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611 results

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Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita.
Nachmani D, Bothmer AH, Grisendi S, Mele A, Bothmer D, Lee JD, Monteleone E, Cheng K, Zhang Y, Bester AC, Guzzetti A, Mitchell CA, Mendez LM, Pozdnyakova O, Sportoletti P, Martelli MP, Vulliamy TJ, Safra M, Schwartz S, Luzzatto L, Bluteau O, Soulier J, Darnell RB, Falini B, Dokal I, Ito K, Clohessy JG, Pandolfi PP. Nachmani D, et al. Among authors: soulier j. Nat Genet. 2019 Oct;51(10):1518-1529. doi: 10.1038/s41588-019-0502-z. Epub 2019 Sep 30. Nat Genet. 2019. PMID: 31570891 Free PMC article.
PHF6 mutations in T-cell acute lymphoblastic leukemia.
Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippé J, González-García S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao X, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A. Van Vlierberghe P, et al. Among authors: soulier j. Nat Genet. 2010 Apr;42(4):338-42. doi: 10.1038/ng.542. Epub 2010 Mar 14. Nat Genet. 2010. PMID: 20228800 Free PMC article.
The TLX1 oncogene drives aneuploidy in T cell transformation.
De Keersmaecker K, Real PJ, Gatta GD, Palomero T, Sulis ML, Tosello V, Van Vlierberghe P, Barnes K, Castillo M, Sole X, Hadler M, Lenz J, Aplan PD, Kelliher M, Kee BL, Pandolfi PP, Kappes D, Gounari F, Petrie H, Van der Meulen J, Speleman F, Paietta E, Racevskis J, Wiernik PH, Rowe JM, Soulier J, Avran D, Cavé H, Dastugue N, Raimondi S, Meijerink JP, Cordon-Cardo C, Califano A, Ferrando AA. De Keersmaecker K, et al. Among authors: soulier j. Nat Med. 2010 Nov;16(11):1321-7. doi: 10.1038/nm.2246. Epub 2010 Oct 24. Nat Med. 2010. PMID: 20972433 Free PMC article.
Actinomycin D Targets NPM1c-Primed Mitochondria to Restore PML-Driven Senescence in AML Therapy.
Wu HC, Rérolle D, Berthier C, Hleihel R, Sakamoto T, Quentin S, Benhenda S, Morganti C, Wu C, Conte L, Rimsky S, Sebert M, Clappier E, Souquere S, Gachet S, Soulier J, Durand S, Trowbridge JJ, Bénit P, Rustin P, El Hajj H, Raffoux E, Ades L, Itzykson R, Dombret H, Fenaux P, Espeli O, Kroemer G, Brunetti L, Mak TW, Lallemand-Breitenbach V, Bazarbachi A, Falini B, Ito K, Martelli MP, de Thé H. Wu HC, et al. Among authors: soulier j. Cancer Discov. 2021 Dec 1;11(12):3198-3213. doi: 10.1158/2159-8290.CD-21-0177. Cancer Discov. 2021. PMID: 34301789 Free PMC article.
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia.
Cavazzana-Calvo M, Payen E, Negre O, Wang G, Hehir K, Fusil F, Down J, Denaro M, Brady T, Westerman K, Cavallesco R, Gillet-Legrand B, Caccavelli L, Sgarra R, Maouche-Chrétien L, Bernaudin F, Girot R, Dorazio R, Mulder GJ, Polack A, Bank A, Soulier J, Larghero J, Kabbara N, Dalle B, Gourmel B, Socie G, Chrétien S, Cartier N, Aubourg P, Fischer A, Cornetta K, Galacteros F, Beuzard Y, Gluckman E, Bushman F, Hacein-Bey-Abina S, Leboulch P. Cavazzana-Calvo M, et al. Among authors: soulier j. Nature. 2010 Sep 16;467(7313):318-22. doi: 10.1038/nature09328. Nature. 2010. PMID: 20844535 Free PMC article.
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P. Touzot F, et al. Among authors: soulier j. J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10. J Allergy Clin Immunol. 2012. PMID: 22078571
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: soulier j. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. Among authors: soulier j. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500492 Free PMC article.
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M, Passet M, Raimbault A, Rahmé R, Raffoux E, Sicre de Fontbrune F, Cerrano M, Quentin S, Vasquez N, Da Costa M, Boissel N, Dombret H, Peffault de Latour R, Socié G, Itzykson R, Fenaux P, Soulier J, Adès L, Clappier E. Sébert M, et al. Among authors: soulier j. Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909. Blood. 2019. PMID: 31484648 Free article.
611 results