Pagani F - Search Results

1

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.

Crotti L, Lewandowska MA, Schwartz PJ, Insolia R, Pedrazzini M, Bussani E, Dagradi F, George AL Jr, Pagani F. Crotti L, et al. Among authors: pagani f. Heart Rhythm. 2009 Feb;6(2):212-8. doi: 10.1016/j.hrthm.2008.10.044. Epub 2008 Nov 6. Heart Rhythm. 2009. PMID: 19187913

2

An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.

Pastor T, Talotti G, Lewandowska MA, Pagani F. Pastor T, et al. Among authors: pagani f. Nucleic Acids Res. 2009 Nov;37(21):7258-67. doi: 10.1093/nar/gkp778. Nucleic Acids Res. 2009. PMID: 19773425 Free PMC article.

3

Functional studies on the ATM intronic splicing processing element.

Lewandowska MA, Stuani C, Parvizpur A, Baralle FE, Pagani F. Lewandowska MA, et al. Among authors: pagani f. Nucleic Acids Res. 2005 Jul 19;33(13):4007-15. doi: 10.1093/nar/gki710. Print 2005. Nucleic Acids Res. 2005. PMID: 16030351 Free PMC article.

4

Intron cleavage affects processing of alternatively spliced transcripts.

Pastor T, Dal Mas A, Talotti G, Bussani E, Pagani F. Pastor T, et al. Among authors: pagani f. RNA. 2011 Aug;17(8):1604-13. doi: 10.1261/rna.2514811. Epub 2011 Jun 14. RNA. 2011. PMID: 21673105 Free PMC article.

5

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

Dal Mas A, Rogalska ME, Bussani E, Pagani F. Dal Mas A, et al. Among authors: pagani f. Am J Hum Genet. 2015 Jan 8;96(1):93-103. doi: 10.1016/j.ajhg.2014.12.009. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557785 Free PMC article.

6

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

Tajnik M, Rogalska ME, Bussani E, Barbon E, Balestra D, Pinotti M, Pagani F. Tajnik M, et al. Among authors: pagani f. PLoS Genet. 2016 May 26;12(5):e1006082. doi: 10.1371/journal.pgen.1006082. eCollection 2016 May. PLoS Genet. 2016. PMID: 27227676 Free PMC article.

7

Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.

Baralle M, Pastor T, Bussani E, Pagani F. Baralle M, et al. Among authors: pagani f. Am J Hum Genet. 2008 Jul;83(1):77-88. doi: 10.1016/j.ajhg.2008.06.018. Am J Hum Genet. 2008. PMID: 18597733 Free PMC article.

8

Detection of a rare CDKN2A intronic mutation in a Hungarian melanoma-prone family and its role in splicing regulation.

Balogh K, Széll M, Polyánka H, Pagani F, Bussani E, Kemény L, Oláh J. Balogh K, et al. Among authors: pagani f. Br J Dermatol. 2012 Jul;167(1):131-3. doi: 10.1111/j.1365-2133.2012.10864.x. Epub 2012 May 18. Br J Dermatol. 2012. PMID: 22292911

9

Therapeutic activity of modified U1 core spliceosomal particles.

Rogalska ME, Tajnik M, Licastro D, Bussani E, Camparini L, Mattioli C, Pagani F. Rogalska ME, et al. Among authors: pagani f. Nat Commun. 2016 Apr 4;7:11168. doi: 10.1038/ncomms11168. Nat Commun. 2016. PMID: 27041075 Free PMC article.

10

TMEM16A alternative splicing coordination in breast cancer.

Ubby I, Bussani E, Colonna A, Stacul G, Locatelli M, Scudieri P, Galietta L, Pagani F. Ubby I, et al. Among authors: pagani f. Mol Cancer. 2013 Jul 16;12:75. doi: 10.1186/1476-4598-12-75. Mol Cancer. 2013. PMID: 23866066 Free PMC article.

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