Article
EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors.
PloS one - 5 Aug 2010
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
Abstract excerpt
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 polycythemia due to a heterozygous mutation of the EPOR gene that causes a G-->T change at nucleotide 1251 of exon 8. The...
Topics
- Adolescent
- Adult
- Antigens, CD34
- Base Sequence
- Case-Control Studies
- Cell Differentiation
- Cell Membrane
- Cell Proliferation