ABSTRACT
Appropriate formation of the vascular system is essential for life. Numerous knockout mouse models have been used to define molecules that contribute to the intricate pathways of angiogenesis and vasculogenesis. Resultant early embryonic lethal phenotypes due to impaired vascular or cardiac morphogenesis identify molecules essential for the earliest stages of vascular development. The human vascular defects which create specific, localized defects in the blood vessels provide a complementary approach since the genetic defects that generate these progressive lesions which develop with time have the potential to define finer regulators of integrated responses. Investigations into the genes involved in such inherited malformation syndromes are allowing parallels to be drawn between conditions resulting in apparently disparate vascular endpoints. Furthermore, understanding these pathophysiological mechanisms also permits insights into the processes that maintain, remodel and adapt the vasculature to the stresses encountered in adult life.
