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Page 1
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC, Drazer MW, Yu K, Lawrence DM, Feng J, Arriola-Martinez L, Pozsgai MJ, McNeely KE, Ha T, Venugopal P, Arts P, King-Smith SL, Cheah J, Armstrong M, Wang P, Bödör C, Cantor AB, Cazzola M, Degelman E, DiNardo CD, Duployez N, Favier R, Fröhling S, Rio-Machin A, Klco JM, Krämer A, Kurokawa M, Lee J, Malcovati L, Morgan NV, Natsoulis G, Owen C, Patel KP, Preudhomme C, Raslova H, Rienhoff H, Ripperger T, Schulte R, Tawana K, Velloso E, Yan B, Kim E, Sood R, Hsu AP, Holland SM, Phillips K, Poplawski NK, Babic M, Wei AH, Forsyth C, Mar Fan H, Lewis ID, Cooney J, Susman R, Fox LC, Blombery P, Singhal D, Hiwase D, Phipson B, Schreiber AW, Hahn CN, Scott HS, Liu P, Godley LA, Brown AL; NISC Comparative Sequencing Program. Homan CC, et al. Among authors: favier r. Blood Adv. 2023 Oct 24;7(20):6092-6107. doi: 10.1182/bloodadvances.2023010045. Blood Adv. 2023. PMID: 37406166 Free PMC article.
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F. Delage L, et al. Among authors: favier r. Nat Commun. 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. Nat Commun. 2023. PMID: 37349339 Free PMC article.
Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.
Kat M, van Moort I, Bürgisser PE, Kuijpers TW, Hofman M, Favier M, Favier R, Margadant C, Voorberg J, Bierings R. Kat M, et al. Among authors: favier r. Res Pract Thromb Haemost. 2023 Feb 14;7(2):100086. doi: 10.1016/j.rpth.2023.100086. eCollection 2023 Feb. Res Pract Thromb Haemost. 2023. PMID: 36923710 Free PMC article.
Germline RUNX1 variants in paediatric patients in a French specialised centre.
Liu C, Ballerini P, Nguyen G, Mincheva Z, Copin B, Bouslama B, Leverger G, Petit A, Favier R, Lapillonne H, Boutroux H. Liu C, et al. Among authors: favier r. EJHaem. 2022 Nov 6;4(1):145-152. doi: 10.1002/jha2.594. eCollection 2023 Feb. EJHaem. 2022. PMID: 36819173 Free PMC article.
ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.
Basso-Valentina F, Donada A, Manchev VT, Lisetto M, Balayn N, Martin JE, Muller D, Oyarzun CPM, Duparc H, Arkoun B, Cumin A, Faivre L, Droin N, Biunno I, Pecci A, Balduini A, Debili N, Antony-Debré I, Marty C, Vainchenker W, Plo I, Favier R, Raslova H. Basso-Valentina F, et al. Among authors: favier r. Haematologica. 2023 Aug 1;108(8):2130-2145. doi: 10.3324/haematol.2022.282049. Haematologica. 2023. PMID: 36794499 Free PMC article.
274 results