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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: martelli mp. 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.
Mutated nucleophosmin detects clonal multilineage involvement in acute myeloid leukemia: Impact on WHO classification.
Pasqualucci L, Liso A, Martelli MP, Bolli N, Pacini R, Tabarrini A, Carini M, Bigerna B, Pucciarini A, Mannucci R, Nicoletti I, Tiacci E, Meloni G, Specchia G, Cantore N, Di Raimondo F, Pileri S, Mecucci C, Mandelli F, Martelli MF, Falini B. Pasqualucci L, et al. Among authors: martelli mp, martelli mf. Blood. 2006 Dec 15;108(13):4146-55. doi: 10.1182/blood-2006-06-026716. Epub 2006 Aug 22. Blood. 2006. PMID: 16926285 Free article.
Born to be exported: COOH-terminal nuclear export signals of different strength ensure cytoplasmic accumulation of nucleophosmin leukemic mutants.
Bolli N, Nicoletti I, De Marco MF, Bigerna B, Pucciarini A, Mannucci R, Martelli MP, Liso A, Mecucci C, Fabbiano F, Martelli MF, Henderson BR, Falini B. Bolli N, et al. Among authors: martelli mp, martelli mf. Cancer Res. 2007 Jul 1;67(13):6230-7. doi: 10.1158/0008-5472.CAN-07-0273. Cancer Res. 2007. PMID: 17616680 Free article.
NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia.
Falini B, Mecucci C, Saglio G, Lo Coco F, Diverio D, Brown P, Pane F, Mancini M, Martelli MP, Pileri S, Haferlach T, Haferlach C, Schnittger S. Falini B, et al. Among authors: martelli mp. Haematologica. 2008 Mar;93(3):439-42. doi: 10.3324/haematol.12153. Epub 2008 Feb 11. Haematologica. 2008. PMID: 18268276 Free article.
Cytoplasmic mutated nucleophosmin is stable in primary leukemic cells and in a xenotransplant model of NPMc+ acute myeloid leukemia in SCID mice.
Falini B, Martelli MP, Mecucci C, Liso A, Bolli N, Bigerna B, Pucciarini A, Pileri S, Meloni G, Martelli MF, Haferlach T, Schnittger S. Falini B, et al. Among authors: martelli mp, martelli mf. Haematologica. 2008 May;93(5):775-9. doi: 10.3324/haematol.12225. Epub 2008 Mar 26. Haematologica. 2008. PMID: 18367491 Free article.
Multilineage dysplasia has no impact on biologic, clinicopathologic, and prognostic features of AML with mutated nucleophosmin (NPM1).
Falini B, Macijewski K, Weiss T, Bacher U, Schnittger S, Kern W, Kohlmann A, Klein HU, Vignetti M, Piciocchi A, Fazi P, Martelli MP, Vitale A, Pileri S, Miesner M, Santucci A, Haferlach C, Mandelli F, Haferlach T. Falini B, et al. Among authors: martelli mp. Blood. 2010 May 6;115(18):3776-86. doi: 10.1182/blood-2009-08-240457. Epub 2010 Mar 4. Blood. 2010. PMID: 20203266 Free article.
264 results