Alternative splicing and muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Role of Aberrant Alternative Splicing in Cancer
Alternative splicing can alter genome sequence and as a consequence, many genes change to oncogenes. This event can also affect protein function and diversity. The growing number of study elucidate the pathological influence of impaired alternative splicing events on numerous disease including cancer. Here, we would like to highlight the significant role of alternative splicing in cancer biolog...
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The severe muscle wasting disorder Duchenne muscular dystrophy (DMD) is caused by genetic defects in the DMD gene, leading to a complete absence of dystrophin protein. Of the therapeutic approaches addressing the underlying genetic defect, exon skipping through antisense oligonucleotides (AONs) is the closest to clinical application. Several strategies to improve the efficiency of this approach...
متن کاملcongenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
متن کاملMuscular dystrophy.
MANY observers have reported pathologic changes in the myoeardium of patients with muscular dystrophy similar to those in the skeletal muscles.'-8 Clinical evidence of involvement of the heart has also been noted, consisting of persistent tachycardia,9 10 arrhythmias,10 congestive heart failure, chest pain, cardiac enlargement, changes in heart sounds, murmurs, electrocardiographic alterations ...
متن کاملMuscular Dystrophy
Introduction. First, we will give a general overview of the generation of muscle contraction in a normal cell. Skeletal muscle contraction is accomplished by the generation of a neuronal action potential that terminates at the neuromuscular synapse. The neuronal action potential (AP) stimulates sodium channels in the neuronal axon that propagates the signal along the axon. As the AP reaches the...
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ژورنال
عنوان ژورنال: RNA Biology
سال: 2010
ISSN: 1547-6286,1555-8584
DOI: 10.4161/rna.7.4.12258