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
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
Potassium-sensitive loss of muscle force in the setting of reduced inward rectifier K+ current: Implications for Andersen-Tawil syndrome.
Elia N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Management of ultrarare inherited arrhythmia syndromes.
Roston TM et al.
Heart Rhythm, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
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
Bioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Polanco C et al.
Mathematical Biosciences and Engineering : Mbe, 2019
Andersen's syndrome mutants produce a knockdown of inwardly rectifying K+ channel in mouse skeletal muscle in vivo.
Simkin D et al.
Cell and Tissue Research, 2018
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
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
Kostera-Pruszczyk A et al.
Muscle & Nerve, 2015
The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.
Sacco S et al.
Human Molecular Genetics, 2015
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
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
[QTU pattern in a patient with the Anderson-Tawil syndrome].
Ciurzyński M et al.
Kardiologia Polska, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.
Vega AL et al.
Circulation. Arrhythmia and Electrophysiology, 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
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
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
Modeling of IK1 mutations in human left ventricular myocytes and tissue.
Seemann G et al.
American Journal of Physiology. Heart and Circulatory Physiology, 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
Andersen-Tawil syndrome.
Smith AH et al.
Indian Pacing and Electrophysiology Journal, 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
Cytoplasmic domain structures of Kir2.1 and Kir3.1 show sites for modulating gating and rectification.
Pegan S et al.
Nature Neuroscience, 2005
Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome.
Fodstad H et al.
Journal of Molecular and Cellular Cardiology, 2004
Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome.
Ricardo Pérez Riera A et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2004
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
T-wave patterns associated with the hereditary long QT syndrome.
Moss AJ
Cardiac Electrophysiology Review, 2002
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Tristani-Firouzi M et al.
The Journal of Clinical Investigation, 2002
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
Ai T et al.
Circulation, 2002
Channelopathies: Kir2.1 mutations jeopardize many cell functions.
Jongsma HJ et al.
Current Biology : Cb, 2001
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM et al.
Cell, 2001
[Ventricular arrhythmias of catecholaminergic origin and sudden death].
Jalife J
Archivos De Cardiologia De Mexico, 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
Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.
Márquez MF et al.
Archivos De Cardiologia De Mexico, 0