Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations - Test2 - elhamkhani - TriplyDB

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

http://www.wikidata.org/entity/Q24631051

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome Channelopathies NT5E mutations and arterial calcifications EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Potassium Channels and Human Epileptic Phenotypes: An Updated Overview New Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia Signaling Neuronal and Cardiovascular Potassium Channels as Therapeutic Drug Targets: Promise and Pitfalls The renal channelopathies Blood-brain barrier dysfunction, TGFβ signaling, and astrocyte dysfunction in epilepsy Role of astrocytes in epilepsy Channelopathy pathogenesis in autism spectrum disorders Myelinating satellite oligodendrocytes are integrated in a glial syncytium constraining neuronal high-frequency activity Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.KIR4.1: K+ Channel Illusion or Reality in the Autoimmune Pathogenesis of Multiple Sclerosis The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation Potassium channel KIR4.1 as an immune target in multiple sclerosis Major channels involved in neuropsychiatric disorders and therapeutic perspectives KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function Inwardly rectifying potassium channel Kir4.1 is responsible for the native inward potassium conductance of satellite glial cells in sensory ganglia Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1 Emerging Targets of Diuretic Therapy.Potassium ion movement in the inner ear: insights from genetic disease and mouse models The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.Gestational and early postnatal hypothyroidism alters VGluT1 and VGAT bouton distribution in the neocortex and hippocampus, and behavior in rats.Development and validation of fluorescence-based and automated patch clamp-based functional assays for the inward rectifier potassium channel Kir4.1.K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).Small-molecule modulators of inward rectifier K+ channels: recent advances and future possibilities.Genetic causes of hypomagnesemia, a clinical overview Hypomagnesemia: a clinical perspective.Genetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retina Cardiac and renal inward rectifier potassium channel pharmacology: emerging tools for integrative physiology and therapeutics.KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1).

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

http://www.wikidata.org/entity/Q24631051

description

2009 nî lūn-bûn

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2009 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2009 թվականի մայիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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The New England Journal of Medicine

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

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Angus Dobbie

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Anselm A Zdebik

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Christina Sterner

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Detlef Bockenhauer

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Dirk Heitzmann

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Enriko Klootwijk

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Evelyn Lieberer

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Guida Landoure

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Horia C Stanescu

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J Helen Cross

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The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Salt wasting and deafness resulting from mutations in two chloride channels

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

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1960-70

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scholarly article

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287269

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10.1056/NEJMOA0810276

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19

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360

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Eamonn Sheridan

Mauricio Arcos-Burgos

Dorothy Thompson

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2009-05-07T00:00:00Z

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19420365

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3398803

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