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Article

Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport.

Journal of the American Society of Nephrology : JASN - 1 May 1998

Abuladze N, Yanagawa N, Lee I, Jo O D, Newman D, Hwang J, Uyemura K, Pushkin A, Modlin R L, Kurtz I

Abstract excerpt

Genetic analysis has demonstrated complete linkage between the human thiazide-sensitive sodium chloride cotransporter gene (NCCT or TSC) and Gitelman's syndrome (GS). Several genomic NCCT mutations have been reported. This study was performed to determine whether peripheral blood mononuclear cells (PBMC) express NCCT mRNA and whether defective PBMC NaCl cotransport could be demonstrated in GS. PBMC were isolated...

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Identifiers

PMID: 9596079
DOI: 10.1681/ASN.V95819

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport.PMID 9596079Read ↗

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Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.Semantic proximity Read ↗

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome.Semantic proximity Read ↗

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

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.Semantic proximity Read ↗

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

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