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EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors.
Perrotta S, Cucciolla V, Ferraro M, Ronzoni L, Tramontano A, Rossi F, Scudieri AC, Borriello A, Roberti D, Nobili B, Cappellini MD, Oliva A, Amendola G, Migliaccio AR, Mancuso P, Martin-Padura I, Bertolini F, Yoon D, Prchal JT, Della Ragione F. Perrotta S, et al. PLoS One. 2010 Aug 5;5(8):e12015. doi: 10.1371/journal.pone.0012015. PLoS One. 2010. Retraction in: PLoS One. 2020 Mar 4;15(3):e0230279. doi: 10.1371/journal.pone.0230279 PMID: 20700488 Free PMC article. Retracted.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: perrotta s. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.
p57(Kip2) and cancer: time for a critical appraisal.
Borriello A, Caldarelli I, Bencivenga D, Criscuolo M, Cucciolla V, Tramontano A, Oliva A, Perrotta S, Della Ragione F. Borriello A, et al. Among authors: perrotta s. Mol Cancer Res. 2011 Oct;9(10):1269-84. doi: 10.1158/1541-7786.MCR-11-0220. Epub 2011 Aug 4. Mol Cancer Res. 2011. PMID: 21816904 Review.
336 results