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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. 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.
Epigenetic loss of RNA-methyltransferase NSUN5 in glioma targets ribosomes to drive a stress adaptive translational program.
Janin M, Ortiz-Barahona V, de Moura MC, Martínez-Cardús A, Llinàs-Arias P, Soler M, Nachmani D, Pelletier J, Schumann U, Calleja-Cervantes ME, Moran S, Guil S, Bueno-Costa A, Piñeyro D, Perez-Salvia M, Rosselló-Tortella M, Piqué L, Bech-Serra JJ, De La Torre C, Vidal A, Martínez-Iniesta M, Martín-Tejera JF, Villanueva A, Arias A, Cuartas I, Aransay AM, La Madrid AM, Carcaboso AM, Santa-Maria V, Mora J, Fernandez AF, Fraga MF, Aldecoa I, Pedrosa L, Graus F, Vidal N, Martínez-Soler F, Tortosa A, Carrato C, Balañá C, Boudreau MW, Hergenrother PJ, Kötter P, Entian KD, Hench J, Frank S, Mansouri S, Zadeh G, Dans PD, Orozco M, Thomas G, Blanco S, Seoane J, Preiss T, Pandolfi PP, Esteller M. Janin M, et al. Among authors: nachmani d. Acta Neuropathol. 2019 Dec;138(6):1053-1074. doi: 10.1007/s00401-019-02062-4. Epub 2019 Aug 19. Acta Neuropathol. 2019. PMID: 31428936 Free PMC article.
MiRNA-mediated control of HLA-G expression and function.
Manaster I, Goldman-Wohl D, Greenfield C, Nachmani D, Tsukerman P, Hamani Y, Yagel S, Mandelboim O. Manaster I, et al. Among authors: nachmani d. PLoS One. 2012;7(3):e33395. doi: 10.1371/journal.pone.0033395. Epub 2012 Mar 16. PLoS One. 2012. PMID: 22438923 Free PMC article.
MiR-10b downregulates the stress-induced cell surface molecule MICB, a critical ligand for cancer cell recognition by natural killer cells.
Tsukerman P, Stern-Ginossar N, Gur C, Glasner A, Nachmani D, Bauman Y, Yamin R, Vitenshtein A, Stanietsky N, Bar-Mag T, Lankry D, Mandelboim O. Tsukerman P, et al. Among authors: nachmani d. Cancer Res. 2012 Nov 1;72(21):5463-72. doi: 10.1158/0008-5472.CAN-11-2671. Epub 2012 Aug 21. Cancer Res. 2012. PMID: 22915757
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