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Analyse der Dystrophin-Interaktivität
, 2017 Acknowledgements 1 Abstract 3 Résumé 5 Abstrakt 7 Figures 12 Tables 13 Supplementary figures 14 Supplementary tables 15 Abbreviations 16 Chapter 1 – Introduction 18 Chapter 2 – Literature review 23 2A. Dystrophin domains 23 2A1.
Thorley, Matthew
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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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Quantitative MRI Assessment of Myotoxin‐Induced Skeletal Muscle Damage of mdx Mice
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Although magnetic resonance imaging (MRI) has been extensively applied in dystrophic muscle, longitudinal characterization of multiple quantitative MRI parameters during degeneration and regeneration remains limited. This study aimed to longitudinally characterize changes in quantitative MRI parameters in control and ...
Ravneet Vohra +4 more
wiley +1 more source
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
doaj
Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
Molecular Therapy: Nucleic Acids, 2012 Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher +9 more
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With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies
Neurology and Clinical Neuroscience, EarlyView.ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley +1 more source
Structural analysis and modeling comparison of primates dystrophin [PDF]
, 2013 Dystrophin is a rod-shaped cytoplasmic protein which is an essential piece ofa protein complex that binds the cytoskeleton of a muscle fiber to the nearby extracellular matrix within the cell membrane.
Mohajer, Faeze Sadat
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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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Neuroprotection, EarlyView.Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji +4 more
wiley +1 more source
, 1993 Duchenne muscular dystrophy (DMD) patients and mdx mice are characterized by the absence of dystrophin, a membrane cytoskeletal protein. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, including dystroglycan which ...
Kiichiro Matsumura +7 more
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