Pagani F - Search Results

1

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

Pagani F, Buratti E, Stuani C, Baralle FE. Pagani F, et al. J Biol Chem. 2003 Jul 18;278(29):26580-8. doi: 10.1074/jbc.M212813200. Epub 2003 May 5. J Biol Chem. 2003. PMID: 12732620 Free article.

2

A new type of mutation causes a splicing defect in ATM.

Pagani F, Buratti E, Stuani C, Bendix R, Dörk T, Baralle FE. Pagani F, et al. Nat Genet. 2002 Apr;30(4):426-9. doi: 10.1038/ng858. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889466

3

Promoter architecture modulates CFTR exon 9 skipping.

Pagani F, Stuani C, Zuccato E, Kornblihtt AR, Baralle FE. Pagani F, et al. J Biol Chem. 2003 Jan 17;278(3):1511-7. doi: 10.1074/jbc.M209676200. Epub 2002 Nov 5. J Biol Chem. 2003. PMID: 12421814 Free article.

4

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE. Pagani F, et al. Hum Mol Genet. 2003 May 15;12(10):1111-20. doi: 10.1093/hmg/ddg131. Hum Mol Genet. 2003. PMID: 12719375

5

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

Buratti E, Baralle FE, Pagani F. Buratti E, et al. Among authors: pagani f. Trends Mol Med. 2003 Jun;9(6):229-32; discussion 233-4. doi: 10.1016/s1471-4914(03)00072-8. Trends Mol Med. 2003. PMID: 12829008

6

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.

Zuccato E, Buratti E, Stuani C, Baralle FE, Pagani F. Zuccato E, et al. Among authors: pagani f. J Biol Chem. 2004 Apr 23;279(17):16980-8. doi: 10.1074/jbc.M313439200. Epub 2004 Feb 13. J Biol Chem. 2004. PMID: 14966131 Free article.

Two intronic elements, a polymorphic TGmTn locus at the end of intron 8 and an intronic splicing silencer in intron 9, regulate aberrant splicing of human cystic fibrosis transmembrane conductance regulator (CFTR) exon 9. Previous studies (Pagani, F., Buratti, E., S …

Two intronic elements, a polymorphic TGmTn locus at the end of intron 8 and an intronic splicing silencer in intron 9, regulate aberrant spl …

7

Genomic variants in exons and introns: identifying the splicing spoilers.

Pagani F, Baralle FE. Pagani F, et al. Nat Rev Genet. 2004 May;5(5):389-96. doi: 10.1038/nrg1327. Nat Rev Genet. 2004. PMID: 15168696 Review. No abstract available.

8

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

Pagani F, Raponi M, Baralle FE. Pagani F, et al. Proc Natl Acad Sci U S A. 2005 May 3;102(18):6368-72. doi: 10.1073/pnas.0502288102. Epub 2005 Apr 19. Proc Natl Acad Sci U S A. 2005. PMID: 15840711 Free PMC article.

9

TDP43 depletion rescues aberrant CFTR exon 9 skipping.

Ayala YM, Pagani F, Baralle FE. Ayala YM, et al. Among authors: pagani f. FEBS Lett. 2006 Feb 20;580(5):1339-44. doi: 10.1016/j.febslet.2006.01.052. Epub 2006 Jan 26. FEBS Lett. 2006. PMID: 16458894 Free article.

10

Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.

Raponi M, Baralle FE, Pagani F. Raponi M, et al. Among authors: pagani f. Nucleic Acids Res. 2007;35(2):606-13. doi: 10.1093/nar/gkl1087. Epub 2006 Dec 15. Nucleic Acids Res. 2007. PMID: 17172597 Free PMC article.

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