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Low U1 snRNP dependence at the NF1 exon 29 donor splice site.
Raponi M, Buratti E, Dassie E, Upadhyaya M, Baralle D. Raponi M, et al. Among authors: baralle d. FEBS J. 2009 Apr;276(7):2060-73. doi: 10.1111/j.1742-4658.2009.06941.x. FEBS J. 2009. PMID: 19292874 Free article.
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.
Raponi M, Buratti E, Llorian M, Stuani C, Smith CW, Baralle D. Raponi M, et al. Among authors: baralle d. FEBS J. 2008 Dec;275(24):6101-8. doi: 10.1111/j.1742-4658.2008.06734.x. Epub 2008 Nov 1. FEBS J. 2008. PMID: 19016857 Free article.
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutation [Raponi M, Upadhyaya M & Baralle D (2006) Hum Mutat 27, 294-295]. In this paper, we investigate which characteristics pl …
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutatio …
BRCA1 exon 11 a model of long exon splicing regulation.
Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D. Raponi M, et al. Among authors: baralle d. RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18. RNA Biol. 2014. PMID: 24658338 Free PMC article.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: baralle d. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
165 results