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PubMed:23441136 JSONTXT 7 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-149 Sentence denotes Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
T1 0-149 Sentence denotes Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.
T2 150-255 Sentence denotes Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component.
T2 150-255 Sentence denotes Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component.
T3 256-363 Sentence denotes African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown.
T3 256-363 Sentence denotes African-Americans (AA) are at increased risk of SLE, but the genetic basis of this risk is largely unknown.
T4 364-501 Sentence denotes To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA).
T4 364-501 Sentence denotes To identify causal variants in SLE loci in AA, we performed admixture mapping followed by fine mapping in AA and European-Americans (EA).
T5 502-711 Sentence denotes Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5).
T5 502-711 Sentence denotes Through genome-wide admixture mapping in AA, we identified a strong SLE susceptibility locus at 2q22-24 (LOD=6.28), and the admixture signal is associated with the European ancestry (ancestry risk ratio ~1.5).
T6 712-1139 Sentence denotes Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence interval = 0.82 (0.78-0.87)], and two missense variants, rs1990760 (Ala946Thr) [P(meta) = 3.08×10(-7); 0.88 (0.84-0.93)] and rs10930046 (Arg460His) [P(dom) = 1.16×10(-8); 0.70 (0.62-0.79)].
T6 712-1139 Sentence denotes Large-scale genotypic analysis on 19,726 individuals of African and European ancestry revealed three independently associated variants in the IFIH1 gene: an intronic variant, rs13023380 [P(meta) = 5.20×10(-14); odds ratio, 95% confidence interval = 0.82 (0.78-0.87)], and two missense variants, rs1990760 (Ala946Thr) [P(meta) = 3.08×10(-7); 0.88 (0.84-0.93)] and rs10930046 (Arg460His) [P(dom) = 1.16×10(-8); 0.70 (0.62-0.79)].
T7 1140-1254 Sentence denotes Both missense variants produced dramatic phenotypic changes in apoptosis and inflammation-related gene expression.
T7 1140-1254 Sentence denotes Both missense variants produced dramatic phenotypic changes in apoptosis and inflammation-related gene expression.
T8 1255-1396 Sentence denotes We experimentally validated function of the intronic SNP by DNA electrophoresis, protein identification, and in vitro protein binding assays.
T8 1255-1396 Sentence denotes We experimentally validated function of the intronic SNP by DNA electrophoresis, protein identification, and in vitro protein binding assays.
T9 1397-1613 Sentence denotes DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.
T9 1397-1613 Sentence denotes DNA carrying the intronic risk allele rs13023380 showed reduced binding efficiency to a cellular protein complex including nucleolin and lupus autoantigen Ku70/80, and showed reduced transcriptional activity in vivo.
T10 1614-1777 Sentence denotes Thus, in SLE patients, genetic susceptibility could create a biochemical imbalance that dysregulates nucleolin, Ku70/80, or other nucleic acid regulatory proteins.
T10 1614-1777 Sentence denotes Thus, in SLE patients, genetic susceptibility could create a biochemical imbalance that dysregulates nucleolin, Ku70/80, or other nucleic acid regulatory proteins.
T11 1778-1893 Sentence denotes This could promote antibody hypermutation and auto-antibody generation, further destabilizing the cellular network.
T11 1778-1893 Sentence denotes This could promote antibody hypermutation and auto-antibody generation, further destabilizing the cellular network.
T12 1894-2114 Sentence denotes Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.
T12 1894-2114 Sentence denotes Together with molecular modeling, our results establish a distinct role for IFIH1 in apoptosis, inflammation, and autoantibody production, and explain the molecular basis of these three risk alleles for SLE pathogenesis.