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Article

A Uromodulin Mutation Drives Autoimmunity and Kidney Mononuclear Phagocyte Endoplasmic Reticulum Stress.

The American journal of pathology - 1 Dec 2020

Plotkin Matthew, O'Brien Charles A, Goellner Joseph, Williams Joshua, Carter Weleetka, Sharma Shree, Stone Annjanette

Abstract excerpt

We identified a family with a UMOD gene mutation (C106F) resulting in glomerular inflammation and complement deposition. To determine if the observed phenotype is due to immune system activation by mutant uromodulin, a mouse strain with a homologous cysteine to phenylalanine mutation (C105F) in the UMOD gene was generated using CRISPR-Cas9 gene editing and the effect of this mutation on mononuclear phagocytic...

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Identifiers

PMID: 32926855
DOI: 10.1016/j.ajpath.2020.08.015
PMCID: PMC7722528

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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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