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
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
First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD.
Malakoutian T et al.
Journal of Molecular and Genetic Medicine : an International Journal of Biomedical Research, 2016
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
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
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
Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.
Yang H et al.
Febs Letters, 2004
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.
Kudo E et al.
Kidney International, 2004
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
Rampoldi L et al.
Human Molecular Genetics, 2003
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
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
Hart TC et al.
Journal of Medical Genetics, 2002