Associated Papers
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) in Chinese Patients.
Li MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G et al.
Embo Molecular Medicine, 2023
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
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
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
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.
Liu M et al.
Gene, 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
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
Defective intracellular trafficking of uromodulin mutant isoforms.
Bernascone I et al.
Traffic (copenhagen, Denmark), 2006
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Vylet'al P et al.
Kidney International, 2006
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