Global ETD Search
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Showing 1 to 20 of 20 for “"Muscle Disease"”.
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Integrins in muscle disease and repair
… an important role in maintaining adult skeletal muscle integrity and like dystrophin, provides anchorage and bidirectional signaling as a laminin receptor. The expression of α7β1 integrin was upregulated upon dystrophin deficiency arguing for the molecular compensation and thus considered as …
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Inflammatory muscle disease: studies in mice and men
Contains fulltext : mmubn000001_214694232.pdf (Publisher’s version ) (Open Access)
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Arachidonate oxidation metabolite profiles for myoglobin and a structurally altered form of myoglobin produced in muscle disease or trauma
<p>Myoglobin (Mb) and Myoglobin-H (Mb-H) react with glycerophosphocholine (GPC) lipid in the presence of oxygen. This reaction allows the heme group in the protein the chance to induce peroxidation reactions with the lipid. Several aldehyde products of this type of reaction with arachadonic acid …
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Mitochondrial Biology in Sporadic Inclusion Body Myositis
… Body Myositis (sIBM) is an inflammatory muscle disease that strikes individuals at random and accounts for approximately 1/3 of all idiopathic inflammatory myopathies. It is characterized by progressive weakness of distal and proximal muscles and is the most common muscle disorder in …
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Optimization of an in vitro model to study Duchenne Muscular Dystrophy
… Dystrophy (DMD) is the most common inherited muscle disease, affecting 1 out of 5000 male live births. DMD pathology results from genetic and biochemical defects in the dystrophin-glycoprotein complex causing membrane instability, and accordingly, muscle fragility, apoptosis and abnormal …
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Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy
… ventricular cardiomyopathy (ARVC) is a rare muscle disease characterised by fibrofatty replacement of the right ventricular myocardium, leading to electrical instability and eventual heart failure. Dilated cardiomyopathy (DCM) is a disease characterised by a reduction in ventricular wall …
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ROLE OF G9A IN SKELETAL MYOGENESIS
… are the basic contractile unit of striated muscle and is essential for muscle contractile function such that mutations in sarcomeric proteins underlie skeletal muscle disease and dysfunction. Here, we provide evidence that the lysine methyltransferase G9a represses expression of several …
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The Role of Membrane Lipid Composition on Skeletal Muscle Damage in the Rodent Model of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a X-linked muscle disease, which leads to alterations in membrane phospholipid fatty acid (FA) composition and skeletal muscle damage. Increased membrane saturated FA in muscular dystrophy may suggest its association with increased susceptibility (as being the cause …
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Physiological consequences of the work of breathing and of inspiratory muscle training
… during whole-body exercise following inspiratory muscle training (IMT). However, whether the inspiratory muscles are, in part, the source of these reductions remains unknown. Accordingly, this thesis investigated: (I) the contribution of the respiratory muscles to the systemic [lac-]B and (II) the …
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Cardiorespiratory abnormalities in early and advances stage mouse models of Duchenne muscular dystrophy
… muscular dystrophy (DMD) is an X-linked severe muscle disease caused by dystrophin gene mutations affecting 1 in 3,500 newborn males worldwide every year. DMD is characterized by progressive skeletal muscle degeneration and weakness. In advanced disease, respiratory insufficiency and dilated …
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Effects of mutant SHP2 expression on heart function in Duchenne muscular dystrophy
… recent advancements in treatment of the skeletal muscle disease, patients with DMD have lengthened lifespans, allowing them to live into their forties. Consequently, the prevalence of heart disease has risen in DMD patients. Dilated cardiomyopathy typically develops during adolescence and …
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Precision Gene Editing for Muscle Diseases
Muscle, comprising both skeletal muscle and cardiac muscle, is integral to the human experience, allowing us to do the many incredible things. Consequently, genetic mutations that cause muscle disease can have a profound effect on the afflicted individual. Gene editing tools like base editors and …
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Determinants and Monitoring of Response to Disease-Modifying Therapy for Transthyretin Amyloidosis Cardiomyopathy: The ATTR-CM Therapy Study
… amyloidosis cardiomyopathy (ATTR-CM) is a heart muscle disease characterized by the accumulation of misfolded transthyretin proteins as amyloid plaques in the myocardial interstitium. In 2020, tafamidis, a medication inhibiting the misfolding of transthyretin, received Health Canada's approval …
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Genetic Analysis of Toxin-Induced Dilated Cardiomyopathy in the Turkey (Meleagris gallopavo)
Dilated cardiomyopathy (DCM) or round heart disease is a muscle disease of the heart which is characterized by ventricular dilatation and abnormal systolic and diastolic left ventricular function. In animals, including turkeys and humans, DCM is the major cause of morbidity and mortality which …
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MODELING FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY USING PRIMARY AND PATIENT-DERIVED INDUCED PLURIPOTENT STEM CELLS
… (FSHD) is an autosomal dominant degenerative muscle disease with no cure or treatment. The genetic cause of FSHD is the reduction of the copy number of subtelomeric D4Z4 repeats at 4q35 encoding Double Homeobox 4 (DUX4) protein, which is a potent transcription factor that is toxic to the cell. …
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… (ARVC) is a progressive form of inherited heart muscle disease characterized by ventricular arrhythmias and sudden cardiac death. Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended investigations of the pathogenic PKP2 c.1162C>T …
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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)
… 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 all life stages. Delineation of this condition and specifically the subgroups …
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An Assessment of the Effects of Oxidative Stress and Dietary Antioxidants on Toxin-Induced Dilated Cardiomyopathy in the Turkey (Meleagris gallopavo)
Dilated cardiomyopathy (DCM) or round heart disease is a muscle disease of the heart characterized by left ventricular dilatation and abnormal systolic and diastolic ventricular function. In animals, including turkeys and humans, DCM is a major cause of morbidity and mortality that results in heart …
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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
… 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 to 70% of BMD patients …
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Sarcopenia and Low Back Pain in Older Adults
… population has been neglected. Sarcopenia is a muscle disease affecting older adults and is diagnosed with the presence of a reduction in muscle strength and muscle quantity/quality. Although low back pain has been shown to be associated with muscle dysfunction, the role of sarcopenia in …