Browsing Genetics by Sponsor "Health Research Board (HRB)"
Now showing items 1-9 of 9
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Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis
(2010)Objective: To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF. Methods: Allelic ... -
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 ... -
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 ... -
Gene expression changes during retinal development and rod specification
(2015)Purpose: Retinitis pigmentosa (RP) typically results from individual mutations in any one of >70 genes that cause rod photoreceptor cells to degenerate prematurely, eventually resulting in blindness. Gene therapies ... -
Interchain proteolysis, in the absence of a dimerization stimulus, can initiate apoptosis-associated caspase-8 activation
(2004)Caspases coordinate the internal demolition of the cell that is seen during apoptosis. Proteolytic processing of caspases is observed during apoptosis, and this correlates with conversion of inactive caspase proenzymes ... -
Panel-Based population next-generation sequencing for inherited retinal degenerations
(2016)Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these ... -
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90)
(2010)Retinitis pigmentosa (RP) is the most prevalent cause of registered visual handicap among working aged populations of developed countries. Up to 40% of autosomal dominant cases of disease are caused by mutations within the ... -
Smac/Diablo antagonizes ubiquitin ligase activity of inhibitor of apoptosis proteins
(2004)Inhibitor of apoptosis proteins (IAPs) can block apoptosis through binding to active caspases and antagonizing their function. IAP function can be neutralized by Smac/Diablo, an IAP-binding protein that is released from ...
