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Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations.
Choudhary GS, Pellagatti A, Agianian B, Smith MA, Bhagat TD, Gordon-Mitchell S, Sahu S, Pandey S, Shah N, Aluri S, Aggarwal R, Aminov S, Schwartz L, Steeples V, Booher RN, Ramachandra M, Samson M, Carbajal M, Pradhan K, Bowman TV, Pillai MM, Will B, Wickrema A, Shastri A, Bradley RK, Martell RE, Steidl UG, Gavathiotis E, Boultwood J, Starczynowski DT, Verma A. Choudhary GS, et al. Elife. 2022 Aug 30;11:e78136. doi: 10.7554/eLife.78136. Elife. 2022. PMID: 36040792 Free PMC article.
Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.
Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, Yoshizato T, Shiozawa Y, Saiki R, Malcovati L, Levine MF, Arango JE, Zhou Y, Solé F, Cargo CA, Haase D, Creignou M, Germing U, Zhang Y, Gundem G, Sarian A, van de Loosdrecht AA, Jädersten M, Tobiasson M, Kosmider O, Follo MY, Thol F, Pinheiro RF, Santini V, Kotsianidis I, Boultwood J, Santos FPS, Schanz J, Kasahara S, Ishikawa T, Tsurumi H, Takaori-Kondo A, Kiguchi T, Polprasert C, Bennett JM, Klimek VM, Savona MR, Belickova M, Ganster C, Palomo L, Sanz G, Ades L, Della Porta MG, Elias HK, Smith AG, Werner Y, Patel M, Viale A, Vanness K, Neuberg DS, Stevenson KE, Menghrajani K, Bolton KL, Fenaux P, Pellagatti A, Platzbecker U, Heuser M, Valent P, Chiba S, Miyazaki Y, Finelli C, Voso MT, Shih LY, Fontenay M, Jansen JH, Cervera J, Atsuta Y, Gattermann N, Ebert BL, Bejar R, Greenberg PL, Cazzola M, Hellström-Lindberg E, Ogawa S, Papaemmanuil E. Bernard E, et al. Nat Med. 2020 Oct;26(10):1549-1556. doi: 10.1038/s41591-020-1008-z. Epub 2020 Aug 3. Nat Med. 2020. PMID: 32747829 Free PMC article.
Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes.
Follo MY, Pellagatti A, Armstrong RN, Ratti S, Mongiorgi S, De Fanti S, Bochicchio MT, Russo D, Gobbi M, Miglino M, Parisi S, Martinelli G, Cavo M, Luiselli D, McCubrey JA, Suh PG, Manzoli L, Boultwood J, Finelli C, Cocco L. Follo MY, et al. Leukemia. 2019 Sep;33(9):2276-2290. doi: 10.1038/s41375-019-0416-x. Epub 2019 Feb 20. Leukemia. 2019. PMID: 30787430 Free PMC article.
Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.
Dolatshad H, Pellagatti A, Liberante FG, Llorian M, Repapi E, Steeples V, Roy S, Scifo L, Armstrong RN, Shaw J, Yip BH, Killick S, Kušec R, Taylor S, Mills KI, Savage KI, Smith CW, Boultwood J. Dolatshad H, et al. Leukemia. 2016 Dec;30(12):2322-2331. doi: 10.1038/leu.2016.149. Epub 2016 May 23. Leukemia. 2016. PMID: 27211273 Free PMC article.