Associated Papers
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Mabillard H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023
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
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
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
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
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