Associated Papers
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
The network of cardiac KIR2.1: its function, cellular regulation, electrical signaling, diseases and new drug avenues.
Li E et al.
Naunyn-schmiedeberg's Archives of Pharmacology, 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
The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.
Moreno-Manuel AI et al.
Cardiovascular Research, 2024
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
Verification of the Efficacy of Mexiletine Treatment for the A1656D Mutation on Downgrading Reentrant Tachycardia Using a 3D Cardiac Electrophysiological Model.
Qauli AI et al.
Bioengineering (basel, Switzerland), 2022
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 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
Investigation of the Effects of the Short QT Syndrome D172N Kir2.1 Mutation on Ventricular Action Potential Profile Using Dynamic Clamp.
Du C et al.
Frontiers in Pharmacology, 2021
Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.
Hager NA et al.
Frontiers in Cell and Developmental Biology, 2021
Heritable arrhythmias associated with abnormal function of cardiac potassium channels.
Crotti L et al.
Cardiovascular Research, 2020
Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.
Jeong DU et al.
Computational and Mathematical Methods in Medicine, 2020
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Correction: Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.
Unknown Author
Plos Computational Biology, 2019
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 2018
Hydrocinnamic Acid Inhibits the Currents of WT and SQT3 Syndrome-Related Mutants of Kir2.1 Channel.
Ren S et al.
The Journal of Membrane Biology, 2017
PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression.
Ji Y et al.
Journal of Biomedical Science, 2017
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.
Whittaker DG et al.
Plos Computational Biology, 2017
Styrax blocks inward and outward current of Kir2.1 channel.
Ren S et al.
Channels (austin, Tex.), 2017
Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.
Cubeddu LX
Current Cardiology Reviews, 2016
Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1.
Meijer van Putten RM et al.
Frontiers in Physiology, 2015
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E et al.
Human Molecular Genetics, 2014
Novel insight into the natural history of short QT syndrome.
Mazzanti A et al.
Journal of the American College of Cardiology, 2014
Improved understanding of the pathophysiology of atrial fibrillation through the lens of discrete pathological pathways.
Balouch MA et al.
Global Cardiology Science & Practice, 2014
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.
Deo M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Andersen-Tawil Syndrome: A Comprehensive Review.
Pérez-Riera AR et al.
Cardiology in Review, 0