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First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis.
Crespiatico I, Zaghi M, Mastini C, D'Aliberti D, Mauri M, Mercado CM, Fontana D, Spinelli S, Crippa V, Inzoli E, Manghisi B, Civettini I, Ramazzotti D, Sangiorgio V, Gengotti M, Brambilla V, Aroldi A, Banfi F, Barone C, Orsenigo R, Riera L, Riminucci M, Corsi A, Breccia M, Morotti A, Cilloni D, Roccaro A, Sacco A, Stagno F, Serafini M, Mottadelli F, Cazzaniga G, Pagni F, Chiarle R, Azzoni E, Sessa A, Gambacorti-Passerini C, Elli EM, Mologni L, Piazza R. Crespiatico I, et al. Among authors: mauri m. Blood. 2024 Apr 4;143(14):1399-1413. doi: 10.1182/blood.2023021349. Blood. 2024. PMID: 38194688
SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Piazza R, Magistroni V, Redaelli S, Mauri M, Massimino L, Sessa A, Peronaci M, Lalowski M, Soliymani R, Mezzatesta C, Pirola A, Banfi F, Rubio A, Rea D, Stagno F, Usala E, Martino B, Campiotti L, Merli M, Passamonti F, Onida F, Morotti A, Pavesi F, Bregni M, Broccoli V, Baumann M, Gambacorti-Passerini C. Piazza R, et al. Among authors: mauri m. Nat Commun. 2018 Jun 6;9(1):2192. doi: 10.1038/s41467-018-04462-8. Nat Commun. 2018. PMID: 29875417 Free PMC article.
De novo UBE2A mutations are recurrently acquired during chronic myeloid leukemia progression and interfere with myeloid differentiation pathways.
Magistroni V, Mauri M, D'Aliberti D, Mezzatesta C, Crespiatico I, Nava M, Fontana D, Sharma N, Parker W, Schreiber A, Yeung D, Pirola A, Readelli S, Massimino L, Wang P, Khandelwal P, Citterio S, Viltadi M, Bombelli S, Rigolio R, Perego R, Boultwood J, Morotti A, Saglio G, Kim DW, Branford S, Gambacorti-Passerini C, Piazza R. Magistroni V, et al. Among authors: mauri m. Haematologica. 2019 Sep;104(9):1789-1797. doi: 10.3324/haematol.2017.179937. Epub 2019 Feb 28. Haematologica. 2019. PMID: 30819912 Free PMC article.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Saettini F, et al. Among authors: mauri m. Blood. 2021 Jan 28;137(4):493-499. doi: 10.1182/blood.2020006441. Blood. 2021. PMID: 32905580 Free PMC article.
ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine.
Fontana D, Mauri M, Renso R, Docci M, Crespiatico I, Røst LM, Jang M, Niro A, D'Aliberti D, Massimino L, Bertagna M, Zambrotta G, Bossi M, Citterio S, Crescenzi B, Fanelli F, Cassina V, Corti R, Salerno D, Nardo L, Chinello C, Mantegazza F, Mecucci C, Magni F, Cavaletti G, Bruheim P, Rea D, Larsen S, Gambacorti-Passerini C, Piazza R. Fontana D, et al. Among authors: mauri m. Nat Commun. 2020 Nov 23;11(1):5938. doi: 10.1038/s41467-020-19721-w. Nat Commun. 2020. PMID: 33230096 Free PMC article.
HIF1A: A Putative Modifier of Hemochromatosis.
Pelucchi S, Ravasi G, Arosio C, Mauri M, Piazza R, Mariani R, Piperno A. Pelucchi S, et al. Among authors: mauri m. Int J Mol Sci. 2021 Jan 27;22(3):1245. doi: 10.3390/ijms22031245. Int J Mol Sci. 2021. PMID: 33513852 Free PMC article.
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis.
Saettini F, Fazio G, Moratto D, Galbiati M, Zucchini N, Ippolito D, Dinelli ME, Imberti L, Mauri M, Melzi ML, Bonanomi S, Gerussi A, Pinelli M, Barisani C, Bugarin C, Chiarini M, Giacomelli M, Piazza R, Cazzaniga G, Invernizzi P, Giliani SC, Badolato R, Biondi A. Saettini F, et al. Among authors: mauri m. Front Immunol. 2021 Apr 16;12:673487. doi: 10.3389/fimmu.2021.673487. eCollection 2021. Front Immunol. 2021. PMID: 33936120 Free PMC article.
637 results