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Article

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

The Journal of clinical endocrinology and metabolism - 1 Mar 2003

Turner J J O, Stacey J M, Harding B, Kotanko P, Lhotta K, Puig J G, Roberts I, Torres R J, Thakker R V

Abstract excerpt

Gout, which is commonly associated with hyperuricemia, affects 0.2% of the population. Hyperuricemia has a heterogeneous etiology that may be due to either over production and/or reduced renal clearance, of urate. In order to identify the mechanisms underlying reduced excretion of urate, we under...

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Source

Identifiers

PMID: 12629136
DOI: 10.1210/jc.2002-021973

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12629136-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.PMID 12629136Read ↗

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A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.Semantic proximity Read ↗

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.Semantic proximity Read ↗

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

Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.Semantic proximity Read ↗

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

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