Genetics (Scholarly Publications): Recent submissions
Now showing items 21-40 of 360
-
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 ... -
Polycomb PHF19 binds H3K36me3 and recruits PRC2 and demethylase NO66 to embryonic stem cell genes during differentiation
(2012)Polycomb group proteins are repressive chromatin modifiers with essential roles in metazoan development, cellular differentiation and cell fate maintenance. How Polycomb proteins access active chromatin to confer transcriptional ... -
Simultaneous disruption of PRC2 and enhancer function underlies histone H3.3-K27M oncogenic activity in human hindbrain neural stem cells.
(2021)Driver mutations in genes encoding histone H3 proteins resulting in p.Lys27Met substitutions (H3-K27M) are frequent in pediatric midline brain tumors. However, the precise mechanisms by which H3-K27M causes tumor initiation ... -
Exceptional ancient DNA preservation and fibre remains of a Sasanian saltmine sheep mummy in Chehrābād
(2021)Mummified remains have long attracted interest as a potential source of ancient DNA. However, mummification is a rare process that requires an anhydrous environment to rapidly dehydrate and preserve tissue before complete ... -
Epistatic and Independent Effects on Schizophrenia-Related Phenotypes Following Co-disruption of the Risk Factors Neuregulin-1 × DISC1
(2017)Few studies have addressed likely gene × gene (ie, epistatic) interactions in mediating risk for schizophrenia. Using a preclinical genetic approach, we investigated whether simultaneous disruption of the risk factors ... -
Synaesthesia lost and found: two cases of person- and music-colour synaesthesia
(2017)Synaesthesia is a developmental condition involving cross-communication between sensory modalities or substreams whereby an inducer (e.g. a sound) automatically evokes a concurrent percept in another modality (e.g. a ... -
Neurogenomics - towards a more rigorous science
(2018)The field of neurogenomics is coming of age, but not without some teething problems. The aim of this field is to understand the genetic basis of differences in brain structure and function, which in turn underlie differences ... -
The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia
(2019)A recent development in the genetic architecture of schizophrenia suggested that an omnigenic model may underlie the risk for this disorder. The aim of our study was to use polygenic profile scoring to quantitatively assess ... -
Data for 3D reconstruction of the corticospinal tract in the wild-type and Semaphorin 6A knockout adult brain
(2019)The corticospinal tract (CST) has a complex and long trajectory throughout the brain. Semaphorin 6A (Sema6A), a member of the semaphorin family, is one of the important regulators of CST axon guidance. Previous studies ... -
Remarkable complexity and variability of corticospinal tract defects in adult Semaphorin 6A knockout mice
(2019)The corticospinal tract (CST) has a complex and long trajectory that originates in the cerebral cortex and ends in the spinal cord. Semaphorin 6A (Sema6A), a member of the semaphorin family, is an important regulator of ...
