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
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K et al.
Kidney International Reports, 2020
32954071 (PubMed )
Supplement: mmc1.pdf
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
Edwards N et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
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
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 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
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.
Kudo E et al.
Kidney International, 2004
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