Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Point mutations in the 5′ UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and hea...

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Détails bibliographiques
Auteurs principaux: Bluteau, Dominique, Balduini, Alessandra, Balayn, Nathalie, Currao, Manuela, Nurden, Paquita, Deswarte, Caroline, Leverger, Guy, Noris, Patrizia, Perrotta, Silverio, Solary, Eric, Vainchenker, William, Debili, Najet, Favier, Remi, Raslova, Hana
Format: Artigo
Langue:Inglês
Publié: American Society for Clinical Investigation 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3904625/
https://ncbi.nlm.nih.gov/pubmed/24430186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI71861
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