Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
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
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A novel combination of OHVIRA syndrome and likely causal variant in UMOD gene.
Samanta A et al.
Cen Case Reports, 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
Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.
Bleyer AJ et al.
Pediatric Nephrology (berlin, Germany), 2022
Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.
Takemasa Y et al.
Cen Case Reports, 2021
Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.
Gong K et al.
Scientific Reports, 2021
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
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Yang J et al.
Bmc Pediatrics, 2019
A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.
Lin Z et al.
Renal Failure, 2018
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Hints to the diagnosis of uromodulin kidney disease.
Onoe T et al.
Clinical Kidney Journal, 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
Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking.
Liu M et al.
Gene, 2013
Association between genotype and phenotype in uromodulin-associated kidney disease.
Moskowitz JL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Genetics of congenital anomalies of the kidney and urinary tract.
Song R et al.
Pediatric Nephrology (berlin, Germany), 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
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
Wolf MT et al.
Kidney International, 2007
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Wolf MT et al.
Kidney International, 2003