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ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies.
Pegliasco J, Schmaltz-Panneau B, Martin JE, Chraibi S, Khalife-Hachem S, Salviat F, Pasquier F, Willekens C, Lopez M, Ben-Ali A, Bera O, Caron O, Castilla-Llorent C, Cotteret S, Bourdin C, Saada V, Auger N, de Botton S, Vainchenker W, Fuseau P, Helias P, Benabdelali R, Marzac C, Meniane JC, Plo I, Bellanné-Chantelot C, Micol JB. Pegliasco J, et al. Leuk Lymphoma. 2021 Jul;62(7):1770-1773. doi: 10.1080/10428194.2021.1881508. Epub 2021 Feb 7. Leuk Lymphoma. 2021. PMID: 33554699 No abstract available.
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.
Pegliasco J, Hirsch P, Marzac C, Isnard F, Meniane JC, Deswarte C, Pellet P, Lemaitre C, Leroy G, Rabadan Moraes G, Guermouche H, Schmaltz-Panneau B, Pasquier F, Colas C, Benusiglio PR, Bera O, Bourhis JH, Brissot E, Caron O, Chraibi S, Cony-Makhoul P, Delaunay-Darivon C, Lapusan S, de Fontbrune FS, Fuseau P, Najman A, Vainchenker W, Delhommeau F, Micol JB, Plo I, Bellanné-Chantelot C. Pegliasco J, et al. Leukemia. 2022 Jan;36(1):126-137. doi: 10.1038/s41375-021-01319-w. Epub 2021 Jun 25. Leukemia. 2022. PMID: 34172895
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
Saliba J, Saint-Martin C, Di Stefano A, Lenglet G, Marty C, Keren B, Pasquier F, Valle VD, Secardin L, Leroy G, Mahfoudhi E, Grosjean S, Droin N, Diop M, Dessen P, Charrier S, Palazzo A, Merlevede J, Meniane JC, Delaunay-Darivon C, Fuseau P, Isnard F, Casadevall N, Solary E, Debili N, Bernard OA, Raslova H, Najman A, Vainchenker W, Bellanné-Chantelot C, Plo I. Saliba J, et al. Nat Genet. 2015 Oct;47(10):1131-40. doi: 10.1038/ng.3380. Epub 2015 Aug 17. Nat Genet. 2015. PMID: 26280900
Identification of MPL R102P Mutation in Hereditary Thrombocytosis.
Bellanné-Chantelot C, Mosca M, Marty C, Favier R, Vainchenker W, Plo I. Bellanné-Chantelot C, et al. Front Endocrinol (Lausanne). 2017 Sep 20;8:235. doi: 10.3389/fendo.2017.00235. eCollection 2017. Front Endocrinol (Lausanne). 2017. PMID: 28979237 Free PMC article.
198 results