KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
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Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndromeEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10The renal channelopathiesRole of astrocytes in epilepsyMolecular mechanisms of disease-causing missense mutationsCommon variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsiesCalcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndromeNeurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.Genetic causes of hypomagnesemia, a clinical overviewGenetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retinaKCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1).Investigation of the KIR4.1 potassium channel as a putative antigen in patients with multiple sclerosis: a comparative study.Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.Distal convoluted tubuleMolecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.Ablation of Kcnj10 expression in retinal explants revealed pivotal roles for Kcnj10 in the proliferation and development of Müller glia.Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chlorideUnidirectional photoreceptor-to-Müller glia coupling and unique K+ channel expression in Caiman retina.KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjectsGenetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a reviewKCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb.Basolateral membrane K+ channels in renal epithelial cellsStimulation of Ca2+-sensing receptor inhibits the basolateral 50-pS K channels in the thick ascending limb of rat kidney.The role of astroglia in the epileptic brain.Vasopressin-induced stimulation of the Na(+)-activated K(+) channels is responsible for maintaining the basolateral K(+) conductance of the thick ascending limb (TAL) in EAST/SeSAME syndromeCaveolin-1 Deficiency Inhibits the Basolateral K+ Channels in the Distal Convoluted Tubule and Impairs Renal K+ and Mg2+ TransportIon channels in renal disease.The expression, regulation, and function of Kir4.1 (Kcnj10) in the mammalian kidney.Src family protein tyrosine kinase regulates the basolateral K channel in the distal convoluted tubule (DCT) by phosphorylation of KCNJ10 protein.Disruption of KCNJ10 (Kir4.1) stimulates the expression of ENaC in the collecting ductEpilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.Angiotensin II stimulates basolateral 50-pS K channels in the thick ascending limb.The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.Astrocyte dysfunction in temporal lobe epilepsy: K+ channels and gap junction coupling.The molecular basis of blood pressure variation.Alport syndrome--insights from basic and clinical research.
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P2860
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
description
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
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artículu científicu espublizáu en 2010
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im August 2010 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2010/08/10)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/08/10)
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наукова стаття, опублікована в серпні 2010
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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KCNJ10 gene mutations causing ...... athy) disrupt channel function
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P2093
P2860
P3181
P356
P1476
KCNJ10 gene mutations causing ...... athy) disrupt channel function
@en
P2093
Alexander J. Howie
Anselm A. Zdebik
Bruria Ben-Zeev
Christina Sterner
David Penton
Detlef Bockenhauer
Evelyn Lieberer
Ines Tegtmeier
Katharina Schmidt
Markus Rapedius
P2860
P304
14490–14495
P3181
P356
10.1073/PNAS.1003072107
P407
P577
2010-08-10T00:00:00Z