Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Singer ES et al.
Npj Genomic Medicine, 2023
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
Cócera-Ortega L et al.
International Journal of Molecular Sciences, 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
Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.
Hou P et al.
Nature Communications, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.
Amirian A et al.
Journal of Arrhythmia, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.
Leong IUS et al.
Journal of Clinical Medicine Research, 2017
Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.
Cui J
Biophysical Journal, 2016
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Congenital long QT syndrome caused by the F275S KCNQ1 mutation: mechanism of impaired channel function.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel.
Pan N et al.
Cellular Signalling, 2009
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
Seebohm G et al.
Circulation Research, 2008
The role of abnormal trafficking of KCNE1 in long QT syndrome 5.
Harmer SC et al.
Biochemical Society Transactions, 2007
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
Pharmacological activation of normal and arrhythmia-associated mutant KCNQ1 potassium channels.
Seebohm G et al.
Circulation Research, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
Franqueza L et al.
The Journal of Biological Chemistry, 1999
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997