H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters

BACKGROUND: A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. METHODS AND RESULT...

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Enregistré dans:
Détails bibliographiques
Publié dans:J Biomed Sci
Auteurs principaux: Matsumura, Hiroya, Nakano, Yukiko, Ochi, Hidenori, Onohara, Yuko, Sairaku, Akinori, Tokuyama, Takehito, Tomomori, Shunsuke, Motoda, Chikaaki, Amioka, Michitaka, Hironobe, Naoya, Toshishige, Masaaki, Takahashi, Shinya, Imai, Katsuhiko, Sueda, Taijiro, Chayama, Kazuaki, Kihara, Yasuki
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2017
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5713129/
https://ncbi.nlm.nih.gov/pubmed/29202755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12929-017-0397-x
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