Results 1 to 10 of about 21,009 (196)
Increased neointimal thickening in dystrophin-deficient mdx mice.
PLoS ONE, 2012 BackgroundThe dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), encodes a large cytoskeletal protein present in muscle fibers. While dystrophin in skeletal muscle has been extensively studied, the function of dystrophin in vascular ...
Uwe Rauch +5 more
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Advance and cogitation of gene therapy for Duchenne muscular dystrophy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma.
Cheng ZHANG, Jin-fu LIN, Zi-yu LIAO
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A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. [PDF]
Journal of Clinical Investigation, 1995 We have previously shown in a large X-linked pedigree that a deletion removing the dystrophin muscle promoter, the first muscle exon and part of intron 1 caused a severe dilated cardiomyopathy with no associated muscle weakness. Dystrophin expression was present in the muscle of affected males and transcription studies indicated that this dystrophin ...
MUNTONI F +8 more
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Dystrophin-Deficient Cardiomyopathy
Journal of the American College of Cardiology, 2016 Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.
Forum, Kamdar, Daniel J, Garry
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Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin
Journal of Functional Morphology and Kinesiology, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in ...
Laura Forcina +3 more
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PLoS ONE, 2014 Duchenne muscular dystrophy (DMD) is characterized by the absence or reduced levels of dystrophin expression on the inner surface of the sarcolemmal membrane of muscle fibers.
Chantal Beekman +8 more
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The interaction of actin with dystrophin
FEBS Letters, 1990 Proton NMR spectroscopy of synthetic peptides corresponding to defined regions of human dystrophin has been employed to study the interaction with F‐actin. No evidence of interaction with a C‐terminal region corresponding to amino acid residues 3429–3440 was obtained.
Levine, B.A. +3 more
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Dystrophinopathy in the paravertebral muscle of adolescent idiopathic scoliosis: a prospective case-control study in China [PDF]
Asian Spine JournalStudy Design A prospective case-control study. Purpose This prospective case-control study aimed to analyze the paravertebral muscle changes in patients with adolescent idiopathic scoliosis (AIS) and determine paravertebral myopathological changes ...
Junyu Li +7 more
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Physiological ReportsThe dystrophin protein has well‐characterized roles in force transmission and maintaining membrane integrity during muscle contraction. Studies have reported decreased expression of dystrophin in atrophying muscles during wasting conditions, and that ...
Kristy Swiderski +8 more
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TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
Cell Reports, 2015 The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo +13 more
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