Nature Genetics
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. 2019
Leukemia
IDH1-R132 CHANGES VARY ACCORDING TO NPM1 AND OTHER MUTATIONS STATUS IN AML
Falini B, Spinelli O, Meggendorfer M, Martelli MP, Bigerna B, Ascani S, Stein H, Rambaldi A, Haferlach T. (2019)
Leukemia
GATA1 epigenetic deregulation contributes to the development of AML with NPM1 and FLT3-ITD cooperating mutations
Sportoletti P, Celani L, Varasano E, Rossi R, Sorcini D, Rompietti C, Strozzini F, Del Papa B, Guarente V, Spinozzi G, Cecchini D, Bereshchenko O, Haferlach T, Martelli MP, Falzetti F, Falini B (2019).
Journal of Clinical Investigation
LEUKEMOGENIC NUCLEOPHOSMIN MUTATION DISRUPTS THE TRANSCRIPTION FACTOR HUB THAT REGULATES GRANULOMONOCYTIC FATES
Gu X, Ebrahem Q, Mahfouz RZ, Hasipek M, Enane F, Radivoyevitch T, Rapin N, Przychodzen B, Hu Z, Balusu R, Cotta CV, Wald D, Argueta C, Landesman Y, Martelli MP, Falini B, Carraway H, Porse BT, Maciejewski J, Jha BK, Saunthararajah Y. (2018)
Cancer Cell
Mutant NPM1 Maintains the Leukemic State through HOX Expression
Brunetti L, Gundry MC, Sorcini D, Guzman AG, Huang YH, Ramabadran R, Gionfriddo I, Mezzasoma F, Milano F, Nabet B, Buckley DL, Kornblau SM, Lin CY, Sportoletti P, Martelli MP, Falini B, Goodell MA(2018).
The New England Journal of Medicine
High-Risk-Colonal Hematopoiesis as the origin of AITL and NPM1-MUTATED AML
Tiacci E, Venanzi A, Ascani S, Marra A, Cardinali V, Martino G, Codoni V, Schiavoni G, Martelli MP, Falini B (2018).