Fig. 1
From: Future treatments for hereditary hemorrhagic telangiectasia
Mutated genes in HHT encode members of the BMP9/BMP10 signaling pathway. The cartoon depicts the BMP9/BMP10 signaling pathway in endothelial cells. After ligand binding to cell surface receptors, signal transduction proceeds through phosphorylation of the type 1 receptor ALK1, phosphorylation of Smad 1/5/9, translocation of the Smad complex to the nucleus and transcriptional effects on target genes, as indicated by blue arrows. The left part of the Figure lists the names of the genes that are mutated in HHT patients and the arrows point to their gene products. The frequency of the mutations is indicated in % between the parentheses