Associated Papers
KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance.
Zheng XF et al.
Molecular Genetics & Genomic 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
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 2024
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
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Precision Medicine and Cardiac Channelopathies: Human iPSCs Take the Lead.
Sebastian SA et al.
Current Problems in Cardiology, 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
The cellular pathways that maintain the quality control and transport of diverse potassium channels.
Nguyen NH et al.
Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms, 2023
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
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Long QT syndrome type 2: mechanism-based therapies.
Cox KO et al.
Future Cardiology, 2021
Role and mechanism of chaperones calreticulin and ERP57 in restoring trafficking to mutant HERG‑A561V protein.
Wu Y et al.
International Journal of Molecular Medicine, 2021
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K et al.
Circulation. Genomic and Precision Medicine, 2021
Pharmacological corrections of the mutant hERG channels by posaconazole.
Luo C et al.
Clinical and Experimental Pharmacology & Physiology, 2021
Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.
Dotzler SM et al.
Circulation, 2021
Gene therapy for inherited arrhythmias.
Bezzerides VJ et al.
Cardiovascular Research, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Long QT Syndrome: Genetics and Future Perspective.
Wallace E et al.
Pediatric Cardiology, 2019
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 2019
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
Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.
Ma S et al.
International Journal of Molecular Medicine, 2019
Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography.
Tanaka Y et al.
Heart and Vessels, 2019
The role and mechanism of chaperones Calnexin/Calreticulin in which ALLN selectively rescues the trafficking defective of HERG-A561V mutation.
Wang Y et al.
Bioscience Reports, 2018
Pharmacological rescue of hERG currents carried out by G604S and wide type hERG co-expression.
Huo J et al.
Clinical and Experimental Pharmacology & Physiology, 2016
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
Hayashi K et al.
Jacc. Clinical Electrophysiology, 2016
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
Hayashi K et al.
Circulation. Arrhythmia and Electrophysiology, 2015
RNA interference-based therapeutics for inherited long QT syndrome.
Li G et al.
Experimental and Therapeutic Medicine, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties.
Lu X et al.
Heart Rhythm, 2013
Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.
Mao H et al.
Plos One, 2013
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Proton block of the pore underlies the inhibition of hERG cardiac K+ channels during acidosis.
Van Slyke AC et al.
American Journal of Physiology. Cell Physiology, 2012
Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.
Wang Y et al.
Plos One, 2012
Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome.
Amorós I et al.
Heart Rhythm, 2011
Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.
Hsueh CH et al.
Biochemical and Biophysical Research Communications, 2008
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.
Inoue M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2003
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
Hayashi K et al.
Cardiovascular Research, 2002