Ontology highlight
ABSTRACT:
SUBMITTER: Castel P
PROVIDER: S-EPMC4962922 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Castel Pau P Carmona F Javier FJ Grego-Bessa Joaquim J Berger Michael F MF Viale Agnès A Anderson Kathryn V KV Bague Silvia S Scaltriti Maurizio M Antonescu Cristina R CR Baselga Eulàlia E Baselga José J
Science translational medicine 20160301 332
Venous malformations (VM) are vascular malformations characterized by enlarged and distorted blood vessel channels. VM grow over time and cause substantial morbidity because of disfigurement, bleeding, and pain, representing a clinical challenge in the absence of effective treatments (Nguyenet al, 2014; Uebelhoeret al, 2012). Somatic mutations may act as drivers of these lesions, as suggested by the identification of TEK mutations in a proportion of VM (Limayeet al, 2009). We report that activat ...[more]