Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

BACKGROUND: Congenital secondary erythrocytoses are due to deregulation of hypoxia inducible factor resulting in overproduction of erythropoietin. The most common germline mutation identified in the hypoxia signaling pathway is the Arginine 200-Tryptophan mutant of the von Hippel-Lindau tumor suppre...

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Main Authors: Ladroue, Charline, Hoogewijs, David, Gad, Sophie, Carcenac, Romain, Storti, Federica, Barrois, Michel, Gimenez-Roqueplo, Anne-Paule, Leporrier, Michel, Casadevall, Nicole, Hermine, Olivier, Kiladjian, Jean-Jacques, Baruchel, André, Fakhoury, Fadi, Bressac-de Paillerets, Brigitte, Feunteun, Jean, Mazure, Nathalie, Pouysségur, Jacques, Wenger, Roland H., Richard, Stéphane, Gardie, Betty
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2012
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248925/
https://ncbi.nlm.nih.gov/pubmed/21933857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.044644
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