EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34(+) Cell Differentiation and Increases Circulating Endothelial Precursors

BACKGROUND: Gain-of-function of erythropoietin receptor (EPOR) mutations represent the major cause of primary hereditary polycythemia. EPOR is also found in non-erythroid tissues, although its physiological role is still undefined. METHODOLOGY/PRINCIPAL FINDINGS: We describe a family with polycythem...

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Detalles Bibliográficos
Autores principales: Perrotta, Silverio, Cucciolla, Valeria, Ferraro, Marcella, Ronzoni, Luisa, Tramontano, Annunziata, Rossi, Francesca, Scudieri, Anna Chiara, Borriello, Adriana, Roberti, Domenico, Nobili, Bruno, Cappellini, Maria Domenica, Oliva, Adriana, Amendola, Giovanni, Migliaccio, Anna Rita, Mancuso, Patrizia, Martin-Padura, Ines, Bertolini, Francesco, Yoon, Donghoon, Prchal, Josef T., Della Ragione, Fulvio
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916842/
https://www.ncbi.nlm.nih.gov/pubmed/20700488
http://dx.doi.org/10.1371/journal.pone.0012015

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