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Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment.
Sabri S, Foudi A, Boukour S, Franc B, Charrier S, Jandrot-Perrus M, Farndale RW, Jalil A, Blundell MP, Cramer EM, Louache F, Debili N, Thrasher AJ, Vainchenker W. Sabri S, et al. Among authors: debili n. Blood. 2006 Jul 1;108(1):134-40. doi: 10.1182/blood-2005-03-1219. Epub 2006 Mar 7. Blood. 2006. PMID: 16522820 Free article.
Proplatelet formation is regulated by the Rho/ROCK pathway.
Chang Y, Auradé F, Larbret F, Zhang Y, Le Couedic JP, Momeux L, Larghero J, Bertoglio J, Louache F, Cramer E, Vainchenker W, Debili N. Chang Y, et al. Among authors: debili n. Blood. 2007 May 15;109(10):4229-36. doi: 10.1182/blood-2006-04-020024. Epub 2007 Jan 23. Blood. 2007. PMID: 17244674 Free article.
Loss of the F-BAR protein CIP4 reduces platelet production by impairing membrane-cytoskeleton remodeling.
Chen Y, Aardema J, Kale S, Whichard ZL, Awomolo A, Blanchard E, Chang B, Myers DR, Ju L, Tran R, Reece D, Christensen H, Boukour S, Debili N, Strom TS, Rawlings D, Vázquez FX, Voth GA, Zhu C, Kahr WH, Lam WA, Corey SJ. Chen Y, et al. Among authors: debili n. Blood. 2013 Sep 5;122(10):1695-706. doi: 10.1182/blood-2013-03-484550. Epub 2013 Jul 23. Blood. 2013. PMID: 23881916 Free PMC article.
A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.
Manchev VT, Hilpert M, Berrou E, Elaib Z, Aouba A, Boukour S, Souquere S, Pierron G, Rameau P, Andrews R, Lanza F, Bobe R, Vainchenker W, Rosa JP, Bryckaert M, Debili N, Favier R, Raslova H. Manchev VT, et al. Among authors: debili n. Blood. 2014 Oct 16;124(16):2554-63. doi: 10.1182/blood-2014-01-551820. Epub 2014 Jul 24. Blood. 2014. PMID: 25061177 Free PMC article.
144 results