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Unusual splice site mutations disrupt FANCA exon 8 definition.
Mattioli C, Pianigiani G, De Rocco D, Bianco AM, Cappelli E, Savoia A, Pagani F. Mattioli C, et al. Among authors: pagani f. Biochim Biophys Acta. 2014 Jul;1842(7):1052-8. doi: 10.1016/j.bbadis.2014.03.014. Epub 2014 Apr 1. Biochim Biophys Acta. 2014. PMID: 24704046 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: 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 …
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.
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.
846 results