Functional evaluation of the tachycardia patient‐derived iPSC cardiomyocytes carrying a novel pathogenic SCN5A variant
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30843
Abstract: Tachycardia is characterized by high beating rates that can lead to life‐threatening fibrillations. Mutations in several ion‐channel genes were implicated with tachycardia; however, the complex genetic contributors and their modes of action are still unclear.… read more here.
Keywords: scn5a; ipsc cms; tachycardia; derived ipsc ... See more keywords
SCN5A Overlap Syndromes: an open-minded approach.
Sign Up to like & getrecommendations! Published in 2022 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2022.03.1223
Abstract: SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. We here review the literature… read more here.
Keywords: overlap syndromes; scn5a overlap; open minded; syndromes open ... See more keywords
Gap-134, a Connexin43 activator, prevents age-related development of ventricular fibrosis in Scn5a+/- mice.
Sign Up to like & getrecommendations! Published in 2020 at "Pharmacological research"
DOI: 10.1016/j.phrs.2020.104922
Abstract: Down-regulation of Connexin43 (Cx43) has often been associated with the development of cardiac fibrosis. We showed previously that Scn5a heterozygous knockout mice (Scn5a+/-), which mimic familial progressive cardiac conduction defect, exhibit an age-dependent decrease of… read more here.
Keywords: gap 134; fibrosis; age; scn5a ... See more keywords
COMPOUND SCN5A MUTATION AND FGF12 VARIATION CAUSE BRUGADA SYNDROME
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DOI: 10.1016/s0735-1097(17)33721-x
Abstract: Background: Mutations in the voltage-gated sodium channel (SCN5A; Nav1.5) and its regulating genes, such as fibroblast growth factor 12 (FGF12), are linked to Brugada syndrome (BrS). The goal of this study is to identify additional… read more here.
Keywords: compound scn5a; mutation fgf12; fgf12 variation; brugada syndrome ... See more keywords
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia
Sign Up to like & getrecommendations! Published in 2022 at "Cardiovascular Research"
DOI: 10.1093/cvr/cvac059
Abstract: Abstract Aims Human-induced pluripotent stem cell-cardiomyocytes (hiPSC-CMs) are widely used to study arrhythmia-associated mutations in ion channels. Among these, the cardiac sodium channel SCN5A undergoes foetal-to-adult isoform switching around birth. Conventional hiPSC-CM cultures, which are… read more here.
Keywords: scn5a; maturation; hipsc cms; adult ... See more keywords
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17254
Abstract: Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in epilepsy. The underlying pathological mechanisms are likely to be multifactorial. Cardiac arrhythmia has been suggested as a cause of death in… read more here.
Keywords: scn5a; cause; channel function; death ... See more keywords
Letter by Jin-shan and Xue-bin Regarding Article, "Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry".
Sign Up to like & getrecommendations! Published in 2017 at "Circulation"
DOI: 10.1161/circulationaha.117.030553
Abstract: We read with great interest the article by Yamagata et al1 about the genotype-phenotype correlation of SCN5A mutations for the clinical and electrocardiographic characteristics of probands with Brugada syndrome, which indicates that patients with Brugada… read more here.
Keywords: clinical electrocardiographic; genotype phenotype; phenotype correlation; correlation scn5a ... See more keywords
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
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DOI: 10.1186/s12929-017-0397-x
Abstract: BackgroundA 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… read more here.
Keywords: scn5a polymorphism; methylation; expression; scn5a ... See more keywords
Zfhx3 Transcription Factor Represses the Expression of SCN5A Gene and Decreases Sodium Current Density (INa)
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DOI: 10.3390/ijms222313031
Abstract: The ZFHX3 and SCN5A genes encode the zinc finger homeobox 3 (Zfhx3) transcription factor (TF) and the human cardiac Na+ channel (Nav1.5), respectively. The effects of Zfhx3 on the expression of the Nav1.5 channel, and… read more here.
Keywords: expression; density; zfhx3; zfhx3 transcription ... See more keywords
SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232214447
Abstract: Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of life-threatening arrhythmias and sudden cardiac death (SCD), mostly in young adult women. Herein,… read more here.
Keywords: scn5a; valve prolapse; mvp; mitral valve ... See more keywords