Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
about
Nedd4-2 and the regulation of epithelial sodium transportCloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene familyWNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasisA missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemiaMutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type IIIThe WNK-regulated SPAK/OSR1 kinases directly phosphorylate and inhibit the K+-Cl- co-transportersLarge-scale proteomics and phosphoproteomics of urinary exosomesMislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndromeA new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertensionHereditary isolated renal magnesium loss maps to chromosome 11q23.Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4The thiazide-sensitive Na+-Cl- cotransporter: molecular biology, functional properties, and regulation by WNKsRare independent mutations in renal salt handling genes contribute to blood pressure variationEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsSalt handling and hypertensionWNK3 and WNK4 amino-terminal domain defines their effect on the renal Na+-Cl- cotransporterWNK kinases, renal ion transport and hypertensionWNK4 enhances the degradation of NCC through a sortilin-mediated lysosomal pathwayEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10Ubiquitylation and control of renal Na+ balance and blood pressurePhysiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockoutsThe role of transforming growth factor β1 in the regulation of blood pressureSLC transporters as therapeutic targets: emerging opportunitiesBartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotypeInsights into the molecular nature of magnesium homeostasisA deep intronic mutation in the SLC12A3 gene leads to Gitelman syndromePathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman diseaseThe Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletionNovel SLC12A3 mutations in Chinese patients with Gitelman's syndromeDefective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndromeAffinity-defining domains in the Na-Cl cotransporter: a different location for Cl- and thiazide bindingInteraction with grp58 increases activity of the thiazide-sensitive Na-Cl cotransporterWNK kinases regulate thiazide-sensitive Na-Cl cotransportA SPAK isoform switch modulates renal salt transport and blood pressureGenome-wide association study identifies eight loci associated with blood pressureFrom the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.Emerging Targets of Diuretic Therapy.Molecular pathophysiology of Bartter's and Gitelman's syndromes.Pharmacogenomics of diuretic drugs: data on rare monogenic disorders and on polymorphisms and requirements for further research.
P2860
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P2860
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@ast
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en-gb
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@nl
type
label
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@ast
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en-gb
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@nl
prefLabel
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@ast
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en-gb
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Gitelman's variant of Bartter' ...... -sensitive Na-Cl cotransporter
@en
P2093
Cushner HM
Gitleman HJ
Nelson-Williams C
P2860
P2888
P3181
P356
10.1038/NG0196-24
P407
P577
1996-01-01T00:00:00Z
P5875
P6179
1031628595