Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
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
TMED9 coordinates the clearance of misfolded GPI-anchored proteins out of the ER and into the Golgi.
Ronzier E et al.
Plos Biology, 2025
TMED9 coordinates the clearance of misfolded GPI-anchored proteins out of the endoplasmic reticulum and into the Golgi.
Ronzier E et al.
Biorxiv : the Preprint Server for Biology, 2025
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
Bazua-Valenti S et al.
The Journal of Clinical Investigation, 2024
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G et al.
Embo Molecular Medicine, 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
Chemical Strike against a Dominant-Inherited MUC1-Frameshifted Protein Associated with Progressive Kidney Disease.
Thomas G et al.
Trends in Molecular Medicine, 2019
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
A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.
Piret SE et al.
Disease Models & Mechanisms, 2017
Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia.
Ma L et al.
Plos One, 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
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
A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.
Iguchi A et al.
Cen Case Reports, 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
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
Epidemiology of uromodulin-associated kidney disease - results from a nation-wide survey.
Lhotta K et al.
Nephron Extra, 2012
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
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
Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.
Jennings P et al.
Journal of the American Society of Nephrology : Jasn, 2007
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Vylet'al P et al.
Kidney International, 2006
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
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