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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/10/29 05:36:33」(JST)

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  • Spectrum of muscular dystrophies associated with sarcolemmal-protein genetic defects.
  • Nigro V1, Piluso G2.
  • Biochimica et biophysica acta.Biochim Biophys Acta.2015 Apr;1852(4):585-93. doi: 10.1016/j.bbadis.2014.07.023. Epub 2014 Jul 30.
  • Muscular dystrophies are heterogeneous genetic disorders that share progressive muscle wasting. This may generate partial impairment of motility as well as a dramatic and fatal course. Less than 30years ago, the identification of the genetic basis of Duchenne muscular dystrophy opened a new era. An
  • PMID 25086336
  • HSF1 functions as a transcription regulator for Dp71 expression.
  • Tan J1, Tan S, Zheng H, Liu M, Chen G, Zhang H, Wang K, Tan S, Zhou J, Xiao XZ.
  • Cell stress & chaperones.Cell Stress Chaperones.2015 Mar;20(2):371-9. doi: 10.1007/s12192-014-0558-8. Epub 2014 Nov 28.
  • Heat shock factor 1 (HSF1) is one of the most important transcriptional molecules in the heat shock process; however, HSF1 can also regulate the expression of other proteins. Dystrophin Dp71 is one of the most widely expressed isoforms of the dystrophin gene family. In our experiments, we showed for
  • PMID 25430510
  • Becker muscular dystrophy severity is linked to the structure of dystrophin.
  • Nicolas A1, Raguénès-Nicol C1, Ben Yaou R2, Ameziane-Le Hir S1, Chéron A1, Vié V3, Claustres M4, Leturcq F5, Delalande O1, Hubert JF1, Tuffery-Giraud S6, Giudice E1, Le Rumeur E7; French Network of Clinical Reference Centres for Neuromuscular Diseases (CORNEMUS).
  • Human molecular genetics.Hum Mol Genet.2015 Mar 1;24(5):1267-79. doi: 10.1093/hmg/ddu537. Epub 2014 Oct 27.
  • In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clin
  • PMID 25348330


  • Early pathogenesis of Duchenne muscular dystrophy modelled in patient-derived human induced pluripotent stem cells.
  • Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA
  • Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27


Dystrophinとは?goo Wikipedia (ウィキペディア) 。出典:Wikipedia(ウィキペディア)フリー百科事典。 Dystrophinとは - goo Wikipedia (ウィキペディア) gooトップ サイトマップ スタートページに設定 RSS ヘルプ メニューへスキップ 本文へ ...
The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD ...



拡張検索dystrophin-associated protein complex」「dystrophin-associated protein

dystrophin-associated protein complex」



dystrophin-associated protein」