Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 358, Issue 2, Pages 162-168Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa073123
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Funding
- NCI NIH HHS [R01 CA090261-05, R01 CA090261] Funding Source: Medline
- PHS HHS [R01 C090261] Funding Source: Medline
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Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2 alpha protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2 alpha protein and suggest what wild-type HIF-2 alpha regulates erythropoietin production in adults.
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