408 related articles for article (PubMed ID: 12913074)
1. 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]
2. 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]
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. 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]
5. Evidence for the function of an exonic splicing enhancer after the first catalytic step of pre-mRNA splicing.
Chew SL; Liu HX; Mayeda A; Krainer AR
Proc Natl Acad Sci U S A; 1999 Sep; 96(19):10655-60. PubMed ID: 10485881
[TBL] [Abstract][Full Text] [Related]
6. Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.
Nissim-Rafinia M; Chiba-Falek O; Sharon G; Boss A; Kerem B
Hum Mol Genet; 2000 Jul; 9(12):1771-8. PubMed ID: 10915765
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing.
Mansfield SG; Kole J; Puttaraju M; Yang CC; Garcia-Blanco MA; Cohn JA; Mitchell LG
Gene Ther; 2000 Nov; 7(22):1885-95. PubMed ID: 11127576
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.
Heintz C; Dobrowolski SF; Andersen HS; Demirkol M; Blau N; Andresen BS
Mol Genet Metab; 2012 Aug; 106(4):403-11. PubMed ID: 22698810
[TBL] [Abstract][Full Text] [Related]
11. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Tra2 beta, SF2/ASF and SRp30c modulate the function of an exonic splicing enhancer in exon 10 of tau pre-mRNA.
Kondo S; Yamamoto N; Murakami T; Okumura M; Mayeda A; Imaizumi K
Genes Cells; 2004 Feb; 9(2):121-30. PubMed ID: 15009090
[TBL] [Abstract][Full Text] [Related]
14. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
15. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
Igreja S; Clarke LA; Botelho HM; Marques L; Amaral MD
Hum Mutat; 2016 Feb; 37(2):209-15. PubMed ID: 26553470
[TBL] [Abstract][Full Text] [Related]
16. Mapping the SF2/ASF binding sites in the bovine growth hormone exonic splicing enhancer.
Dirksen WP; Li X; Mayeda A; Krainer AR; Rottman FM
J Biol Chem; 2000 Sep; 275(37):29170-7. PubMed ID: 10880506
[TBL] [Abstract][Full Text] [Related]
17. Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon.
Spena S; Tenchini ML; Buratti E
RNA; 2006 Jun; 12(6):948-58. PubMed ID: 16611940
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.
Jiang Z; Tang H; Havlioglu N; Zhang X; Stamm S; Yan R; Wu JY
J Biol Chem; 2003 May; 278(21):18997-9007. PubMed ID: 12649279
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
