Associated Papers
Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.
Wilders R
Frontiers in Bioscience (landmark Edition), 2026
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
Gene-therapy in inherited channelopathies like short-QT syndrome: a robust direction towards precision medicine.
Hamdani N et al.
European Heart Journal, 2026
Molecular insights into the rescue mechanism of an HERG activator against severe LQT2 mutations.
Kumawat A et al.
Journal of Biomedical Science, 2025
The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.
Boulmpou A et al.
Journal of Personalized Medicine, 2025
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.
Zhao Z et al.
Ebiomedicine, 2024
Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.
Li S et al.
Gene, 2024
Human Genetics of Cardiac Arrhythmias.
Schulze-Bahr E et al.
Advances in Experimental Medicine and Biology, 2024
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.
Hancox JC et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Characterization of amiodarone action on currents in hERG-T618 gain-of-function mutations.
Lin M et al.
Open Life Sciences, 2023
Computational analysis of arrhythmogenesis in KCNH2 T618I mutation-associated short QT syndrome and the pharmacological effects of quinidine and sotalol.
Zhang S et al.
Npj Systems Biology and Applications, 2022
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.
Blanch-Asensio A et al.
Cell Reports Methods, 2022
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R et al.
European Heart Journal, 2022
Identification through action potential clamp of proarrhythmic consequences of the short QT syndrome T618I hERG 'hotspot' mutation.
Du C et al.
Biochemical and Biophysical Research Communications, 2022
Preclinical short QT syndrome models: studying the phenotype and drug-screening.
Fan X 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, 2022
Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.
Martínez-Barrios E et al.
Biomedicines, 2022
Human-induced pluripotent stem cells as models for rare cardiovascular diseases: from evidence-based medicine to precision medicine.
Pan Z et al.
Pflugers Archiv : European Journal of Physiology, 2021
Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.
Micheu MM et al.
World Journal of Stem Cells, 2021
Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.
Belletti R et al.
Frontiers in Physiology, 2021
The evolution of gene-guided management of inherited arrhythmia syndromes: Peering beyond monogenic paradigms towards comprehensive genomic risk scores.
Rowe MK et al.
Journal of Cardiovascular Electrophysiology, 2020
Heritable arrhythmias associated with abnormal function of cardiac potassium channels.
Crotti L et al.
Cardiovascular Research, 2020
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
Pourrier M et al.
International Journal of Molecular Sciences, 2020
The Pore-Lipid Interface: Role of Amino-Acid Determinants of Lipophilic Access by Ivabradine to the hERG1 Pore Domain.
Perissinotti L et al.
Molecular Pharmacology, 2019
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Butler A et al.
Heliyon, 2019
Patient-Specific and Gene-Corrected Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Short QT Syndrome.
Guo F et al.
Circulation Research, 2019
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Molecular Insights into the Short QT Syndrome.
Perike S et al.
The Journal of Innovations in Cardiac Rhythm Management, 2018
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome.
Darbar D et al.
Jacc. Clinical Electrophysiology, 2017
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D et al.
Jacc. Clinical Electrophysiology, 2017
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
The Mutation P.T613a in the Pore Helix of the Kv 11.1 Potassium Channel is Associated with Long QT Syndrome.
Poulsen KL et al.
Pacing and Clinical Electrophysiology : Pace, 2015
The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene.
Giustetto C et al.
Heartrhythm Case Reports, 2015
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 2015
Novel insight into the natural history of short QT syndrome.
Mazzanti A et al.
Journal of the American College of Cardiology, 2014
HERG1 channel agonists and cardiac arrhythmia.
Sanguinetti MC
Current Opinion in Pharmacology, 2014
Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.
Perry MD et al.
The Journal of Biological Chemistry, 2013
Genetics of cardiac electrical disease.
Perrin MJ et al.
The Canadian Journal of Cardiology, 2013