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Page 1
New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.
Pasquier F, Marty C, Balligand T, Verdier F, Grosjean S, Gryshkova V, Raslova H, Constantinescu SN, Casadevall N, Vainchenker W, Bellanné-Chantelot C, Plo I. Pasquier F, et al. Among authors: grosjean s. Haematologica. 2018 Apr;103(4):575-586. doi: 10.3324/haematol.2017.176370. Epub 2017 Dec 21. Haematologica. 2018. PMID: 29269524 Free PMC article.
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. Among authors: grosjean s. Nat Genet. 2015 Oct;47(10):1131-40. doi: 10.1038/ng.3380. Epub 2015 Aug 17. Nat Genet. 2015. PMID: 26280900
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. Among authors: grosjean s. 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.