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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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב: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
פורמט: Artigo
שפה:Inglês
יצא לאור: American Society for Clinical Investigation 2021
נושאים:
Research Article
גישה מקוונת: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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