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Article

High-frequency variant p.T60M in NaCl cotransporter and blood pressure variability in Han Chinese.

American journal of nephrology - 1 Jan 2012

Shao Leping, Lang Yanhua, Wang Yan, Gao Yanxia, Zhang Wei, Niu Haitao, Liu Shiguo, Chen Nan

Abstract excerpt

OBJECTIVE: Frequent studies have confirmed that homozygous or compound heterozygous loss-of-function mutation p.Thr60Met in NaCl cotransporter (NCC) lead to the salt-wasting Gitelman's syndrome (GS) of hypotension. The finding that Thr60 is a key SPAK/OSR1 phosphorylation site on NCC also raises the possible importance of Thr60 in regulating the activity of NCC and blood pressure (BP). However, the association of...

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Source

Identifiers

PMID: 22627394
DOI: 10.1159/000339165

Genes

OSR1

Variants

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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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