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Figure 13 | Orphanet Journal of Rare Diseases

Figure 13

From: Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

Figure 13

Preliminary cell model of ECM calcification in PXE. PXE fibroblasts reveal perturbation of a specific set of signalling pathways including BMP2-SMADs-RUNX2, TGFβ-2-SMADs-CTGF, MSX2-Wnt and pERK signalling. Apoptosis seems to be involved in PXE mineralization through RUNX2 and BCL-2. Besides the ECM mineralization, some of the perturbed signalling molecules, such as RUNX2 and TGFβ-2 can be related to neovascularisation, a common process in the complicated PXE retinopathy.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172