Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 22 for “"Muscular Dystrophies"”.
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PRECLINICAL EVALUATION OF A NOVEL NFIX INHIBITOR FOR MUSCULAR DYSTROPHIES TREATMENT
Le Distrofie Muscolari (DM) sono malattie eterogenee, caratterizzate da progressiva degenerazione muscolare che, nei casi più severi, causa dipendenza dalla sedia a rotelle e morte prematura per blocco respiratorio o disfunzione cardiaca. La migliore strategia terapeutica per le DM coinvolge …
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Hypercontraction and Drosophila : a model system for the study of human myopathies
… fully alleviate the defects associated with muscular dystrophies and cardiomyopathies. Development of model systems in which to utilize high-throughput screens for novel compounds will help in drug discovery for these diseases. In addition, genetic model systems will allow us to dissect the …
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THE ASSESSMENT AND DEVELOPMENT OF FOLLISTATIN AS A GENE THERAPY AND ITS POTENTIAL ORTHOPEDIC APPLICATIONS
Muscular Dystrophies represent a group of inherited disorders that are characterized by muscle weakness and loss of muscle tissue with the symptoms generally worsening over time. Most therapies that have been invented and researched until now have aimed at targeting dystrophin which is the gene …
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Diagnosi molecolare della Distrofia Muscolare di Duchenne e della Neurofibromatosi tipo 1 con la tecnologia di sequenziamento Next Generation
Duchenne/Becker muscular dystrophies (DMD/BMD) are the most frequent inherited neuromuscular diseases caused by mutations in the dystrophin gene (DMD). Neurofibromatosis type 1 (NF1), caused by mutations in the neurofibromin gene (NF1), is a multisystem genetic disorder that commonly is associated …
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Multi-omics Data Integration for Identifying Disease Specific Biological Pathways
… proteomics, and RNAseq data on seven types of muscular dystrophies and control group. These unique multi-omics data sets provide us with the opportunity to identify disease-specific and most relevant biological pathways. We first perform t-test and OVEPUG test separately to define the …
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Conformational changes in actinin-type actin binding domains: probing actin-induced structural dynamics in dystrophin and utrophin using EPR spectroscopy.
The underlying cause of Duchenne and Becker muscular dystrophies is a lack of functional dystrophin, a large multidomain protein. Dystrophin is normally expressed in muscle, where it links the extracellular matrix to the cortical actin cytoskeleton via a complex of associated proteins. Dystrophin, …
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Characterization of the sarcolemma in limb-girdle muscular dystrophy
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of slowly progressive muscular dystrophies. Mutations in the dysferlin gene cause LGMD 2B, Miyoshi myopathy (MM) and distal anterior compartment myopathy (DACM) commonly referred to as dysferlinopathies. Dysferlin is a transmembrane …
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Delineation of the genotype and phenotype of children presenting with dystrophies, excluding dystrophinophathies, in the Western Cape of South Africa. (2019-2020)
Background Muscular dystrophies (MD) and myopathies are a distinct group of clinically and genetically heterogeneous inherited muscle diseases. They cause muscle weakness often with cardiac, pulmonary, and musculoskeletal dysfunction, leading to reduced longevity. MDs and myopathies present across …
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AGE-RELATED GUT DYSBIOSIS ACCELERATES THYMIC INVOLUTION AND ALTERS PERIPHERAL T CELL REPERTOIRE IN DUCHENNE MUSCULAR DYSTROPHY
… and dystrophic conditions like Duchenne Muscular Dystrophy (DMD), as well as during the natural process of muscle regeneration. Conventionally, immune system activation was regarded as a consequence of muscle atrophy. However, recent findings have unveiled a malfunction in central …
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Characterization of C. Elegans Pat-9 and Frg-1, Genes Critical for Body Wall Muscle Development
… of the same Z-disk proteins. Many other types of muscular dystrophy, such as Duchenne, Becker, certain limb-girdle dystrophies and some rare congenital muscular dystrophies result from mutations affecting vertebrate orthologs of dense body components. To date, our study of FRG-1 in C. elegans …
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Stimulation de la régénération endogène dans le traitement de la dystrophie musculaire
Muscular dystrophies are severe, degenerative diseases for which no efficient therapeutic options exist. These diseases are characterized by muscle wasting, limited life expectancy and reduced ambulatory capacities. Mutations in proteins implicated in the attachment of muscle fibers to the …
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Novel Roles for A-Type Lamins in Maintaining Genomic Stability
… of degenerative diseases which range from muscular dystrophies and lipodystrophies to premature aging syndromes. In addition, alterations in the expression of A-type lamins are associated with different cancers such as small cell lung carcinoma and gastrointestinal neoplasms. Despite the …
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Investigation of the use of extracellular vesicles for the treatment of congenital muscular dystrophy
… patients present with a very broad spectrum of muscular dystrophies ranging from severe Walker Warburg syndrome (WWS), characterised by severe structural brain, muscle, and eye abnormalities, to mild adult-onset Limb-girdle Muscular Dystrophy 2I (LGMD2I). No effective treatment is currently …
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Multiscale modeling and simulation of deformation and failure mechanisms of hierarchical alpha-helical protein materials
… pathways linked to AH proteins such as muscular dystrophies.
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Evaluation of Myogenic Differentiation Potential of BMD iPSCs in vitro and the Effect of Ubiquitination Inhibitors on Dystrophin Stability in vivo
<p>Background: Muscular dystrophies are heterogeneous groups of inherited diseases leading to progressive muscular weakness and degeneration. In the case of Becker muscular dystrophy (BMD), non-disrupting mutations of the DMD gene reading frame is the causative defect. By the age of 30s, about 60 …
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Laminins in blood vessel development and disease -functional aspects in angiogenesis, atherosclerosis, and muscular dystrophy
… selectively spared from muscle wasting in some muscular dystrophies, including a mouse model of muscular dystrophy arising from complete absence of laminin ?2 chain. This model was used to identify the cause of this exclusion. Immunohistochemical and quantitative PCR studies suggested that …
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Imaging 3D tissue fiber organization using optical polarization tractography
… heart samples of the mdx mouse model of Duchene muscular dystrophies (DMD). A rotational imaging platform was developed to obtain OPT images of the excised whole mouse heart. The imaging light was repetitively scanned along the long axis of the heart while the heart was rotated continuously on …
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Characterization of C. elegans PAT-9 and FRG-1, which are critical for body wall muscle development
… such as obesity, diabetes, cancer, Duchenne’s muscular dystrophy, and several neurodegenerative diseases. In these studies we used C. elegans to further investigate muscle development and as a model for facioscapulohumeral muscular dystrophy (FSHD) pathophysiology. A previous genetic screen in …
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Molecular genetic investigation of autosomal dominant muscular dystrophy
… skeletal muscle diseases, including the muscular dystrophies investigated here. Microsatellite, VNTR and RFLP markers were used in a search for linkage to a novel form of distal myopathy segregating in a Western Australian family. The decadic logarithm of the likelihood ratio, or 'lod …
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CORRECTION OF THE GENETIC DEFECT IN INDUCED PLURIPOTENT STEM CELL LINES THROUGH CHROMOSOME TRANSPLANTATION
… Duchenne (DMD) and Becker (BMD) muscular dystrophies are the most well-known forms. These conditions are characterized by progressive loss of respiratory and cardiac muscle strength, as well as nerve tissue damage. In my laboratory, we study therapeutic strategies for both DMD and …
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