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
Generation of a human embryonic stem cell line WAe009-A-79 carrying a long QT syndrome mutation in KCNQ1.
Wang H et al.
Stem Cell Research, 2023
KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.
Song Y et al.
Stem Cell Research & Therapy, 2022
Base Editing of Human Pluripotent Stem Cells for Modeling Long QT Syndrome.
Wu F et al.
Stem Cell Reviews and Reports, 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
Targeted deubiquitination rescues distinct trafficking-deficient ion channelopathies.
Kanner SA et al.
Nature Methods, 2020
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease.
Qi T et al.
Frontiers in Cell and Developmental Biology, 2020
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Upgraded molecular models of the human KCNQ1 potassium channel.
Kuenze G et al.
Plos One, 2019
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Huang H et al.
Science Advances, 2018
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
Regulation of transport across cell membranes by the serum- and glucocorticoid-inducible kinase SGK1.
Lang F et al.
Molecular Membrane Biology, 2014
Regulation of ion channels by the serum- and glucocorticoid-inducible kinase SGK1.
Lang F et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Regions of KCNQ K(+) channels controlling functional expression.
Choveau FS et al.
Frontiers in Physiology, 2012
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
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
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
Jongbloed R et al.
Human Mutation, 2002
Serum- and glucocorticoid-inducible kinases (SGK) regulate KCNQ1/KCNE potassium channels.
Strutz-Seebohm N et al.
Channels (austin, Tex.), 0