Fig. 5
From: A somatic mutation in PIK3CD unravels a novel candidate gene for lymphatic malformation
The identified PIK3CD mutation leads to aberrant activation of the mTOR pathway. a Schematic figure showing that activation of mTOR is regulated by the upstream proteins PIK3 and AKT. b RT-qPCR and c immunoblot analysis of AKT, mTOR and S6 mRNA and protein expression, respectively, in Ctrl-, WT- and MT-HUVECs. Ctrl, empty vector; WT, wild-type; MT, PIK3CD mutant. d Quantification of the protein band intensity. There are no significant differences between WT and Mut group in p-AKT/AKT level (p > 0.05). There are significant differences between WT and Mut group in p-mTOR/mTOR (p < 0.01). There are no significant differences between WT and Mut group in p-S6/S6 level (p > 0.05). Data are presented as the mean ± SD (n = 3–5 per group). *p < 0.05, **p < 0.01 and ***p < 0.001 compared with the Ctrl group (Student’s t test)