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. 2021 Sep 14;38(2):271–282. doi: 10.1093/ndt/gfab268

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© The Author(s) 2021. Published by Oxford University Press on behalf of ERA.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

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Pathophysiology of ADTKD-UMOD and ADTKD-MUC1. (A) Left panel: UMOD expression is restricted to the thick ascending limb and the early DCT. Right panel: Cellular pathways activated by the expression of mutant UMOD (in cellular and murine studies as well as patient biopsies) and its toxic accumulation in the ER. (B) Left panel: Mucin 1 expression along the entire distal tubule. Right panel: Cellular pathways activated by the expression of mutant mucin 1 (in cellular and murine studies as well as patient biopsies) and its toxic accumulation in the ERGIC.