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
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the American College of Cardiology"
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
The diagnostic efficacy of the ajmaline challenge in SCN5A positive Brugada syndrome patients
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DOI: 10.1093/europace/euaf085.715
Abstract: Abstract Background The ajmaline challenge is a key diagnostic tool for unmasking Brugada syndrome (BrS) in patients with suspected arrhythmogenic substrates. The relationship between genotype and phenotypical penetrance is not completely understood. Objective To investigate… read more here.
Keywords: scn5a positive; ajmaline challenge; brugada syndrome; scn5a ... 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
Abstract Mo054: Long Noncoding RNA LINC00667 Downregulation Leads to SCN5A Alternative Splicing and Arrhythmogenesis
Sign Up to like & getrecommendations! Published in 2024 at "Circulation Research"
DOI: 10.1161/res.135.suppl_1.mo054
Abstract: Background: The voltage-gated sodium channel SCN5A, which encodes the Nav1.5 protein, is integral to the propagation of electrical signals in cardiac tissue. SCN5A expression is diminished in cardiomyopathy, significantly increasing the susceptibility to arrhythmias. This… read more here.
Keywords: alternative splicing; mrna; linc00667; scn5a mrna ... 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