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
When the U Wave Tells the Story: Andersen-Tawil Syndrome Unmasked.
Yu S et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 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
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Monitoring of compound resting membrane potentials of cell cultures with ratiometric genetically encoded voltage indicators.
Rühl P et al.
Communications Biology, 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
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
A study supporting possible expression of inward-rectifying potassium channel 2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome.
Shibuya K et al.
Muscle & Nerve, 2019
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
A Critical Neurodevelopmental Role for L-Type Voltage-Gated Calcium Channels in Neurite Extension and Radial Migration.
Kamijo S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Three pairs of weak interactions precisely regulate the G-loop gate of Kir2.1 channel.
Li J et al.
Proteins, 2016
A Common Signal Patch Drives AP-1 Protein-dependent Golgi Export of Inwardly Rectifying Potassium Channels.
Li X et al.
The Journal of Biological Chemistry, 2016
Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
Ördög B et al.
Canadian Journal of Physiology and Pharmacology, 2015
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
Potential use of potassium efflux-deficient yeast for studying trafficking signals and potassium channel functions.
Bernstein JD et al.
Febs Open Bio, 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
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
Doi T et al.
Circulation. Cardiovascular Genetics, 2011
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
Case-control analysis of SNPs in GLUT4, RBP4 and STRA6: association of SNPs in STRA6 with type 2 diabetes in a South Indian population.
Nair AK et al.
Plos One, 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
A comprehensive guide to the ROMK potassium channel: form and function in health and disease.
Welling PA et al.
American Journal of Physiology. Renal Physiology, 2009
Physiologic regulation of the epithelial sodium channel by phosphatidylinositides.
Pochynyuk O et al.
Current Opinion in Nephrology and Hypertension, 2008
Reduction of complex ventricular ectopy and improvement in exercise capacity with flecainide therapy in Andersen-Tawil syndrome.
Fox DJ 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, 2008
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
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
Bendahhou S et al.
Human Molecular Genetics, 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
An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway.
Ma D et al.
The Journal of Biological Chemistry, 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
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Ballester LY et al.
Human Mutation, 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
KCNJ2 mutation in intractable ventricular arrhythmia with Andersen's syndrome.
Takahashi T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2005
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
Bendahhou S et al.
The Journal of Biological Chemistry, 2003
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Tristani-Firouzi M et al.
The Journal of Clinical Investigation, 2002
The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating.
Fallen K et al.
Channels (austin, Tex.), 0
[Andersen-Tawil syndrome: a review of its clinical and genetic diagnosis with emphasis on cardiac manifestations].
Márquez MF et al.
Archivos De Cardiologia De Mexico, 0