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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. Among authors: stuani c. Nat Genet. 2002 Apr;30(4):426-9. doi: 10.1038/ng858. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889466
Promoter architecture modulates CFTR exon 9 skipping.
Pagani F, Stuani C, Zuccato E, Kornblihtt AR, Baralle FE. Pagani F, et al. Among authors: stuani c. 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.
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: stuani c. 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., Stuani, …
Two intronic elements, a polymorphic TGmTn locus at the end of intron 8 and an intronic splicing silencer in intron 9, regulate aberrant spl …
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: stuani c. 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.
45 results