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PubMed:26513235 JSONTXT

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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
26513235-4#43#47#gene148022 609-613 gene148022 denotes TRIF
26513235-4#49#53#gene29110 615-619 gene29110 denotes TBK1
26513235-4#58#63#gene6772 624-629 gene6772 denotes STAT1
26513235-4#92#95#diseaseC0276226 658-661 diseaseC0276226 denotes HSE
26513235-7#198#202#gene7098 1416-1420 gene7098 denotes TLR3
26513235-7#183#186#diseaseC0276226 1401-1404 diseaseC0276226 denotes HSE
43#47#gene14802292#95#diseaseC0276226 26513235-4#43#47#gene148022 26513235-4#92#95#diseaseC0276226 associated_with TRIF,HSE
49#53#gene2911092#95#diseaseC0276226 26513235-4#49#53#gene29110 26513235-4#92#95#diseaseC0276226 associated_with TBK1,HSE
58#63#gene677292#95#diseaseC0276226 26513235-4#58#63#gene6772 26513235-4#92#95#diseaseC0276226 associated_with STAT1,HSE
198#202#gene7098183#186#diseaseC0276226 26513235-7#198#202#gene7098 26513235-7#183#186#diseaseC0276226 associated_with TLR3,HSE

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T984 609-613 gene:148022 denotes TRIF
T985 658-661 disease:C0276226 denotes HSE
R1 T984 T985 associated_with TRIF,HSE

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-102 Sentence denotes Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
TextSentencer_T2 103-259 Sentence denotes Herpes simplex encephalitis (HSE) in children has previously been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3.
TextSentencer_T3 260-391 Sentence denotes In the present study, we used whole-exome sequencing to investigate the genetic profile of 16 adult patients with a history of HSE.
TextSentencer_T4 392-565 Sentence denotes We identified novel mutations in IRF3, TYK2 and MAVS, molecules involved in generating innate antiviral immune responses, which have not previously been associated with HSE.
TextSentencer_T5 566-713 Sentence denotes Moreover, data revealed mutations in TLR3, TRIF, TBK1 and STAT1 known to be associated with HSE in children but not previously described in adults.
TextSentencer_T6 714-986 Sentence denotes All discovered mutations were heterozygous missense mutations, the majority of which were associated with significantly decreased antiviral responses to HSV-1 infection and/or the TLR3 agonist poly(I:C) in patient peripheral blood mononuclear cells compared with controls.
TextSentencer_T7 987-1217 Sentence denotes Altogether, this study demonstrates novel mutations in the TLR3 signaling pathway in molecules previously identified in children, suggesting that impaired innate immunity to HSV-1 may also increase susceptibility to HSE in adults.
TextSentencer_T8 1218-1429 Sentence denotes Importantly, the identification of mutations in innate signaling molecules not directly involved in TLR3 signaling suggests the existence of innate immunodeficiencies predisposing to HSE beyond the TLR3 pathway.
T1 0-102 Sentence denotes Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
T2 103-259 Sentence denotes Herpes simplex encephalitis (HSE) in children has previously been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3.
T3 260-391 Sentence denotes In the present study, we used whole-exome sequencing to investigate the genetic profile of 16 adult patients with a history of HSE.
T4 392-565 Sentence denotes We identified novel mutations in IRF3, TYK2 and MAVS, molecules involved in generating innate antiviral immune responses, which have not previously been associated with HSE.
T5 566-713 Sentence denotes Moreover, data revealed mutations in TLR3, TRIF, TBK1 and STAT1 known to be associated with HSE in children but not previously described in adults.
T6 714-986 Sentence denotes All discovered mutations were heterozygous missense mutations, the majority of which were associated with significantly decreased antiviral responses to HSV-1 infection and/or the TLR3 agonist poly(I:C) in patient peripheral blood mononuclear cells compared with controls.
T7 987-1217 Sentence denotes Altogether, this study demonstrates novel mutations in the TLR3 signaling pathway in molecules previously identified in children, suggesting that impaired innate immunity to HSV-1 may also increase susceptibility to HSE in adults.
T8 1218-1429 Sentence denotes Importantly, the identification of mutations in innate signaling molecules not directly involved in TLR3 signaling suggests the existence of innate immunodeficiencies predisposing to HSE beyond the TLR3 pathway.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 939-944 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 939-944 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood