Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

Mutations in the endothelial cell (EC) tyrosine kinase receptor TIE2 cause inherited and sporadic forms of venous malformation. The recurrent somatic mutation L914F and common germline mutation R849W differ in terms of phosphorylation level, as well as sub-cellular localization and trafficking of th...

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Autori principali: Uebelhoer, Melanie, Nätynki, Marjut, Kangas, Jaakko, Mendola, Antonella, Nguyen, Ha-Long, Soblet, Julie, Godfraind, Catherine, Boon, Laurence M., Eklund, Lauri, Limaye, Nisha, Vikkula, Miikka
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2013
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3736867/
https://ncbi.nlm.nih.gov/pubmed/23633549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt198
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