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Items: 1 to 20 of 146

1.

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.

Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M.

J Hum Genet. 2013 Jan;58(1):33-9. doi: 10.1038/jhg.2012.131.

PMID:
23223008
2.

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.

Zhang Z, Takeshima Y, Awano H, Nishiyama A, Okizuka Y, Yagi M, Matsuo M.

J Hum Genet. 2008;53(3):215-9.

PMID:
18160999
3.

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J.

Am J Hum Genet. 2002 Sep;71(3):637-45.

4.
5.

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.

Madden HR, Fletcher S, Davis MR, Wilton SD.

Hum Mutat. 2009 Jan;30(1):22-8. doi: 10.1002/humu.20806.

PMID:
18570328
6.

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP.

Hum Genet. 2004 Jun;115(1):13-8.

PMID:
15118904
7.

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

Tuffery-Giraud S, Saquet C, Chambert S, Claustres M.

Hum Mutat. 2003 Jun;21(6):608-14.

PMID:
12754707
8.

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Baskin B, Gibson WT, Ray PN.

Neuromuscul Disord. 2011 Mar;21(3):178-82. doi: 10.1016/j.nmd.2010.11.008.

PMID:
21134752
9.

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. doi: 10.1007/s00439-015-1581-2.

PMID:
26152642
10.

Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

Hamed SA, Hoffman EP.

Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):44-50.

PMID:
16331671
11.

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ.

Hum Mol Genet. 2001 Jul 15;10(15):1547-54.

PMID:
11468272
12.

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.

Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP.

Hum Mutat. 2001 Mar;17(3):239. No abstract available. Erratum in: Hum Mutat 2001 Dec;18(6):552.

PMID:
11241855
13.

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

Tran VK, Zhang Z, Yagi M, Nishiyama A, Habara Y, Takeshima Y, Matsuo M.

J Hum Genet. 2005;50(8):425-33.

PMID:
16133659
14.

Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.

Kubokawa I, Takeshima Y, Ota M, Enomoto M, Okizuka Y, Mori T, Nishimura N, Awano H, Yagi M, Matsuo M.

Mol Vis. 2010 Dec 7;16:2590-7.

15.

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M.

J Hum Genet. 2010 Jun;55(6):379-88. doi: 10.1038/jhg.2010.49.

PMID:
20485447
16.

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC.

Neuromuscul Disord. 2002 Oct;12 Suppl 1:S71-7.

PMID:
12206800
17.

Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish.

Bolaños-Jiménez F, Bordais A, Behra M, Strähle U, Mornet D, Sahel J, Rendón A.

Gene. 2001 Aug 22;274(1-2):217-26.

PMID:
11675014
18.

Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene.

Rapaport D, Lederfein D, den Dunnen JT, Grootscholten PM, Van Ommen GJ, Fuchs O, Nudel U, Yaffe D.

Differentiation. 1992 Apr;49(3):187-93.

PMID:
1377655
19.

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.

PMID:
16627883
20.

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.

Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M.

Nat Commun. 2011;2:308. doi: 10.1038/ncomms1306.

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