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 “"Inborn errors"”.
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Human Inborn Errors of Immunity: Tuberculosis, Autoimmunity, and Beyond
<p>Tuberculosis (TB), a multi-organ infectious disease caused by virulent mycobacteria, most predominantly M. tuberculosis, remains one of the deadliest infectious diseases in human history. Bacillus Calmette-Guérin (BCG) vaccine, first implemented medically in 1921, has remained the only available …
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Common 'Inborn Errors' of Metabolism in the General Population
Inborn errors of metabolism (IEMs) are a group of disorders characterised by the toxic accumulation or deficiency of circulating molecules (‘metabolites’) caused by rare genetic mutations. Previous studies have identified select examples where common variants at genes known to cause rare Mendelian …
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Determination of the frequency of four pathogenic variants causing inborn errors of metabolism in the western cape black population, using a multiplexed arms pcr approach
… identified pathogenic variants causing inborn errors of metabolism will enable early diagnosis and treatment of illness, and counselling of prospective parents. Four single nucleotide variants (SNV) were identified in our black South African population, on two or more separate alleles, …
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Applications of Disposable Pipette Extraction for Analysis of Drugs of Abuse Vitamin D Metabolism Testosterone and Inborn Errors of Metabolism by Gas and Liquid Chromatography/mass Spectrometry
<p>To find a simple extraction procedure with high extraction efficiency for urinary organic acids with wide pKa range and polarity, two major ion exchange phases of weak cation and anion were experimented. For weak anion exchange, oxalic acid was found to irreversibly bind to the sorbent and small …
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Metabolic Control, Quality of Life, and Body Image In Patients With Glycogen Storage Disease Type Ia
<p>Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down …
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The Role of Insig-Mediated Cholesterol Homeostasis in Mouse Hair Development
… where sterol precursors accumulate due to inborn errors in cholesterol biosynthesis.
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Oxygen, the invisible orchestrator of metabolism and disease : a focus on mitochondrial And peroxisomal dysfunction
… Mitochondrial disorders are the most common inborn errors of metabolism, affecting approximately 1 in 5000 live births. Patients can present in infancy or adulthood with symptoms affecting multiple organ systems including blindness, deafness, muscle weakness, developmental delay and severe …
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The Contextual Roles of Isocitrate Dehydrogenase-1 and Isocitrate Dehydrogenase-2 in Electron Transport Chain Complex III Deficiency
Inborn errors of metabolism provide excellent opportunities in translational research, because individual clinical cases can stimulate insights that lead to a deeper understanding of human metabolism and sometimes inform personalized patient care. Our clinical genetics team identified a female …
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Optimisation of a flow cytometry antibody panel to detect BCG-induced innate responses in infants
… (BCG) vaccination. As it stands, other than inborn errors in key mycobacterial susceptibility genes both animal and human studies have not found many genetic polymorphisms that are strongly and reproducibly associated with increased mycobacterial disease susceptibility and/or BCG vaccine …
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DISSECTION OF HOST-VIRUS INTERACTIONS IN THE HUMAN CENTRAL NERVOUS SYSTEM
… (CNS), and the most common cause is HSV-1. Inborn errors of immunity (IEIs) have demonstrated that neuron, cell type-specific, antiviral immunity is essential to prevent viral infection and encephalitis. However, despite these key advances in human genetics, relatively little is known about …
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B cell memory in STAT3 Hyper-IgE Syndrome: Cytokine integration, IgE regulation, and the architecture of human memory B cell subsets
… IgE+ memory B cells (MBCs). Individuals with Inborn Errors of Immunity (IEI) shed light on the molecular and cellular requirements for immune responses in diverse clinical contexts. Patients with heterozygous pathogenic dominant negative (DN) variants in STAT3 present with a Hyper-IgE Syndrome …
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Glucose-6-Phosphatase in Metabolic Disease and Cancer
Inborn errors of metabolism (IEMs), which are caused by germline mutations in metabolic enzymes and nutrient transporters, provide an opportunity to observe how discrete metabolic defects cause human disease. Glycogen Storage Disease Type 1a (GSD1a), or von Gierke's disease, is an autosomal …
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Common variants in antibody deficiencies
The inborn errors of immunity (IEIs) comprise a group of almost 500 diseases charac- terised by immune dysfunction of genetic origin. Many of these disorders represent canoni- cal examples of Mendelian disease and study of their genetic aetiology is largely conducted within a rare-variant, …
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Adaptive Immune Responses to Vaccination Against SARS-CoV-2 in Individuals with Immune Dysregulation
… with immune dysregulation, such as those with inborn errors of immunity, cancer, obesity, and on immunomodulatory drugs, make up a large proportion of the UK population. These individuals are at increased risk from COVID-19 disease but also are more likely to respond poorly to vaccination. …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
… constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among health care professionals. This fascinating spectrum …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
… constitute a diverse and everexpanding group of inborn errors affecting a wide range of immune functions. They are not well documented in Sub-Saharan Africa. An important barrier to care is limited awareness of PIDs and their management among health care professionals. This fascinating spectrum …
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ADVANCED AAV-MEDIATED LIVER-DIRECTED GENE THERAPIES FOR HAEMOPHILIA A AND MUCOPOLYSACCHARIDOSIS TYPE VI
… early stage of intervention, such as early-onset inborn errors of metabolism. My PhD project aims to overcome these shortcomings and broaden the therapeutic applications of AAVs. To overcome the issue of limited cargo capacity, I explored an AAV-mediated protein trans-splicing (PTS) strategy …
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Computer modelling of metabolic adaptions during mitochondrial dysfunction and machine learning to predict novel mitochondrial disease genes
… late onset diseases such as Parkinson’s, and inborn errors of mitochondrial metabolism cause severe neurological and physiological diseases. Patients with suspected mitochondrial disease have their DNA sequenced and analysed. Diagnosis of mitochondrial disease by sequencing requires knowledge …
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Monogenetic Immune Dysregulation Syndromes and their Effect on the Plasma Cell Compartment
Long-term immunity is shaped by the immune system's interactions with infectious agents or vaccinations. In individuals with immune dysregulation, such as patients with primary immunodeficiency (PID) or rheumatic diseases, these interactions are altered. Plasma cells (PC) and their B cell …
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