413 related articles for article (PubMed ID: 8387534)
1. 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]
2. 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]
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. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
Nishio H; Takeshima Y; Narita N; Yanagawa H; Suzuki Y; Ishikawa Y; Ishikawa Y; Minami R; Nakamura H; Matsuo M
J Clin Invest; 1994 Sep; 94(3):1037-42. PubMed ID: 8083345
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution.
Dwi Pramono ZA; Takeshima Y; Surono A; Ishida T; Matsuo M
Biochem Biophys Res Commun; 2000 Jan; 267(1):321-8. PubMed ID: 10623618
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion.
Holmes SE; Dombroski BA; Krebs CM; Boehm CD; Kazazian HH
Nat Genet; 1994 Jun; 7(2):143-8. PubMed ID: 7920631
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.
Musova Z; Hedvicakova P; Mohrmann M; Tesarova M; Krepelova A; Zeman J; Sedlacek Z
Biochem Biophys Res Commun; 2006 Aug; 347(1):145-9. PubMed ID: 16808900
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
Ginjaar IB; Kneppers AL; v d Meulen JD; Anderson LV; Bremmer-Bout M; van Deutekom JC; Weegenaar J; den Dunnen JT; Bakker E
Eur J Hum Genet; 2000 Oct; 8(10):793-6. PubMed ID: 11039581
[TBL] [Abstract][Full Text] [Related]
16. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Prior TW; Papp AC; Snyder PJ; Burghes AH; Bartolo C; Sedra MS; Western LM; Mendell JR
Nat Genet; 1993 Aug; 4(4):357-60. PubMed ID: 8401582
[TBL] [Abstract][Full Text] [Related]
17. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Tuffery S; Lenk U; Roberts RG; Coubes C; Demaille J; Claustres M
Hum Mutat; 1995; 6(2):126-35. PubMed ID: 7581396
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Southern blot and PCR analyses of dystrophin gene deletions in Japanese patients with Duchenne muscular dystrophy.
Nakajima T; Matsuo M; Nakamura H; Fujiwara Y
Kobe J Med Sci; 1991 Feb; 37(1):21-33. PubMed ID: 1921260
[TBL] [Abstract][Full Text] [Related]
20. [Cloning and sequencing of junction fragment with exon 51 deletion of Dystrophin gene].
Pan SY; Zhang C; Liu ZL; Chen GJ; Lu XL
Yi Chuan Xue Bao; 2002 Feb; 29(2):105-10. PubMed ID: 11901990
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
