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
Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.
Marcoux E et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
Hateley S et al.
Nature Communications, 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
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Dixit G et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.
Goodyer WR et al.
Circulation. Genomic and Precision Medicine, 2019
Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.
Zhou X et al.
Frontiers in Physiology, 2019
Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.
Yuniarti AR et al.
International Journal for Numerical Methods in Biomedical Engineering, 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
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 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
Early repolarization is associated with symptoms in patients with type 1 and type 2 long QT syndrome.
Laksman ZW et al.
Heart Rhythm, 2014
Recent molecular insights from mutated IKS channels in cardiac arrhythmia.
Dvir M et al.
Current Opinion in Pharmacology, 2014
A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation.
Ki CS et al.
Pflugers Archiv : European Journal of Physiology, 2014
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.
Bartos DC et al.
Heart Rhythm, 2014
A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.
Hasegawa K et al.
Heart Rhythm, 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.
Bartos DC et al.
Journal of Cardiovascular Electrophysiology, 2013
The S140G KCNQ1 atrial fibrillation mutation affects 'I(KS)' profile during both atrial and ventricular action potentials.
El Harchi A et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2010
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.
Johnson JN et al.
Heart Rhythm, 2008
Structural models for the KCNQ1 voltage-gated potassium channel.
Smith JA et al.
Biochemistry, 2007
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C et al.
Jama, 2005
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation.
Hancox JC et al.
Journal of Electrocardiology, 0
Disease-linked supertrafficking of a potassium channel.
Huang H et al.
The Journal of Biological Chemistry, 0