FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155133694> ?p ?o ?g. }

• W2155133694 abstract "Lone atrial flutter (AFL) and atrial fibrillation (AF) are common and sometimes consequential cardiac conduction disorders with a strong heritability, as underlined by recent genome-wide association studies that identified genetic modifiers. Follow-up family-based genetic analysis also identified Mendelian transmission of disease alleles. Three affected members were exome-sequenced for the identification of potential causative mutations, which were subsequently validated by direct sequencing in the other 3 affected members. Taqman assay was then used to confirm the role of any mutation in an independent population of sporadic lone AFL/AF cases.The family cluster analysis provided evidence of genetic inheritance of AFL in the family via autosomal dominant transmission. The exome-sequencing of 3 family members identified 7 potential mutations: of these, rs58238559, a rare missense genetic variant in the ATP-binding cassette sub-family B, member 4 (ABCB4) gene was carried by all affected members. Further analysis of 82 subjects with sporadic lone AF, 63 subjects with sporadic lone AFL, and 673 controls revealed that the allele frequency for this variation was significantly higher in cases than in the controls (0.05 vs. 0.01; OR = 3.73; 95% CI = 1.16-11.49; P = 0.013).rs58238559 in ABCB4 is a rare missense variant with a significant effect on the development of AFL/AF." @default.
• W2155133694 created "2016-06-24" @default.
• W2155133694 creator A5000314948 @default.
• W2155133694 creator A5005888186 @default.
• W2155133694 creator A5006155101 @default.
• W2155133694 creator A5010700645 @default.
• W2155133694 creator A5033232751 @default.
• W2155133694 creator A5038393567 @default.
• W2155133694 creator A5044140071 @default.
• W2155133694 creator A5049857774 @default.
• W2155133694 creator A5066345002 @default.
• W2155133694 creator A5067218801 @default.
• W2155133694 creator A5069339776 @default.
• W2155133694 creator A5085584750 @default.
• W2155133694 creator A5088842161 @default.
• W2155133694 creator A5088949692 @default.
• W2155133694 date "2015-02-11" @default.
• W2155133694 modified "2023-10-07" @default.
• W2155133694 title "Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases" @default.
• W2155133694 cites W153582504 @default.
• W2155133694 cites W1983977742 @default.
• W2155133694 cites W1984068087 @default.
• W2155133694 cites W2008077084 @default.
• W2155133694 cites W2010616874 @default.
• W2155133694 cites W2035362968 @default.
• W2155133694 cites W2037988353 @default.
• W2155133694 cites W2052223883 @default.
• W2155133694 cites W2053899087 @default.
• W2155133694 cites W2056578624 @default.
• W2155133694 cites W2063172243 @default.
• W2155133694 cites W2065958606 @default.
• W2155133694 cites W2100414478 @default.
• W2155133694 cites W2103441770 @default.
• W2155133694 cites W2108234281 @default.
• W2155133694 cites W2108293406 @default.
• W2155133694 cites W2109825385 @default.
• W2155133694 cites W2119468178 @default.
• W2155133694 cites W2149665587 @default.
• W2155133694 cites W2151074096 @default.
• W2155133694 cites W2152124063 @default.
• W2155133694 cites W2153191832 @default.
• W2155133694 cites W2157218076 @default.
• W2155133694 cites W2161633633 @default.
• W2155133694 cites W2168133698 @default.
• W2155133694 cites W2168633437 @default.
• W2155133694 cites W2172033623 @default.
• W2155133694 cites W2172134989 @default.
• W2155133694 cites W2172250026 @default.
• W2155133694 cites W2598961903 @default.
• W2155133694 cites W28738101 @default.
• W2155133694 cites W64946981 @default.
• W2155133694 cites W89822614 @default.
• W2155133694 doi "https://doi.org/10.1186/s12863-015-0177-0" @default.
• W2155133694 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4342200" @default.
• W2155133694 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25888430" @default.
• W2155133694 hasPublicationYear "2015" @default.
• W2155133694 type Work @default.
• W2155133694 sameAs 2155133694 @default.
• W2155133694 citedByCount "3" @default.
• W2155133694 countsByYear W21551336942015 @default.
• W2155133694 countsByYear W21551336942017 @default.
• W2155133694 countsByYear W21551336942021 @default.
• W2155133694 crossrefType "journal-article" @default.
• W2155133694 hasAuthorship W2155133694A5000314948 @default.
• W2155133694 hasAuthorship W2155133694A5005888186 @default.
• W2155133694 hasAuthorship W2155133694A5006155101 @default.
• W2155133694 hasAuthorship W2155133694A5010700645 @default.
• W2155133694 hasAuthorship W2155133694A5033232751 @default.
• W2155133694 hasAuthorship W2155133694A5038393567 @default.
• W2155133694 hasAuthorship W2155133694A5044140071 @default.
• W2155133694 hasAuthorship W2155133694A5049857774 @default.
• W2155133694 hasAuthorship W2155133694A5066345002 @default.
• W2155133694 hasAuthorship W2155133694A5067218801 @default.
• W2155133694 hasAuthorship W2155133694A5069339776 @default.
• W2155133694 hasAuthorship W2155133694A5085584750 @default.
• W2155133694 hasAuthorship W2155133694A5088842161 @default.
• W2155133694 hasAuthorship W2155133694A5088949692 @default.
• W2155133694 hasBestOaLocation W21551336941 @default.
• W2155133694 hasConcept C104317684 @default.
• W2155133694 hasConcept C10590036 @default.
• W2155133694 hasConcept C16671776 @default.
• W2155133694 hasConcept C180754005 @default.
• W2155133694 hasConcept C501734568 @default.
• W2155133694 hasConcept C54355233 @default.
• W2155133694 hasConcept C75563809 @default.
• W2155133694 hasConcept C86803240 @default.
• W2155133694 hasConceptScore W2155133694C104317684 @default.
• W2155133694 hasConceptScore W2155133694C10590036 @default.
• W2155133694 hasConceptScore W2155133694C16671776 @default.
• W2155133694 hasConceptScore W2155133694C180754005 @default.
• W2155133694 hasConceptScore W2155133694C501734568 @default.
• W2155133694 hasConceptScore W2155133694C54355233 @default.
• W2155133694 hasConceptScore W2155133694C75563809 @default.
• W2155133694 hasConceptScore W2155133694C86803240 @default.
• W2155133694 hasIssue "1" @default.
• W2155133694 hasLocation W21551336941 @default.
• W2155133694 hasLocation W21551336942 @default.
• W2155133694 hasLocation W21551336943 @default.
• W2155133694 hasLocation W21551336944 @default.
• W2155133694 hasOpenAccess W2155133694 @default.

• next