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Article

Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.

Biological & pharmaceutical bulletin - 1 Mar 2008

Takiue Yuichi, Hosoyamada Makoto, Yokoo Takuya, Kimura Masaki, Shibasaki Toshiaki

Abstract excerpt

Familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease type 2 (MCKD2) are autosomal dominant disorders characterized by juvenile hyperuricemia of the underexcretion type, juvenile gout and chronic renal failure in the adult. FJHN/MCKD2 constitute diseases caused by mutations of the human uromodulin (UMOD) gene that encodes uromodulin, the most abundant glycoprotein in normal human...

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Source

Identifiers

PMID: 18310901
DOI: 10.1248/bpb.31.405

Genes

UMOD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.PMID 18310901Read ↗

Production and characterization of transgenic mice harboring mutant human UMOD gene.Semantic proximity Read ↗

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A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failureSemantic proximity Read ↗

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

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.Semantic proximity Read ↗

Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.Semantic proximity Read ↗

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.Semantic proximity Read ↗

Enhancement of androgen action in the kidneys of transgenic mice harboring the mutant human UMOD gene.Semantic proximity Read ↗

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.Semantic proximity Read ↗

Defective Intracellular Trafficking of Uromodulin Mutant IsoformsSemantic proximity Read ↗

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

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

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