Associated Papers
Opening closed inward rectifier potassium channel doors.
Stary-Weinzinger A et al.
British Journal of Pharmacology, 2026
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
SUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1.
Chandrashekar A et al.
The Journal of General Physiology, 2025
Compromised repolarization reserve in a murine model of catecholaminergic polymorphic ventricular tachycardia caused by RyR2-R420Q mutation.
Zissimopoulos S et al.
Journal of Molecular and Cellular Cardiology, 2025
Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes.
Munawar S et al.
Scientific Reports, 2025
K+ currents in ventricular cardiomyocytes of p.N98S-calmodulin mutant mice.
Guo S et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2025
Broadening the Phenotypic Range: KCNJ2 Variant Linked to Isolated Periodic Paralysis with Fixed Myopathy.
Nair AV et al.
Annals of Indian Academy of Neurology, 2025
Kir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.
Cruz FM et al.
Medrxiv : the Preprint Server for Health Sciences, 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
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN et al.
European Journal of Neurology, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 2022
Cardiac potassium inward rectifier Kir2: Review of structure, regulation, pharmacology, and arrhythmogenesis.
Reilly L et al.
Heart Rhythm, 2021
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Le Tanno P et al.
Frontiers in Genetics, 2021
Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.
Lang GT et al.
Nature Communications, 2020
Genetic Loss of IK1 Causes Adrenergic-Induced Phase 3 Early Afterdepolariz ations and Polymorphic and Bidirectional Ventricular Tachycardia.
Reilly L et al.
Circulation. Arrhythmia and Electrophysiology, 2020
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.
Miyamoto K et al.
Heart Rhythm, 2015
KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.
Kalscheur MM et al.
Heart Rhythm, 2014
Energetics and location of phosphoinositide binding in human Kir2.1 channels.
D'Avanzo N et al.
The Journal of Biological Chemistry, 2013
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
Limberg MM et al.
Basic Research in Cardiology, 2013
Phenotype variability in patients carrying KCNJ2 mutations.
Kimura H et al.
Circulation. Cardiovascular Genetics, 2012
Cardiac strong inward rectifier potassium channels.
Anumonwo JM et al.
Journal of Molecular and Cellular Cardiology, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
Vega AL et al.
Circulation. Arrhythmia and Electrophysiology, 2009
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
Eckhardt LL et al.
Heart Rhythm, 2007
Screening for KCNJ2 mutations: the physician's perspective.
Extramiana F
Heart Rhythm, 2007
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
Haruna Y et al.
Human Mutation, 2007
Cardiac channelopathies in pediatric patients - 7-years single center experience.
Illikova V et al.
Journal of Electrocardiology, 0