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. 2023 Oct 13;17(1):sfad260. doi: 10.1093/ckj/sfad260

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© The Author(s) 2023. Published by Oxford University Press on behalf of the ERA.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 4: — CYP51A1 plays a role in SHH signaling and is expressed in the developing kidney. (A) CYP51A1 gene structure and location of the c.770+1G>A splice site variant (NM_000786.3). (B) Involvement of EYA1 and CYP51A1 in SHH signaling. GLI is activated into GLIA by Smoothened (SMO) which is suppressed by Patched (PTCH1). PTCH1 is removed by SHH which in turn is regulated by CYP51A1 [11]. Together with the cofactor SIX1, EYA1 enhances GLI activity [18]. This figure was created with BioRender.com. (C, D) Expression of CYP51A1 (C) and EYA1 (D) throughout nephron development based on single-cell RNA sequencing data from 14 weeks old human kidneys [17].