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An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms.
Br J Haematol. 2022 Jul;198(1):131-136. doi: 10.1111/bjh.18165. Epub 2022 Mar 30.
Br J Haematol. 2022.
PMID: 35355248
Different impact of calreticulin mutations on human hematopoiesis in myeloproliferative neoplasms.
El-Khoury M, Cabagnols X, Mosca M, Vertenoeil G, Marzac C, Favale F, Bluteau O, Lorre F, Tisserand A, Rabadan Moraes G, Ugo V, Ianotto JC, Rey J, Solary E, Roy L, Rameau P, Debili N, Pasquier F, Casadevall N, Marty C, Constantinescu SN, Raslova H, Vainchenker W, Plo I.
El-Khoury M, et al. Among authors: rabadan moraes g.
Oncogene. 2020 Jul;39(31):5323-5337. doi: 10.1038/s41388-020-1368-3. Epub 2020 Jun 22.
Oncogene. 2020.
PMID: 32572159
Free article.
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Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C, Rabadan Moraes G, Schmaltz-Panneau B, Marty C, Vainchenker W, Plo I.
Bellanné-Chantelot C, et al. Among authors: rabadan moraes g.
Blood Rev. 2020 Jul;42:100710. doi: 10.1016/j.blre.2020.100710. Epub 2020 May 29.
Blood Rev. 2020.
PMID: 32532454
Review.
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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. Among authors: rabadan moraes g.
Leukemia. 2022 Jan;36(1):126-137. doi: 10.1038/s41375-021-01319-w. Epub 2021 Jun 25.
Leukemia. 2022.
PMID: 34172895
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