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Article

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

The American journal of physiology - 1 Oct 1999

Kunchaparty S, Palcso M, Berkman J, Velázquez H, Desir G V, Bernstein P, Reilly R F, Ellison D H

Abstract excerpt

Gitelman's syndrome is an autosomal recessive disorder of salt wasting and hypokalemia caused by mutations in the thiazide-sensitive Na-Cl cotransporter. To investigate the pathogenesis of Gitelman's syndrome, eight disease mutations were introduced into the mouse thiazide-sensitive Na-Cl cotransporter and studied by functional expression in Xenopus oocytes. Sodium uptake into oocytes that expressed the wild-type...

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Identifiers

PMID: 10516289
DOI: 10.1152/ajprenal.1999.277.4.F643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome.PMID 10516289Read ↗

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

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

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

Functional confirmation of Gitelman's syndrome mutations in Japanese.Semantic proximity Read ↗

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

Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's SyndromeSemantic proximity Read ↗

NORMOMAGNESEMIC GITELMAN SYNDROME PATIENTS EXHIBIT A STRONGER REACTION TO THIAZIDE THAN HYPOMAGNESEMIC PATIENTS.Semantic proximity Read ↗

Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.Semantic proximity Read ↗

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