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
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 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
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
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
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
Perry MD et al.
The Journal of Physiology, 2016
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Interactions between voltage sensor and pore domains in a hERG K+ channel model from molecular simulations and the effects of a voltage sensor mutation.
Colenso CK et al.
Journal of Chemical Information and Modeling, 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
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
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
Anderson CL et al.
Circulation, 2006
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Delisle BP et al.
Molecular Pharmacology, 2005
Biology of cardiac arrhythmias: ion channel protein trafficking.
Delisle BP et al.
Circulation Research, 2004
Long-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel.
Huang FD et al.
Circulation, 2001
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
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 KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
Satler CA et al.
Human Genetics, 1998