Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.
Anderson CL et al.
The Journal of Biological Chemistry, 2026
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
Subunit gating resulting from individual protonation events in Kir2 channels.
Maksaev G et al.
Nature Communications, 2023
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
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
Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.
Heikhmakhtiar AK et al.
Journal of Korean Medical Science, 2020
Heritable arrhythmias associated with abnormal function of cardiac potassium channels.
Crotti L et al.
Cardiovascular Research, 2020
Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry.
Heikhmakhtiar AK et al.
Medical & Biological Engineering & Computing, 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
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 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
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
Binda A et al.
Frontiers in Cellular Neuroscience, 2018
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
Modelling the effects of chloroquine on KCNJ2-linked short QT syndrome.
Luo C et al.
Oncotarget, 2017
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization.
Mazzanti A et al.
Journal of Cardiovascular Electrophysiology, 2017
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
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles.
Luo C et al.
Physiological Measurement, 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
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
Hu D et al.
Jacc. Clinical Electrophysiology, 2017
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study.
Luo C et al.
Biomedical Engineering Online, 2017
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 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
The molecular basis of chloroethylclonidine block of inward rectifier (Kir2.1 and Kir4.1) K(+) channels.
Rodríguez-Menchaca AA et al.
Pharmacological Reports : Pr, 2016
To the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico.
Hancox JC et al.
Heart Rhythm, 2015
Flow- and voltage-dependent blocking effect of ethosuximide on the inward rectifier K⁺ (Kir2.1) channel.
Huang CW et al.
Pflugers Archiv : European Journal of Physiology, 2015
Driving force-dependent block by internal Ba(2+) on the Kir2.1 channel: Mechanistic insight into inward rectification.
Hsieh CP et al.
Biophysical Chemistry, 2015
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
Harrell DT et al.
International Journal of Cardiology, 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