Browsing Genetics (Theses and Dissertations) by Title
Now showing items 41-60 of 196
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Decoding the Genetics of Inherited Retinal Diseases in Ireland
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2019)Title: Decoding the Genetics of Inherited Retinal Diseases in Ireland Short Description: The Target 5000 study aims to provide genetic testing for the estimated 5,000 people in Ireland who are affected by a genetic retinal ... -
Defining the role of the AP2/ERF transcription factors Rap2.4 and Rap2.4b in stress responses in the model plant Arabidopsis thaliana
(Trinity College (Dublin, Ireland). School of Genetics and Microbiology, 2010)This study characterises the molecular properties and the function of two Arahidopsis AP2/ERF transcription factors, Rap2.4 and Rap2.4b. The two genes belong to the DREB subgroup, members of which have been demonstrated ... -
Detection of pleiotropic repeat expansions and their oligogenic contribution to amyotrophic lateral sclerosis
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2023)This thesis aims to advance our understanding of the genetic mechanisms that contribute to amyotrophic lateral sclerosis (ALS). The focus is on investigating pleiotropy in genetic contributors to ALS by examining the ... -
Detection of selection in mammalian genomes and populations
(Trinity College (Dublin, Ireland). Department of Genetics, 2010)Genome-wide scans for evidence of positive selection in mammalian genomes have recently become possible with the availability of whole genome sequences. They offer a chance to identify those genes that were of most importance ... -
Development of gene therapies for retinal degenerations
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The studies described in this thesis explore potential gene therapies for retinal degenerative diseases using adeno-associated virus (AAV) vectors for gene delivery. Inherited retinal degenerations (IRDs) are a leading ... -
Different patterns of gain and loss in genomic evolution
(Trinity College (Dublin, Ireland). Department of Genetics, 2008)Evolutionary forces may act on the genome at different levels, from the change of single nucleotides to the duplication or rearrangement of whole chromosomes. Some of these evolutionary processes can be responsible for ... -
Dissecting the functional link between transcription factor codes and axon guidance genes in Drosophila motor neurons
(Trinity College (Dublin, Ireland). Department of Genetics, 2013)As axons navigate through the extracellular environment they are exposed to different guidance cues that will steer them when sensed by receptors and cell adhesion molecules [CAMS) present on their membranes. The intricate ... -
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 ...