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Article

Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jun 2002

De Jong Joke C, Van Der Vliet Walter A, Van Den Heuvel Lambertus P W J, Willems Peter H G M, Knoers Nine V A M, Bindels René J M

Abstract excerpt

Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder results from mutations in the thiazide-sensitive NaCl cotransporter (NCC). To elucidate the functional implications of mutations associated with this disorder, metolazone-sensitive (22)Na(+) uptake, subcellular localization, and...

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Identifiers

PMID: 12039972
DOI: 10.1097/01.asn.0000017904.77985.03

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome.PMID 12039972Read ↗

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.Semantic proximity Read ↗

The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer.Semantic proximity Read ↗

Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome.Semantic proximity Read ↗

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.Semantic proximity Read ↗

The genetic spectrum of Gitelman(-like) syndromesSemantic proximity Read ↗

N-Glycosylation at two sites critically alters thiazide binding and activity of the rat thiazide-sensitive Na(+):Cl(-) cotransporter.Semantic proximity Read ↗

Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.Semantic proximity Read ↗

Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.Semantic proximity Read ↗

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Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.Semantic proximity Read ↗

Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule.Semantic proximity Read ↗

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.Semantic proximity Read ↗

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