RSS 1.0Genetics (Scholarly Publications)
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Myeloid cell-derived proteases produce a proinflammatory form of IL-37 that signals via IL-36 receptor engagement
(2022)Interleukin-1 (IL-1) family cytokines are key barrier cytokines that are typically expressed as inactive, or partially active, precursors that require proteolysis within their amino termini for activation. IL-37 is an ... -
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
(2023)The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of pheno types, however, for thousands of cases the underlying variants remain unknown. Here, we aim ... -
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
(2023)Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic ... -
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
(2023)Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is ... -
Molecular inversion probe-based sequencing of ush2a exons and splice sites as a cost-effective screening tool in ush2 and arrp cases
(2021)A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. ... -
Optimisation of AAV-NDI1 Significantly Enhances Its Therapeutic Value for Correcting Retinal Mitochondrial Dysfunction
(2023)AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical ... -
MFRP -Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
(2022)The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes ... -
siRNA targeting Schlemm's canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model
(2021)Systemic or localized application of glucocorticoids (GCs) can lead to iatrogenic ocular hypertension, which is a leading cause of secondary open-angle glaucoma and visual impair ment. Previous work has shown that ... -
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
(2020)Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy ... -
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
(2023)Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that ... -
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
(2022)Macular degenerations (MDs) are a subgroup of retinal disorders characterized by central vision loss. Knowledge is still lacking on the extent of genetic and nongenetic factors influencing inherited MD (iMD) and age-related ... -
AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice
(2022)Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy ap proaches; however, there is a need to further improve the effi cacy, tropism, and safety of these ... -
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 ... -
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 ...
