Associated Papers
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
Endocannabinoid regulation of inward rectifier potassium (Kir) channels.
Mayar S et al.
Frontiers in Pharmacology, 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
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
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
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
Lim BC et al.
Journal of Child Neurology, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
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
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Ballester LY et al.
Human Mutation, 2006
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 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
Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
Kobori A et al.
Journal of Cardiovascular Electrophysiology, 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
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR et al.
Neurology, 2003
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Tristani-Firouzi M et al.
The Journal of Clinical Investigation, 2002
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM et al.
Cell, 2001