Genetics (Theses and Dissertations): Recent submissions
Now showing items 121-140 of 218
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Gene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)The purpose of this Ph.D. thesis has been to contribute towards the generation of therapies for inherited disorders such as retinitis pigmentosa (RP) and osteogenesis imperfecta (OI). In chapter 2, a novel mitochondrial ... -
On the development of animal models for degenerative retinal disease
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)Retinitis pigmentosa (RP) is one of the leading causes of inherited blindness within the working population of many developed countries. There is presently no cure for this disorder. The projects outlined in this thesis ... -
Molecular genetic investigations of the diversity and origins of Old and New World cattle population
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)One hundred and forty-nine Bos indicus mitochondrial DNA (mtDNA) control region sequences sampled from the Indian subcontinent, the Near East and East Asia were assessed in order to investigate the domestic origins and ... -
On the molecular genetics of bipolar affective disorder
(Trinity College (Dublin, Ireland). Department of Genetics, 2005)This thesis describes genome-wide gene mapping analyses as applied to bipolar affective disorder (BPAD). This condition is a severe recurrent psychiatric disorder, with a substantial familial component and an estimated ... -
On the molecular genetics of retinal dystrophies and glaucoma
(Trinity College (Dublin, Ireland). Department of Genetics, 2000)The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the eye. Previous linkage studies on a large Spanish kindred (family FA-84), segregating adRP, resulted ... -
On the molecular genetics of bipolar disorder
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)A modified genome scan, concentrating primarily on gene rich regions of the genome was employed by this group to search for regions harboring susceptibility loci for bipolar disorder in a panel of 48 Irish sib-pair families ... -
Genetic admixture analysis of domesticated cattle
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)Genetic admixture analysis of bovine hybrid zones was carried out through implementation of a variety of statistical and analytical methods. Population genetic analysis of microsatellite variation in seven cattle breeds ... -
Genetic variation in domesticated cattle and wild aurochsen using ancient and modern data
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)A total of 101 Bos taurus teeth and bones aged between 1,000 to 9,000 years old, and 45 B. primigenius primigenius bones aged between 3,720 to 12,380 years old, were assessed for the presence of verifiable mitochondrial ... -
Characterization of two genes transcribed from a divergent promotor in Arabidopsis thaliana and encoding plastid-targeted proteins
(Trinity College (Dublin, Ireland). Department of Genetics, 2001)As part of the Arabidopsis genome sequencing project, approximately 85kb of sequence data on chromosome 4 was generated in this laboratory. This included a cosmid clone called cAt4S5 containing a genomic insert of 13.3kb ... -
Investigation of the YycFG two-component signal transduction system in Bacillus subtilis
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)The work in this thesis describes a novel approach to investigating the YycFG two-component signal transduction system of Bacillus subtilis. The YycFG TCSTS was found to be the only essential two-component signal transduction ... -
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 ... -
Transformation and marker gene removal strategies for the plastid genome of Brassica napus
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)Despite the fact that the first transplastomic higher plant was produced more than a decade ago, transformation of the plastid genome and the regeneration of homoplasmic, fertile plants has so far been achieved in only 2 ... -
Cloning and functional characterisation of genes involved in cell death and cell survival
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)During development and as a result of infection or injury, individual cells of multicellular organisms are required to mount appropriate survival or death responses. Two main signalling pathways are responsible for these ... -
Characterization of Arabidopsis homologs of the Drosophila SET domain gene Su(var)3-9
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)SET domain-containing proteins encoded by the Drosophila gene Su(var)3-9 and its human homologue, SUV39H1, are major regulators of heterochromatin formation. The SET domains of these proteins carry histone methyltransferase ... -
On the role of caspase-recruitment domain proteins in apoptosis and NFkB activation
(Trinity College (Dublin, Ireland). Department of Genetics, 2002)Apoptosis and NFkB activation are two physiological processes that are essential for host mediated response to cellular injury. Apoptosis is a mechanism that removes damaged or unwanted cells. NFkB is a transcription factor ... -
The development of gene therapy techniques and animal models for Retinitis Pigmentosa and towards the identification of a novel RP-causing gene in a family of Irish origin
(Trinity College (Dublin, Ireland). Department of Genetics, 2003)The work presented in this thesis pertains to several different stages in the preclinical development of therapeutics for inherited retinal disease. Chapter two addresses the difficult challenge of delivery of therapeutics ... -
An investigation of the role of caspase-9-interacting proteins in the molecular control of apoptosis
(Trinity College (Dublin, Ireland). Department of Genetics, 2001)Apoptosis is an important homeostatic mechanism that multicellular organisms utilize to delete cells during development and on an ongoing basis in the adult. At the molecular level, this requires the activation of a family ... -
On the molecular genetics of hereditary degenerative retinopathies
(Trinity College (Dublin, Ireland). Department of Genetics, 2004)The central aim of this thesis was the elucidation of the underlying molecular pathologies of inherited diseases of the retina. The main focus of study concentrates on the molecular genetics and disease mechanisms in ... -
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 ... -
The identification and functional characterization of substrates of the C. elegans caspase CED-3
(Trinity College (Dublin, Ireland). Department of Genetics, 2007)The founding member of the caspase family of proteases is the C. elegans caspase, CED-3. CED-3 is the only caspase required for programmed cell deaths in the worm, but we know very little about how this protease coordinates ...
