Browsing Genetics (Theses and Dissertations) by Title
Now showing items 48-67 of 196
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Effect of gene structure changes on the rate of protein sequence evolution
(Trinity College (Dublin, Ireland). Department of Genetics, 2007)The elaborate architecture of the genes of niulticellular eukaryotes is likely to underpin the unique complexity of eukaryotic gene functions. The structure of eukaryotic genes differs from that of prokaryotes and represents ... -
Evolution of the genomes of two nematodes in the genus Caenorhabditis
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)The soil-dwelling nematode Caenorhabditis elegans has been intensively studied as a model organism for the last 40 years. It was the first animal for which we had a complete description of development, anatomy, a neural ... -
Evolution of the OmpR regulon in Salmonella enterica serovar Typhimurium and Escherichia coli in response to low pH
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2013)Two-component systems (TCS) enable bacteria to sense, respond and adapt to a wide range of environmental stimuli. The OmpR/EnvZ TCS is composed of the inner membrane sensor kinase EnvZ and the response regulator OmpR. In ... -
Evolution of vertebrate genome organisation
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)The increasing availability of genomic sequences from different vertebrate organisms affords molecular biologists the opportunity to thoroughly investigate phenomena that were only hinted at by more sparse data. The work ... -
Evolutionary genomics of filamentous fungi
(Trinity College (Dublin, Ireland). Department of Genetics, 2008)Filamentous fungi are important producers of secondary metabolites (SMs), together with plants and bacteria. While some SMs are toxic to humans, animals or plants, many others are beneficial. The discovery that the genes ... -
Examination of transcriptional regulation and functional roles of axon guidance receptors in Drosophila dorsal vessel formation
(Trinity College (Dublin, Ireland). Department of Genetics, 2014)Early steps of cardiogenesis in vertebrates and invertebrates are similar in that in both systems, bilateral rows of cardiac progenitors migrate towards a point where the two rows meet and make a tubular structure. As with ... -
Examinations of DRD4, DRD5 and SNAP-25 as candidate genes in Attention Deficit Hyperactivity Disorder
(Trinity College (Dublin, Ireland). Department of Genetics, 2005)Attention deficit hyperactivity disorder (ADHD) is a common early onset childhood disorder. Symptoms o f the disorder include inattentiveness, impulsiveness, distractibility and hyperactivity. Family, twin and adoption ... -
Examining the Role of Ataxin-2 Protein and its Domains in Cellular Function, Translational Control and Neurodegeneration
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)Ataxin-2 (ATXN2) is a gene implicated in spinocerebellar ataxia type II (SCA2), amyotrophic lateral sclerosis (ALS) and Parkinsonism. The encoded protein is a therapeutic target for ALS and related conditions. ATXN2 (or ... -
Exploration of a therapeutic strategy for osteogenesis imperfecta
(Trinity College (Dublin, Ireland). Department of Genetics, 2007)The studies described in this thesis focus upon an RNAi-base therapeutic approach for the treatment of Col1A1 linked Osteogenesis Imperfecta (OI). OI is an autosomal dominant negative disorder in w hich the presence of ... -
Exploration of an AAV-mediated TULP1 replacement gene therapy and characterization of the Tulp1-/- murine model
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The vertebrate family of tubby-like proteins (TULPs) include the founding member TUB and related members of the tubby-like protein family such as TULP1, TULP2, TULP3, TULP4. TULP1 encoded by TULP1 gene is believed to play ... -
Exploration of gene therapies targeting oxidative stress and NAD+ pathways for the treatment of optic neuropathy
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)The World Health Organisation estimates that there are approximately 300 million people suffering from some form of blindness, from inherited retinal degenerations to complex diseases such as glaucoma. The vast heterogeneity ... -
An Exploration of Mitochondrially Targeted Gene Therapies for Ocular Disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)Mitochondria play a vital role in numerous fundamental processes of the cell such as ATP synthesis, cellular signalling, reactive oxygen species production, calcium regulation and apoptosis to name but a few. Given their ... -
Exploration of novel therapeutics for autosomal dominant Retinitis Pigmentosa
(Trinity College (Dublin, Ireland). Department of Genetics, 2006)This thesis is concerned with exploration of a suppression and replacement therapeutic approach for the dominant form of Retinitis Pigmentosa (ADRP). Retinitis Pigmentosa is the most heterogeneous of all hereditary disorders ... -
Exploration of RNAi-based therapeutic strategies for dominantly inherited disorders
(Trinity College (Dublin, Ireland). Department of Genetics, 2006)The primary aim of this thesis was to explore genetic agents with the ability to suppress expression of certain gene products i.e. those involved in the etiology of dominant disorders such as osteogenesis imperfecta (OI) ... -
Exploration of RNAi-based theraupeutic strategies for Dominant Dystrophic Epidermolysis Bullosa
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2011)The main focus of this Ph.D. thesis centres on exploration of a potential gene therapy for treatment of the dystrophic form of the rare blistering skin disorder Epidermolysis Bullosa (EB). There are three main subtypes of ... -
Exploration of thyrotropin releasing hormone-degrading ectoenzyme (TRH-DE) suppression and localisation in retina
(Trinity College (Dublin, Ireland). Department of Genetics, 2007)Since the identification of thyrotropin releasing hormone (TRH), and its respective degrading enzyme (thyrotropin releasing hormone degrading ectoenzyme, TRH-DE) outside of the hypothalamic-pituitary-thyroid axis, the ... -
Explorations of miRNA expression in the mammalian retina
(Trinity College (Dublin, Ireland). Department of Genetics, 2009)MicroRNAs (miRs) are an abundant class of non-coding RNAs which, for the most part were undiscovered until early this decade (Lagos-Quintana et al. 2001; Lee et al. 2001). Mature miR transcripts are small (~22 nucleotides) ... -
Exploring the functions of PRC2 in development and congenital disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb group (PcG) proteins are key chromatin-based repressors of gene expression that play important roles in lineage-specification and cellular memory. PcG proteins assemble into multi-subunit complexes, termed Polycomb ... -
Exploring the Genetics of Unresolved Inherited Retinal Diseases in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)The Target 5000 study was established in 2009 with a primary goal to develop a national care pathway for inherited retinal disease patients in Ireland. Participants first undergo a clinical assessment, which includes ... -
Exploring the role of granzymes in the induction of apoptosis
(Trinity College (Dublin, Ireland). Department of Genetics, 2009)Cytotoxic Lymphocytes (CTL) and Natural Killer (NK) cells provide the body with a powerful defence against viral infection, intracellular pathogens and tumor development. After identifying an infected or damaged cell, ...