Fig. 4: Expression of MYH3 and proteins in TGF-β/BMP signaling pathway (SMAD3 and phosphorylated SMAD3) in cells transfected with wild-type (WT) and mutant MYH3 plasmid.
From: Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
a Western blot results of MYH3 expression and proteins in TGF-β/BMP signaling pathway in HEK 293T cells transfected with empty plasmid, WT and mutant MYH3 plasmid. b Quantification of the MYH3 protein. c–f Quantification of TGF-β/BMP signaling pathways alterations on protein expression levels pERK1/2, p-p38, p-SMAD3, and SMAD3. c.841G>A, c.1400A>C and c.3661_3663delGAG variants lead to decreased stimulatory effect of MYH3 on SMAD3 phosphorylation, whereas c.4244T>G leads to decreased p-p38 expression. Western blot data was analyzed as ratios against samples transfected with the WT plasmid. The WT plasmid samples were set at a value of 1. The results are shown as the mean ± standard error of three independent experiments.
