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Dystrophin: The protein product of the duchenne muscular dystrophy locus
TLDR
The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus. Expand
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
TLDR
The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. Expand
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
TLDR
The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length. Expand
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TLDR
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype. Expand
The structural and functional diversity of dystrophin
TLDR
Genetic, biochemical and anatomical studies of dystrophin suggest that a number of distinct functions are subserved by its great structural diversity and may lead to an understanding of the cause and perhaps a rational treatment for muscular dystrophy. Expand
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle
TLDR
To examine the pathogenic pathways and identify new or modifying factors involved in muscular dystrophy, expression microarrays were used to compare individual gene expression profiles of skeletal muscle biopsies from 12 DMD patients and 12 unaffected control patients and identified 105 genes that differ significantly in expression level between unaffected and DMD muscle. Expand
Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein
TLDR
Using the yeast two-hybrid method, a skeletal muscle-specific form of filamin is identified, which is term filamin 2 (FLN2), as a γ- and δ-sarcoglycan interacting protein which introduces new implications for the pathogenesis of muscular dystrophy. Expand
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
TLDR
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features. Expand
Correction for Eisenberg et al., Distinctive patterns of microRNA expression in primary muscular disorders
TLDR
Functional correlation between the predicted targets of these miRNAs and mRNA expression demonstrated tight posttranscriptional regulation at the mRNA level in DMD and Miyoshi myopathy, suggesting an important role of miRNAAs in specific physiological pathways underlying the disease pathology. Expand
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
TLDR
Some of the isoform diversity of alpha-actinins is the result of transcription from different genetic loci, demonstrating that actin binding is not calcium sensitive. Expand
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