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MEIS1 regulates early erythroid and megakaryocytic cell fate.
Zeddies S, Jansen SB, di Summa F, Geerts D, Zwaginga JJ, van der Schoot CE, von Lindern M, Thijssen-Timmer DC. Zeddies S, et al. Among authors: di summa f. Haematologica. 2014 Oct;99(10):1555-64. doi: 10.3324/haematol.2014.106567. Epub 2014 Aug 8. Haematologica. 2014. PMID: 25107888 Free PMC article.
Dynamin 3 participates in the growth and development of megakaryocytes.
Reems JA, Wang W, Tsubata K, Abdurrahman N, Sundell B, Tijssen MR, van der Schoot E, Di Summa F, Patel-Hett S, Italiano J Jr, Gilligan DM. Reems JA, et al. Among authors: di summa f. Exp Hematol. 2008 Dec;36(12):1714-27. doi: 10.1016/j.exphem.2008.08.010. Exp Hematol. 2008. PMID: 19007685 Free PMC article.
The RNA-Binding Protein ATXN2 is Expressed during Megakaryopoiesis and May Control Timing of Gene Expression.
Hansen M, Zeddies S, Meinders M, di Summa F, van Alphen FPJ, Hoogendijk AJ, Moore KS, Halbach M, Gutiérrez L, van den Biggelaar M, Thijssen-Timmer DC, Auburger GWJ, van den Akker E, von Lindern M, Rollmann E. Hansen M, et al. Among authors: di summa f. Int J Mol Sci. 2020 Jan 31;21(3):967. doi: 10.3390/ijms21030967. Int J Mol Sci. 2020. PMID: 32024018 Free PMC article.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. Paolini NA, et al. Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034. Am J Hum Genet. 2017. PMID: 28257692 Free PMC article.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Wlodarski MW, et al. Among authors: di summa fm. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599205 Free PMC article.
Evidence for at least eight Fanconi anemia genes.
Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA, Ebell W, van Weel M, Pronk JC, Buchwald M, Arwert F. Joenje H, et al. Among authors: di summa fm. Am J Hum Genet. 1997 Oct;61(4):940-4. doi: 10.1086/514881. Am J Hum Genet. 1997. PMID: 9382107 Free PMC article.
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