Vascular anomalies: from genetics toward models for therapeutic trials

Cold Spring Harb Perspect Med. 2012 Aug 1;2(8):a009688. doi: 10.1101/cshperspect.a009688.

Abstract

Vascular anomalies are localized abnormalities that occur during vascular development. Several causative genes have been identified not only for inherited but also for some sporadic forms, and the molecular pathways involved are becoming understood. This gives us the opportunity to generate animals carrying the causative genetic defects, which we hope model the phenotype seen in human patients. These models would enable us not only to test known antiangiogenic drugs, but also to develop novel approaches for treatment, directly targeting the mutated protein or molecules implicated in the pathophysiological signaling pathways.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Capillaries / abnormalities
  • Disease Models, Animal
  • Female
  • Hemangioma / genetics
  • Humans
  • Lymph Nodes / abnormalities
  • Lymphedema / genetics
  • Male
  • Mice
  • Mutation / genetics
  • Skin Neoplasms / genetics
  • Soft Tissue Neoplasms / genetics
  • Telangiectasia, Hereditary Hemorrhagic / genetics
  • Vascular Malformations / genetics*