Associated Papers
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.
Glazer AM et al.
Nature Reviews. Cardiology, 2026
High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.
Dolder RE et al.
Circulation. Genomic and Precision Medicine, 2026
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
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2025
Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.
Xiang Y et al.
Plos Computational Biology, 2025
A physiologically-relevant intermediate state structure of a voltage-gated potassium channel.
Kyriakis E et al.
Nature Communications, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Vanoye CG et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Genome Medicine, 2024
Generation of an induced pluripotent stem cell line from patient with atrial fibrillation with KCNQ1 p.Ser209Pro mutation.
Cen Y et al.
Stem Cell Research, 2024
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A et al.
Biorxiv : the Preprint Server for Biology, 2023
Electromechanical reciprocity and arrhythmogenesis in long-QT syndrome and beyond.
Odening KE et al.
European Heart Journal, 2022
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD et al.
Journal of Neurophysiology, 2022
PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.
Guo XJ et al.
Journal of the American Heart Association, 2021
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Familial atrial rapid fibrillation associated with double mutations of SCN5A and KCNQ1.
Kanai M et al.
Cardiology in the Young, 2021
Physiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.
Sanguinetti MC et al.
Advances in Experimental Medicine and Biology, 2021
Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.
Wu X et al.
International Journal of Molecular Sciences, 2020
The molecular genetic basis of atrial fibrillation.
Huang X et al.
Human Genetics, 2020
Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.
Kuenze G et al.
Elife, 2020
Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.
Heikhmakhtiar AK et al.
Journal of Korean Medical Science, 2020
The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.
Dixit G et al.
Biochimica Et Biophysica Acta. Biomembranes, 2020
Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry.
Heikhmakhtiar AK et al.
Medical & Biological Engineering & Computing, 2020
Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.
Hammami Bomholtz S et al.
Pacing and Clinical Electrophysiology : Pace, 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
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.
Jeong DU et al.
Computational and Mathematical Methods in Medicine, 2020
Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.
Wang Y et al.
Frontiers in Physiology, 2020
Molecular and genetic insights into progressive cardiac conduction disease.
Asatryan B et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2019
Mutation in NPPA causes atrial fibrillation by activating inflammation and cardiac fibrosis in a knock-in rat model.
Cheng C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.
Unknown Author
Plos Computational Biology, 2019
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Butler A et al.
Heliyon, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 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
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Influence of the KCNQ1 S140G Mutation on Human Ventricular Arrhythmogenesis and Pumping Performance: Simulation Study.
Jeong DU et al.
Frontiers in Physiology, 2018
Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.
Whittaker DG et al.
Frontiers in Physiology, 2018
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
Antúnez-Argüelles E et al.
Gene, 2017
In silico investigation of a KCNQ1 mutation associated with short QT syndrome.
Adeniran I et al.
Scientific Reports, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Gating mechanisms underlying deactivation slowing by two KCNQ1 atrial fibrillation mutations.
Peng G et al.
Scientific Reports, 2017
Genotype influence in responses to therapy for atrial fibrillation.
Huang H et al.
Expert Review of Cardiovascular Therapy, 2016
Computational simulations of the effects of the G229D KCNQ1 mutation on human atrial fibrillation.
Zulfa I et al.
The Journal of Physiological Sciences : Jps, 2016