A Gain-of-Function Mutation in the HIF2A Gene in Familial Erythrocytosis  

Oleh:

Percy, Melanie J. ; Furlow, Paul W. ; Lucas, Guy S. ; Xiping, Li ; Lappin, Terence R.J. ; McMullin, Mary Frances ; Lee, Frank S.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 358 no. 02 (Jan. 2008), page 162.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2008.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Hypoxia-inducible factor (HIF) , which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF- 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 protein. Our functional studies indicate that this mutation leads to stabilization of the HIF-2 protein and suggest that wild-type HIF-2 regulates erythropoietin production in adults.

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