Associated Papers
Mutations in UMOD Contribute to the Pathogenesis of ADTKD-UMOD by Influencing the Function of Complement Factor H.
Xie Q et al.
Journal of Cellular and Molecular Medicine, 2026
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
35947615 (PubMed )
Supplement: pnas.2114734119.sapp.pdf
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.
Gong K et al.
Scientific Reports, 2021
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Yang J et al.
Bmc Pediatrics, 2019
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.
Lin Z et al.
Renal Failure, 2018
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.
Liu M et al.
Gene, 2013
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