Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
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Treatment for periodic paralysisMuscle channelopathies and critical points in functional and genetic studies.Molecular and genetic basis of sudden cardiac deathProtein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesisEndogenous voltage gradients as mediators of cell-cell communication: strategies for investigating bioelectrical signals during pattern formationCrystal structure of a Kir3.1-prokaryotic Kir channel chimeraGolgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structureModeling tissue- and mutation- specific electrophysiological effects in the long QT syndrome: role of the Purkinje fiberEngineering biosynthetic excitable tissues from unexcitable cells for electrophysiological and cell therapy studies.Case-control analysis of SNPs in GLUT4, RBP4 and STRA6: association of SNPs in STRA6 with type 2 diabetes in a South Indian populationEmerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.Molecular bioelectricity: how endogenous voltage potentials control cell behavior and instruct pattern regulation in vivo.Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicryManagement and treatment of Andersen-Tawil syndrome (ATS).Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channelsEndogenous Voltage Potentials and the Microenvironment: Bioelectric Signals that Reveal, Induce and Normalize Cancer.Potential use of potassium efflux-deficient yeast for studying trafficking signals and potassium channel functions.Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a reviewCharacterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.Phosphoinositide control of membrane protein function: a frontier led by studies on ion channels.Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.An inwardly rectifying K+ channel is required for patterningThe primary periodic paralyses: diagnosis, pathogenesis and treatment.Exploring Instructive Physiological Signaling with the Bioelectric Tissue Simulation Engine.Reprogramming cells and tissue patterning via bioelectrical pathways: molecular mechanisms and biomedical opportunitiesMolecular bioelectricity in developmental biology: new tools and recent discoveries: control of cell behavior and pattern formation by transmembrane potential gradients.Activity-dependent callosal axon projections in neonatal mouse cerebral cortex.Endogenous bioelectrical networks store non-genetic patterning information during development and regeneration.Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?Molecular Pathophysiology of Congenital Long QT Syndrome.Regulation of Kir2.1 channels by the Rho-GTPase, Rac1Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway.A digital atlas of ion channel expression patterns in the two-week-old rat brain.In vivo and in vitro functional characterization of Andersen's syndrome mutations.Long QT syndrome: from channels to cardiac arrhythmias.Inhibiting the clathrin-mediated endocytosis pathway rescues K(IR)2.1 downregulation by pentamidine.Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.
P2860
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P2860
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
@en
type
label
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
@en
prefLabel
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
@en
P2093
P2860
P356
P1476
Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.
@en
P2093
Louis J Ptácek
Martin Tristani-Firouzi
Matthew R Donaldson
Nikki M Plaster
Saïd Bendahhou
Ying-Hui Fu
P2860
P304
51779-51785
P356
10.1074/JBC.M310278200
P407
P577
2003-10-01T00:00:00Z