A Knock-in Mouse Model of Human PHD2 Gene-associated Erythrocytosis Establishes a Haploinsufficiency Mechanism

The central pathway for controlling red cell mass is the PHD (prolyl hydroxylase domain protein):hypoxia-inducible factor (HIF) pathway. HIF, which is negatively regulated by PHD, activates numerous genes, including ones involved in erythropoiesis, such as the ERYTHROPOIETIN (EPO) gene. Recent studi...

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Hlavní autoři: Arsenault, Patrick R., Pei, Fei, Lee, Rebecca, Kerestes, Heddy, Percy, Melanie J., Keith, Brian, Simon, M. Celeste, Lappin, Terence R. J., Khurana, Tejvir S., Lee, Frank S.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2013
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3837105/
https://ncbi.nlm.nih.gov/pubmed/24121508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.482364
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