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Article

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.

The Journal of clinical investigation - 1 Apr 2006

Kausalya P Jaya, Amasheh Salah, Günzel Dorothee, Wurps Henrik, Müller Dominik, Fromm Michael, Hunziker Walter

Abstract excerpt

Claudin-16 (Cldn16) is selectively expressed at tight junctions (TJs) of renal epithelial cells of the thick ascending limb of Henle's loop, where it plays a central role in the reabsorption of divalent cations. Over 20 different mutations in the CLDN16 gene have been identified in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a disease of excessive renal Mg2+ and Ca2+...

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Source

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Identifiers

PMID: 16528408
DOI: 10.1172/JCI26323
PMCID: PMC1395478

Genes

CLDN16

Provenance

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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Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16.PMID 16528408Read ↗

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