314 related articles for article (PubMed ID: 12736738)
1. Analysis of dystrophin mRNA from skeletal muscle but not from lymphocytes led to identification of a novel nonsense mutation in a carrier of Duchenne muscular dystrophy.
Ito T; Takeshima Y; Yagi M; Kamei S; Wada H; Nakamura H; Matsuo M
J Neurol; 2003 May; 250(5):581-7. PubMed ID: 12736738
[TBL] [Abstract][Full Text] [Related]
2. A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy.
Kimura S; Ito K; Miyagi T; Hiranuma T; Yoshioka K; Ozasa S; Matsukura M; Ikezawa M; Matsuo M; Takeshima Y; Miike T
Brain Dev; 2005 Sep; 27(6):400-5. PubMed ID: 16122626
[TBL] [Abstract][Full Text] [Related]
3. C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene.
Suminaga R; Takeshima Y; Wada H; Yagi M; Matsuo M
Pediatr Res; 2004 Nov; 56(5):739-43. PubMed ID: 15371569
[TBL] [Abstract][Full Text] [Related]
4. [Detection of micro mutation in dystrophin gene of DMD female carrier].
Miyamoto A; Taguchi K; Hieda S; Kawamura M; Fukuchi K; Gomi K
Rinsho Byori; 2004 Jun; 52(6):493-9. PubMed ID: 15283161
[TBL] [Abstract][Full Text] [Related]
5. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Deburgrave N; Daoud F; Llense S; Barbot JC; Récan D; Peccate C; Burghes AH; Béroud C; Garcia L; Kaplan JC; Chelly J; Leturcq F
Hum Mutat; 2007 Feb; 28(2):183-95. PubMed ID: 17041906
[TBL] [Abstract][Full Text] [Related]
6. Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.
Schloesser M; Slomski R; Wagner M; Reiss J; Berg LP; Kakkar VV; Cooper DN
Mol Biol Med; 1990 Dec; 7(6):519-23. PubMed ID: 1706453
[TBL] [Abstract][Full Text] [Related]
7. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.
Wagner KR; Hamed S; Hadley DW; Gropman AL; Burstein AH; Escolar DM; Hoffman EP; Fischbeck KH
Ann Neurol; 2001 Jun; 49(6):706-11. PubMed ID: 11409421
[TBL] [Abstract][Full Text] [Related]
8. Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy.
Takeshima Y; Yagi M; Wada H; Ishibashi K; Nishiyama A; Kakumoto M; Sakaeda T; Saura R; Okumura K; Matsuo M
Pediatr Res; 2006 May; 59(5):690-4. PubMed ID: 16627883
[TBL] [Abstract][Full Text] [Related]
9. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
Baskin B; Banwell B; Khater RA; Hawkins C; Ray PN
Neuromuscul Disord; 2009 Mar; 19(3):189-92. PubMed ID: 19230662
[TBL] [Abstract][Full Text] [Related]
10. The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
Tuffery-Giraud S; Saquet C; Chambert S; Echenne B; Marie Cuisset J; Rivier F; Cossée M; Philippe C; Monnier N; Bieth E; Recan D; Antoinette Voelckel M; Perelman S; Lambert JC; Malcolm S; Claustres M
Neuromuscul Disord; 2004 Oct; 14(10):650-8. PubMed ID: 15351422
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J; Vondrácek P; Hermanová M; Zámecník J; Hrubá Z; Haberlová J; Kraus J; Maríková T; Hedvicáková P; Vohánka S; Fajkusová L
Neuromuscul Disord; 2009 Nov; 19(11):749-53. PubMed ID: 19783145
[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. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy.
Hoogerwaard EM; Ginjaar IB; Bakker E; de Visser M
Neurology; 2005 Dec; 65(12):1984-6. PubMed ID: 16380627
[TBL] [Abstract][Full Text] [Related]
15. DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
Hamed S; Sutherland-Smith A; Gorospe J; Kendrick-Jones J; Hoffman E
Clin Genet; 2005 Jul; 68(1):69-79. PubMed ID: 15952989
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.
Surono A; Van Khanh T; Takeshima Y; Wada H; Yagi M; Takagi M; Koizumi M; Matsuo M
Hum Gene Ther; 2004 Aug; 15(8):749-57. PubMed ID: 15319032
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.
Tran VK; Takeshima Y; Zhang Z; Habara Y; Haginoya K; Nishiyama A; Yagi M; Matsuo M
Hum Genet; 2007 Jan; 120(5):737-42. PubMed ID: 17024373
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]