Associated Papers
Alternative splicing of uromodulin enhances mitochondrial metabolism for adaptation to stress in kidney epithelial cells.
Nanamatsu A et al.
The Journal of Clinical Investigation, 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
Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.
Kim Y et al.
American Journal of Physiology. Renal Physiology, 2021
Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.
Park SJ et al.
Pediatric Nephrology (berlin, Germany), 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 p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis.
Johnson BG et al.
The Journal of Clinical Investigation, 2017
Uromodulin: from physiology to rare and complex kidney disorders.
Devuyst O et al.
Nature Reviews. Nephrology, 2017
Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.
Trudu M et al.
Scientific Reports, 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
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
Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.
Kemter E et al.
Human Molecular Genetics, 2013
Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice.
Kemter E et al.
Plos One, 2013
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
Schaeffer C et al.
Kidney International, 2012
Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene.
Yasuda M et al.
Nucleosides, Nucleotides & Nucleic Acids, 2011
Enhancement of androgen action in the kidneys of transgenic mice harboring the mutant human UMOD gene.
Takiue Y et al.
Journal of Pharmacological Sciences, 2011
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.
Bernascone I et al.
Human Molecular Genetics, 2010
Development of LC-MS method for detection of mutant uromodulin protein.
Yasuda M et al.
Nucleosides, Nucleotides & Nucleic Acids, 2010
Uromodulin biology and pathophysiology--an update.
Vyletal P et al.
Kidney & Blood Pressure Research, 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
Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.
Takiue Y et al.
Biological & Pharmaceutical Bulletin, 2008
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