Literature DB >> 9199582

Up-regulation of the brain and Purkinje-cell forms of dystrophin transcripts, in Becker muscular dystrophy.

A Nakamura, S Ikeda, M Yazaki, K Yoshida, O Kobayashi, N Yanagisawa, S Takeda.   

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Year:  1997        PMID： 9199582      PMCID： PMC1716124     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  X-linked dilated cardiomyopathy.

Authors:  B A Berko; M Swift
Journal:  N Engl J Med       Date:  1987-05-07       Impact factor: 91.245

2.  Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene.

Authors:  H J Klamut; L O Bosnoyan-Collins; R G Worton; P N Ray; H L Davis
Journal:  Hum Mol Genet       Date:  1996-10       Impact factor: 6.150

3.  X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene.

Authors:  W M Franz; M Cremer; R Herrmann; E Grünig; W Fogel; T Scheffold; H H Goebel; R Kircheisen; W Kübler; T Voit
Journal:  Ann N Y Acad Sci       Date:  1995-03-27       Impact factor: 5.691

4.  Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

Authors:  F Muntoni; M Cau; A Ganau; R Congiu; G Arvedi; A Mateddu; M G Marrosu; C Cianchetti; G Realdi; A Cao
Journal:  N Engl J Med       Date:  1993-09-23       Impact factor: 91.245

5.  A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.

Authors:  H Sakuraba; K Ishii; M Shimmoto; H Yamada; Y Suzuki
Journal:  Brain Dev       Date:  1991-09       Impact factor: 1.961

6.  Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy.

Authors:  K Yoshida; S Ikeda; A Nakamura; M Kagoshima; S Takeda; S Shoji; N Yanagisawa
Journal:  Muscle Nerve       Date:  1993-11       Impact factor: 3.217

7.  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

Review 8.  Dilated cardiomyopathy and the dystrophin gene: an illustrated review.

Authors:  A Oldfors; B O Eriksson; M Kyllerman; T Martinsson; J Wahlström
Journal:  Br Heart J       Date:  1994-10

9.  X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

Authors:  J A Towbin; J F Hejtmancik; P Brink; B Gelb; X M Zhu; J S Chamberlain; E R McCabe; M Swift
Journal:  Circulation       Date:  1993-06       Impact factor: 29.690

10.  A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.

Authors:  J Milasin; F Muntoni; G M Severini; L Bartoloni; M Vatta; M Krajinovic; A Mateddu; C Angelini; F Camerini; A Falaschi; L Mestroni; M Giacca
Journal:  Hum Mol Genet       Date:  1996-01       Impact factor: 6.150
  10 in total
  5 in total

Review 1.  Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.

Authors:  N Cohen; F Muntoni
Journal:  Heart       Date:  2004-08       Impact factor: 5.994

2.  The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Authors:  Marcella Neri; Emanuele Valli; Giovanna Alfano; Matteo Bovolenta; Pietro Spitali; Claudio Rapezzi; Francesco Muntoni; Sandro Banfi; Giovanni Perini; Francesca Gualandi; Alessandra Ferlini
Journal:  BMC Med Genet       Date:  2012-03-28       Impact factor: 2.103

3.  LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease: mutation detection bias and multiple mechanisms of target gene disruption.

Authors:  Jian-Min Chen; Claude Férec; David N Cooper
Journal:  J Biomed Biotechnol       Date:  2006

Review 4.  X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.

Authors:  Akinori Nakamura
Journal:  Pharmaceuticals (Basel)       Date:  2015-06-09

Review 5.  Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

Authors:  Jennifer England; Siobhan Loughna; Catrin Sian Rutland
Journal:  J Cardiovasc Dev Dis       Date:  2017-07-07
  5 in total

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