Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas

Hypoxia-inducible factors (HIFs) control the cellular response to hypoxia and, when dysregulated, contribute to tumorigenesis. Previously, we identified 2 gain-of-function somatic mutations in patients presenting with multiple paragangliomas or somatostatinomas, and polycythemia. Here, we report 2 a...

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Detalhes bibliográficos
Main Authors: Yang, Chunzhang, Sun, Michael G., Matro, Joey, Huynh, Thanh T., Rahimpour, Shervin, Prchal, Josef T., Lechan, Ronald, Lonser, Russell, Pacak, Karel, Zhuang, Zhengping
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2013
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612863/
https://ncbi.nlm.nih.gov/pubmed/23361906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-10-460972
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