Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia

Hereditary mutations in Tamm-Horsfall protein (THP/uromodulin) gene cause autosomal dominant kidney diseases characterized by juvenile-onset hyperuricemia, gout and progressive kidney failure, although the disease pathogenesis remains unclear. Here we show that targeted expression in transgenic mice...

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Udgivet i:PLoS One
Main Authors: Ma, Lijie, Liu, Yan, Landry, Nichole K., El-Achkar, Tarek M., Lieske, John C., Wu, Xue-Ru
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5690637/
https://ncbi.nlm.nih.gov/pubmed/29145399
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0186769
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