Vascular anomalies: from genetics toward models for therapeutic trials.
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.
Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Melanie
M
Uebelhoer
Laurence M
LM
Boon
Miikka
M
Vikkula
D000818:Animals; D002196:Capillaries / Q000002:abnormalities; D004195:Disease Models, Animal; D005260:Female; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D008198:Lymph Nodes / Q000002:abnormalities; D008209:Lymphedema / Q000235:genetics; D008297:Male; D051379:Mice; D009154:Mutation / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics; D012983:Soft Tissue Neoplasms / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics; D054079:Vascular Malformations / Q000235:genetics*