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Article

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

Pediatric nephrology (Berlin, Germany) - 1 Jan 2009

Wolf Matthias T F, Hoskins Bethan E, Beck Bodo B, Hoppe Bernd, Tasic Velibor, Otto Edgar A, Hildebrandt Friedhelm

Abstract excerpt

Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD). UMOD transcription is activated by the transcription factor HNF1B. Mutations in HNF1B cause a phenotype similar to FJHN/GCKD but also congenital anomalies of the kidney and the urinary tract (CAKUT). Moreover, we...

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Source

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Identifiers

PMID: 18846391
DOI: 10.1007/s00467-008-1016-6
PMCID: PMC3155267

Genes

UMOD
CEL

Provenance

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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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).PMID 18846391Read ↗

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