Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
about
Cloning 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 homeostasisMutations 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 exosomesHereditary isolated renal magnesium loss maps to chromosome 11q23.Rare independent mutations in renal salt handling genes contribute to blood pressure variationEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsSalt handling and hypertensionEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10Molecular regulation of NKCC2 in the thick ascending limbPhysiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockoutsSLC transporters as therapeutic targets: emerging opportunitiesThe role of claudin in hypercalciuric nephrolithiasisBartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.Molecular and evolutionary insights into the structural organization of cation chloride cotransportersEmbryonic epithelial membrane transportersMolecular cloning and functional characterization of KCC3, a new K-Cl cotransporterFunctional properties of the apical Na+-K+-2Cl- cotransporter isoformsPathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman diseaseThick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSRPhenotype-genotype correlation in antenatal and neonatal variants of Bartter syndromeDifferential regulation of NFAT5 by NKCC2 isoforms in medullary thick ascending limb (mTAL) cellsDefective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndromeGenetics of type III Bartter syndrome in Spain, proposed diagnostic algorithmActivity of the renal Na+-K+-2Cl- cotransporter is reduced by mutagenesis of N-glycosylation sites: role for protein surface charge in Cl- transportEffects of dietary salt on renal Na+ transporter subcellular distribution, abundance, and phosphorylation statusAbsence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout miceSodium-potassium-adenosinetriphosphatase-dependent sodium transport in the kidney: hormonal controlFrom the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.Uncompensated polyuria in a mouse model of Bartter's syndromeNeonatal Bartter syndrome associated with ileal atresia and cystic fibrosisMolecular pathophysiology of Bartter's and Gitelman's syndromes.Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice.Pharmacogenomics of diuretic drugs: data on rare monogenic disorders and on polymorphisms and requirements for further research.Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretionA hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.A panoramic view of gene expression in the human kidneyInvolvement of Golgin-160 in cell surface transport of renal ROMK channel: co-expression of Golgin-160 increases ROMK currents.Organization of the pronephric kidney revealed by large-scale gene expression mapping.
P2860
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P2860
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին 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
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@ast
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en-gb
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@nl
type
label
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@ast
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en-gb
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@nl
prefLabel
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@ast
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en-gb
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@nl
P2093
P3181
P356
P1433
P1476
Bartter's syndrome, hypokalaem ...... e Na-K-2Cl cotransporter NKCC2
@en
P2093
P2888
P304
P3181
P356
10.1038/NG0696-183
P407
P577
1996-06-01T00:00:00Z
P6179
1006663248