Associated Papers
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.
Bleyer AJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
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
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
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
Defective intracellular trafficking of uromodulin mutant isoforms.
Bernascone I et al.
Traffic (copenhagen, Denmark), 2006
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Wolf MT et al.
Kidney International, 2003
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