Doctoral Degrees (Molecular Biology and Human Genetics)
Recent Submissions
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Understanding decision-making regarding prenatal diagnostic testing for down syndrome and termination of pregnancy: an interpretive phenomenological study
(Stellenbosch : Stellenbosch University, 2018-03)ENGLISH ABSTRACT: Pregnant women or couples who screen high risk for a baby with Down syndrome (DS) are faced with having to make life changing decisions. Firstly, they need to decide whether they want prenatal diagnostic ...
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Identification of novel candidate genes for susceptibility to tuberculosis by identifying disease-causing mutations in individuals with Primary Immunodeficiency disorders
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency disorder believed to affect less than 1:1 000 000 individuals globally. It is characterized by increased ...
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Sputum derived biomarkers of anti-tuberculosis drug activity in early bactericidal activity (EBA) studies.
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Sputum sample is a crucial material to diagnose tuberculosis (TB), the resistance to different drugs and the assessment of new drug effectiveness in clinical trials. The first step to evaluate the efficacy ...
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The effects of a Mycobacterium bovis infection on the metabolic and reproductive systems of African lions (Panthera leo) in the Kruger National Park.
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: SCCHg en SCCmec elemente is, maar verdere filogenetiese ondersoeke moet uitgevoer word, om insig te gee oor die oorsprong en verspreiding van hierdie nuwe element. This thesis serves as an attempt to ...
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Seroprevalence and molecular epidemiology of Toxoplasma gondii in the Western Cape of South Africa
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Toxoplasmosis is a disease caused by the obligate intracellular parasite Toxoplasma gondii and is one of the most widely occurring infections known to man, causing disease in almost all mammals and ...
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Pyrazinamide resistance in Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Pyrazinamide (PZA) is one of the drugs included in the standardized TB treatment regimen for both drug susceptible and resistant TB. PZA has a unique ability to target persister bacilli and since its ...
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Molecular characterization and drug susceptibility of isolates from MDR-TB patients in the Eastern Cape and North West provinces of South Africa
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: South Africa is among the countries facing rising numbers of Mycobacterium tuberculosis (Mtb) drug resistant strains. In 2000, DOTS-Plus strategy was introduced nationally to combat drug resistant tuberculosis ...
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The evaluation of novel biomarkers and antigens for the diagnosis of Mycobacterium bovis infection in African buffaloes (Syncerus caffer).
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Mycobacterium bovis (M. bovis) forms part of the Mycobacterium tuberculosis complex (MTC), a group of genetically related bacteria that causes tuberculosis in humans and animals. African buffaloes (Syncerus ...
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Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH SUMMARY: Parkinson’s disease (PD) is a progressive and severely debilitating neurodegenerative disorder that is characterised by a range of motor symptoms and the selective loss of dopaminergic neurons in the ...
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Analysis of copy number variation and disease mechanisms underlying Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH ABSTRACT : Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Although the aetiology of PD is still not fully ...
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Mapping of the distribution of Mycobacterium bovis strains involved in bovine tuberculosis in Mozambique
(Stellenbosch : Stellenbosch University, 2015-12)ENGLISH ABSTRACT: Bovine tuberculosis (BTB), caused by bacteria of the Mycobacterium tuberculosis complex is reported to cause economic and public health negative impact in countries where it is prevalent. The control ...
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Differential inhibition of adenylylated and deadenylylated Mycobacteriun tuberculosis glutamine synthetase by ATP scaffold-based inhibitors
(Stellenbosch : Stellenbosch University, 2015-12)ENGLISH ABSTRACT: Please refer to full text for abstract
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Identification of parkin interactions: implications for Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2015-12)ENGLISH ABSTRACT: Parkinson’s disease (PD) is a progressive and debilitating neurodegenerative disorder, characterized by a distinct motor phenotype and the selective loss of dopaminergic neurons in the substantia nigra. ...
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The role of ergothioneine in mycobacteria
(Stellenbosch : Stellenbosch University, 2015-12)
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Using bioinformatics and biostatistics to elucidate susceptibility to tuberculosis in an admixed population
(Stellenbosch : Stellenbosch University, 2015-03)ENGLISH ABSTRACT : Tuberculosis is the second leading cause of mortality from infectious disease worldwide. One of the factors involved in developing disease is the genetics of the host, yet the field of TB susceptibility ...
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Molecular characterization of the drug resistant tuberculosis epidemic in the Eastern Cape, South Africa
(Stellenbosch : Stellenbosch University, 2015-03)ENGLISH ABSTRACT : South Africa has a high burden of multidrug-resistant (MDR) and extensively drug-resistant (XDR) tuberculosis (TB), with the Eastern Cape (EC) being one of the worst affected provinces in the country. ...
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Regulatory responses to rifampicin exposure in Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2015-03)ENGLISH ABSTRACT : There is increasing evidence that the mechanisms of drug resistance in Mycobacterium tuberculosis are not limited to mutations in the known drug resistance causing genes. Classically a mutation in one ...
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Elucidation of the structure and function of the Mycosins, a family of essential subtilisin-like serine proteases of Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2014-12)ENGLISH ABSTRACT: Mycobacterium tuberculosis is an ancient pathogen, which has been infecting humans for millennia. It remains globally spread, infecting one third of the world’s population and causing around two million ...
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Development of immune-based TB tests suitable for resource limited settings
(Stellenbosch : Stellenbosch University, 2014-12)ENGLISH ABSTRACT: - Background - Tuberculosis (TB) is still one of the leading causes of death in poor socio-economic settings. This situation is encouraged by the lack of simple and rapid tests suitable for rapid ...
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The role of novel protein-protein interactions in the function and mechanism of the sarcomeric protein, myosin binding protein H (MyBPH)
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Left ventricular hypertrophy (LVH) is a major risk factor for cardiovascular morbidity and mortality, and is a feature of common diseases, such as hypertension and diabetes. It is therefore vital to ...
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Host genetic factors in susceptibility to mycobacterial disease in the African buffalo, Syncerus caffer.
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Bovine tuberculosis (BTB) is a chronic, infectious disease found in domestic livestock and wildlife, and has serious biodiversity, economic and public health implications. African buffalo act as a wildlife ...
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A phylogenomic- and proteomic investigation into the evolution and biological characteristics of the members of the group 2 Latin-American Mediterranean (LAM) genotype of Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Mycobacterium tuberculosis (M. tuberculosis) is the causative agent of tuberculosis (TB), a disease that affects millions of people world-wide. The species M. tuberculosis consists of a large number of ...
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Investigation of the activity of sulfonamide anti-bacterial drugs in Mycobacterium tuberculosis and the role of oxidative stress on the efficacy of these drugs
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Tuberculosis (TB) has become a global health epidemic affecting millions of people worldwide with a high incidence in third-world countries. The emergence of multi-drug and extremely-drug resistant M. ...
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The role of the major histocompatibility complex and the Leukocyte receptor complex genes in susceptibility to tuberculosis in a South African population
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Tuberculosis (TB) disease results in approximately 2 million deaths annually and is the leading cause of death due to a single infectious agent. Previous studies have indicated that host genetics play ...
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Molecular and functional characterisation of Long QT Syndrome causing genes
(Stellenbosch : Stellenbosch University, 2014-04)ENGLISH ABSTRACT: Ventricular arrhythmias are the most important cause of sudden cardiac death (SCD) among adults living in industrialised nations. Genetic factors have substantial effects in determining population-based ...
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Investigation of genetic variation contributing to antipsychotic treatment response in a South African first episode schizophrenia cohort
(Stellenbosch : Stellenbosch University, 2013-12)ENGLISH ABSTRACT: Schizophrenia is a debilitating disorder that occurs the world over. Although antipsychotics are largely effective in treating the positive symptoms of schizophrenia, the outcomes are non-optimal in ...
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The glutamate dehydrogenase of the slow growing mycobacteria : its function in nitrogen metabolism and importance to in vitro and intracellular survival
(Stellenbosch : Stellenbosch University, 2013-12)ENGLISH ABSTRACT: Recent studies have implicated the metabolism of glutamate in Mycobacterium tuberculosis, the causative agent of tuberculosis disease, as an important factor in survival of the bacterium in the human ...
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The evolution of the Mycobacterium tuberculosis proteome in response to the development of drug resistance
(Stellenbosch : Stellenbosch University, 2013-03)ENGLISH ABSTRACT: This study is the first of its kind to highlight the importance of using the latest state of the art technology available in the field of proteomics as a complementary tool to characterize the proteome ...
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Identification of mechanisms regulating the intra cellular concentration of rifampicin in Mycobacterium Tuberculosis
(Stellenbosch : Stellenbosch University, 2013-03)ENGLISH ABSTRACT: Rifampicin resistance in clinical isolates of Mycobacterium tuberculosis develops through selection of bacterial variants harbouring mutations in the rpoB gene. These mutations infer a fitness-cost in the ...
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Understanding the evolution and function of the mycobacterial Type VII ESX secretion systems (T7SSs) and their substrates
(Stellenbosch : Stellenbosch University, 2013-03)ENGLISH ABSTRACT: Mycobacterium tuberculosis, the causative agent of tuberculosis disease, contains five copies of the ESAT-6 gene cluster, each encoding a dedicated ESX protein secretion system which has been defined as ...
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