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
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
Nutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.
Mazzanti A et al.
Advances in Nutrition (bethesda, Md.), 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.
Mondéjar-Parreño G et al.
Cell Discovery, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.
Tarantino A et al.
European Heart Journal, 2024
Decoding polyubiquitin regulation of KV7. 1 functional expression with engineered linkage-selective deubiquitinases.
Shanmugam SK et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants.
Kashiwa A et al.
Heart Rhythm, 2024
The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block.
Wada Y et al.
Cardiovascular Research, 2024
The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants.
Cui S et al.
Journal of Molecular and Cellular Cardiology, 2023
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Copier JS et al.
Human Molecular Genetics, 2023
Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events.
Lu H et al.
Frontiers in Cardiovascular Medicine, 2022
Pueraria mirifica, an estrogenic tropical herb, unveiled the severity of Type 1 LQTS caused by KCNQ1-T587M.
Kashiwa A et al.
Journal of Arrhythmia, 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
Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.
Wu X et al.
International Journal of Molecular Sciences, 2020
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.
Clatot J et al.
International Journal of Molecular Sciences, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity.
Harkcom WT et al.
Journal of Cellular Physiology, 2019
A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport.
Wu J et al.
Journal of Cardiology, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.
Szperl M et al.
Journal of Applied Genetics, 2018
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.
Gibbs C et al.
Journal of the American Heart Association, 2018
A challenge for mutation specific risk stratification in long QT syndrome type 1.
Yagi N et al.
Journal of Cardiology, 2018
A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.
Wu J et al.
Scientific Reports, 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
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?
Früh A et al.
Heart Rhythm, 2016
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Seethala S et al.
Journal of the American Heart Association, 2015
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
Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Ma D et al.
Stem Cell Research & Therapy, 2015
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
Kinoshita K et al.
Journal of Molecular and Cellular Cardiology, 2014