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Article

Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.

Journal of the American Society of Nephrology : JASN - 1 Jan 2007

Jennings Paul, Aydin Sonia, Kotanko Peter, Lechner Judith, Lhotta Karl, Williams Sian, Thakker Rajesh V, Pfaller Walter

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant genetic disorder that is characterized by hyperuricemia, gout, and tubulointerstitial nephritis. FJHN is caused by mutations in the UMOD gene, which encodes for uromodulin, the most abundant urinary protein. Herein is demonstrated that patients with FJHN and renal insufficiency exhibit a profound reduction in urinary uromodulin together...

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Source

Identifiers

PMID: 17151335
DOI: 10.1681/ASN.2006020158

Genes

UMOD

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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Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.PMID 17151335Read ↗

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