Associated Papers
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G et al.
Embo Molecular Medicine, 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
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
Association between genotype and phenotype in uromodulin-associated kidney disease.
Moskowitz JL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
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
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function.
Renigunta A et al.
The Journal of Biological Chemistry, 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
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
Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
Tinschert S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
Dahan K et al.
Journal of the American Society of Nephrology : Jasn, 2003