Associated Papers
Opening closed inward rectifier potassium channel doors.
Stary-Weinzinger A et al.
British Journal of Pharmacology, 2026
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
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.
Miyamoto K et al.
Heart Rhythm, 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
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
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
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 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
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
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
Haruna Y et al.
Human Mutation, 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
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
Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.
Lange PS et al.
Cardiovascular Research, 2003
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR et al.
Neurology, 2003
Ser165 in the second transmembrane region of the Kir2.1 channel determines its susceptibility to blockade by intracellular Mg2+.
Fujiwara Y et al.
The Journal of General Physiology, 2002
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Tristani-Firouzi M et al.
The Journal of Clinical Investigation, 2002
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies.
Lopes CM et al.
Neuron, 2002
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM et al.
Cell, 2001