213 related articles for article (PubMed ID: 12732620)
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
J Biol Chem; 2003 Jul; 278(29):26580-8. PubMed ID: 12732620
[TBL] [Abstract][Full Text] [Related]
2. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
[TBL] [Abstract][Full Text] [Related]
3. 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
J Biol Chem; 2004 Apr; 279(17):16980-8. PubMed ID: 14966131
[TBL] [Abstract][Full Text] [Related]
4. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Aznarez I; Zielenski J; Rommens JM; Blencowe BJ; Tsui LC
J Med Genet; 2007 May; 44(5):341-6. PubMed ID: 17475917
[TBL] [Abstract][Full Text] [Related]
5. Alternative splicing of in-frame exon associated with premature termination codons: implications for readthrough therapies.
Hinzpeter A; Aissat A; de Becdelièvre A; Bieth E; Sondo E; Martin N; Costes B; Costa C; Goossens M; Galietta LJ; Girodon E; Fanen P
Hum Mutat; 2013 Feb; 34(2):287-91. PubMed ID: 23065710
[TBL] [Abstract][Full Text] [Related]
6. 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
Hum Mol Genet; 2003 May; 12(10):1111-20. PubMed ID: 12719375
[TBL] [Abstract][Full Text] [Related]
7. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.
Pagani F; Buratti E; Stuani C; Romano M; Zuccato E; Niksic M; Giglio L; Faraguna D; Baralle FE
J Biol Chem; 2000 Jul; 275(28):21041-7. PubMed ID: 10766763
[TBL] [Abstract][Full Text] [Related]
8. A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
Faa' V; Coiana A; Incani F; Costantino L; Cao A; Rosatelli MC
J Mol Diagn; 2010 May; 12(3):380-3. PubMed ID: 20190016
[TBL] [Abstract][Full Text] [Related]
9. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX; Cartegni L; Zhang MQ; Krainer AR
Nat Genet; 2001 Jan; 27(1):55-8. PubMed ID: 11137998
[TBL] [Abstract][Full Text] [Related]
10. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
11. An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.
Arrisi-Mercado P; Romano M; Muro AF; Baralle FE
J Biol Chem; 2004 Sep; 279(38):39331-9. PubMed ID: 15247216
[TBL] [Abstract][Full Text] [Related]
12. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
[TBL] [Abstract][Full Text] [Related]
13. Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.
Haque A; Buratti E; Baralle FE
Nucleic Acids Res; 2010 Jan; 38(2):647-59. PubMed ID: 19910374
[TBL] [Abstract][Full Text] [Related]
14. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB; Sørensen S; Cartegni L; Corydon TJ; Doktor TK; Schroeder LD; Reinert LS; Elpeleg O; Krainer AR; Gregersen N; Kjems J; Andresen BS
Am J Hum Genet; 2007 Mar; 80(3):416-32. PubMed ID: 17273963
[TBL] [Abstract][Full Text] [Related]
15. Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.
Sanz DJ; Hollywood JA; Scallan MF; Harrison PT
PLoS One; 2017; 12(9):e0184009. PubMed ID: 28863137
[TBL] [Abstract][Full Text] [Related]
16. An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.
Disset A; Bourgeois CF; Benmalek N; Claustres M; Stevenin J; Tuffery-Giraud S
Hum Mol Genet; 2006 Mar; 15(6):999-1013. PubMed ID: 16461336
[TBL] [Abstract][Full Text] [Related]
17. Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis.
Michaels WE; Pena-Rasgado C; Kotaria R; Bridges RJ; Hastings ML
Proc Natl Acad Sci U S A; 2022 Jan; 119(3):. PubMed ID: 35017302
[No Abstract] [Full Text] [Related]
18. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Faà V; Incani F; Meloni A; Corda D; Masala M; Baffico AM; Seia M; Cao A; Rosatelli MC
J Biol Chem; 2009 Oct; 284(44):30024-31. PubMed ID: 19759008
[TBL] [Abstract][Full Text] [Related]
19. Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.
Ramalho AS; Beck S; Penque D; Gonska T; Seydewitz HH; Mall M; Amaral MD
J Med Genet; 2003 Jul; 40(7):e88. PubMed ID: 12843337
[No Abstract] [Full Text] [Related]
20. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]