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
Catheter Ablation of Triggers and Arrhythmogenic Epicardial Substrates in Patients with QT Prolongation.
Yuniadi Y et al.
Archives of Medical Research, 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
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Immadisetty K et al.
Journal of Molecular and Cellular Cardiology, 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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.
Kanner SA et al.
Frontiers in Physiology, 2018
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.
Liu L et al.
Frontiers in 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
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.
McBride CM et al.
The Journal of Membrane Biology, 2013
HERG potassium channel regulation by the N-terminal eag domain.
Gustina AS et al.
Cellular Signalling, 2012
A422T mutation in HERG potassium channel retained in ER is rescurable by pharmacologic or molecular chaperones.
Guo J et al.
Biochemical and Biophysical Research Communications, 2012
Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.
Harley CA et al.
Plos One, 2012
Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
Gianulis EC et al.
The Journal of Biological Chemistry, 2011
Role of intracellular domains in the function of the herg potassium channel.
Al-Owais M et al.
European Biophysics Journal : Ebj, 2009
Importance of Knowing the Genotype and the Specific Mutation When Managing Patients with Long QT Syndrome.
Moss AJ et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Delisle BP et al.
Molecular Pharmacology, 2005
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
Rossenbacker T et al.
Circulation, 2005