Associated Papers
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G et al.
Embo Molecular Medicine, 2023
37885358 (PubMed )
Supplement: EMMM-15-e18242-s003.zip › Figure_1 › 1A › ADTKD-UMOD_age_at_kidney_failure.xlsx › Sheet1
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
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.
Cañadas-Garre M et al.
Frontiers in Genetics, 2019
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.
Kuma A et al.
Internal Medicine (tokyo, Japan), 2015
A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.
Iguchi A et al.
Cen Case Reports, 2013
Association between genotype and phenotype in uromodulin-associated kidney disease.
Moskowitz JL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones.
Ma L et al.
The Journal of Biological Chemistry, 2012
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.
Lhotta K et al.
Nephron Extra, 2012
Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.
Bollée G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
Zaucke F et al.
Human Molecular Genetics, 2010
Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
Williams SE et al.
Human Molecular Genetics, 2009
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