Articles with "direct consequence" as a keyword



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Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24021313

Abstract: Dent disease (DD1) is a rare tubulopathy caused by mutations in the CLCN5 gene. Glomerulosclerosis was recently reported in DD1 patients and ClC-5 protein was shown to be expressed in human podocytes. Nephrin and actin… read more here.

Keywords: dent disease; glomerular damage; clc; rare tubulopathy ... See more keywords