Splicing Modulation as a Modifier of the CFTR Function
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Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-540-34449-0_10.pdf
Reference69 articles.
1. Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vasquez C, Perez-Frias J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dork T, Tummler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Ferec C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J (2001) Cystic fibrosis patients with the 3272-26A>G splicing muta-tion have milder disease than F508del homozygotes: a large European study. J Med Genet 38: 777-783
2. Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet 9: 237-247
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4. Aznarez I, Chan EM, Zielenski J, Blencowe BJ, Tsui LC (2003) Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryp-tic splice sites in exon 13 of the cystic fibrosis transmembrane conductance reg-ulator gene. Hum Mol Genet 12: 2031-2040
5. Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD (1999) Cystic fibrosis patients with the 3272-26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane. Hum Mutat 14: 133-144
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3. Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells;Nucleic Acids Research;2020-06-10
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