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Article

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

Scientific reports - 7 Aug 2017

Trudu Matteo, Schaeffer Celine, Riba Michela, Ikehata Masami, Brambilla Paola, Messa Piergiorgio, Martinelli-Boneschi Filippo, Rastaldi Maria Pia, Rampoldi Luca

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an inherited disorder that causes progressive kidney damage and renal failure. Mutations in the UMOD gene, encoding uromodulin, lead to ADTKD-UMOD related. Uromodulin is a GPI-anchored protein exclusively produced by epithelial cells of the thick ascending limb of Henle's loop. It is released in the tubular lumen after proteolytic cleavage and...

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Identifiers

PMID: 28785050
DOI: 10.1038/s41598-017-07804-6
PMCID: PMC5547146

Genes

UMOD
GPI

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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Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.PMID 28785050Read ↗

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