Browsing School of Medicine by Sponsor "Wellcome Trust"
Now showing items 1-20 of 47
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Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology.
(2010)Cytoplasmic ubiquitin-positive inclusions containing TAR-DNA-binding protein-43 (TDP-43) within motor neurons are the hallmark pathology of sporadic amyotrophic lateral sclerosis (ALS). TDP-43 is a nuclear protein and the ... -
Bipolar affective puerperal psychosis- genome-wide significant evidence for linkage to chromosome 16.
(American Psychiatric Publishing, 2007)OBJECTIVE: Vulnerability to the triggering of bipolar episodes by childbirth aggregates in families and may define a genetically relevant subtype of bipolar disorder. The authors conducted a search by systematic whole ... -
The c-Abl tyrosine kinase phosphorylates the Fe65 adaptor protein to stimulate Fe65/amyloid precursor protein nuclear signaling.
(American Society for Biochemistry and Molecular Biology, 2004)The amyloid precursor protein (APP) is proteolytically processed to release a C-terminal domain that signals to the nucleus to regulate transcription of responsive genes. The APP C terminus binds to a number of phosphotyrosine ... -
A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations
(Springer, 2005)Substantial evidence suggests that a low folate/high homocysteine phenotype is pathogenic. We analyzed the impact of the thymidylate synthase (TYMS) 3UTR ins/del polymorphism on folate and homocysteine levels and assessed ... -
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes
(2011)Metformin is the most commonly used pharmacological therapy for type 2 diabetes. We carried out a GWA study on glycaemic response to metformin in 1024 Scottish patients with type 2 diabetes. Replication was in two cohorts ... -
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
(2012)Psoriasis is a common, chronic, inflammatory skin disorder. A number of genetic loci have been shown to confer risk for psoriasis. Collectively, these offer an integrated model for the inherited basis for susceptibility ... -
Cyclooxygenase-2 inhibition improves amyloid-beta-mediated suppression of memory and synaptic plasticity
(Oxford University Press, 2008)Non-steroidal anti-inflammatory agents (NSAIDs) are associated with a marked reduction in the risk of developing Alzheimer's disease, a form of dementia characterized by the accumulation of amyloid plaques containing the ... -
Decoy receptors in the regulation of T Helper cell type 2 response
(The Rockefeller University Press, 2003) -
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
(Oxford University Press, 2010)We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was attempted in an additional cohort of 1039 ... -
Dissociation in performance of children with ADHD and high-functioning autism on a task of sustained attention.
(Elsevier, 2007)Attention deficit hyperactivity disorder (ADHD) and autism are two neurodevelopmental disorders associated with prominent executive dysfunction, which may be underpinned by disruption within fronto-striatal and fronto-parietal ... -
Early Immune Responses to Emerging and Enduring Respiratory Pathogens
(Trinity College Dublin. School of Medicine. Discipline of Clinical Medicine, 2024)For most of recent history, Tuberculosis (TB) has been the leading cause of death by an infective agent worldwide. Tuberculosis is caused by Mycobacterium tuberculosis (Mtb), which infects human lungs following respiratory ... -
Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris.
(2011)OBJECTIVE: /st> There is great interest in the identification of genetic factors that differentiate psoriatic arthritis (PsA) from psoriasis vulgaris (PsV), as such discoveries could lead to the identification of distinct ... -
Experience-dependent plasticity in visual cortex: Dendritic spines and visual responsiveness.
(2011)To determine the relationship between synaptic structural changes and cortical function, we recently published a study where we imaged dendritic spines using two-photon in vivo microscopy while monitoring network activity ... -
Exploration of empirical Bayes hierarchical modeling for the analysis of genome-wide association study data.
(2011)In the analysis of genome-wide association (GWA) data, the aim is to detect statistical associations between single nucleotide polymorphisms (SNPs) and the disease or trait of interest. These SNPs, or the particular regions ... -
Exploring the molecular mechanisms of Rett syndrome
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2020)Rett Syndrome (RTT) is a severe neurological disorder that onsets between 6 to 18 months of age, after a period of apparently normal development. RTT affects approximately 1 in every 10000 to 15000 live births and is ... -
Expression of the Neuronal Adaptor Protein X11alpha Protects Against Memory Dysfunction in a Transgenic Mouse Model of Alzheimer's Disease
(2010)X11? is a neuronal-specific adaptor protein that binds to the amyloid-? protein precursor (A?PP). Overexpression of X11? reduces A? production but whether X11? also protects against A?-related memory dysfunction is not ... -
Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content.
(Oxford University Press, 2007)Amyotrophic lateral sclerosis (ALS) is a late-onset neurological disorder characterized by death of motoneurons. Mutations in Cu/Zn superoxide dismutase-1 (SOD1) cause familial ALS but the mechanisms whereby they induce ... -
Fine mapping of ZNF804A and genomime-wide significant evidence for it's involvement in Schizophrenia and bipolar disorder.
(2011)A recent genome-wide association study (GWAS) reported evidence for association between rs1344706 within ZNF804A (encoding zinc-finger protein 804A) and schizophrenia (P=1.61 × 10(-7)), and stronger evidence when the ...