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Article

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Dec 2004

Tinschert Sigrid, Ruf Nico, Bernascone Ilenia, Sacherer Kai, Lamorte Giuseppe, Neumayer Hans-Hellmut, Nürnberg Peter, Luft Friedrich C, Rampoldi Luca

Abstract excerpt

BACKGROUND: Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal-dominant disorder featuring hyperuricaemia, low fractional urate excretion, interstitial nephritis and chronic renal failure. The responsible gene UMOD was recently identified. UMOD encodes for uromodulin or Tamm-Hors...

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Identifiers

PMID: 15575003
DOI: 10.1093/ndt/gfh524

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15575003-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.PMID 15575003Read ↗

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulumSemantic proximity Read ↗

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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

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Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not.Semantic proximity Read ↗

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