409 related articles for article (PubMed ID: 12913074)
21. A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.
Costantino L; Claut L; Paracchini V; Coviello DA; Colombo C; Porcaro L; Capasso P; Zanardelli M; Pizzamiglio G; Degiorgio D; Seia M
J Cyst Fibros; 2010 Dec; 9(6):411-8. PubMed ID: 20875776
[TBL] [Abstract][Full Text] [Related]
22. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
Scott A; Petrykowska HM; Hefferon T; Gotea V; Elnitski L
J Cyst Fibros; 2012 Dec; 11(6):511-7. PubMed ID: 22591852
[TBL] [Abstract][Full Text] [Related]
23. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Fernandez Alanis E; Pinotti M; Dal Mas A; Balestra D; Cavallari N; Rogalska ME; Bernardi F; Pagani F
Hum Mol Genet; 2012 Jun; 21(11):2389-98. PubMed ID: 22362925
[TBL] [Abstract][Full Text] [Related]
24. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Soukarieh O; Gaildrat P; Hamieh M; Drouet A; Baert-Desurmont S; Frébourg T; Tosi M; Martins A
PLoS Genet; 2016 Jan; 12(1):e1005756. PubMed ID: 26761715
[TBL] [Abstract][Full Text] [Related]
25. Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.
Hayakawa M; Sakashita E; Ueno E; Tominaga S; Hamamoto T; Kagawa Y; Endo H
J Biol Chem; 2002 Mar; 277(9):6974-84. PubMed ID: 11744705
[TBL] [Abstract][Full Text] [Related]
26. Exonic splicing enhancers contribute to the use of both 3' and 5' splice site usage of rat beta-tropomyosin pre-mRNA.
Selvakumar M; Helfman DM
RNA; 1999 Mar; 5(3):378-94. PubMed ID: 10094307
[TBL] [Abstract][Full Text] [Related]
27. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
Claverie-Martin F; Gonzalez-Paredes FJ; Ramos-Trujillo E
RNA Biol; 2015; 12(4):369-74. PubMed ID: 25757501
[TBL] [Abstract][Full Text] [Related]
28. Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.
Hefferon TW; Broackes-Carter FC; Harris A; Cutting GR
Am J Hum Genet; 2002 Aug; 71(2):294-303. PubMed ID: 12068373
[TBL] [Abstract][Full Text] [Related]
29. General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer.
Sun Q; Mayeda A; Hampson RK; Krainer AR; Rottman FM
Genes Dev; 1993 Dec; 7(12B):2598-608. PubMed ID: 8276242
[TBL] [Abstract][Full Text] [Related]
30. Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55.
Nagel RJ; Lancaster AM; Zahler AM
RNA; 1998 Jan; 4(1):11-23. PubMed ID: 9436904
[TBL] [Abstract][Full Text] [Related]
31. PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer.
Wang E; Huang Z; Hobson GM; Dimova N; Sperle K; McCullough A; Cambi F
J Cell Biochem; 2006 Apr; 97(5):999-1016. PubMed ID: 16288477
[TBL] [Abstract][Full Text] [Related]
32. Deletion of the N-terminus of SF2/ASF permits RS-domain-independent pre-mRNA splicing.
Shaw SD; Chakrabarti S; Ghosh G; Krainer AR
PLoS One; 2007 Sep; 2(9):e854. PubMed ID: 17786225
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. The effect of disease-associated HRPT2 mutations on splicing.
Hahn MA; McDonnell J; Marsh DJ
J Endocrinol; 2009 Jun; 201(3):387-96. PubMed ID: 19332451
[TBL] [Abstract][Full Text] [Related]
35. Exonic splicing enhancer-dependent selection of the bovine papillomavirus type 1 nucleotide 3225 3' splice site can be rescued in a cell lacking splicing factor ASF/SF2 through activation of the phosphatidylinositol 3-kinase/Akt pathway.
Liu X; Mayeda A; Tao M; Zheng ZM
J Virol; 2003 Feb; 77(3):2105-15. PubMed ID: 12525645
[TBL] [Abstract][Full Text] [Related]
36. Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K.
D'Souza I; Schellenberg GD
J Biol Chem; 2006 Feb; 281(5):2460-9. PubMed ID: 16308321
[TBL] [Abstract][Full Text] [Related]
37. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J
J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993
[TBL] [Abstract][Full Text] [Related]
38. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.
Aissat A; de Becdelièvre A; Golmard L; Vasseur C; Costa C; Chaoui A; Martin N; Costes B; Goossens M; Girodon E; Fanen P; Hinzpeter A
Hum Mutat; 2013 Jun; 34(6):873-81. PubMed ID: 23420618
[TBL] [Abstract][Full Text] [Related]
39. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
[TBL] [Abstract][Full Text] [Related]
40. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Zielenski J; Bozon D; Kerem B; Markiewicz D; Durie P; Rommens JM; Tsui LC
Genomics; 1991 May; 10(1):229-35. PubMed ID: 1710599
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]