Browsing by Subject "Genetics"
Now showing items 1-20 of 160
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Accurate Determination of Phenotypic Information from Historic Thoroughbred Horses by Single Base Extension
(PLoS, 2010)Historic DNA data have the potential to identify phenotypic information otherwise invisible in the historical, archaeological and palaeontological record. In order to determine whether a single nucleotide polymorphism ... -
The Adam family metalloprotease Kuzbanian regulates the cleavage of the roundabout receptor to control axon repulsion at the midline.
(2010)Slits and their Roundabout (Robo) receptors mediate repulsive axon guidance at the Drosophila ventral midline and in the vertebrate spinal cord. Slit is cleaved to produce fragments with distinct signaling properties. In ... -
Additions, losses, and rearrangements on the evolutionary route from a reconstructed ancestor to the modern Saccharomyces cerevisiae genome.
(PLoS, 2009)Comparative genomics can be used to infer the history of genomic rearrangements that occurred during the evolution of a species. We used the principle of parsimony, applied to aligned synteny blocks from 11 yeast species, ... -
Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy
(2020)Objectives: No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one ... -
Altered ribostasis: RNA-protein granules in degenerative disorders
(2013)The molecular processes that contribute to degenerative diseases are not well understood. Recent observations suggest that some degenerative diseases are promoted by the accumulation of nuclear or cytoplasmic RNA-protein ... -
Amino acid identity at one position within the alpha1 helix of both the histidine kinase and the response regulator of the WalRK and PhoPR two-component systems plays a crucial role in the specificity of phosphotransfer.
(2010)Two-component systems usually function as cognate pairs, thereby ensuring an appropriate response to the detected signal. The ability to exclusively phosphorylate a partner protein, often in the presence of many competing ... -
Analysis of gene evolution and metabolic pathways using the Candida Gene Order Browser.
(BioMed Central, 2010)Background: Candida species are the most common cause of opportunistic fungal infection worldwide. Recent sequencing efforts have provided a wealth of Candida genomic data. We have developed the Candida Gene Order Browser ... -
Analysis of hepatic gene transcription in mice expressing insulin-insensitive GSK3
(PubMed Central, 2005)GSK3 (glycogen synthase kinase-3) regulation is proposed to play a key role in the hormonal control of many cellular processes. Inhibition of GSK3 in animal models of diabetes leads to normalization of blood glucose levels, ... -
Ancestral Legacies of an Insular Archipelago: A genomic exploration of prehistoric Japan and mainland Asia
(Trinity College Dublin. School of Medicine. Discipline of Psychiatry, 2022)The objective of this thesis is to use ancient genomic data and a variety of bioinformatic approaches to explore human evolutionary history in the Japanese archipelago and mainland Asia. This thesis presents a dense genomic ... -
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 ... -
Assessment of Inactivating Stop Codon Mutations in Forty Saccharomyces cerevisiae Strains: Implications for [PSI] Prion- Mediated Phenotypes.
(2011)The yeast prion [PSI+] has been implicated in the generation of novel phenotypes by a mechanism involving a reduction in translation fidelity causing readthrough of naturally occurring stop codons. Some [PSI+] associated ... -
Bcl11b is essential for group 2 innate lymphoid cell development
(2015)Group 2 innate lymphoid cells (ILC2s) are often found associated with mucosal surfaces where they contribute to protective immunity, inappropriate allergic responses, and tissue repair. Although we know they develop from ... -
Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes.
(2011)One-carbon metabolism (OCM) is linked to DNA synthesis and methylation, amino acid metabolism and cell proliferation. OCM dysfunction has been associated with increased risk for various diseases, including cancer and neural ... -
Boundary cap cells constrain spinal motor neuron somal migration at motor exit points by a semaphorin-plexin mechanism
(2007)Background: In developing neurons, somal migration and initiation of axon outgrowth often occur simultaneously and are regulated in part by similar classes of molecules. When neurons reach their final destinations, however, ... -
Caspase-1 promiscuity is counterbalanced by rapid inactivation of the processed enzyme.
(2011)Members of the caspase family of cysteine proteases coordinate the highly disparate processes of apoptosis and inflammation. However, while hundreds of substrates for the apoptosis effector caspases (caspase-3 and caspase-7) ... -
CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression.
(2013)The chromatin remodeler CHD5 is expressed in neural tissue and is frequently deleted in aggressive neuroblastoma. Very little is known about the function of CHD5 in the nervous system or its mechanism of action. Here we ... -
ChloroMitoSSRDB: open source repository of perfect and imperfect repeats in organelle genomes for evolutionary genomics.
(2013)Microsatellites or simple sequence repeats (SSRs) are repetitive stretches of nucleotides (A, T, G, C) that are distributed either as single base pair stretches or as a combination of two- to six-nucleotides units that are ... -
Chromosomal G + C content evolution in yeasts: systematic interspecies differences, and GC-poor troughs at centromeres.
(2010)The G + C content at synonymous codon positions (GC3s) in genes varies along chromosomes in most eukaryotes. In Saccharomyces cerevisiae, regions of high GC3s are correlated with recombination hot spots, probably due to ...