Somatic Activating Mutations in Pik3ca Cause Sporadic Venous Malformations in Mice and Humans

Venous malformations (VMs) are painful and deforming vascular lesions composed of dilated vascular channels, present from birth. Mutations in the TEK gene, encoding the tyrosine kinase receptor TIE2, are found in approximately half of sporadic (non-familial) VMs, and the causes of the remaining case...

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Vydáno v:Sci Transl Med
Hlavní autoři: Castillo, Sandra D., Tzouanacou, Elena, Zaw-Thin, May, Berenjeno, Inma M., Parker, Victoria E.R., Chivite, Iñigo, Milà-Guasch, Maria, Pearce, Wayne, Solomon, Isabelle, Angulo-Urarte, Ana, Figueiredo, Ana M., Dewhurst, Robert E., Knox, Rachel G., Clark, Graeme R., Scudamore, Cheryl L., Badar, Adam, Kalber, Tammy L., Foster, Julie, Stuckey, Daniel J., David, Anna L., Phillips, Wayne A., Lythgoe, Mark F., Wilson, Valerie, Semple, Robert K., Sebire, Neil J., Kinsler, Veronica A., Graupera, Mariona, Vanhaesebroeck, Bart
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5973268/
https://ncbi.nlm.nih.gov/pubmed/27030595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aad9982
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