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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: darnell rb. 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.
CLIP identifies Nova-regulated RNA networks in the brain.
Ule J, Jensen KB, Ruggiu M, Mele A, Ule A, Darnell RB. Ule J, et al. Among authors: darnell rb. Science. 2003 Nov 14;302(5648):1212-5. doi: 10.1126/science.1090095. Science. 2003. PMID: 14615540
Nova regulates brain-specific splicing to shape the synapse.
Ule J, Ule A, Spencer J, Williams A, Hu JS, Cline M, Wang H, Clark T, Fraser C, Ruggiu M, Zeeberg BR, Kane D, Weinstein JN, Blume J, Darnell RB. Ule J, et al. Among authors: darnell rb. Nat Genet. 2005 Aug;37(8):844-52. doi: 10.1038/ng1610. Epub 2005 Jul 24. Nat Genet. 2005. PMID: 16041372
An RNA map predicting Nova-dependent splicing regulation.
Ule J, Stefani G, Mele A, Ruggiu M, Wang X, Taneri B, Gaasterland T, Blencowe BJ, Darnell RB. Ule J, et al. Among authors: darnell rb. Nature. 2006 Nov 30;444(7119):580-6. doi: 10.1038/nature05304. Epub 2006 Oct 25. Nature. 2006. PMID: 17065982
HITS-CLIP yields genome-wide insights into brain alternative RNA processing.
Licatalosi DD, Mele A, Fak JJ, Ule J, Kayikci M, Chi SW, Clark TA, Schweitzer AC, Blume JE, Wang X, Darnell JC, Darnell RB. Licatalosi DD, et al. Among authors: darnell jc, darnell rb. Nature. 2008 Nov 27;456(7221):464-9. doi: 10.1038/nature07488. Epub 2008 Nov 2. Nature. 2008. PMID: 18978773 Free PMC article.
Argonaute HITS-CLIP decodes microRNA-mRNA interaction maps.
Chi SW, Zang JB, Mele A, Darnell RB. Chi SW, et al. Among authors: darnell rb. Nature. 2009 Jul 23;460(7254):479-86. doi: 10.1038/nature08170. Epub 2009 Jun 17. Nature. 2009. PMID: 19536157 Free PMC article.
205 results