Associated Papers
Opening closed inward rectifier potassium channel doors.
Stary-Weinzinger A et al.
British Journal of Pharmacology, 2026
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.
Li Q et al.
Reviews in Cardiovascular Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
Onore ME et al.
Biomolecules, 2024
Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
Cruz FM et al.
Circulation Research, 2024
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.
Verdonschot JAJ et al.
Circulation. Genomic and Precision Medicine, 2024
[Genetic testing in daily clinical practice according to the guidelines : How do we proceed?]
Wolpert C
Herzschrittmachertherapie & Elektrophysiologie, 2024
Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.
Wang J et al.
Frontiers in Neurology, 2024
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.
Cruz FM et al.
Biorxiv : the Preprint Server for Biology, 2023
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.
Liu Z et al.
Seminars in Perinatology, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Genetic diagnosis for adult patients at a genetic clinic.
Rojnueangnit K et al.
Cold Spring Harbor Molecular Case Studies, 2022
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Vivekanandam V et al.
Brain : a 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
Case report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome.
Yang J et al.
Frontiers in Cardiovascular Medicine, 2022
Altered phosphatidylinositol regulation of mutant inwardly rectifying K+ Kir7.1 channels associated with inherited retinal degeneration disease.
Vera E et al.
The Journal of Physiology, 2021
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Le Tanno P et al.
Frontiers in Genetics, 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
Andersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes.
Barrón-Díaz DR et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020
Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.
Nakao S et al.
European Cardiology, 2020
Andersen-Tawil syndrome associated with myopathy.
Wu L et al.
World Journal of Emergency Medicine, 2020
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
Intrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.
Ardissone A et al.
Neuromuscular Disorders : Nmd, 2017
Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.
Kuroda Y et al.
Biochemistry and Biophysics Reports, 2017
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome.
Van Ert HA et al.
Heartrhythm Case Reports, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Andersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases.
Oz Tuncer G et al.
Journal of Neuromuscular Diseases, 2017
Sanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome.
Totomoch-Serra A et al.
F1000research, 2017
Clinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
Song J et al.
Muscle & Nerve, 2016
Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2016
Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report.
Fan R et al.
Experimental and Therapeutic Medicine, 2016
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
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
Rarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).
Tully I et al.
International Journal of Cardiology, 2015
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.
Miyamoto K et al.
Heart Rhythm, 2015
Andersen-Tawil syndrome with early fixed myopathy.
Lefter S et al.
Journal of Clinical Neuromuscular Disease, 2014
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
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
Phenotype variability in patients carrying KCNJ2 mutations.
Kimura H et al.
Circulation. Cardiovascular Genetics, 2012
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
Díaz-Manera J et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011