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Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.
Cross NCP, Hoade Y, Tapper WJ, Carreno-Tarragona G, Fanelli T, Jawhar M, Naumann N, Pieniak I, Lübke J, Ali S, Bhuller K, Burgstaller S, Cargo C, Cavenagh J, Duncombe AS, Das-Gupta E, Evans P, Forsyth P, George P, Grimley C, Jack F, Munro L, Mehra V, Patel K, Rismani A, Sciuccati G, Thomas-Dewing R, Thornton P, Virchis A, Watt S, Wallis L, Whiteway A, Zegocki K, Bain BJ, Reiter A, Chase A. Cross NCP, et al. Leukemia. 2019 Feb;33(2):415-425. doi: 10.1038/s41375-018-0342-3. Epub 2018 Dec 20. Leukemia. 2019. PMID: 30573779 Free PMC article.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Stremenova Spegarova J, et al. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844. Blood. 2020. PMID: 32518946 Free 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. Among authors: cargo ca. 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.
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S. Poulter JA, et al. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. Blood. 2021. PMID: 33690815 Free PMC article.
42 results