Hideyuki Jinzai
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View article: Characterization of a Splice-Altering Variant in <i>SCN5A</i> Associated With Brugada Syndrome ― Insights Into Splice Error Correction ―
Characterization of a Splice-Altering Variant in <i>SCN5A</i> Associated With Brugada Syndrome ― Insights Into Splice Error Correction ― Open
We confirmed a splice site alteration by SCN5A c.1338G>A and propose extended use of SpliceAI for screening a target genomic region. The attempts to correct mis-splicing near the canonical splice site were not entirely successful, so furth…
View article: The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity
The dominant-negative effect of Loss of function Nav 1.5 variants is not a critical determinant of phenotype severity Open
Introduction Loss-of-function (LOF) variants of SCN5A cause various arrhythmic diseases. Recent studies have demonstrated that some LOF-SCN5A variants can exert a dominant-negative (DN) effect through channel dimerization, resulting in hig…