Extent of hematopoietic involvement by TET2 mutations in JAK2V617F polycythemia vera

Autor: Sabina I. Swierczek, Donghoon Yoon, Christine Bellanné-Chantelot, Soo Jin Kim, Cécile Saint-Martin, Francois Delhommeau, Albert Najman, Josef T. Prchal

Publikováno v: Haematologica, Vol 96, Iss 5 (2011)

TET2 mutations are found in polycythemia vera and it was initially reported that there is a greater TET2 mutational burden than JAK2V617F in polycythemia vera stem cells and that TET2 mutations precede JAK2V617F. We quantified the proportion of TET2,

Externí odkaz: https://doaj.org/article/06f8e7eab89a4e7ba1a4876da408e923

An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2

Autor: Graciela, Rabadan Moraes, Florence, Pasquier, Christophe, Marzac, Eric, Deconinck, Carlotta Caterina, Damanti, Gwendoline, Leroy, Mira, El-Khoury, Wassim, El Nemer, Jean-Jacques, Kiladjian, Hana, Raslova, Albert, Najman, William, Vainchenker, Caroline, Marty, Christine, Bellanné-Chantelot, Isabelle, Plo

Publikováno v: British journal of haematologyREFERENCES. 198(1)

Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPOR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::73e767ec2913bb12627dfde155cd7acf
https://pubmed.ncbi.nlm.nih.gov/35355248

Growth Inhibiting Factors of Hematopoietic Stem Cells Produced by Malignant Cells

Autor: Albert Najman, Guigon M

Publikováno v: Malignant Cell Secretion ISBN: 9780429276064
Malignant Cell Secretion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6bf5125143749ccfa71ccbd4af14fffd
https://doi.org/10.1201/9780429276064-8

Analysis of the Ten-Eleven Translocation 2 (TET2) gene in familial myeloproliferative neoplasms

Autor: Yves Plumelle, Albert Najman, Dominique Bordessoule, Isabelle Plo, Sabrina Dupont, William Vainchenker, Olivier Bernard, François Delhommeau, Alain Devidas, Christine Bellanné-Chantelot, Christine Chomienne, Françoise Isnard, Gwendoline Leroy, Chloé James, Cécile Saint-Martin, Martine Gardembas-Pain, André Delannoy, Gérard Panelatti

Publikováno v: Blood
Blood, American Society of Hematology, 2009, 114 (8), pp.1628-32. ⟨10.1182/blood-2009-01-197525⟩

The JAK2V617F mutation does not elucidate the phenotypic variability observed in myeloproliferative neoplasm (MPN) families. A putative tumor suppressor gene, TET2, was recently implicated in MPN and myelodysplastic syndromes through the identificati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209b27d70a449da9b5d33b3d5bfb5331
https://doi.org/10.1182/blood-2009-01-197525

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

Autor: Hana Raslova, Eric Solary, Sabine Charrier, Jane Merlevede, Gaëlle Lenglet, Antonio Di Stefano, M'Boyba Diop, Véronique Della Valle, Gwendoline Leroy, Boris Keren, Cécile Saint-Martin, Christine Bellanné-Chantelot, Sarah Grosjean, Lise Secardin, Philippe Dessen, Caroline Marty, Nicole Casadevall, Emna Mahfoudhi, Najet Debili, Florence Pasquier, Isabelle Plo, Françoise Isnard, Joseph Saliba, Pascal Fuseau, Albert Najman, Jean-Côme Meniane, Olivier Bernard, Christine Delaunay-Darivon, Alberta Palazzo, William Vainchenker, Nathalie Droin

Publikováno v: Nature Genetics
Nature Genetics, 2015, 47 (10), pp.1131-1140. ⟨10.1038/ng.3380⟩
Nature Genetics, Nature Publishing Group, 2015, 47 (10), pp.1131-1140. ⟨10.1038/ng.3380⟩

International audience; No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aef0f5d0f376850b705b56dca3d58157
https://hal.science/hal-02881018/document