Article
A common genetic variant within SCN10A modulates cardiac SCN5A expression.
The Journal of clinical investigation - 1 Apr 2014
van den Boogaard Malou, Smemo Scott, Burnicka-Turek Ozanna, Arnolds David E, van de Werken Harmen J G, Klous Petra, McKean David, Muehlschlegel Jochen D, Moosmann Julia, Toka Okan, Yang Xinan H, Koopmann Tamara T, Adriaens Michiel E, Bezzina Connie R, de Laat Wouter, Seidman Christine, Seidman J G, Christoffels Vincent M, Nobrega Marcelo A, Barnett Phil, Moskowitz Ivan P
Abstract excerpt
Variants in SCN10A, which encodes a voltage-gated sodium channel, are associated with alterations of cardiac conduction parameters and the cardiac rhythm disorder Brugada syndrome; however, it is unclear how SCN10A variants promote dysfunctional cardiac conduction. Here we showed by high-resolution 4C-seq analysis of the Scn10a-Scn5a locus in murine heart tissue that a cardiac enhancer located in Scn10a,...
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