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- Title
Somatic PIK3CA mutations as a driver of sporadic venous malformations.
- Authors
Castel, Pau; Carmona, F. Javier; Grego-Bessa, Joaquim; Berger, Michael F.; Viale, Agnès; Anderson, Kathryn V.; Bague, Silvia; Scaltriti, Maurizio; Antonescu, Cristina R.; Baselga, Eulàlia; Baselga, José
- Abstract
The article presents the results of the study on somatic PIK3CA mutations as driver of sporadic venous malformations (VM). It states that activating PIK3CA mutations give rise to sporadic VM in mice that closely resemble histology of human disease. It mentions that PIK3CA mutations promote downstream signaling and proliferation in endothelial cells and impair normal vasculogenesis in embryonic development.
- Subjects
SOMATOFORM disorders; GENETIC mutation; LABORATORY mice; CELL proliferation; ENDOTHELIAL cells; EMBRYOLOGY
- Publication
Science Translational Medicine, 2016, Vol 8, Issue 332, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aaf1164