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 43 for “"disease gene"”.
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Computational methods for disease gene identification in intellectual disability
Contains fulltext : 207613.pdf (Publisher’s version ) (Open Access)
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Regulation of Astrocyte Functions by a Parkinson's Disease Gene, DJ-1
INTRODUCTION . 1 A. Parkinson's disease (PD) 1 B. Genes associated with PD . 2 1. DJ-1 (PARK7) 2 2. Other genes . 3 C. Function of astrocytes in the normal brain . 6 D. Function of astrocytes in the injured brain . 7 1. Reactive astrocytes : intermediate filaments (Ifs) and morphological features . …
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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n …
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A Multimodal Graph Convolutional Approach to Predict Genes Associated with Rare Genetic Diseases
There exist a large number of rare genetic diseases in humans. Our knowledge of the specific gene variants whose presence in the genome of a person predisposes them towards developing a disease, called gene associations, is incomplete. Computational tools which can predict genes which may be …
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Molecular genetic investigation of autosomal dominant muscular dystrophy
… Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy. Genomic clones for the human skeletal muscle genes slow troponin (TNN/1), alpha actin (ACTA1), and (3-tropomyosin (TPM2) were isolated for …
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Refinement of the physical and genetic maps of the MEN2A region in pericentromeric chromosome 10
The gene responsible for multiple endocrine neoplasia type 2A (MEN2A) has been localized to the pericentromeric region of chromosome 10.Several markers which fail to recombine with MEN2A have been identified including D10Z1, D10S94 , RET, D10S97, and D1OS102. Meiotic mapping in the MEN2A region is …
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Clustering-Based Methods for Clinical Risk Prediction of Rare Missense Variants
… goal in clinical genomics is to map individual genetic variants to clinical outcomes. Typically, variants which lead to loss of function (e.g. nonsense or stop-codon inducing variants, frameshifts, or deletions) are more easily classified as pathogenic in an established disease gene. However, …
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Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa
… disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African …
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Discovery of overlapping 1-closed biclusters
… biclusters from two different but related heterogeneous relations. Our algorithm generates 1-closed biclusters by expanding closed biclusters. In the process of generating 1-closed bicluster we allow to add limited “0”s to the closed bicluster. A bicluster with a limited number of such …
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A molecular-genetic study of Congenital Nystagmus
… in a broad spectrum of clinical situations and diseases or it may occur in isolation and an inherited disorder. Surprisingly little is known about the underlying mechanisms of ocular-motor control. Similarly, the pathophysiological mechanisms underpinning nystagmus is also poorly understood. By …
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p53 nuclear localization control, and p53-dependent regulation of DNA repair gene transcripts
… of mice with a deletion allele for the Trp53 gene, to explore both the regulation of p53, and its downstream functions mediated by specific activation of target genes. Chapter 2 addresses the regulation of nuclear localization of the p53 protein. Previous reports in the literature had …
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Identification and Characterisation of New Mouse Models for Hearing Loss
Mouse N-ethyl-N-Nitrosourea (ENU) mutagenesis programmes have been successfully employed for the identification of models of human disease, and allowed the discovery of novel gene associations. This thesis describes the characterization of two new ENU-induced mouse models of hearing loss, goya and …
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Analysis of axonal transport and molecular chaperones during neurodegeneration in drosophila
… dysfunction and cell death occurs during neurodegeneration. Animal models that express human disease genes and show neurodegenerative-like pathologies are widely used to study particular molecular systems in early neurodegenerative changes. Axonal transport (AT) is perturbed in several prevalent …
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The elucidation of immunological and oncological transcriptomic signatures using translational ontologies and next-generation sequencing
… large amounts of information produced by next-generation sequencing requires the comprehensive integration of biological knowledge, appropriate statistical frameworks, and computational models. In this work, a series of computational approaches and analyses are presented which outline a path …
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Computational Methods for Accelerated Discovery and Characterization of Genes in Emerging Model Organisms
… underlying cause of a recently emerging class of genetic diseases collectively referred to as ciliopathies. The function and structure of cilia are conserved across all organisms with cilia. One of the most influential model systems used to study ciliopathies has been the ciliated green alga …
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Modeling Diamond-Blackfan Anemia in the Mouse: Disease Pathogenesis and Evaluation of Novel Therapies
… and cancer predisposition. Mutations in genes encoding ribosomal proteins have been identified in approximately 60-70% of DBA patients. Among these genes, ribosomal protein S19 (RPS19) is the most common disease gene (25% of the cases). All reported patients are heterozygous for the …
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Genetic and biochemical analysis of the Drosophila melanogaster homolog of the human SCA2 gene
The polyglutamine repeat diseases are a group of dominantly inherited neurodegenerative disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving expansion of a glutamine-encoding repeat in the corresponding genes. Work on …
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Molecular diagnosis in inherited polycystic kidney disease
Polycystic Kidney Disease (PKD) incorporates a number of genetically but not always phenotypically distinct inherited cystic kidney disorders. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, with an estimated prevalence of 1:1000. Though common, there are numerous …
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Algorithms for discovering disease genes by integrating 'omics data
… characterization of complex human diseases remains as one of the biggest challenges in the post-genomic era. Information useful for mechanistic understanding of diseases comes from different types of “-omic” data, including genomic sequences, gene expression, and molecular …
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