A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical biochemistry"
DOI: 10.1016/j.clinbiochem.2016.10.003
Abstract: BACKGROUND Uromodulin-associated Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD-UMOD) belongs to a group of autosomal dominant inherited diseases caused by mutations in the UMOD gene, which codes for uromodulin, a protein exclusively expressed in renal tubular… read more here.
Keywords: serum uromodulin; family; uromodulin; mutation ... See more keywords
Association of serum uromodulin with adipokines in dependence of type 2 diabetes.
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DOI: 10.1016/j.cyto.2021.155786
Abstract: BACKGROUND The renal tubular glycoprotein uromodulin is associated with obesity and type 2 diabetes, but the underlying mechanisms are elusive. We investigated the association of serum uromodulin with adipokines and tested the effect modification by… read more here.
Keywords: serum uromodulin; type diabetes; uromodulin adipokines; association serum ... See more keywords
Low serum uromodulin levels and their association with lupus flares
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DOI: 10.1371/journal.pone.0276481
Abstract: Background Only two previous studies in systemic lupus erythematosus (SLE) patients have identified that the blood concentrations of uromodulin are lower in nephritis. However, none of them had evaluated whether a low serum uromodulin adjusted… read more here.
Keywords: index; egfr index; serum uromodulin; low serum ... See more keywords
Associations of Serum Uromodulin and Its Genetic Variants With Blood Pressure and Hypertension in Chinese Adults
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DOI: 10.3389/fcvm.2021.710023
Abstract: Background: Uromodulin, also named Tamm Horsfall protein, has been associated with renal function and regulation of sodium homeostasis. We aimed to examine the associations of serum uromodulin levels and its genetic variants with longitudinal blood… read more here.
Keywords: study; serum uromodulin; blood pressure; hypertension ... See more keywords
UMOD Polymorphisms Associated with Kidney Function, Serum Uromodulin and Risk of Mortality among Patients with Chronic Kidney Disease, Results from the C-STRIDE Study
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DOI: 10.3390/genes12111687
Abstract: We aimed to explore associations of several single nucleotide polymorphisms (SNPs) detected by genome-wide association studies in uromodulin (UMOD) gene with phenotypes and prognosis of chronic kidney disease (CKD) among 2731 Chinese patients with CKD… read more here.
Keywords: serum uromodulin; risk; chronic kidney; kidney disease ... See more keywords