517 related articles for article (PubMed ID: 16738009)
1. Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.
Tran VK; Takeshima Y; Zhang Z; Yagi M; Nishiyama A; Habara Y; Matsuo M
J Med Genet; 2006 Dec; 43(12):924-30. PubMed ID: 16738009
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
[TBL] [Abstract][Full Text] [Related]
4. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
Shiga N; Takeshima Y; Sakamoto H; Inoue K; Yokota Y; Yokoyama M; Matsuo M
J Clin Invest; 1997 Nov; 100(9):2204-10. PubMed ID: 9410897
[TBL] [Abstract][Full Text] [Related]
5. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
[TBL] [Abstract][Full Text] [Related]
6. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
Patria SY; Alimsardjono H; Nishio H; Takeshima Y; Nakamura H; Matsuo M
Proc Assoc Am Physicians; 1996 Jul; 108(4):308-14. PubMed ID: 8863344
[TBL] [Abstract][Full Text] [Related]
7. A G-to-T transversion at the splice acceptor site of dystrophin exon 14 shows multiple splicing outcomes that are not exemplified by transition mutations.
Ota M; Takeshima Y; Nishida A; Awano H; Lee T; Yagi M; Matsuo M
Genet Test Mol Biomarkers; 2012 Jan; 16(1):3-8. PubMed ID: 21854195
[TBL] [Abstract][Full Text] [Related]
8. A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
Dwianingsih EK; Malueka RG; Nishida A; Itoh K; Lee T; Yagi M; Iijima K; Takeshima Y; Matsuo M
J Hum Genet; 2014 Aug; 59(8):423-9. PubMed ID: 24871807
[TBL] [Abstract][Full Text] [Related]
9. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.
Takeshima Y; Nishio H; Sakamoto H; Nakamura H; Matsuo M
J Clin Invest; 1995 Feb; 95(2):515-20. PubMed ID: 7860733
[TBL] [Abstract][Full Text] [Related]
10. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene.
Errington SJ; Mann CJ; Fletcher S; Wilton SD
J Gene Med; 2003 Jun; 5(6):518-27. PubMed ID: 12797117
[TBL] [Abstract][Full Text] [Related]
11. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
Narita N; Nishio H; Kitoh Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
J Clin Invest; 1993 May; 91(5):1862-7. PubMed ID: 8387534
[TBL] [Abstract][Full Text] [Related]
12. Intraperitoneal administration of phosphorothioate antisense oligodeoxynucleotide against splicing enhancer sequence induced exon skipping in dystrophin mRNA expressed in mdx skeletal muscle.
Takeshima Y; Yagi M; Wada H; Matsuo M
Brain Dev; 2005 Oct; 27(7):488-93. PubMed ID: 16198206
[TBL] [Abstract][Full Text] [Related]
13. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
[TBL] [Abstract][Full Text] [Related]
14. Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
Niba ETE; Nishida A; Tran VK; Vu DC; Matsumoto M; Awano H; Lee T; Takeshima Y; Nishio H; Matsuo M
J Hum Genet; 2017 Apr; 62(5):531-537. PubMed ID: 28100912
[TBL] [Abstract][Full Text] [Related]
15. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
[TBL] [Abstract][Full Text] [Related]
16. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
Lim BC; Lee S; Shin JY; Kim JI; Hwang H; Kim KJ; Hwang YS; Seo JS; Chae JH
J Med Genet; 2011 Nov; 48(11):731-6. PubMed ID: 21969337
[TBL] [Abstract][Full Text] [Related]
17. A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5.
Suminaga R; Takeshima Y; Adachi K; Yagi M; Nakamura H; Matsuo M
J Hum Genet; 2002; 47(4):196-201. PubMed ID: 12166656
[TBL] [Abstract][Full Text] [Related]
18. Efficient exon skipping by base-editor-mediated abrogation of exonic splicing enhancers.
Qiu H; Li G; Yuan J; Yang D; Ma Y; Wang F; Dai Y; Chang X
Cell Rep; 2023 Nov; 42(11):113340. PubMed ID: 37906593
[TBL] [Abstract][Full Text] [Related]
19. Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.
Zhu Y; Deng H; Chen X; Li H; Yang C; Li S; Pan X; Tian S; Feng S; Tan X; Matsuo M; Zhang Z
Hum Genet; 2019 Jul; 138(7):771-785. PubMed ID: 31168774
[TBL] [Abstract][Full Text] [Related]
20. Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.
Matsuo M; Masumura T; Nishio H; Nakajima T; Kitoh Y; Takumi T; Koga J; Nakamura H
J Clin Invest; 1991 Jun; 87(6):2127-31. PubMed ID: 2040695
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
