Associated Papers
Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Al Azri K et al.
Journal of the Saudi Heart Association, 2025
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
38485923 (PubMed )
Supplement: 41467_2024_45958_MOESM1_ESM.pdf
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx
Proteomic and functional mapping of cardiac NaV1.5 channel phosphorylation sites.
Lorenzini M et al.
The Journal of General Physiology, 2021
33410863 (PubMed )
Supplement: JGP_202012646_TableS2.pdf
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Gender difference in clinical and genetic characteristics of Brugada syndrome: SADS-TW BrS registry.
Chen CJ et al.
Qjm : Monthly Journal of the Association of Physicians, 2019
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Clatot J et al.
Cardiovascular Research, 2012
Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.
Wang T et al.
Heart Rhythm, 2012
In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.
Lin MT et al.
Heart Rhythm, 2008
Look beyond the hERG mutation: a neutral SCN5A variant may turn lidocaine into a threat.
Lindegger N et al.
Heart Rhythm, 2008
Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene.
Barr M et al.
Clinical Endocrinology, 2006
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