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
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
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
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M 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
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
Intracellular Mechanism of Rosuvastatin-Induced Decrease in Mature hERG Protein Expression on Membrane.
Feng PF et al.
Molecular Pharmaceutics, 2019
Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel.
Bertalovitz AC et al.
The Journal of Biological Chemistry, 2018
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Al-Hassnan ZN et al.
Heart Rhythm, 2017
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
Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.
Jagu B et al.
Frontiers in Physiology, 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
Mechanisms underlying the protein-kinase mediated regulation of the HERG potassium channel synthesis.
Krishnan Y et al.
Biochimica Et Biophysica Acta, 2012
Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death.
Duricka DL et al.
The Biochemical Journal, 2012
Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.
Wang Y et al.
Plos One, 2012
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
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Harkcom WT et al.
Expert Review of Cardiovascular Therapy, 2010
Long QT syndrome-associated I593R mutation in HERG potassium channel activates ER stress pathways.
Keller SH et al.
Cell Biochemistry and Biophysics, 2005
Mapping the receptor site for ergtoxin, a specific blocker of ERG channels.
Pardo-López L et al.
Febs Letters, 2002
Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2.
January CT et al.
Journal of Cardiovascular Electrophysiology, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.
Roden DM et al.
Cardiovascular Research, 1999
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
Yoshida H et al.
Journal of Cardiovascular Electrophysiology, 1999
Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.
Furutani M et al.
Circulation, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
The molecular basis of long QT syndrome and prospects for therapy.
Wang Q et al.
Molecular Medicine Today, 1998
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.
Zhou Z et al.
The Journal of Biological Chemistry, 1998
[Sudden death due to genetic and biochemical disorders --long QT syndrome].
Hoshino Y et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Missense mutation in the pore region of HERG causes familial long QT syndrome.
Benson DW et al.
Circulation, 1996