Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC 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, 2026
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 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
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez J et al.
Revista Espanola De Cardiologia (english Ed.), 2017
Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.
Hyltén-Cavallius L et al.
Circulation, 2017
Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family.
Ichikawa M et al.
Internal Medicine (tokyo, Japan), 2016
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
The human ether-a-go-go-related gene activator NS1643 enhances epilepsy-associated KCNQ channels.
Li P et al.
The Journal of Pharmacology and Experimental Therapeutics, 2014
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
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties.
Lu X et al.
Heart Rhythm, 2013
A novel missense mutation causing a G487R substitution in the S2-S3 loop of human ether-à-go-go-related gene channel.
Kinoshita K et al.
Journal of Cardiovascular Electrophysiology, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.
Wang Y et al.
Plos One, 2012
The EGFP/hERG fusion protein alter the electrophysiological properties of hERG channels in HEK293 cells.
Huang N et al.
Cell Biology International, 2011
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
Lian J et al.
The Canadian Journal of Cardiology, 2010
T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome.
Kanters JK et al.
Heart Rhythm, 2004
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
Larsen LA et al.
Human Mutation, 2001
Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.
Larsen LA et al.
Clinical Chemistry, 2001
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
Larsen LA et al.
Clinical Genetics, 2000
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
Larsen LA et al.
Human Mutation, 1999
T(peak)T(end) interval in long QT syndrome.
Kanters JK et al.
Journal of Electrocardiology, 0