Genetics (Theses and Dissertations)
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Fundus Fluorescein Angiography (FFA) in Human Subjects Displays Circadian Variation
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2021)The relationship between retinal inner blood-retina barrier (iBRB) permeability, the circadian clock and their possible role in retinal pathology is unknown. We performed quantitative fundus fluorescein angiography (FFA) ... -
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 ... -
Investigating the Role of the 3'UTR of Claudin-5 and Circadian Rhythms at Tight Junctions in the Blood-Brain Barrier
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)The blood-brain barrier (BBB) is comprised of the vasculature surrounding the central nervous system (CNS), and most importantly consists of endothelial cells. These brain endothelial cells have unique properties that ... -
Functional assessment of non-coding regulatory variants in familial breast cancer
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2020)Breast cancer is the most common cancer in Irish women, with almost 3,000 cases diagnosed every year. It often runs in families, and some women inherit a greater risk of developing the disease. Landmark studies on these ... -
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 ...