Genetics: Recent submissions
Now showing items 61-80 of 578
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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 ... -
Using an automated ocular vascular analysis software tool to evaluate the role of the inner blood retinal barrier in AMD pathogenesis and examining its application in neurological disorders
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Despite being the most common cause of central retinal blindness globally, there is no treatment for end stage dry age related macular degeneration (AMD). The prevailing school of thought with regard to AMD pathogenesis ... -
Evidence from Drosophila Supports Higher Duplicability of Faster Evolving Genes
(2022)The faster rate of evolution of duplicated genes relative to singletons has been well documented in multiple lineages. This observation has generally been attributed to a presumed release from constraint following creation ... -
Reconstruction of proto-vertebrate, proto-cyclostome and proto-gnathostome genomes provides new insights into early vertebrate evolution.
(2021)Ancient polyploidization events have had a lasting impact on vertebrate genome structure, organization and function. Some key questions regarding the number of ancient polyploidization events and their timing in relation ... -
Evidence for sponges as sister to all other animals from partitioned phylogenomics with mixture models and recoding
(2021)Resolving the relationships between the major lineages in the animal tree of life is necessary to understand the origin and evolution of key animal traits. Sponges, characterized by their simple body plan, were traditionally ... -
Brain barriers virtual: an interim solution or future opportunity?
(2022)Background: Scientific conferences are vital communication events for scientists in academia, industry, and government agencies. In the brain barriers research field, several international conferences exist that allow ... -
Understanding the role of accessory components in regulation of the Polycomb Repressive Complex 2 in mESCs and cancer
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Polycomb Repressive Complex 2 is a chromatin regulatory complex composed of core subunits EZH1/2, EED, SUZ12 and RBBP4/7, around which several accessory components assemble in a mutually exclusive manner to form structurally ... -
Concussion and the severity of head impacts in mixed martial arts
(2020)Background: Concern about the consequences of head impacts in US football motivated researchers to investigate and develop instrumentation to measure the severity of these impacts. However, the severity of head impacts ... -
Tight Junctions of the Neurovascular Unit
(2021)The homeostatic balance of the brain and retina is maintained by the presence of the blood-brain and inner blood-retinal barrier (BBB/iBRB, respectively) which are highly specialized barriers. Endothelial cells forming the ... -
Blood-brain barrier associated tight junction disruption is a hallmark feature of major psychiatric disorders
(2020)Major psychiatric disorders affect 25% of the population. While genetic and environmental risk factors have been identified, the underlying pathophysiology of conditions, such as schizophrenia, bipolar disorder and major ... -
The blood-retina barrier in health and disease
(2021)The blood–retina barrier (BRB) is the term used to define the properties ofthe retinal capillaries and the retinal pigment epithelium (RPE), which sep-arate the systemic circulation from the retina. More specifically, the ... -
Systemic delivery of antagomirs during blood-brain barrier disruption is disease-modifying in experimental epilepsy
(2021)Oligonucleotide therapies offer precision treatments for a variety of neurological diseases, including epilepsy, but their deployment is hampered by the blood-brain barrier (BBB). Previous studies showed that intracerebr ... -
Claudin-5: A Pharmacological Target to Modify the Permeability of the Blood-Brain Barrier
(2021)Claudin-5 is the dominant tight junction protein in brain endothelial cells and exclusively limits the paracellular permeability of molecules larger than 400Da across the blood–brain barrier (BBB). Its pathological impairment ... -
SARM1 Ablation Is Protective and Preserves Spatial Vision in an In Vivo Mouse Model of Retinal Ganglion Cell Degeneration
(2022)The challenge of developing gene therapies for genetic forms of blindness is heightened by the heterogeneity of these conditions. However, mechanistic commonalities indicate key pathways that may be targeted in a ... -
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
(2022)Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both ... -
Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma
(2021)Previous studies have shown that glaucomatous Schlemm’s canal endothelial cells (gSCECs) are stiffer and associated with reduced porosity and increased extracellular matrix (ECM) material compared to SCECs from healthy ... -
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
(2022)Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation ... -
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
(2021)Introduction: Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, mani- festing variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective ... -
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
(2021)Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained ... -
A characterisation of gene duplicability: its determining factors and impact on duplicate evolution
(Trinity College Dublin. School of Genetics & Microbiology. Discipline of Genetics, 2022)Duplication, either through whole genome duplication or small-scale duplication, is a critical process in evolution. The duplication of genetic material provides ample opportunity for adaptation and innovation through the ...
