Associated Papers
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
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 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
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
Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders.
Sun C et al.
Life Sciences, 2018
Emerging therapeutic targets in the short QT syndrome.
Hancox JC et al.
Expert Opinion on Therapeutic Targets, 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
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
Short QT syndrome in pediatrics.
Pereira R et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 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
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 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