Associated Papers
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
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
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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