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
Caveolin-3 and Caveolae regulate ventricular repolarization.
Markandeya YS et al.
Journal of Molecular and Cellular Cardiology, 2023
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 2023
Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.
Blandin CE et al.
Cells, 2021
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.
Ye D et al.
International Journal of Cardiology, 2020
Long QT syndrome caveolin-3 mutations differentially modulate Kv 4 and Cav 1.2 channels to contribute to action potential prolongation.
Tyan L et al.
The Journal of Physiology, 2019
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
The Cardiac Sodium Channel and Its Protein Partners.
Balse E et al.
Handbook of Experimental Pharmacology, 2018
Caveolin-3 Microdomain: Arrhythmia Implications for Potassium Inward Rectifier and Cardiac Sodium Channel.
Vaidyanathan R et al.
Frontiers in Physiology, 2018
Long-QT syndrome-associated caveolin-3 mutations differentially regulate the hyperpolarization-activated cyclic nucleotide gated channel 4.
Motloch LJ et al.
Physiology International, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
To be or not to be: long-QT syndrome type 9.
Cutler MJ et al.
Circulation. Cardiovascular Genetics, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
The interaction of caveolin 3 protein with the potassium inward rectifier channel Kir2.1: physiology and pathology related to long qt syndrome 9 (LQT9).
Vaidyanathan R et al.
The Journal of Biological Chemistry, 2013
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2009
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
Cronk LB et al.
Heart Rhythm, 2007
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M et al.
Circulation, 2006
Biophysical defects in voltage.gated sodium channels associated with long QT and Brugada syndromes.
Jones DK et al.
Channels (austin, Tex.), 0