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
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients.
Yang J et al.
Orphanet Journal of Rare Diseases, 2025
Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele.
Wilders R
International Journal of Molecular Sciences, 2024
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
Bukaeva A et al.
International Journal of Molecular Sciences, 2024
Correction: "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 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
Epilepsy genetics in the paediatric population of the Eastern Anatolia region of Turkey.
Yarali O et al.
Journal of Neurogenetics, 2024
"Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".
Martin S et al.
Bmc Cardiovascular Disorders, 2024
In silico models of the macromolecular NaV1.5-KIR2.1 complex.
Stary-Weinzinger A
Frontiers in Physiology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
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
Hypertrophic obstructive cardiomyopathy complicated with acute myocardial infarction and diffuse fibrosis: surgery or not?
Wang Y et al.
Bmc Cardiovascular Disorders, 2022
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 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
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 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
The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.
Liu X et al.
Molecular Genetics & Genomic 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
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
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
Lin Y et al.
Circulation. Cardiovascular Genetics, 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
Genotype influence in responses to therapy for atrial fibrillation.
Huang H et al.
Expert Review of Cardiovascular Therapy, 2016
Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.
Weeke P et al.
Circulation. Cardiovascular Genetics, 2015
Insights in KIR2.1 channel structure and function by an evolutionary approach; cloning and functional characterization of the first reptilian inward rectifier channel KIR2.1, derived from the California kingsnake (Lampropeltis getula californiae).
Houtman MJ et al.
Biochemical and Biophysical Research Communications, 2014
Atrial fibrillation: the role of common and rare genetic variants.
Olesen MS et al.
European Journal of Human Genetics : Ejhg, 2014
Identification of novel cholesterol-binding regions in Kir2 channels.
Rosenhouse-Dantsker A et al.
The Journal of Biological Chemistry, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 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
Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillation - insights from modelling.
Kharche S et al.
The Journal of Physiology, 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
Activity-dependent callosal axon projections in neonatal mouse cerebral cortex.
Tagawa Y et al.
Neural Plasticity, 2012
Monogenic atrial fibrillation as pathophysiological paradigms.
Mahida S et al.
Cardiovascular Research, 2011
The mammalian K(IR)2.x inward rectifier ion channel family: expression pattern and pathophysiology.
de Boer TP et al.
Acta Physiologica (oxford, England), 2010
Cardiac strong inward rectifier potassium channels.
Anumonwo JM et al.
Journal of Molecular and Cellular Cardiology, 2010
Molecular genetics of atrial fibrillation.
Tsai CT et al.
Journal of the American College of Cardiology, 2008
Atrial fibrillation--a new cardiac channelopathy.
Otway R et al.
Heart, Lung & Circulation, 2007
Mapping a novel locus for familial atrial fibrillation on chromosome 10p11-q21.
Volders PG et al.
Heart Rhythm, 2007