298 related articles for article (PubMed ID: 20120036)
1. 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]
2. Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Palhais B; Præstegaard VS; Sabaratnam R; Doktor TK; Lutz S; Burda P; Suormala T; Baumgartner M; Fowler B; Bruun GH; Andersen HS; Kožich V; Andresen BS
Nucleic Acids Res; 2015 May; 43(9):4627-39. PubMed ID: 25878036
[TBL] [Abstract][Full Text] [Related]
3. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
Davis RL; Homer VM; George PM; Brennan SO
Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
[TBL] [Abstract][Full Text] [Related]
4. Deeper understanding of unclassified intronic variants and ESEs.
Rogan PK
Hum Mutat; 2010 Apr; 31(4):V. PubMed ID: 20358580
[No Abstract] [Full Text] [Related]
5. 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]
6. The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Palhais B; Dembic M; Sabaratnam R; Nielsen KS; Doktor TK; Bruun GH; Andresen BS
Mol Genet Metab; 2016 Nov; 119(3):258-269. PubMed ID: 27595546
[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. Alternative splicing of CD200 is regulated by an exonic splicing enhancer and SF2/ASF.
Chen Z; Ma X; Zhang J; Hu J; Gorczynski RM
Nucleic Acids Res; 2010 Oct; 38(19):6684-96. PubMed ID: 20558599
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. SF2/ASF binds to a splicing enhancer in the third HIV-1 tat exon and stimulates U2AF binding independently of the RS domain.
Tange TØ; Kjems J
J Mol Biol; 2001 Sep; 312(4):649-62. PubMed ID: 11575921
[TBL] [Abstract][Full Text] [Related]
11. Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.
Petersen USS; Doktor TK; Andresen BS
Hum Mutat; 2022 Feb; 43(2):103-127. PubMed ID: 34837434
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. The CD44 alternative v9 exon contains a splicing enhancer responsive to the SR proteins 9G8, ASF/SF2, and SRp20.
Galiana-Arnoux D; Lejeune F; Gesnel MC; Stevenin J; Breathnach R; Del Gatto-Konczak F
J Biol Chem; 2003 Aug; 278(35):32943-53. PubMed ID: 12826680
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Novel exploitation of a nuclear function by influenza virus: the cellular SF2/ASF splicing factor controls the amount of the essential viral M2 ion channel protein in infected cells.
Shih SR; Krug RM
EMBO J; 1996 Oct; 15(19):5415-27. PubMed ID: 8895585
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A bidirectional SF2/ASF- and SRp40-dependent splicing enhancer regulates human immunodeficiency virus type 1 rev, env, vpu, and nef gene expression.
Caputi M; Freund M; Kammler S; Asang C; Schaal H
J Virol; 2004 Jun; 78(12):6517-26. PubMed ID: 15163745
[TBL] [Abstract][Full Text] [Related]
18. SR proteins Asf/SF2 and 9G8 interact to activate enhancer-dependent intron D splicing of bovine growth hormone pre-mRNA in vitro.
Li X; Shambaugh ME; Rottman FM; Bokar JA
RNA; 2000 Dec; 6(12):1847-58. PubMed ID: 11142383
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
