BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 8279470)

  • 1. A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.
    Hagiwara Y; Nishio H; Kitoh Y; Takeshima Y; Narita N; Wada H; Yokoyama M; Nakamura H; Matsuo M
    Am J Hum Genet; 1994 Jan; 54(1):53-61. PubMed ID: 8279470
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD; Johnsen RD; Pedretti JR; Laing NG
    Am J Med Genet; 1993 Jun; 46(5):563-9. PubMed ID: 8322822
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M; Takeshima Y; Wada H; Nakamura H; Matsuo M
    Hum Genet; 2003 Feb; 112(2):164-70. PubMed ID: 12522557
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.
    Wilton SD; Lloyd F; Carville K; Fletcher S; Honeyman K; Agrawal S; Kole R
    Neuromuscul Disord; 1999 Jul; 9(5):330-8. PubMed ID: 10407856
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.
    Ikezawa M; Nishino I; Goto Y; Miike T; Nonaka I
    Hum Mutat; 1999; 13(2):170. PubMed ID: 10094556
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD; Chandler DC; Kakulas BA; Laing NG
    Hum Mutat; 1994; 3(2):133-40. PubMed ID: 8199594
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel splice site mutation in a Becker muscular dystrophy patient.
    Bartolo C; Papp AC; Snyder PJ; Sedra MS; Burghes AH; Hall CD; Mendell JR; Prior TW
    J Med Genet; 1996 Apr; 33(4):324-7. PubMed ID: 8730289
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
    Winnard AV; Mendell JR; Prior TW; Florence J; Burghes AH
    Am J Hum Genet; 1995 Jan; 56(1):158-66. PubMed ID: 7825572
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
    Roest PA; Bout M; van der Tuijn AC; Ginjaar IB; Bakker E; Hogervorst FB; van Ommen GJ; den Dunnen JT
    J Med Genet; 1996 Nov; 33(11):935-9. PubMed ID: 8950674
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy.
    Adachi K; Takeshima Y; Wada H; Yagi M; Nakamura H; Matsuo M
    Pediatr Res; 2003 Jan; 53(1):125-31. PubMed ID: 12508091
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.
    Nishida A; Minegishi M; Takeuchi A; Awano H; Niba ET; Matsuo M
    Hum Genet; 2015 Sep; 134(9):993-1001. PubMed ID: 26152642
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.