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 25 for “"Lipodystrophy"”.
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Mechanistic Studies Of A Novel Ppar-Gamma Mutant That Causes Lipodystrophy And Diabetes
… The E157D PPAR-gamma mutant causes atypical lipodystrophy in a large Canadian kindred, presenting with multiple musculoskeletal, neurological and hematological abnormalities in addition to the classic lipodystrophy features of insulin-resistant diabetes, hypertension and dyslipidemia. This …
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Dissecting the Role of the Lipodystrophy Protein Seipin in the Biogenesis of the Lipid Droplet Organelle
… the most severe cases of congenital generalized lipodystrophy, may be a key factor in the early stages of lipid droplet formation. Seipin resides at the junction between lipid droplets and the endoplasmic reticulum, and deletion of seipin results in both a drastic impediment to de novo droplet …
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Investigation of High Molecular weight adiponectin in HIV -Infected patients on antiretroviral therapy
… levels and susceptibility to HIV-induced lipodystrophy. Although total adiponectin levels have been shown to be significantly reduced in patients with HIVinduced lipodystrophy, there is no information on whether HMW adiponectin, which appears to be the most biologically active form of …
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Metabolic complications resulting from the use of antiretroviral therapy in HIV-infected patients
… such as dysglycaemia, insulin resistance and lipodystrophy. Lipodystrophy is characterised by an increase in trunk fat (lipohypertrophy) and/or a decrease in limb fat (lipoatrophy). This thesis investigates the metabolic complications associated with ART, and develops simple anthropometric …
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Monogenic diabetes in large population settings
… The first two sections discuss MODY and lipodystrophy, respectively, and describe the varying phenotypes, diagnosis, treatment, and genetic causes of these diseases. The final section provides an overview of how large population cohorts can be used to study rare diseases and the …
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Characterisation of human metabolism in physiological and pathophysiological states
… paediatric patients with metabolic disorders (Lipodystrophy, Thyrotoxicosis and Resistance to Thyroid Hormone β or α), and Z scores were calculated to highlight their deviations from the healthy populations. In adults, thyrotoxicosis patients displayed the highest REE Z scores (5.8), followed …
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HIV Protease Inhibitors Trigger Lipid Metabolism Dysregulation Through Endoplasmic Reticulum Stress and Autophagy
… suppressing viral load, but have been linked to lipodystrophy and dyslipidemia, which are major risk factors for cardiovascular disease. Recent studies indicate that activation of endoplasmic reticulum (ER) stress is an important cellular mechanism underlying HIV PI-induced dysregulation of lipid …
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Toxicities associated with antiretroviral treatment of HIV-1
… disease (CVD), metabolic disorders, lipodystrophy, and osteoporosis are essential to ensure patient well being. This thesis aimed to provide more information on these toxicities in two clinical trial settings. Methods: Three sub-studies of the STEAL clinical trial examined the …
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Genetic determinants underlying rare diseases identified using next-generation sequencing technologies
… disease-associated variants for 71 patients with lipodystrophy, two with early-onset obesity, and families with brachydactyly, cerebral atrophy, microcephaly-ichthyosis, and widow’s peak syndrome. Understanding these variants and their contribution to disease can increase understanding of disease …
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Pharmacogenetics of stavundine : role of genetic variation in mitochondrial DNA and polymerase gamma among adult Malawian HIV/AIDS patients
… diseases such as peripheral neuropathy, lipodystrophy, lactic acidosis and hyperlactatemia but show interpatient variability. Studying African populations is likely to open the door for the population to benefit from novel diagnostic tools and drugs developed on the basis of …
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Genomic and metabolomic interrogation of body composition and insulin resistance endotypes
… with either pathological hypofunction i.e. lipodystrophy (LD) or, more rarely, enhanced function and resilience (myostatin deficiency). It was hypothesised that in the general population commoner genetic variants influencing the relative proportion of muscle and fat may also be found, …
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Elucidating the Role of Yeast Lipin (PAH1) in Lipid Droplet Biogenesis
… part of this dissertation will focus on the lipodystrophy related protein Fld1p and its association with lipid droplets. Droplets always associate with Fld1p, and in the absence of lipid droplets, Fld1p is localized as patches distributed throughout the endoplasmic reticulum. In addition, …
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dLipin-A Link between Lipid Metabolism, Glucose Homeostasis and Growth in Drosophila melanogaster
… of Lipin function has been implicated in lipodystrophy, obesity and insulin resistance. Using dLipin, the Drosophila homolog of Lipin, as a model, I aimed to elucidate the relationship between the two biochemical functions of Lipin and metabolic homeostasis. I discovered there is a strong …
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Hedgehog Signaling Plays a Conserved Role in Inhibiting Fat Formation
… as a therapeutic target for osteoporosis, lipodystrophy, diabetes and obesity.
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Altered regulation of adipogenesis with respect to disease processes
… disease, known as Dunnigan-type familial partial lipodystrophy (FPLD2) is characterised by defective fat metabolism and storage. FPLD2 is caused by a specific subset of mutations in the LMNA gene. The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be …
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Genetic Analysis of Adipose Lineage and Development
… metabolic disturbances that accompany too few (lipodystrophy) or too many (obesity) adipocytes. Most of our current understanding about adipocyte formation come from in vitro culture studies. Little is known about adipose development in vivo because of the lack of genetic tools. To this end, I …
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Pct1 regulates phosphatidylcholine synthesis in response to changes in surface curvature elastic stress sensed on the inner nuclear membrane
… interesting spectrum of human diseases, such as lipodystrophy with fatty liver, growth plate dysplasia and cone-rod related dystrophy. Numerous biochemical and structural studies on purified CCTα have revealed its membrane-bound activation and suggested that it acts as a lipid compositional …
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The effeciveness and determinants of effectiveness of antiretroviral therapy for adults in the Western Cape Province, South Africa
… hyperlactataemia or lactic acidosis as well as lipodystrophy were strongly associated with women initiating ART with a high initial body mass. The third paper explores the effectiveness of ART when co-administered with tuberculosis treatment, identifying that co-infected patients initiating …
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The effectiveness and determinants of effectiveness of antiretroviral therapy for adults in the Western Cape Province of South Africa
… hyperlactataemia or lactic acidosis as well as lipodystrophy were strongly associated with women initiating ART with a high initial body mass. The third paper explores the effectiveness of ART when co-administered with tuberculosis treatment, identifying that co-infected patients initiating …
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The pharmacologenetics of lopinavir in a cohort of black African HIV/AIDS patients
… to the drugs such as nausea, diarrhoea, and lipodystrophy with LPV use, which may influence their adherence to treatment and eventually lead to treatment failure. Inter-individual variability exists in patients' response to treatment despite the standard dose of 400 mg/100 mg (LPV/RTV) that …
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