Figure 5.

Putative role of mutated TKS4 in Frank-ter Haar syndrome (FTHS). During embryogenesis, differentiating cells must react properly to growth factor signals, migrate via podosome machinery to the determined position in the embryo, degrade the ECM during their migration, send extracellular signaling molecules to other cells, and occasionally undergo EMT. In each step, TKS4 has an experimentally described role. However, there are insufficient evidence at the organismal, tissue, cellular, and even biochemical levels to have a clear understanding of how TKS4 participates in disease manifestation. ECM–extracellular matrix, EMT–epithelial-mesenchymal transition.