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. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: Am J Med Genet A. 2020 Mar 5;182(5):1104–1116. doi: 10.1002/ajmg.a.61531

Figure 2. The EDNRA p.Q381P variant cannot induce EDNRA-dependent gene expression.

Figure 2.

qRT-PCR analysis of Dlx5 (A) and Dlx2 (B) gene expression in MC3T3-E1 cells following transfection with empty vector (mock), EDNRA or EDNRA p.Q381P and treatment with EDN1. (a) While addition of EDN1 resulted in upregulation of Dlx5 expression in cells with wild type EDNRA, Dlx5 expression was not induced in cells with the EDNRA p.Q381P variant. (b) Addition of EDN1 resulted in downregulation of Dlx2 expression in cells with a wild type EDNRA but not in cells with the EDNRA p.Q381P variant (B). Assays were performed in duplicate or triplicate at least three times. Error bars represent SEM; two-tailed t-test; *p<0.05, **p< 0.005, ***p<0.001; ns., not significant.