Vascular anomalies: From genetics toward models for therapeutic trials

Melanie Uebelhoer, Laurence M. Boon, Miikka Vikkula*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


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.

Original languageEnglish (US)
Article numbera009688
JournalCold Spring Harbor Perspectives in Medicine
Issue number8
StatePublished - Aug 2012
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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