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
The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.
Greiner AM et al.
Frontiers in Medicine, 2023
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Yuan M et al.
Frontiers in Cardiovascular Medicine, 2021
A novel mutation in GPD1‑L associated with early repolarization syndrome via modulation of cardiomyocyte fast sodium currents.
Fan J et al.
International Journal of Molecular Medicine, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.
Huang H et al.
Journal of Cellular and Molecular Medicine, 2018
Cardiac channelopathies: The role of sodium channel mutations.
Fonseca DJ et al.
Revista Portuguesa De Cardiologia, 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
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis.
Willis BC et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2015
Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias.
Herren AW et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2013
Regulation of ion channels by pyridine nucleotides.
Kilfoil PJ et al.
Circulation Research, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Cardiac channelopathies and sudden infant death syndrome.
Tfelt-Hansen J et al.
Cardiology, 2011
Cardiac metabolic state and Brugada syndrome: a link revealed.
Chahine M
Circulation Research, 2009
GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
Valdivia CR et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2009
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
Van Norstrand DW et al.
Circulation, 2007
[Structure, function and regulation of voltage-gated sodium channel].
Okamura Y
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1997