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
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
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
Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Yee LA et al.
Journal of the American Heart Association, 2022
Human induced pluripotent stem cell line ZZUNEUi027-A generated from a long QT syndrome patient with a heterozygous KCNH2 (c. 128 A > G) mutant.
Zhao J et al.
Stem Cell Research, 2022
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Getting to the heart of hERG K(+) channel gating.
Perry MD et al.
The Journal of Physiology, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.
Ke Y et al.
The Journal of Biological Chemistry, 2014
The structural mechanism of KCNH-channel regulation by the eag domain.
Haitin Y et al.
Nature, 2013
Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions.
Ke Y et al.
The Biochemical Journal, 2013
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 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
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
Napolitano C et al.
Jama, 2005