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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
Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.
Cabagnols X, Favale F, Pasquier F, Messaoudi K, Defour JP, Ianotto JC, Marzac C, Le Couédic JP, Droin N, Chachoua I, Favier R, Diop MK, Ugo V, Casadevall N, Debili N, Raslova H, Bellanné-Chantelot C, Constantinescu SN, Bluteau O, Plo I, Vainchenker W. Cabagnols X, et al. Blood. 2016 Jan 21;127(3):333-42. doi: 10.1182/blood-2015-07-661983. Epub 2015 Oct 8. Blood. 2016. PMID: 26450985 Free article.
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
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.
Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, Plo I, Bordessoule D, Chomienne C, Delannoy A, Devidas A, Gardembas-Pain M, Isnard F, Plumelle Y, Bernard O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Saint-Martin C, et al. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29. Blood. 2009. PMID: 19564637 Free article.
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.
Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, Toussaint A, Solary E, Kralovics R, Constantinescu SN, Najman A, Vainchenker W, Plo I, Bellanné-Chantelot C. Marty C, et al. Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7. Blood. 2014. PMID: 24398328 Free article.
198 results