Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
نویسندگان
چکیده
منابع مشابه
Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD (ADTKD-UMOD)
'Autosomal dominant tubulointerstitial kidney disease - UMOD' (ADTKD-UMOD) is caused by impaired maturation and secretion of mutant uromodulin (UMOD) in thick ascending limb of Henle loop (TAL) cells, resulting in endoplasmic reticulum (ER) stress and unfolded protein response (UPR). To gain insight into pathophysiology, we analysed proteome profiles of TAL-enriched outer renal medulla samples ...
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ژورنال
عنوان ژورنال: Clinical Journal of the American Society of Nephrology
سال: 2011
ISSN: 1555-9041,1555-905X
DOI: 10.2215/cjn.01220211