Associated Papers
Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications.
Sánchez-Cazorla E et al.
Nefrologia, 2025
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
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
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
Fenofibrate increases serum creatinine in a patient with familial nephropathy associated to hyperuricemia.
Salgueiro G et al.
Nucleosides, Nucleotides & Nucleic Acids, 2014
Association between genotype and phenotype in uromodulin-associated kidney disease.
Moskowitz JL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
[Familial juvenile hyperuricemic nephropathy].
Hummel A
Nephrologie & Therapeutique, 2012
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
[Preclinical diagnosis of the familial nephropathy associated to hyperuricemia].
Torres R et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2006
Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation.
Puig JG et al.
Nucleosides, Nucleotides & Nucleic Acids, 2006
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.
Rezende-Lima W et al.
Kidney International, 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
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner JJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2003