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
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
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
A Possible Explanation for the Low Penetrance of Pathogenic KCNE1 Variants in Long QT Syndrome Type 5.
Déri S et al.
Pharmaceuticals (basel, Switzerland), 2022
Cryo-electron microscopy unveils unique structural features of the human Kir2.1 channel.
Fernandes CAH et al.
Science Advances, 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
Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
Zaklyazminskaya E et al.
Genes, 2022
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Wang Q et al.
Channels (austin, Tex.), 2021
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
Andersen-Tawil syndrome presenting as premenstrual periodic paralysis.
Parihar J et al.
Muscle & Nerve, 2021
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
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
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
Clinical and neurophysiological variability in Andersen-Tawil syndrome.
Kokubun N et al.
Muscle & Nerve, 2019
[Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome].
Sun H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
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
Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Krych M et al.
Journal of Cardiology, 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
Structural Basis for Differences in Dynamics Induced by Leu Versus Ile Residues in the CD Loop of Kir Channels.
Lü S et al.
Molecular Neurobiology, 2016
Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.
Jagodzińska M et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2016
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.
Miyamoto K et al.
Heart Rhythm, 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
Phenotype variability in patients carrying KCNJ2 mutations.
Kimura H et al.
Circulation. Cardiovascular Genetics, 2012
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
Seebohm G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
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 RCK2 domain uses a coordination site present in Kir channels to confer sodium sensitivity to Slo2.2 channels.
Zhang Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Phosphatidylinositol-4,5-bisphosphate (PIP2) regulation of strong inward rectifier Kir2.1 channels: multilevel positive cooperativity.
Xie LH et al.
The Journal of Physiology, 2008
Phosphoinositide-mediated gating of inwardly rectifying K(+) channels.
Logothetis DE et al.
Pflugers Archiv : European Journal of Physiology, 2007
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
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
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
Haruna Y et al.
Human Mutation, 2007
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
Choi BO et al.
Journal of Human Genetics, 2007
Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.
Pegan S et al.
Biochemistry, 2006
Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.
Yoon G et al.
American Journal of Medical Genetics. Part A, 2006
In vivo and in vitro functional characterization of Andersen's syndrome mutations.
Bendahhou S et al.
The Journal of Physiology, 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
Short QT syndrome or Andersen syndrome: Yin and Yang of Kir2.1 channel dysfunction.
Schulze-Bahr E
Circulation Research, 2005