Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin - a protein involved in maintaining the integrity of muscle fiber. Onset is between 3-5 years and progresses rapidly. Most boys become unable to walk at 12, and by 20 have to use a res...
The disease is caused by mutations in the dystrophin gene that lead to total absence of the protein in muscle and consequent muscle degradation.2 Dystrophin is responsible for the connection between cytoskeleton and plasma membrane, providing mechanical stability. Dmdmdx mouse is an animal model for...
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The field of neuromuscular disorders is rapidly changing with new gene discoveries and disease modifying treatments changing the natural history of previously severe congenital disorders. The last ten years have seen new treatments move quickly into clinical practice. Early diagnosis and delivery of optima...
In summary, CM dedifferentiation, essential for CM plasticity, may have an important role in heart regeneration, thereby contributing to the prevention and treatment of heart disease. More attention is needed in this field to overcome the technical limitations and knowledge gaps....
What is the function of the parasympathetic division of the autonomic nervous system? What effects does it have on the body? What exactly are the enzymes and substances contained in bile that are not useful for the body? What is the role of the protein dystrophin in normal muscle fun...
We review the development of exon 51 skipping therapy with eteplirsen for Duchenne muscular dystrophy, including the recent report of long-term, sustained dystrophin production. Studies of the late-life health profile of patients with Duchenne muscular dystrophy, early detection of left ventricular ...
Facioscapulohumeral muscular dystrophy (FSHD) is arguably one of the most challenging genetic diseases to understand and treat. The disease is caused by epigenetic dysregulation of a macrosatellite repeat, either by contraction of the repeat or by mutations in silencing proteins. Both cases lead to...
They found that lead exposure induced an oxidative stress response in the cells, and identified two proteins involved in the process: SPP1, or osteopontin, and NRF2. How lead harms neural cells, children's neurodevelopment SPP1 genotype is a determinant of disease severity in Duchenne muscular dy...
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