Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis - Test2 - elhamkhani - TriplyDB

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

http://www.wikidata.org/entity/Q24295040

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Channelopathies Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Genetic variation and the de novo assembly of human genomes Mechanism of thyrotoxic periodic paralysis Hyperthyroidism Channelopathies of skeletal muscle excitability The function and molecular identity of inward rectifier channels in vestibular hair cells of the mouse inner ear Discovery, characterization, and structure-activity relationships of an inhibitor of inward rectifier potassium (Kir) channels with preference for Kir2.3, Kir3.x, and Kir7.1.Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.Thyrotoxic periodic paralysis: a case study and review of the literature.Comparison of the effects of DC031050, a class III antiarrhythmic agent, on hERG channel and three neuronal potassium channels.Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis.Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.Single haplotype assembly of the human genome from a hydatidiform mole Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.The Release 6 reference sequence of the Drosophila melanogaster genome.Phosphoinositides regulate ion channels.The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.Experimental Mapping of the Canine KCNJ2 and KCNJ12 Gene Structures and Functional Analysis of the Canine K(IR)2.2 ion Channel A 20-year-old Chinese man with recurrent hypokalemic periodic paralysis and delayed diagnosis Pathophysiological role of omega pore current in channelopathies Thyrotoxic Periodic Paralysis: Case Reports and an Up-to-Date Review of the Literature.Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.Hypokalemic periodic paralysis as first sign of thyrotoxicosis.Using population admixture to help complete maps of the human genome.A 10-year analysis of thyrotoxic periodic paralysis in 135 patients: focus on symptomatology and precipitants.Thyrotoxic periodic paralysis: clinical challenges.The past, present, and future of human centromere genomics.Thyrotoxic hypokalaemic periodic paralysis: a rare presentation of Graves' disease in a Hispanic patient.Neurological channelopathies: new insights into disease mechanisms and ion channel function.Channelopathies linked to plasma membrane phosphoinositides.Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights.Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.Novel insights into the pathomechanisms of skeletal muscle channelopathies.Thyrotoxic periodic paralysis: clinical and molecular aspects.Regulation of ion channels by membrane lipids.Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses.

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P2860

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

http://www.wikidata.org/entity/Q24295040

description

2010 nî lūn-bûn

@nan

2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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J.CELL.2009.12.024

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Mutations in potassium channel ...... hypokalemic periodic paralysis

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Annie W C Kung

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Bertrand Fontaine

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Daphne H C Khoo

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Harold S Bernstein

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Jin Seng Cheah

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Louis J Ptácek

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Magnus R Dias da Silva

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Matt R Donaldson

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Robert H Brown

http://www.w3.org/2001/XMLSchema#string

Su Chin Ho

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P2860

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

Cloning and functional expression of an inwardly rectifying K+ channel from human atrium

Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.

Thyroxine signal transduction in liver cells involves phospholipase C and phospholipase D activation. Genomic independent action of thyroid hormone

Channelopathies of inwardly rectifying potassium channels

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

A multiprotein trafficking complex composed of SAP97, CASK, Veli, and Mint1 is associated with inward rectifier Kir2 potassium channels

Protein trafficking and anchoring complexes revealed by proteomic analysis of inward rectifier potassium channel (Kir2.x)-associated proteins

The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1

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1

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140

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Mui Cheng Liang

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41027573

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20074522

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Potassium inwardly rectifying channel subfamily J member 18

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