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
Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.
Cormican S et al.
Renal Failure, 2019
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Lata S et al.
Annals of Internal Medicine, 2018
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
Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).
Kemter E et al.
Scientific Reports, 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
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.
Kemter E et al.
Human Molecular Genetics, 2013
Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.
Kemter E et al.
Plos One, 2013
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
Zaucke F et al.
Human Molecular Genetics, 2010
Select a paper to view details