FIGURE

Fig. 4

ID

ZDB-FIG-240828-47

Publication

De Bortoli et al., 2024 - Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV)

Other Figures

All Figure Page

Back to All Figure Page

Fig. 4

Western blot analysis of Akt and ERK phosphorylation and treatment with PI3K pathways inhibitors. (a) Patient-derived EC-N564D display Akt phosphorylation. pAkt is decreased after treatment with rapamycin and BYL719 (48 h) or MK2206 (24 h). (b) Patient-derived EC-L573P display Akt phosphorylation. pAkt is decreased after treatment with rapamycin and BYL719 (48 h) or MK2206 (24 h). (c) Patient-derived EC-N564D show ERK phosphorylation. pERK is decreased upon treatment with BYL719 but not with rapamycin or MK2206. (d) Patient-derived EC-L573P show ERK phosphorylation. pERK is decreased upon treatment with BYL719 and MK2206 but not with rapamycin. ?-Actinin was used as loading control. PIK3CA-hs ECs are primary cells from a patient with CLVM (H1047R PIK3CA mutation). Error bars are shown as measure of variability and represent the SD. Experiments were repeated n = 5 times for EC-N564D cells. Owing to a shortage of surgical resected tissue and limited number of viable EC-L573P passages, Akt/pAkt and ERK/pERK were repeated n = 2 and n = 1 times, respectively. Akt, protein kinase B; CLVM, capillaro?lymphatico?venous malformation; EC, endothelial cell; ERK, extracellular signal?regulated kinase; h, hour; hs, hotspot; ns, not significant; pAkt, phosphorylated protein kinase B; pERK, phosphorylated extracellular signal?regulated kinase; PI3K, phosphoinositide 3-kinase.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ J. Invest. Dermatol.