Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Rescue of loss-of-function long QT syndrome-associated mutations in KV7.1/KCNE1 by the endocannabinoid N-arachidonoyl-L-serine (ARA-S).
Hiniesto-Iñigo I et al.
British Journal of Pharmacology, 2025
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
Hayashi K et al.
Jacc. Clinical Electrophysiology, 2016
A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.
Chen J et al.
Pacing and Clinical Electrophysiology : Pace, 2011
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
Structural models for the KCNQ1 voltage-gated potassium channel.
Smith JA et al.
Biochemistry, 2007
Mechanisms of I(Ks) suppression in LQT1 mutants.
Bianchi L et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Low penetrance in the long-QT syndrome: clinical impact.
Priori SG et al.
Circulation, 1999
Disease-linked supertrafficking of a potassium channel.
Huang H et al.
The Journal of Biological Chemistry, 0