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
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
KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.
Song Y et al.
Stem Cell Research & Therapy, 2022
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Delayed KCNQ1/KCNE1 assembly on the cell surface helps IKs fulfil its function as a repolarization reserve in the heart.
Wilson ZT et al.
The Journal of Physiology, 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
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
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
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 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
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
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
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
The Role of the Carboxyl Terminus Helix C-D Linker in Regulating KCNQ3 K+ Current Amplitudes by Controlling Channel Trafficking.
Choveau FS et al.
Plos One, 2015
Trafficking of the IKs -complex in MDCK cells: site of subunit assembly and determinants of polarized localization.
David JP et al.
Traffic (copenhagen, Denmark), 2013
Regions of KCNQ K(+) channels controlling functional expression.
Choveau FS et al.
Frontiers in Physiology, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
KV7 channelopathies.
Maljevic S et al.
Pflugers Archiv : European Journal of Physiology, 2010
LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.
Peroz D et al.
The Journal of Biological Chemistry, 2009
Sudden infant death syndrome: do ion channels play a role?
Van Norstrand DW et al.
Heart Rhythm, 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
Kv7.1 (KCNQ1) properties and channelopathies.
Peroz D et al.
The Journal of Physiology, 2008
The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.
Dahimène S et al.
Circulation Research, 2006
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Sudden infant death syndrome: how significant are the cardiac channelopathies?
Tester DJ et al.
Cardiovascular Research, 2005
Molecular diagnosis in a child with sudden infant death syndrome.
Schwartz PJ et al.
Lancet (london, England), 2001