TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction
Aortic Aneurysm, Thoracic
Genetic Predisposition to Disease
Receptors, Transforming Growth Factor beta
Transforming Growth Factor beta2
We propose that TGFβRIIb expression is a regulatory mechanism for TGFβ2 signal transduction. Dysregulation of the TGFβ2 signaling pathway, as a consequence of TGFβRIIb mutations, results in aortic aneurysm pathogenesis.