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
Estimating the probability of early afterdepolarizations and predicting arrhythmic risk associated with long QT syndrome type 1 mutations.
Jin Q et al.
Biophysical Journal, 2023
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Braun C et al.
Communications Biology, 2021
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.
Kasak L et al.
Journal of the American Heart Association, 2021
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
Ruwald MH et al.
Heart Rhythm, 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
In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models.
Hoefen R et al.
Journal of the American College of Cardiology, 2012
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Amin AS et al.
European Heart Journal, 2012
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Jons C et al.
Science Translational Medicine, 2011
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.
Hofman N et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Jons C et al.
Journal of Cardiovascular Electrophysiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel.
Pan N et al.
Cellular Signalling, 2009
The human ERG1 channel polymorphism, K897T, creates a phosphorylation site that inhibits channel activity.
Gentile S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.
Tan HL et al.
Circulation, 2005
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
Van Langen IM et al.
Journal of Medical Genetics, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).
Wilde AA et al.
Journal of the American College of Cardiology, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999