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
Genetic Variants in Potassium Channel Genes and Their Clinical Implications in Kazakhstani Patients with Cardiac Arrhythmias.
Chamoieva A et al.
Journal of Personalized Medicine, 2026
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
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
L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.
Wang M et al.
American Journal of Translational Research, 2020
Allelic Complexity in Long QT Syndrome: A Family-Case Study.
Zullo A et al.
International Journal of Molecular Sciences, 2017
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
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
Izumi G et al.
Pediatric Cardiology, 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
HERG potassium channel regulation by the N-terminal eag domain.
Gustina AS et al.
Cellular Signalling, 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
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
Moss AJ et al.
Circulation, 2002
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
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
Chen J et al.
The Journal of Biological Chemistry, 1999