Associated Papers
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
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 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
MicroRNA Biophysically Modulates Cardiac Action Potential by Direct Binding to Ion Channel.
Yang D et al.
Circulation, 2021
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
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
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
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
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
A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.
Hasegawa K et al.
Heart Rhythm, 2014
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
Long-term follow-up of a pediatric cohort with short QT syndrome.
Villafañe J et al.
Journal of the American College of Cardiology, 2013
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
Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling.
Adeniran I et al.
Cardiovascular Research, 2012
A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.
Hattori T et al.
Cardiovascular Research, 2012
Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome.
Casini S et al.
Cardiovascular Research, 2012
Andersen-Tawil Syndrome: A Comprehensive Review.
Pérez-Riera AR et al.
Cardiology in Review, 0