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
Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Moreno-Manuel AI et al.
Cardiovascular Research, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation.
Deeb R et al.
Neurology. 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
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
Phenotype variability in patients carrying KCNJ2 mutations.
Kimura H et al.
Circulation. Cardiovascular Genetics, 2012
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
Lack of any cardiac involvement in a patient with Andersen-Tawil syndrome associated with the c.574A→G mutation in KCNJ2.
Modoni A et al.
Cardiology, 2011
Kir 2.1 channelopathies: the Andersen-Tawil syndrome.
Tristani-Firouzi M et al.
Pflugers Archiv : European Journal of Physiology, 2010
Cardiac surgery for a patient with Andersen-Tawil syndrome.
Nagashima M et al.
The Annals of Thoracic Surgery, 2010
A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome.
Chan HF et al.
Journal of Human Genetics, 2010
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL et al.
Human Mutation, 2009
Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation.
Nagase S et al.
Heart Rhythm, 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
[Surgical treatment for the patient with atrial septal defect and Andersen syndrome].
Seike Y et al.
Kyobu Geka. the Japanese Journal of Thoracic Surgery, 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
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
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR et al.
Neurology, 2003
Dominant-negative suppression of I(K1) in the mouse heart leads to altered cardiac excitability.
McLerie M et al.
Journal of Molecular and Cellular Cardiology, 2003
Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome.
Hosaka Y et al.
Journal of Molecular and Cellular Cardiology, 2003
Inherited arrhythmic disorders in Japan.
Hiraoka M
Journal of Cardiovascular Electrophysiology, 2003
Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia.
Ai T et al.
Circulation, 2002
[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