and pancreatic enzyme analyses, and bacterial and fungal cultures",
"Histologic examination in these 36 children revealed grade I or II reflux esophagitis in 25 (69.4%), chronic gastritis in 15, and chronic duodenitis in 24. The number of Paneth's cells in the duodenal crypts was significantly elevated in autistic children compared with non-autistic control subjects. Low intestinal carbohydrate digestive enzyme activity was reported in 21 children (58.3%), although there was no abnormality found in pancreatic function. Seventy-five percent of the autistic children (27/36) had an increased pancreatico-biliary fluid output after intravenous secretin administration. Nineteen of the 21 patients with diarrhea had significantly higher fluid output than those without diarrhea.",
"Unrecognized gastrointestinal disorders, especially reflux esophagitis and disaccharide malabsorption, may contribute to the behavioral problems of the non-verbal autistic patients. The observed increase in pancreatico-biliary secretion after secretin infusion suggests an upregulation of secretin receptors in the pancreas and liver.",
"three children with autistic spectrum disorders who underwent upper gastrointestinal endoscopy and intravenous administration of secretin to stimulate pancreaticobiliary secretion. All three had an increased pancreaticobiliary secretory response when compared with nonautistic patients ("
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/11007230",
"http://www.ncbi.nlm.nih.gov/pubmed/22607127",
"http://www.ncbi.nlm.nih.gov/pubmed/16003132",
"http://www.ncbi.nlm.nih.gov/pubmed/9585670",
"http://www.ncbi.nlm.nih.gov/pubmed/10547242",
"http://www.ncbi.nlm.nih.gov/pubmed/12907332"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:12849",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D001321",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016099",
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D004724"
] |
532624ae600967d132000005 | summary | What are the outcomes of Renal sympathetic denervation? | [
"Significant decreases and progressively higher reductions of systolic and diastolic blood pressure were observed after RSD. The complication rate was minimal.\nRenal sympathetic denervation also reduces heart rate, which is a surrogate marker of cardiovascular risk."
] | [] | [
"Significant decreases and progressively higher reductions of systolic and diastolic blood pressure were observed after RSD. The complication rate was minimal. ",
"In conclusion, the RSD presents itself as an effective and safe approach to resistant hypertension.",
"Renal sympathetic denervation delivers not only a decrease in blood pressure levels but also renal as well as systemic sympathetic nerve activity. The reduction in blood pressure appears to be sustained over 3 years after the procedure, which implies no counterregulatory mechanism or re-innervation of afferent renal sympathetic nerve so far.",
"Renal sympathetic denervation not only reduces blood pressure but also renal as well as systemic sympathetic nerve activity in such patients. The reduction in blood pressure appears to be sustained over 3 years after the procedure, which suggests absence of re-innervation of renal sympathetic nerves. Safety appears to be adequate.",
"Clinical trials of renal sympathetic denervation have shown significant reductions in blood pressure in these patients. Renal sympathetic denervation also reduces heart rate, which is a surrogate marker of cardiovascular risk. ",
"Small studies suggest that RSD can produce dramatic blood pressure reductions: In the randomized Symplicity HTN-2 trial of 106 patients, the mean fall in blood pressure at 6 months in patients who received the treatment was 32/12 mm Hg. However, there are limitations to the evidence for RSD in the treatment of resistant hypertension. These include the small number of patients studied; the lack of any placebo-controlled evidence; the fact that blood pressure outcomes were based on office assessments, as opposed to 24-hour ambulatory monitoring; the lack of longer-term efficacy data; and the lack of long-term safety data.",
"Clinical evaluation of selective renal sympathetic denervation demonstrated a decrease of renal norepinephrine spillover and renin activity, an increase of renal plasma flow, and has confirmed clinically significant, sustained reductions in blood pressure in patients with resistant hypertension.",
"In addition to drug treatment, baroreceptor stimulation therapy and renal sympathetic denervation are promising new approaches in this group of patients.",
"Early clinical evaluation with catheter-based, selective renal sympathetic denervation in patients with resistant hypertension has mechanistically correlated sympathetic efferent denervation with decreased renal norepinephrine spillover and renin activity, increased renal plasma flow, and has demonstrated clinically significant, sustained reductions in blood pressure. The SYMPLICITY HTN-3 Trial is a pivotal study designed as a prospective, randomized, masked procedure, single-blind trial evaluating the safety and effectiveness of catheter-based bilateral renal denervation for the treatment of uncontrolled hypertension despite compliance with at least 3 antihypertensive medications of different classes (at least one of which is a diuretic) at maximal tolerable doses.",
"Novel procedure- and device-based strategies to control hypertension include renal sympathetic denervation and baroreflex sensitization."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/21247927",
"http://www.ncbi.nlm.nih.gov/pubmed/22573363",
"http://www.ncbi.nlm.nih.gov/pubmed/23176687",
"http://www.ncbi.nlm.nih.gov/pubmed/23541665",
"http://www.ncbi.nlm.nih.gov/pubmed/23774592",
"http://www.ncbi.nlm.nih.gov/pubmed/24029963",
"http://www.ncbi.nlm.nih.gov/pubmed/23890950",
"http://www.ncbi.nlm.nih.gov/pubmed/23514712",
"http://www.ncbi.nlm.nih.gov/pubmed/23819768"
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"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D013562",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D003714",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012077"
] |
5518e7da622b194345000004 | factoid | Which MAP kinase phosphorylates the transcription factor c-jun? | [
"c-Jun is phosphorylated by c-Jun NH2-terminal kinase (JNK).",
"An in vitro kinase assay revealed that c-Jun phosphorylation is primarily mediated via activated c-Jun N-terminal protein kinase (JNK)."
] | [
"c-Jun NH2-terminal kinase",
"JNK"
] | [
" c-Jun NH2-terminal kinase (JNK)",
" c-jun N-terminal kinase (JNK) of mitogen-activated protein kinase (MAPK) family ",
"-Jun N-terminal kinase (JNK)",
"activated c-Jun N-terminal kinase (JNK)",
"-Jun N-terminal kinase (JNK) mitogen-activated protein kinase (MAPK) signaling pathways",
" c-Jun N-terminal kinases (JNK) ",
" including c-Jun N-terminal kinase, c-Jun",
"The c-Jun N-terminal kinase (JNK) is thought to be involved in inflammation, proliferation and apoptosis. ",
" c-Jun NH2-terminal protein kinases (JNK), ",
" c-Jun N-terminal kinase (JNK) phosphorylation, c-Jun phosphorylation",
"JNK phosphorylated recombinant c-Jun at T91/T93 in a T95-dependent manner",
" c-Jun N-terminal kinase (JNK) MAPKs (mitogen-activated protein kinases)",
"c-Jun N-terminal kinases (JNKs) are a group of mitogen-activated protein kinase family members that are important in regulating cell growth, proliferation, and apoptosis.",
"Jun and Fos transcriptional activities are also regulated by phosphorylation as a result of the activation of intracellular signaling cascades. In this regard, the phosphorylation of c-Jun by UV-induced JNK has been readily documented, whereas a role for Fos proteins in UV-mediated responses and the identification of Fos-activating kinases has remained elusive",
"An in vitro kinase assay revealed that the resultant c-Jun phosphorylation was primarily mediated via activated c-Jun N-terminal protein kinase (JNK).",
"The c-Jun N-terminal kinase (JNK) pathway forms part of the mitogen-activated protein kinase (MAPK) signaling pathways comprising a sequential three-tiered kinase cascade. ",
"The c-Jun N-terminal kinases (JNKs) are members of the mitogen-activated protein kinase (MAPK) family and are activated by environmental stress.",
"JNK phosphorylates and regulates the activity of transcription factors other than c-Jun, including ATF2, Elk-1, p53 and c-Myc and non-transcription factors, such as members of the Bcl-2 family.",
"A candidate for this extended family of MAP kinases is the c-Jun NH2-terminal kinase (Jnk), which binds to and phosphorylates the transcription factor c-Jun at the activating sites Ser-63 and Ser-73.",
"An in vitro kinase assay revealed that the resultant c-Jun phosphorylation was primarily mediated via activated c-Jun N-terminal protein kinase (JNK)",
"A candidate for this extended family of MAP kinases is the c-Jun NH2-terminal kinase (Jnk), which binds to and phosphorylates the transcription factor c-Jun at the activating sites Ser-63 and Ser-73"
] | [
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"http://www.ncbi.nlm.nih.gov/pubmed/24300195",
"http://www.ncbi.nlm.nih.gov/pubmed/24272171",
"http://www.ncbi.nlm.nih.gov/pubmed/24291243",
"http://www.ncbi.nlm.nih.gov/pubmed/24252081",
"http://www.ncbi.nlm.nih.gov/pubmed/15228586",
"http://www.ncbi.nlm.nih.gov/pubmed/23028407",
"http://www.ncbi.nlm.nih.gov/pubmed/24285252",
"http://www.ncbi.nlm.nih.gov/pubmed/23385061",
"http://www.ncbi.nlm.nih.gov/pubmed/24321566",
"http://www.ncbi.nlm.nih.gov/pubmed/23147205",
"http://www.ncbi.nlm.nih.gov/pubmed/8607977",
"http://www.ncbi.nlm.nih.gov/pubmed/24139673",
"http://www.ncbi.nlm.nih.gov/pubmed/24321066",
"http://www.ncbi.nlm.nih.gov/pubmed/15637069",
"http://www.ncbi.nlm.nih.gov/pubmed/24270002",
"http://www.ncbi.nlm.nih.gov/pubmed/24144051",
"http://www.ncbi.nlm.nih.gov/pubmed/15708845"
] | [] | [
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007257",
"http://amigo.geneontology.org/cgi-bin/amigo/term_details?term=GO:0007258",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D016755"
] |
530a5117970c65fa6b000007 | factoid | What is the meaning of the acronym "TAILS" used in protein N-terminomics? | [
"TAILS stands for \"Terminal Amine Isotopic Labeling of Substrates\""
] | [
"TAILS: Terminal Amine Isotopic Labeling of Substrates"
] | [
". It is important to identify what proteins are substrates of proteases and where their cleavage sites are so as to reveal the molecular mechanisms and specificity of signaling. ",
"It is important to identify what proteins are substrates of proteases and where their cleavage sites are so as to reveal the molecular mechanisms and specificity of signaling.",
"analysis of N- terminomics data generated by terminal amine isotopic labeling of substrates (TAILS) enables high confidence peptide to protein assignment, protein N-terminal characterization and annotation, and for protease analysis readily allows protease substrate discovery with high confidence.",
"Several approaches to studying proteolytic activity as it relates to biology, pathophysiology, and drug therapy have been published, including the recently described terminal amine isotopic labeling of substrates (TAILS) strategy by Kleifeld and colleagues",
" The degradomics screen terminal amine isotopic labeling of substrates (TAILS), which enriches for neo-N-terminal peptides of cleaved substrates, was used to identify 58 new native substrates in fibroblast secretomes after incubation with MT6-MMP. ",
" Here we present in detail the steps required to perform our recently described approach we call Terminal Amine Isotopic Labeling of Substrates (TAILS), a combined N-terminomics and protease substrate discovery degradomics platform for the simultaneous quantitative and global analysis of the N-terminome and proteolysis in one MS/MS experiment. ",
"Identification of proteolytic products and natural protein N-termini by Terminal Amine Isotopic Labeling of Substrates (TAILS).",
" Incorporating iTRAQ whole protein labeling with terminal amine isotopic labeling of substrates (iTRAQ-TAILS) to enrich the N-terminome by negative selection of the blocked mature original N-termini and neo-N-termini has many advantages. "
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/22577022",
"http://www.ncbi.nlm.nih.gov/pubmed/23667905",
"http://www.ncbi.nlm.nih.gov/pubmed/21604129",
"http://www.ncbi.nlm.nih.gov/pubmed/20305284",
"http://www.ncbi.nlm.nih.gov/pubmed/22367194"
] | [] | [
"http://www.uniprot.org/uniprot/TERM_DROME",
"http://www.nlm.nih.gov/cgi/mesh/2014/MB_cgi?field=uid&exact=Find+Exact+Term&term=D011506"
] |
56bf365eef6e39474100000e | yesno | Do mutations of AKT1 occur in meningiomas? | [
"Yes, AKT1 mutation occurs in meningiomas."
] | [
"yes"
] | [
"The recent identification of somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of meningiomas.",
"A mutation in PIK3CA or AKT1 was found in around 9 % of the cases.",
"AKT1E17K mutations cluster with meningothelial and transitional meningiomas and can be detected by SFRP1 immunohistochemistry.",
"AKT1E17K mutations were exclusively seen in meningiomas and occurred in 65 of 958 of these tumors. A strong preponderance was seen in the variant of meningothelial meningioma WHO grade I of basal and spinal localization. In contrast, AKT1E17K mutations were rare in WHO grade II and absent in WHO grade III meningiomas. ",
"We observed strong up-regulation of SFRP1 expression in all meningiomas with AKT1E17K mutation and in HEK293 cells after transfection with mutant AKT1E17K, but not in meningiomas and HEK293 cells lacking this mutation.",
"SMO and AKT1 mutations occur in non-NF2 meningiomas.",
"Recurrent mutations in SMO and AKT1 are mutually exclusive with NF2 loss in meningioma.",
"Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations.",
" A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways.",
"Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.",
"A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways.",
"SMO and AKT1 mutations occur in non-NF2 meningiomas",
"The recent identification of somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in the development of meningiomas",
"A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways",
"Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO",
"Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations",
"Recurrent mutations in SMO and AKT1 are mutually exclusive with NF2 loss in meningioma",
"A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. These mutations were present in therapeutically challenging tumors of the skull base and higher grade. ",
"A subset of meningiomas lacking NF2 alterations harbored recurrent oncogenic mutations in AKT1 (p.Glu17Lys) and SMO (p.Trp535Leu) and exhibited immunohistochemical evidence of activation of these pathways. "
] | [
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"http://www.ncbi.nlm.nih.gov/pubmed/23475883",
"http://www.ncbi.nlm.nih.gov/pubmed/23348505",
"http://www.ncbi.nlm.nih.gov/pubmed/23334667",
"http://www.ncbi.nlm.nih.gov/pubmed/24096618",
"http://www.ncbi.nlm.nih.gov/pubmed/25857641"
] | [] | [
"http://www.biosemantics.org/jochem#4264173",
"http://www.disease-ontology.org/api/metadata/DOID:3565",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D009154",
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D008579"
] |
52bf202003868f1b06000018 | list | What are the main indications of lacosamide? | [
"Lacosamide is an anti-epileptic drug, licensed for refractory partial-onset seizures. In addition to this, it has demonstrated analgesic activity in various animal models. Apart from this, LCM has demonstrated potent effects in animal models for a variety of CNS disorders like schizophrenia and stress induced anxiety."
] | [
"epilepsy",
"refractory epilepsy",
"refractory partial-onset seizures",
"analgesic",
"CNS disorders"
] | [
"The current article presents a concise review of network theory and its application to the characterization of AED use in children with refractory epilepsy.",
"Furthermore, first generation AEDs were often discontinued, while lacosamide and topiramate were most likely to be initiated. ",
"Overall, there is compelling evidence that salivary TDM can be usefully applied so as to optimize the treatment of epilepsy with carbamazepine, clobazam, ethosuximide, gabapentin, lacosamide, lamotrigine, levetiracetam, oxcarbazepine, phenobarbital, phenytoin, primidone, topiramate, and zonisamide.",
"The first examples are carbamazepine, gabapentin, and lacosamide as drugs well established in epilepsy market as well as drug candidates such as valnoctamide, and other valproic acid derivatives, novel biphenyl pyrazole derivatives, etc.",
"Two additional AEDs, lacosamide and eslicarbazepine acetate, have been licensed recently for a more traditional indication, refractory partial-onset seizures. ",
"A discussion is made of recent findings that the atypical antidepressant tianeptine increases CRMP2 expression, whereas other, neuroactive small molecules including the epilepsy drug lacosamide and the natural brain metabolite lanthionine ketimine appear to bind CRMP2 directly with concomitant affects on neural structure.",
"Lacosamide (LCM) is a newer antiepileptic drug with a dual mode of action.",
" It has shown potent and broad neuroprotective effects in vitro and in vivo animal models making it a potential candidate for long term treatment of epilepsy. In addition to this, it has demonstrated analgesic activity in various animal models. Apart from this, LCM has demonstrated potent effects in animal models for a variety of CNS disorders like schizophrenia and stress induced anxiety. ",
"Clinical trials have also suggested that LCM is a safe, effective, and well tolerated adjunctive treatment for reduction of seizure frequency in patients with highly refractory, partial seizures.",
"Lacosamide (LCM), (SPM 927, (R)-2-acetamido-N-benzyl-3-methoxypropionamide, previously referred to as harkoseride or ADD 234037) is a member of a series of functionalized amino acids that were specifically synthesized as anticonvulsive drug candidates. LCM has demonstrated antiepileptic effectiveness in different rodent seizure models and antinociceptive potential in experimental animal models that reflect distinct types and symptoms of neuropathic as well as chronic inflammatory pain.",
"Recent results suggest that LCM has a dual mode of action underlying its anticonvulsant and analgesic activity.",
"Currently, LCM is in a late stage of clinical development as an adjunctive treatment for patients with uncontrolled partial-onset seizures, and it is being assessed as monotherapy in patients with painful diabetic neuropathy. ",
"Lacosamide was effective against sound-induced seizures in the genetically susceptible Frings mouse, against maximal electroshock test (MES)-induced seizures in rats and mice, in the rat hippocampal kindling model of partial seizures, and in the 6Hz model of psychomotor seizures in mice.",
"Lacosamide was inactive against clonic seizures induced by subcutaneous administration of the chemoconvulsants pentylenetetrazol, bicuculline, and picrotoxin, but it did inhibit NMDA-induced seizures in mice and showed full efficacy in the homocysteine model of epilepsy.",
"These results suggest that lacosamide may have the potential to be clinically useful for at least the treatment of generalized tonic-clonic and partial-onset epilepsies, and support ongoing clinical trials in these indications."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/23288091",
"http://www.ncbi.nlm.nih.gov/pubmed/17461888",
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"http://www.ncbi.nlm.nih.gov/pubmed/20677583",
"http://www.ncbi.nlm.nih.gov/pubmed/21861814",
"http://www.ncbi.nlm.nih.gov/pubmed/21301338",
"http://www.ncbi.nlm.nih.gov/pubmed/21271304",
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] | [
"http://www.biosemantics.org/jochem#4267957"
] |
552fac4fbc4f83e828000006 | factoid | Which fusion protein is involved in the development of Ewing sarcoma? | [
"Ewing sarcoma is the second most common bone malignancy in children and young adults. In almost 95% of the cases, it is driven by oncogenic fusion protein EWS/FLI1, which acts as an aberrant transcription factor, that upregulates or downregulates target genes, leading to cellular transformation."
] | [
"EWS/FLI1"
] | [
"Ewing sarcoma is the second most common bone malignancy in children and young adults. It is driven by oncogenic fusion proteins (i.e. EWS/FLI1) acting as aberrant transcription factors that upregulate and downregulate target genes, leading to cellular transformation",
"EWS/FLI-1 oncoprotein subtypes impose different requirements for transformation and metastatic activity in a murine model",
"Ewing sarcoma/primitive neuroectodermal tumors (EWS/PNET) are characterized by specific chromosomal translocations most often generating a chimeric EWS/FLI-1 gene",
"The resulting EWS-FLI-1 fusion protein is believed to behave as an aberrant transcriptional activator that contributes to ESFT development by altering the expression of its target genes in a permissive cellular environment",
"Herein, we show that the DNA repair protein and transcriptional cofactor, EYA3, is highly expressed in Ewing sarcoma tumor samples and cell lines compared with mesenchymal stem cells, the presumed cell-of-origin of Ewing sarcoma, and that it is regulated by the EWS/FLI1 fusion protein transcription factor",
"The orphan nuclear receptor DAX1 is up-regulated by the EWS/FLI1 oncoprotein and is highly expressed in Ewing tumors",
"The Ewing family of tumors harbors chromosomal translocations that join the N-terminal region of the EWS gene with the C-terminal region of several transcription factors of the ETS family, mainly FLI1, resulting in chimeric transcription factors that play a pivotal role in the pathogenesis of Ewing tumors. To identify downstream targets of the EWS/FLI1 fusion protein, we established 293 cells expressing constitutively either the chimeric EWS/FLI1 or wild type FLI1 proteins and used cDNA arrays to identify genes differentially regulated by EWS/FLI1",
"The high levels of DAX1 found in Ewing tumors and its potent transcriptional repressor activity suggest that the oncogenic effect of EWS/FLI1 may be mediated, at least in part, by the up-regulation of DAX1 expression",
"Herein, we show that the DNA repair protein and transcriptional cofactor, EYA3, is highly expressed in Ewing sarcoma tumor samples and cell lines compared with mesenchymal stem cells, the presumed cell-of-origin of Ewing sarcoma, and that it is regulated by the EWS/FLI1 fusion protein transcription factor.",
"Ewing sarcoma family tumors (ESFT) are highly aggressive and highly metastatic tumors caused by a chromosomal fusion between the Ewing sarcoma protein (EWS) with the transcription factor FLI-1.",
"EWS-FLI1 is a fusion protein that results from the pathognomonic translocation of Ewing sarcoma (ES).",
"Chromosomal translocation that results in fusion of the genes encoding RNA-binding protein EWS and transcription factor FLI1 (EWS-FLI1) is pathognomonic for Ewing sarcoma.",
"Eighty-five percent of Ewing sarcoma is characterized by the presence of the aberrant chimeric EWS/FLI1 fusion gene.",
"Blocking the road, stopping the engine or killing the driver? Advances in targeting EWS/FLI-1 fusion in Ewing sarcoma as novel therapy.",
"Fusion of the EWS gene to FLI1 produces a fusion oncoprotein that drives an aberrant gene expression program responsible for the development of Ewing sarcoma.",
"Mosaic expression of the human EWS-FLI1 fusion protein in zebrafish caused the development of tumors with histology strongly resembling that of human Ewings sarcoma.",
"Ewing sarcoma family of tumors (ESFT) is a group of aggressive pediatric malignancies driven by the EWS-FLI1 fusion protein, an aberrant transcription factor up-regulating specific target genes, such as neuropeptide Y (NPY) and its Y1 and Y5 receptors (Y5Rs).",
"Ewing sarcoma is primarily caused by a t(11;22) chromosomal translocation encoding the EWS-FLI1 fusion protein.",
"Herein, we show that the DNA repair protein and transcriptional cofactor, EYA3, is highly expressed in Ewing sarcoma tumor samples and cell lines compared with mesenchymal stem cells, the presumed cell-of-origin of Ewing sarcoma, and that it is regulated by the EWS/FLI1 fusion protein transcription factor.",
"The EWS-ETS fusion is causative in the development of Ewing's tumour.",
"The resulting EWS-FLI-1 fusion protein is believed to behave as an aberrant transcriptional activator that contributes to ESFT development by altering the expression of its target genes in a permissive cellular environment.",
"EWS-FLI1 is an oncogenic fusion protein implicated in the development of Ewing's sarcoma family tumors (ESFT)",
"Eighty-five percent of Ewing sarcoma is characterized by the presence of the aberrant chimeric EWS/FLI1 fusion gene",
"Chromosomal translocation that results in fusion of the genes encoding RNA-binding protein EWS and transcription factor FLI1 (EWS-FLI1) is pathognomonic for Ewing sarcoma",
"Together, our data reveal that EWSAT1 is a downstream target of EWS-FLI1 that facilitates the development of Ewing sarcoma via the repression of target genes",
"Thus, we developed a highly validated transcriptional profile for the EWS/FLI fusion protein and identified a critical target gene in Ewing's sarcoma development.",
"Our understanding of Ewing's sarcoma development mediated by the EWS/FLI fusion protein has been limited by a lack of knowledge regarding the tumor cell of origin",
"Ewing's sarcomas are characterized by recurrent chromosomal translocations expressing EWS-ETS fusion proteins, the most common of which is EWS-FLI.(1-5) EWS-FLI is an oncogenic transcription factor that regulates genes involved in tumorigenesis.(6,7) Because the Ewing's sarcoma cell of origin remains unknown, a variety of model systems have been developed to study EWS-FLI fusions,(8-14) and multiple microarray experiments describing potential EWS-FLI target genes have been reported.(8,10,11,13,15-21) Each model has potential benefits and drawbacks, but a large-scale comparison of these has not been reported",
"Most cases of Ewing's sarcoma express the EWS/FLI fusion protein"
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/25432018",
"http://www.ncbi.nlm.nih.gov/pubmed/21979944",
"http://www.ncbi.nlm.nih.gov/pubmed/16206264",
"http://www.ncbi.nlm.nih.gov/pubmed/18256529",
"http://www.ncbi.nlm.nih.gov/pubmed/25162919",
"http://www.ncbi.nlm.nih.gov/pubmed/19718047",
"http://www.ncbi.nlm.nih.gov/pubmed/22241085",
"http://www.ncbi.nlm.nih.gov/pubmed/24481407",
"http://www.ncbi.nlm.nih.gov/pubmed/17250957",
"http://www.ncbi.nlm.nih.gov/pubmed/25483190",
"http://www.ncbi.nlm.nih.gov/pubmed/20691659",
"http://www.ncbi.nlm.nih.gov/pubmed/22723308",
"http://www.ncbi.nlm.nih.gov/pubmed/23750284",
"http://www.ncbi.nlm.nih.gov/pubmed/16697960",
"http://www.ncbi.nlm.nih.gov/pubmed/25401475",
"http://www.ncbi.nlm.nih.gov/pubmed/17453169",
"http://www.ncbi.nlm.nih.gov/pubmed/18485618",
"http://www.ncbi.nlm.nih.gov/pubmed/23894528",
"http://www.ncbi.nlm.nih.gov/pubmed/21680731"
] | [] | [
"http://www.disease-ontology.org/api/metadata/DOID:3368",
"http://www.disease-ontology.org/api/metadata/DOID:4980",
"http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&exact=Find+Exact+Term&term=D012512"
] |
56be0da3ef6e394741000007 | list | List Hemolytic Uremic Syndrome Triad. | [
"Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of anaemia, thrombocytopenia, renal failure."
] | [
"anaemia",
"thrombocytopenia",
"renal failure"
] | [
"Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury.",
"Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure.",
"Atypical hemolytic uremic syndrome (aHUS) is a relatively rare disorder described by the triad of hemolytic anemia, thrombocytopenia, and renal failure.",
"Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric literature as a syndrome of the triad of renal failure, microangiopathic hemolytic anemia, and thrombocytopenia without a prodrome of hemorrhagic diarrhea, has received little attention in adult practice because the patients are commonly given the diagnosis of thrombotic thrombocytopenic purpura (TTP) or TTP/HUS and treated as TTP with plasma exchange, augmented in refractory cases with rituximab and sometimes even splenectomy. ",
"Atypical hemolytic uremic syndrome (aHUS) is rare and comprises the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. ",
"Hemolyitic uremic syndrome (HUS), characterized by triad of acute kidney injury, thrombocytopenia, and hemolytic anemia, has considerable morbidity and mortality and is known to be associated with diarrheal illness. ",
"Hemolytic uremic syndrome (HUS) is a rare thrombotic complication characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure.",
"Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric literature as a syndrome of the triad of renal failure, microangiopathic hemolytic anemia, and thrombocytopenia without a prodrome of hemorrhagic diarrhea, has received little attention in adult practice because the patients are commonly given the diagnosis of thrombotic thrombocytopenic purpura (TTP) or TTP/HUS and treated as TTP with plasma exchange, augmented in refractory cases with rituximab and sometimes even splenectomy.",
"Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure.",
"Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure.",
"The hemolytic-uremic syndrome consists of the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure.",
"Atypical hemolytic uremic syndrome (aHUS) is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment.",
"Hemolytic uremic syndrome is a rare condition compromising the clinical triad of acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia.",
"Hemolytic Uremic Syndrome (HUS) consists ofa triad of acquired hemolytic anemia, thrombocytopenia, and renal failure that occurs acutely in otherwise healthy individuals.",
"The hemolytic-uremic syndrome is a pathology characterized by a triad consisting of acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia, with complications of the central nervous system arising in a considerable number of cases.",
"Hemolytic uremic syndrome, one of the common causes of acute renal failure in children, is characterized by the triad of microangiopathy, haemolytic anemia, thrombocytopenia and acute renal failure.",
"Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure",
"Hemolytic uremic syndrome (HUS) is a rare thrombotic complication characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure",
"Hemolytic uremic syndrome (HUS) is a disorder characterized by the presence of the classic triad: microangiopathic hemolytic anemia, thrombocytopenia and acute renal injury",
"Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure",
"Hemolytic uremic syndrome (HUS) is a severe disease characterized by the clinical triad of hemolytic anemia, thrombocytopenia, and acute renal failure",
"Hemolytic uremic syndrome is a rare condition compromising the clinical triad of acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia",
"Hemolytic uremic syndrome is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure",
"Hemolytic uremic syndrome is a rare entity in patients with carcinoma and presents with a triad of renal insufficiency, microangiopathic hemolytic anemia, and thrombocytopenia",
"Hemolytic Uremic Syndrome (HUS) consists ofa triad of acquired hemolytic anemia, thrombocytopenia, and renal failure that occurs acutely in otherwise healthy individuals",
"Hemolytic Uremic Syndrome (HUS) consists ofa triad of acquired hemolytic anemia, thrombocytopenia, and renal failure that occurs acutely in otherwise healthy individuals. ",
"Acute renal insufficiency in the setting of hemolysis and thrombocytopenia, a triad that constitutes adult or pediatric hemolytic uremic syndrome, can be associated with or triggered by diverse conditions such as verocytotoxin-producing Escherichia coli, viral infections, pregnancy, malignant hypertension, scleroderma, renal radiation, allograft rejection, lupus erythematosus, and assorted medications such as mitomycin C, cyclosporine, and oral contraceptives.",
"Hemolytic uremic syndrome, one of the common causes of acute renal failure in children, is characterized by the triad of microangiopathy, haemolytic anemia, thrombocytopenia and acute renal failure. The diarrhoea-associated Hemolytic uremic syndrome is usually termed as a typical Hemolytic uremic syndrome."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/25011592",
"http://www.ncbi.nlm.nih.gov/pubmed/24161037",
"http://www.ncbi.nlm.nih.gov/pubmed/25765799",
"http://www.ncbi.nlm.nih.gov/pubmed/8589282",
"http://www.ncbi.nlm.nih.gov/pubmed/16387683",
"http://www.ncbi.nlm.nih.gov/pubmed/20209841",
"http://www.ncbi.nlm.nih.gov/pubmed/2831711",
"http://www.ncbi.nlm.nih.gov/pubmed/19227723",
"http://www.ncbi.nlm.nih.gov/pubmed/26265890",
"http://www.ncbi.nlm.nih.gov/pubmed/17705684",
"http://www.ncbi.nlm.nih.gov/pubmed/20865638",
"http://www.ncbi.nlm.nih.gov/pubmed/16006690",
"http://www.ncbi.nlm.nih.gov/pubmed/23380391",
"http://www.ncbi.nlm.nih.gov/pubmed/25345382",
"http://www.ncbi.nlm.nih.gov/pubmed/20499172",
"http://www.ncbi.nlm.nih.gov/pubmed/25280590",
"http://www.ncbi.nlm.nih.gov/pubmed/22956028",
"http://www.ncbi.nlm.nih.gov/pubmed/24516709",
"http://www.ncbi.nlm.nih.gov/pubmed/19625716",
"http://www.ncbi.nlm.nih.gov/pubmed/7487540",
"http://www.ncbi.nlm.nih.gov/pubmed/24548192"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2016/MB_cgi?field=uid&exact=Find+Exact+Term&term=D006463",
"http://www.disease-ontology.org/api/metadata/DOID:12554"
] |
5158644cd24251bc0500008e | yesno | Does physical activity influence gut hormones? | [
"Yes."
] | [
"yes"
] | [
"Increases in blood PYY(3-36) levels were dependent on the exercise intensity (effect of session: P<0.001 by two-way ANOVA), whereas those in GLP-1 levels were similar between two different exercise sessions.",
"A decrease in serum leptin levels (-48.4%, p < 0.001) was observed after intervention without changes in total peptide YY and insulin levels.",
"ur data suggest that the control of spontaneous physical activity by gut hormones or their neuropeptide targets may represent an important mechanistic component of energy balance regulation",
"Hunger and gut hormones remained unchanged during the bed rest.",
"weight-bearing exercise has a greater exercise-induced appetite suppressive effect compared with non-weight-bearing exercise, and both forms of exercise lowered acylated ghrelin and increased total PYY, but the changes did not differ significantly between exercise modes.",
"Appetite (P < 0.0005) and acylated ghrelin (P < 0.002) were suppressed during exercise but more so during SIE. Peptide YY increased during exercise but most consistently during END (P < 0.05). Acylated ghrelin was lowest in the afternoon of SIE (P = 0.018) despite elevated appetite",
"Following the pre-exercise meal, ghrelin was suppressed ~17% and insulin and PYY were elevated ~157 and ~40%, respectively, relative to fasting (day 7). Following exercise, PYY, ghrelin, and GH were significantly (p < 0.0001) increased by ~11, ~16 and ~813%, respectively. The noted disruption in the typical inverse relationship between ghrelin and PYY following exercise suggests that interaction of these peptides may be at least partially responsible for post-exercise appetite suppression",
"Plasma levels of PYY and GLP-1 were increased by exercise, whereas plasma ghrelin levels were unaffected by exercise",
"These findings suggest ghrelin and PYY may regulate appetite during and after exercise,",
"significant (P < 0.05) interaction effects for hunger, acylated ghrelin, and PYY, indicating suppressed hunger and acylated ghrelin during aerobic and resistance exercise and increased PYY during aerobic exercise",
"'exercise-induced anorexia' may potentially be linked to increased PYY, GLP-1 and PP levels.",
"Hunger scores and PYY, GLP-1 and PP levels showed an inverse temporal pattern during the 1-h exercise/control intervention",
"Exercise significantly increased mean PYY, GLP-1 and PP levels, and this effect was maintained during the post-exercise period for GLP-1 and PP. No significant effect of exercise was observed on postprandial levels of ghrelin",
"following blood donation the strenuous exercise resulted in a marked reduction in the plasma leptin",
"We conclude that strenuous physical exercise; 1) fails to affect plasma leptin level but when performed after meal but not after blood withdrawal it results in an increase and fall in plasma leptin, and 2) the release of gut hormones (gastrin, CCK and PP) and stress hormones (norepinephrine, cortisol, GH) increase immediately after exercise independently of feeding or blood donation",
"the unrestricted exercise group has a significantly elevated SRIF-LI concentration",
"Exercise has recently been reported to influence ghrelin and PYY concentrations."
] | [
"http://www.ncbi.nlm.nih.gov/pubmed/2888163",
"http://www.ncbi.nlm.nih.gov/pubmed/23402716",
"http://www.ncbi.nlm.nih.gov/pubmed/18987287",
"http://www.ncbi.nlm.nih.gov/pubmed/11321513",
"http://www.ncbi.nlm.nih.gov/pubmed/21554896",
"http://www.ncbi.nlm.nih.gov/pubmed/22619704",
"http://www.ncbi.nlm.nih.gov/pubmed/19158129",
"http://www.ncbi.nlm.nih.gov/pubmed/20061436",
"http://www.ncbi.nlm.nih.gov/pubmed/15795476",
"http://www.ncbi.nlm.nih.gov/pubmed/20690071",
"http://www.ncbi.nlm.nih.gov/pubmed/23111564",
"http://www.ncbi.nlm.nih.gov/pubmed/19737911",
"http://www.ncbi.nlm.nih.gov/pubmed/21615652",
"http://www.ncbi.nlm.nih.gov/pubmed/17470516",
"http://www.ncbi.nlm.nih.gov/pubmed/21927572",
"http://www.ncbi.nlm.nih.gov/pubmed/16942616"
] | [] | [
"http://www.nlm.nih.gov/cgi/mesh/2012/MB_cgi?field=uid&exact=Find+Exact+Term&term=D015444"
] |
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Mutilingual BioASQ-6B
We translate the BioASQ-6B English Question Answering dataset to generate parallel French, Italian and Spanish versions using the NLLB200 3B parameter model. For more info read the original task description: [http://bioasq.org/participate/challenges_year_6](http://bioasq.org/participate/challenges_year_6)
We translate the body, snippets, ideal_answer and exact_answer fields. We have validated the quality of the ideal_answer field, however, the exact_answer field can contain translation artifacts, as NLLB200 often produces low-quality translations of single-word sentences.
- 📖 Paper: Medical mT5: An Open-Source Multilingual Text-to-Text LLM for The Medical Domain. In LREC-COLING 2024
- 🌐 Project Website: https://univ-cotedazur.eu/antidote
- Original Dataset: http://bioasq.org/participate/challenges_year_6
- Funding: CHIST-ERA XAI 2019 call. Antidote (PCI2020-120717-2) funded by MCIN/AEI /10.13039/501100011033 and by European Union NextGenerationEU/PRTR
Citation
@proceedings{garcíaferrero2024medical,
title={Medical mT5: An Open-Source Multilingual Text-to-Text LLM for The Medical Domain},
author={Iker García-Ferrero and Rodrigo Agerri and Aitziber Atutxa Salazar and Elena Cabrio and Iker de la Iglesia and Alberto Lavelli and Bernardo Magnini and Benjamin Molinet and Johana Ramirez-Romero and German Rigau and Jose Maria Villa-Gonzalez and Serena Villata and Andrea Zaninello},
year={2024},
booktitle={Proceedings of LREC-COLING}
}
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