Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.
Vašků A et al.
Genes, 2024
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
Lopes-Marques M et al.
Peerj, 2022
Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene.
Chen J et al.
Stem Cell Research, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
Matsumura H et al.
Journal of Biomedical Science, 2017
Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy.
Priganc M et al.
Journal of Clinical Laboratory Analysis, 2017
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
Veltmann C et al.
Journal of the American Heart Association, 2016
CaMKII-dependent regulation of cardiac Na(+) homeostasis.
Grandi E et al.
Frontiers in Pharmacology, 2014
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
Shinlapawittayatorn K et al.
Heart Rhythm, 2011
Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy.
Sen-Chowdhry S et al.
Circulation. Cardiovascular Genetics, 2010
Genetics of Brugada syndrome.
Campuzano O et al.
Current Opinion in Cardiology, 2010
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.
Tu E et al.
Human Pathology, 2010
In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.
Mort M et al.
Human Mutation, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians.
Doolan A et al.
International Journal of Cardiology, 2008
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?
Scicluna BP et al.
Journal of Cardiovascular Electrophysiology, 2008
Genotype-phenotype correlation in a family with primary cortisol resistance: possible modulating effect of the ER22/23EK polymorphism.
Raef H et al.
European Journal of Endocrinology, 2008
Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort.
Fang DH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
Remme CA et al.
Trends in Cardiovascular Medicine, 2008
Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
Casini S et al.
Cardiovascular Research, 2007
Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
Hu D et al.
Heart Rhythm, 2007
A novel mutation in the SCN5A gene is associated with Brugada syndrome.
Shin DJ et al.
Life Sciences, 2007
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
Poelzing S et al.
Circulation, 2006
Molecular basis of isolated cardiac conduction disease.
Viswanathan PC et al.
Handbook of Experimental Pharmacology, 2006
Mutation screening for the genes causing cardiac arrhythmias.
Towbin JA
Methods in Molecular Medicine, 2006
Drug-induced torsades de pointes: the evolving role of pharmacogenetics.
Fitzgerald PT et al.
Heart Rhythm, 2005
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Crotti L et al.
Circulation, 2005
Susceptibility genes and modifiers for cardiac arrhythmias.
Kääb S et al.
Cardiovascular Research, 2005
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
From mutation to clinical presentation: mechanisms in the black box.
Zhu ZI et al.
Journal of Molecular and Cellular Cardiology, 2005
Mechanisms of inherited cardiac conduction disease.
Smits JP et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2005
Molecular genetic basis of sudden cardiac death.
Towbin JA
Pediatric Clinics of North America, 2004
Genetics of atrioventricular conduction disease in humans.
Benson DW
The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology, 2004
Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.
Niimura H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2004
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.
Wang Q et al.
Journal of Medical Genetics, 2004
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.
Makielski JC et al.
Circulation Research, 2003
Gene polymorphisms and cardiac arrhythmias.
Firouzi M et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2003