Literature DB >> 24990311

A commentary on a novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.

Yukitoshi Ishikawa1.   

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Year:  2014        PMID： 24990311     DOI： 10.1038/jhg.2014.49

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  9 in total

1.  Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient.

Authors:  Y Takeshima; H Wada; M Yagi; Y Ishikawa; Y Ishikawa; R Minami; H Nakamura; M Matsuo
Journal:  Brain Dev       Date:  2001-12       Impact factor: 1.961

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

Authors:  Yasuhiro Takeshima; Mariko Yagi; Yo Okizuka; Hiroyuki Awano; Zhujun Zhang; Yumiko Yamauchi; Hisahide Nishio; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2010-05-20       Impact factor: 3.172

3.  A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene.

Authors:  M Matsuo; T Masumura; T Nakajima; Y Kitoh; T Takumi; H Nishio; J Koga; H Nakamura
Journal:  Biochem Biophys Res Commun       Date:  1990-07-31       Impact factor: 3.575

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.

Authors:  N Shiga; Y Takeshima; H Sakamoto; K Inoue; Y Yokota; M Yokoyama; M Matsuo
Journal:  J Clin Invest       Date:  1997-11-01       Impact factor: 14.808

5.  Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe.

Authors:  M Matsuo; T Masumura; H Nishio; T Nakajima; Y Kitoh; T Takumi; J Koga; H Nakamura
Journal:  J Clin Invest       Date:  1991-06       Impact factor: 14.808

6.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

Review 7.  Duchenne/Becker muscular dystrophy: from molecular diagnosis to gene therapy.

Authors:  M Matsuo
Journal:  Brain Dev       Date:  1996 May-Jun       Impact factor: 1.961

8.  A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.

Authors:  Ery Kus Dwianingsih; Rusdy Ghazali Malueka; Atsushi Nishida; Kyoko Itoh; Tomoko Lee; Mariko Yagi; Kazumoto Iijima; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2014-05-29       Impact factor: 3.172

9.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736
  9 in total

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