Literature DB >> 8834255

Alternative splicing of dystrophin exon 4 in normal human muscle.

S Torelli1, F Muntoni.   

Abstract

The dystrophin gene is composed of at least 86 exons and the occurrence of several alternative splicing sites, mainly occurring in its 3' region, is a well recognised phenomenon. We have found that exon 4 can also be alternatively spliced in human skeletal and cardiac muscle.

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Year:  1996        PMID： 8834255     DOI： 10.1007/bf02267079

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  Binding sites involved in the interaction of actin with the N-terminal region of dystrophin.

Authors:  B A Levine; A J Moir; V B Patchell; S V Perry
Journal:  FEBS Lett       Date:  1992-02-17       Impact factor: 4.124

2.  Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development.

Authors:  R D Bies; S F Phelps; M D Cortez; R Roberts; C T Caskey; J S Chamberlain
Journal:  Nucleic Acids Res       Date:  1992-04-11       Impact factor: 16.971

3.  Direct retroviral-mediated transfer of a dystrophin minigene into mdx mouse muscle in vivo.

Authors:  M G Dunckley; D J Wells; F S Walsh; G Dickson
Journal:  Hum Mol Genet       Date:  1993-06       Impact factor: 6.150

4.  Deletions in the 5' region of dystrophin and resulting phenotypes.

Authors:  F Muntoni; P Gobbi; C Sewry; T Sherratt; J Taylor; S K Sandhu; S Abbs; R Roberts; S V Hodgson; M Bobrow
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

5.  Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.

Authors:  J A Rafael; Y Sunada; N M Cole; K P Campbell; J A Faulkner; J S Chamberlain
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

6.  Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.

Authors:  F Muntoni; M A Melis; A Ganau; V Dubowitz
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

Authors:  M Koenig; A H Beggs; M Moyer; S Scherpf; K Heindrich; T Bettecken; G Meng; C R Müller; M Lindlöf; H Kaariainen; A de la Chapellet; A Kiuru; M L Savontaus; H Gilgenkrantz; D Récan; J Chelly; J C Kaplan; A E Covone; N Archidiacono; G Romeo; S Liechti-Gailati; V Schneider; S Braga; H Moser; B T Darras; P Murphy; U Francke; J D Chen; G Morgan; M Denton; C R Greenberg; K Wrogemann; L A Blonden; M B van Paassen; G J van Ommen; L M Kunkel
Journal:  Am J Hum Genet       Date:  1989-10       Impact factor: 11.025

8.  Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

Authors:  S B Gangopadhyay; T G Sherratt; J Z Heckmatt; V Dubowitz; G Miller; M Shokeir; P N Ray; P N Strong; R G Worton
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

9.  Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus.

Authors:  C A Feener; M Koenig; L M Kunkel
Journal:  Nature       Date:  1989-04-06       Impact factor: 49.962

10.  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
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  4 in total

1.  Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.

Authors:  Zhujun Zhang; Yasuaki Habara; Atsushi Nishiyama; Yoshinobu Oyazato; Mariko Yagi; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2007-06-20       Impact factor: 3.172

2.  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.

Authors:  Atsushi Nishida; Maki Minegishi; Atsuko Takeuchi; Hiroyuki Awano; Emma Tabe Eko Niba; Masafumi Matsuo
Journal:  Hum Genet       Date:  2015-07-08       Impact factor: 4.132

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

Authors:  Van Khanh Tran; Zhujun Zhang; Mariko Yagi; Atsushi Nishiyama; Yasuaki Habara; Yasuhiro Takeshima; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2005-08-30       Impact factor: 3.172

Review 4.  Normal and altered pre-mRNA processing in the DMD gene.

Authors:  Sylvie Tuffery-Giraud; Julie Miro; Michel Koenig; Mireille Claustres
Journal:  Hum Genet       Date:  2017-06-09       Impact factor: 4.132
  4 in total

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