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
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
35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322
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
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
Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.
Garg P et al.
Circulation Research, 2018
Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation.
Gélinas R et al.
Circulation. Cardiovascular Genetics, 2017
Commercially Available Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Another Piece in Our Tool Box, but Not a Swiss Army Knife Yet.
Boldt LH et al.
Circulation. Cardiovascular Genetics, 2017
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Kostera-Pruszczyk A et al.
Muscle & Nerve, 2015
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