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
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 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
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
Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.
Zhong L et al.
Circulation Research, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Estimating the probability of early afterdepolarizations and predicting arrhythmic risk associated with long QT syndrome type 1 mutations.
Jin Q et al.
Biophysical Journal, 2023
Fetal Heart Rate < 3rd Percentile for Gestational Age Can Be a Marker of Inherited Arrhythmia Syndromes.
Chaudhry-Waterman N et al.
Journal of Clinical Medicine, 2023
SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome.
Kim M et al.
Heart Rhythm O2, 2023
Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
O'Neill MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Suppression and Replacement Gene Therapy for KCNH2-Mediated Arrhythmias.
Bains S et al.
Circulation. Genomic and Precision Medicine, 2022
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.
Braun C et al.
Communications Biology, 2021
Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.
Schwartz PJ et al.
European Heart Journal, 2021
Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.
Kasak L et al.
Journal of the American Heart Association, 2021
Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study.
Marstrand P et al.
Open Heart, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.
Dotzler SM et al.
Circulation, 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
Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.
Kashiwa A et al.
Circulation. Genomic and Precision Medicine, 2020
Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.
Hou P et al.
Nature Communications, 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
Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.
Wang Y et al.
Frontiers in Physiology, 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
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan ZA
Heart Rhythm, 2018
A challenge for mutation specific risk stratification in long QT syndrome type 1.
Yagi N et al.
Journal of Cardiology, 2018
Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.
Amirian A et al.
Journal of Arrhythmia, 2018
Re-evaluating pathogenicity of variants associated with the long QT syndrome.
Kaltman JR et al.
Journal of Cardiovascular Electrophysiology, 2018
Video-Assisted Thoracoscopic Left Cardiac Sympathetic Denervation in Patients with Hereditary Ventricular Arrhythmias.
Jang SY et al.
Pacing and Clinical Electrophysiology : Pace, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 2016
Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
Ruwald MH et al.
Heart Rhythm, 2016
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 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