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Page 1
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ, Pastor VB, Lefkopoulos S, Sahoo SS, Busch H, Voss RK, Erlacher M, Lebrecht D, Szvetnik EA, Hirabayashi S, Pasaulienė R, Pedace L, Tartaglia M, Klemann C, Metzger P, Boerries M, Catala A, Hasle H, de Haas V, Kállay K, Masetti R, De Moerloose B, Dworzak M, Schmugge M, Smith O, Starý J, Mejstrikova E, Ussowicz M, Morris E, Singh P, Collin M, Derecka M, Göhring G, Flotho C, Strahm B, Locatelli F, Niemeyer CM, Trompouki E, Wlodarski MW; European Working Group of MDS in Childhood (EWOG-MDS). Kozyra EJ, et al. Among authors: collin m. Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18. Leukemia. 2020. PMID: 32555368 Free PMC article.
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, Collin M. Dickinson RE, et al. Among authors: collin m. Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15. Blood. 2011. PMID: 21765025 Free PMC article.
The evolution of cellular deficiency in GATA2 mutation.
Dickinson RE, Milne P, Jardine L, Zandi S, Swierczek SI, McGovern N, Cookson S, Ferozepurwalla Z, Langridge A, Pagan S, Gennery A, Heiskanen-Kosma T, Hämäläinen S, Seppänen M, Helbert M, Tholouli E, Gambineri E, Reykdal S, Gottfreðsson M, Thaventhiran JE, Morris E, Hirschfield G, Richter AG, Jolles S, Bacon CM, Hambleton S, Haniffa M, Bryceson Y, Allen C, Prchal JT, Dick JE, Bigley V, Collin M. Dickinson RE, et al. Among authors: collin m. Blood. 2014 Feb 6;123(6):863-74. doi: 10.1182/blood-2013-07-517151. Epub 2013 Dec 17. Blood. 2014. PMID: 24345756 Free PMC article.
Timely follow-up of a GATA2 deficiency patient allows successful treatment.
Ciullini Mannurita S, Vignoli M, Colarusso G, Tucci F, Veltroni M, Frenos S, Tintori V, Aricò M, Bigley V, Collin M, Favre C, Gambineri E. Ciullini Mannurita S, et al. Among authors: collin m. J Allergy Clin Immunol. 2016 Nov;138(5):1480-1483.e4. doi: 10.1016/j.jaci.2016.06.004. Epub 2016 Jul 29. J Allergy Clin Immunol. 2016. PMID: 27481672 No abstract available.
GATA2 deficiency and related myeloid neoplasms.
Wlodarski MW, Collin M, Horwitz MS. Wlodarski MW, et al. Among authors: collin m. Semin Hematol. 2017 Apr;54(2):81-86. doi: 10.1053/j.seminhematol.2017.05.002. Epub 2017 May 10. Semin Hematol. 2017. PMID: 28637621 Free PMC article.
Can somatic GATA2 mutation mimic germ line GATA2 mutation?
Sekhar M, Pocock R, Lowe D, Mitchell C, Marafioti T, Dickinson R, Collin M, Lipman M. Sekhar M, et al. Among authors: collin m. Blood Adv. 2018 Apr 24;2(8):904-908. doi: 10.1182/bloodadvances.2017012617. Blood Adv. 2018. PMID: 29669757 Free PMC article.
448 results