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Article

Uromodulin p.His36Tyr promotes macrophage pyroptosis via App-Cd74 signaling to drive renal inflammation in ADTKD.

Nature communications - 29 Apr 2026

Wu Qian-Qian, Peng Si-Qi, Zhang Yi-Lin, Yang Yan, Shi Wen, Wen Xian-Li, Liu Zhi-Ying, Zhou Xu-Jie, Zheng Ming-Zhu, Hu Li-Dan, Li Xiao-Min, Cao Jing-Yuan, Wang Xin-Lu, Yang Jun-Lan, Wei Jin-Xuan, Shen Jun-Yuan, Wang Xiao-Xu, Liu Bi-Cheng, Zhang Xiao-Liang, Wang Bin

Abstract excerpt

Autosomal dominant tubulointerstitial kidney disease -UMOD is characterized by progressive renal interstitial inflammation and fibrosis. However, its underlying mechanisms remain unclear. Here, we identify a large ADTKD pedigree harboring a novel UMOD p.H36Y mutation. Using CRISPR/Cas9 technology, we generated a UmodH36Y/+ mouse model that recapitulates the key phenotypes observed in affected individuals,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42049740
DOI: 10.1038/s41467-026-72451-3
PMCID: PMC13334015

Genes

UMOD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Uromodulin p.His36Tyr promotes macrophage pyroptosis via App-Cd74 signaling to drive renal inflammation in ADTKD.PMID 42049740Read ↗

Uromodulin p.His36Tyr promotes macrophage pyroptosis via App-Cd74 signaling to drive renal inflammation in ADTKDSemantic proximity Read ↗

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney DiseaseSemantic proximity Read ↗

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.Semantic proximity Read ↗

A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress.Semantic proximity Read ↗

An intermediate effect size variant in <i>UMOD</i> confers risk for chronic kidney diseaseSemantic proximity Read ↗

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.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 ↗

Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic riskSemantic proximity Read ↗

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Calorie restriction leads to degradation of mutant uromodulin and ameliorates inflammation and fibrosis in <i>UMOD</i> -related kidney diseaseSemantic proximity Read ↗

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