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
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Novel mutation in KCNJ2 gene causes long QT interval syndrome type 7 and learning disability: A case report.
Zhang HY et al.
Medicine, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.
Stroeks SLVM et al.
European Journal of Human Genetics : Ejhg, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 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
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
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.
Adams DS et al.
The Journal of Physiology, 2016
Expression of a Mutant kcnj2 Gene Transcript in Zebrafish.
Leong IU et al.
Isrn Molecular Biology, 2013
Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
Barajas-Martinez H et al.
Circulation. Cardiovascular Genetics, 2011
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Diagnosis and new treatment in muscle channelopathies.
Meola G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2009
Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.
Decher N et al.
Cardiovascular Research, 2007
T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
Tani Y et al.
Journal of Molecular and Cellular Cardiology, 2007
Management and treatment of Andersen-Tawil syndrome (ATS).
Sansone V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
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
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
Lu CW et al.
Journal of Medical Genetics, 2006
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Ballester LY et al.
Human Mutation, 2006
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
Yoon G et al.
American Journal of Medical Genetics. Part A, 2006
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
Zhang L et al.
Circulation, 2005
Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction.
Schulze-Bahr E
Circulation Research, 2005
Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification.
Pegan S et al.
Nature Neuroscience, 2005
Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
Fodstad H et al.
Journal of Molecular and Cellular Cardiology, 2004
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
Bendahhou S et al.
The Journal of Biological Chemistry, 2003
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR et al.
Neurology, 2003