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
Clinical characteristics and gene analysis of long QT syndrome in 15 children.
Yiwei L et al.
Frontiers in Pediatrics, 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
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF et al.
Molecular Syndromology, 2023
Gastric cancer with distinct Epstein-Barr virus-positive and -negative tumor components and their whole exome sequencing result: a case Report.
Park KB et al.
Diagnostic Pathology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Déri S et al.
Cardiovascular Research, 2021
Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.
Weng S et al.
Plos One, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Pengelly RJ et al.
Journal of Medical Genetics, 2016
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Kostera-Pruszczyk A et al.
Muscle & Nerve, 2015
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
Delannoy E 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, 2013
Cardiac strong inward rectifier potassium channels.
Anumonwo JM et al.
Journal of Molecular and Cellular Cardiology, 2010
Inwardly rectifying potassium channels: their structure, function, and physiological roles.
Hibino H et al.
Physiological Reviews, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
Platt D et al.
Current Opinion in Neurology, 2009
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
Ventricular ectopy during REM sleep: implications for nocturnal sudden cardiac death.
Garcia-Touchard A et al.
Nature Clinical Practice. Cardiovascular Medicine, 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
Screening for KCNJ2 mutations: the physician's perspective.
Extramiana F
Heart Rhythm, 2007
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Davies NP et al.
Neurology, 2005
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
[Andersen-Tawil Syndrome, a differential of bidirectional ventricular tachycardia: a case report].
Tejeda-Camargo MJ et al.
Archivos Peruanos De Cardiologia Y Cirugia Cardiovascular, 0