Associated Papers
A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
Valluru MK et al.
Journal of Medical Genetics, 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
Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response.
Schaeffer C et al.
Plos One, 2017
Pathogenic uromodulin mutations result in premature intracellular polymerization.
Stewart AP et al.
Febs Letters, 2015
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 upregulates TRPV5 by impairing caveolin-mediated endocytosis.
Wolf MT et al.
Kidney International, 2013
Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.
Köttgen A et al.
Plos One, 2012
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.
Smith GD et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
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 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
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
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Rampoldi L et al.
Human Molecular Genetics, 2003