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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2021
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8021124/
https://ncbi.nlm.nih.gov/pubmed/33497361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.144368
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