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
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis
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DOI: 10.1038/s41598-019-48300-3
Abstract: Uromodulin is a zona pellucida-type protein essentially produced in the thick ascending limb (TAL) of the mammalian kidney. It is the most abundant protein in normal urine. Defective uromodulin processing is associated with various kidney… read more here.
Keywords: salt; hepsin; uromodulin; thick ascending ... See more keywords