Developmental vascular malformations in EPAS1 gain-of-function syndrome

Mutations in EPAS1, encoding hypoxia-inducible factor-2α (HIF-2α), were previously identified in a syndrome of multiple paragangliomas, somatostatinoma, and polycythemia. HIF-2α, when dimerized with HIF-1β, acts as an angiogenic transcription factor. Patients referred to the NIH for new, recurrent,...

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Detalles Bibliográficos
Autores principales: Rosenblum, Jared S., Wang, Herui, Dmitriev, Pauline M., Cappadona, Anthony J., Mastorakos, Panagiotis, Xu, Chen, Jha, Abhishek, Edwards, Nancy, Donahue, Danielle R., Munasinghe, Jeeva, Nazari, Matthew A., Knutsen, Russell H., Rosenblum, Bruce R., Smirniotopoulos, James G., Pappo, Alberto, Spetzler, Robert F., Vortmeyer, Alexander, Gilbert, Mark R., McGavern, Dorian B., Chew, Emily, Kozel, Beth A., Heiss, John D., Zhuang, Zhengping, Pacak, Karel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8021124/
https://www.ncbi.nlm.nih.gov/pubmed/33497361
http://dx.doi.org/10.1172/jci.insight.144368

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