Associated Papers
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.
Li Q et al.
Reviews in Cardiovascular Medicine, 2025
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
4-phenylbutyric acid re-trafficking hERG/G572R channel protein by modulating the endoplasmic reticulum stress-associated chaperones and endoplasmic reticulum-associated degradation gene.
Tang W et al.
Journal of Thoracic Disease, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.
El Harchi A et al.
Journal of Arrhythmia, 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
Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.
Nakajima T et al.
International Journal of Molecular Sciences, 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 Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2.
van den Brink L et al.
Frontiers in Physiology, 2021
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
Long QT Syndrome: Genetics and Future Perspective.
Wallace E et al.
Pediatric Cardiology, 2019
Large-Scale Simulation of the Phenotypical Variability Induced by Loss-of-Function Long QT Mutations in Human Induced Pluripotent Stem Cell Cardiomyocytes.
Paci M et al.
International Journal of Molecular Sciences, 2018
Structural Immaturity of Human iPSC-Derived Cardiomyocytes: In Silico Investigation of Effects on Function and Disease Modeling.
Koivumäki JT et al.
Frontiers in Physiology, 2018
Drug-Mediated Shortening of Action Potentials in LQTS2 Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Duncan G et al.
Stem Cells and Development, 2017
Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.
Giacomelli E et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Human iPSC-Derived Cardiomyocytes for Investigation of Disease Mechanisms and Therapeutic Strategies in Inherited Arrhythmia Syndromes: Strengths and Limitations.
Casini S et al.
Cardiovascular Drugs and Therapy, 2017
Molecular pathogenesis of long QT syndrome type 2.
Smith JL et al.
Journal of Arrhythmia, 2016
A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells.
Sala L et al.
Embo Molecular Medicine, 2016
iPCS Cell Modeling of Inherited Cardiac Arrhythmias.
Shinnawi R et al.
Current Treatment Options in Cardiovascular Medicine, 2014
Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes.
Mehta A et al.
Cardiovascular Research, 2014
Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.
Bellin M et al.
The Embo Journal, 2013
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.
Tan HL et al.
Circulation, 2006
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.
Khositseth A et al.
Heart Rhythm, 2004