Associated Papers
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
O'Neill MJ et al.
Nature Communications, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Novel insights in the pathomechanism of Brugada syndrome and fever-related type 1 ECG changes in a preclinical study using human-induced pluripotent stem cell-derived cardiomyocytes.
Li Y et al.
Clinical and Translational Medicine, 2023
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
Daimi H et al.
International Journal of Molecular Sciences, 2022
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
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification.
Monasky MM et al.
Frontiers in Cardiovascular Medicine, 2021
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
Regulation of Cardiac Voltage-Gated Sodium Channel by Kinases: Roles of Protein Kinases A and C.
Aromolaran AS et al.
Handbook of Experimental Pharmacology, 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
The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.
Detta N et al.
Biochimica Et Biophysica Acta, 2015
Regulation of the cardiac Na+ channel NaV1.5 by post-translational modifications.
Marionneau C et al.
Journal of Molecular and Cellular Cardiology, 2015
A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents.
Aiba T et al.
Circulation. Cardiovascular Genetics, 2014
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
Sommariva E et al.
European Journal of Human Genetics : Ejhg, 2013
The cardiac sodium channel is post-translationally modified by arginine methylation.
Beltran-Alvarez P et al.
Journal of Proteome Research, 2011
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger RE et al.
Clinical and Translational Science, 2008
[Structure, function and regulation of voltage-gated sodium channel].
Okamura Y
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1997