Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
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The importance of genetic diagnosis for Duchenne muscular dystrophyClinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD geneDMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsAge at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet.Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Revertant fibers in the mdx murine model of Duchenne muscular dystrophy: an age- and muscle-related reappraisal.DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.Forced expression of dystrophin deletion constructs reveals structure-function correlations.Transgenic mdx mice expressing dystrophin with a deletion in the actin-binding domain display a "mild Becker" phenotype.Extensive but coordinated reorganization of the membrane skeleton in myofibers of dystrophic (mdx) mice.Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion.Emerging drugs for Duchenne muscular dystrophyMutation types and aging differently affect revertant fiber expansion in dystrophic mdx and mdx52 mice.DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.Impaired regenerative capacity and lower revertant fibre expansion in dystrophin-deficient mdx muscles on DBA/2 background.Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large CohortTwo aberrant splicings caused by mutations in the insulin receptor gene in cultured lymphocytes from a patient with Rabson-Mendenhall's syndrome.Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect.Functional correction of dystrophin actin binding domain mutations by genome editing.Defects in RNA splicing and the consequence of shortened translational reading frames.Inhibition of antigen presentation during AAV gene therapy using virus peptides.Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype.CUGC for Duchenne muscular dystrophy (DMD).Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs.Clinical Utility Gene Card for: Becker muscular dystrophy.
P2860
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P2860
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Frameshift deletions of exons ...... isms of dystrophin production.
@ast
Frameshift deletions of exons ...... isms of dystrophin production.
@en
type
label
Frameshift deletions of exons ...... isms of dystrophin production.
@ast
Frameshift deletions of exons ...... isms of dystrophin production.
@en
prefLabel
Frameshift deletions of exons ...... isms of dystrophin production.
@ast
Frameshift deletions of exons ...... isms of dystrophin production.
@en
P2093
P2860
P1476
Frameshift deletions of exons ...... isms of dystrophin production.
@en
P2093
A H Burghes
A V Winnard
J Florence
J R Mendell
P2860
P304
P407
P577
1995-01-01T00:00:00Z