Article
CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias.
Journal of the American Heart Association - 2 Oct 2018
Pang Paul D, Alsina Katherina M, Cao Shuyi, Koushik Amrita B, Wehrens Xander H T, Cooper Thomas A
Abstract excerpt
Background The sodium channel, Nav1.5, encoded by SCN 5A, undergoes developmentally regulated splicing from inclusion of exon 6A in the fetal heart to exon 6B in adults. These mutually exclusive exons differ in 7 amino acids altering the electrophysiological properties of the Nav1.5 channel. In myotonic dystrophy type 1, SCN 5A is mis-spliced such that the fetal pattern of exon 6A inclusion is detected in adult...
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