FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2047665612> ?p ?o ?g. }

• W2047665612 endingPage "255" @default.
• W2047665612 startingPage "249" @default.
• W2047665612 abstract "Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). Our recent genome-wide search revealed suggestive evidence for a susceptibility locus for common IGE syndromes in the chromosomal region 2q36. The gene encoding the anion exchanger isoform 3 (AE3; gene symbol: SLC4A3) has been mapped to this candidate region. AE3 is prominently expressed in the brain and performs an electroneutral exchange of chloride and bicarbonate. To study the potential role of AE3 in the epileptogenesis of IGE, we performed a mutation analysis of the AE3 coding region, including the adjacent exon/intron boundaries, and the 5'-untranslated region in 16 IGE probands of families linked to chromosome 2q36 (cumulative two-point lod score: Z=5.32 at D2S371). Three exonic sequence variants were found: exon 17: 2600C/A, Ala867Asp; exon 21: 3391C/T, Leu1131Leu; exon 23: 3771G/A, 3'-UTR. Our subsequent population-based association study of the Ala867Asp substitution polymorphism revealed a significant increase of the 867Asp variant in 366 unrelated German IGE patients compared with 183 German control subjects (chi(2)=5.37, df=1, P=0.021). Consistently, the transmission disequilibrium test (TDT) of 121 parent-child trios showed a significant preferential transmission of the 867Asp allele (McNemar chi(2)=5.81, df=1, P=0.016). Our results support the hypothesis that variation of the AE3 gene confers a common but small susceptibility effect to the etiology of a broad spectrum of IGE syndromes." @default.
• W2047665612 created "2016-06-24" @default.
• W2047665612 creator A5011160720 @default.
• W2047665612 creator A5023743496 @default.
• W2047665612 creator A5027485729 @default.
• W2047665612 creator A5049809917 @default.
• W2047665612 creator A5050536849 @default.
• W2047665612 creator A5058490695 @default.
• W2047665612 creator A5076373159 @default.
• W2047665612 creator A5078248666 @default.
• W2047665612 creator A5090957458 @default.
• W2047665612 date "2002-10-01" @default.
• W2047665612 modified "2023-10-18" @default.
• W2047665612 title "Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy" @default.
• W2047665612 cites W1964830464 @default.
• W2047665612 cites W1975034532 @default.
• W2047665612 cites W1977966461 @default.
• W2047665612 cites W1983156982 @default.
• W2047665612 cites W1993785870 @default.
• W2047665612 cites W1995804648 @default.
• W2047665612 cites W1999459482 @default.
• W2047665612 cites W2021858421 @default.
• W2047665612 cites W2029473363 @default.
• W2047665612 cites W2030348245 @default.
• W2047665612 cites W2038129792 @default.
• W2047665612 cites W2046455409 @default.
• W2047665612 cites W2071315089 @default.
• W2047665612 cites W2086679367 @default.
• W2047665612 cites W2110343195 @default.
• W2047665612 cites W2112171407 @default.
• W2047665612 cites W2115179346 @default.
• W2047665612 cites W2118094114 @default.
• W2047665612 cites W2123466824 @default.
• W2047665612 cites W2124416664 @default.
• W2047665612 cites W2158919450 @default.
• W2047665612 cites W2166610405 @default.
• W2047665612 cites W4239594659 @default.
• W2047665612 cites W4255097930 @default.
• W2047665612 doi "https://doi.org/10.1016/s0920-1211(02)00152-3" @default.
• W2047665612 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12399075" @default.
• W2047665612 hasPublicationYear "2002" @default.
• W2047665612 type Work @default.
• W2047665612 sameAs 2047665612 @default.
• W2047665612 citedByCount "66" @default.
• W2047665612 countsByYear W20476656122012 @default.
• W2047665612 countsByYear W20476656122013 @default.
• W2047665612 countsByYear W20476656122014 @default.
• W2047665612 countsByYear W20476656122015 @default.
• W2047665612 countsByYear W20476656122016 @default.
• W2047665612 countsByYear W20476656122017 @default.
• W2047665612 countsByYear W20476656122018 @default.
• W2047665612 countsByYear W20476656122019 @default.
• W2047665612 countsByYear W20476656122020 @default.
• W2047665612 countsByYear W20476656122021 @default.
• W2047665612 countsByYear W20476656122022 @default.
• W2047665612 countsByYear W20476656122023 @default.
• W2047665612 crossrefType "journal-article" @default.
• W2047665612 hasAuthorship W2047665612A5011160720 @default.
• W2047665612 hasAuthorship W2047665612A5023743496 @default.
• W2047665612 hasAuthorship W2047665612A5027485729 @default.
• W2047665612 hasAuthorship W2047665612A5049809917 @default.
• W2047665612 hasAuthorship W2047665612A5050536849 @default.
• W2047665612 hasAuthorship W2047665612A5058490695 @default.
• W2047665612 hasAuthorship W2047665612A5076373159 @default.
• W2047665612 hasAuthorship W2047665612A5078248666 @default.
• W2047665612 hasAuthorship W2047665612A5090957458 @default.
• W2047665612 hasConcept C104317684 @default.
• W2047665612 hasConcept C135763542 @default.
• W2047665612 hasConcept C153209595 @default.
• W2047665612 hasConcept C169760540 @default.
• W2047665612 hasConcept C180754005 @default.
• W2047665612 hasConcept C186413461 @default.
• W2047665612 hasConcept C197754878 @default.
• W2047665612 hasConcept C2776885448 @default.
• W2047665612 hasConcept C2777295592 @default.
• W2047665612 hasConcept C2778186239 @default.
• W2047665612 hasConcept C2908647359 @default.
• W2047665612 hasConcept C35605836 @default.
• W2047665612 hasConcept C36823959 @default.
• W2047665612 hasConcept C54355233 @default.
• W2047665612 hasConcept C71924100 @default.
• W2047665612 hasConcept C86803240 @default.
• W2047665612 hasConcept C99454951 @default.
• W2047665612 hasConceptScore W2047665612C104317684 @default.
• W2047665612 hasConceptScore W2047665612C135763542 @default.
• W2047665612 hasConceptScore W2047665612C153209595 @default.
• W2047665612 hasConceptScore W2047665612C169760540 @default.
• W2047665612 hasConceptScore W2047665612C180754005 @default.
• W2047665612 hasConceptScore W2047665612C186413461 @default.
• W2047665612 hasConceptScore W2047665612C197754878 @default.
• W2047665612 hasConceptScore W2047665612C2776885448 @default.
• W2047665612 hasConceptScore W2047665612C2777295592 @default.
• W2047665612 hasConceptScore W2047665612C2778186239 @default.
• W2047665612 hasConceptScore W2047665612C2908647359 @default.
• W2047665612 hasConceptScore W2047665612C35605836 @default.
• W2047665612 hasConceptScore W2047665612C36823959 @default.
• W2047665612 hasConceptScore W2047665612C54355233 @default.
• W2047665612 hasConceptScore W2047665612C71924100 @default.

• next