Browsing Genetics (Scholarly Publications) by Title
Now showing items 336-355 of 356
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The uneasy correspondence between T. H. Huxley and E. P. Wright on fossil vertebrates found in Jarrow, Co. Kilkenny (1865-67)
(2011)The collection of Carboniferous fish and amphibian fossils found in Jarrow in 1864 has been the object of several studies, and has resided successively in at least three Irish museums. This paper draws from the Huxley ... -
Upper Palaeolithic genomes reveal deep roots of modern Eurasians.
(2015)We extend the scope of European palaeogenomics by sequencing the genomes of Late Upper Palaeolithic (13,300 years old, 1.4-fold coverage) and Mesolithic (9,700 years old, 15.4-fold) males from western Georgia in the Caucasus ... -
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 ... -
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 ... -
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta
(Oxford University Press, 2002)Over 100 dominant-negative mutations within the COL1A1 gene have been identified in osteogenesis imperfecta (OI). In terms of human therapeutics, targeting each of these mutations independently is unlikely to be feasible. ... -
Variance components for bovine tuberculosis infection and multi-breed genome-wide association analysis using imputed whole genome sequence data
(2019)Bovine tuberculosis (bTB) is an infectious disease of cattle generally caused by Mycobacterium bovis, a bacterium that can elicit disease humans. Since the 1950s, the objective of the national bTB eradication program in ... -
Variance components for susceptibility to Mycobacterium bovis infection in dairy and beef cattle
(2014)Open Access Research Variance components for susceptibility to Mycobacterium bovis infection in dairy and beef cattle Ian W Richardson12, Dan G Bradley1, Isabella M Higgins3, Simon J More3, Jennifer McClure4 and Donagh ... -
The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis.
(2015)PCGF1 encodes one of six human Polycomb RING finger homologs that are linked to transcriptional repression and developmental gene regulation. Individual PCGF proteins define discrete Polycomb Repressor Complex 1 (PRC1) ... -
Versatile Dual Reporter Gene Systems for Investigating Stop Codon Readthrough in Plants
(2009)Background Translation is most often terminated when a ribosome encounters the first in-frame stop codon (UAA, UAG or UGA) in an mRNA. However, many viruses (and some cellular mRNAs) contain ?stop? codons that cause a ... -
Visualizing syntenic relationships among the hemiascomycetes with the Yeast Gene Order Browser
(Oxford University Press, 2006)The Yeast Gene Order Browser (YGOB) is an online tool designed to facilitate the comparative genomic visualization and appraisal of synteny within and between the genomes of seven hemiascomycete yeast species. Three of ... -
What Tyndall read: provenance, contents and significance of the Proby Bequest to Carlow Library
(CARLOW HISTORICAL AND ARCHAEOLOGICAL SOCIETY, 2011-11-30)We give a preliminary description of the provenance and contents of the library that the Tyndalls kept in Hind Head House, in Surrey, and the path it followed to end up in the Carlow County Council Library. For the provenance ... -
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 whole mitochondria analysis of the Tyrolean Iceman's leather provides insights into the animal sources of Copper Age clothing
(2016)The attire of the Tyrolean Iceman, a 5,300-year-old natural mummy from the Ötzal Italian Alps, provides a surviving example of ancient manufacturing technologies. Research into his garments has however, been limited by ... -
Whole-transcriptome, high-throughput RNA sequence analysis of the bovine macrophage response to Mycobacterium bovis infection in vitro
(BioMed Central Ltd, 2013)Background Mycobacterium bovis, the causative agent of bovine tuberculosis, is an intracellular pathogen that can persist inside host macrophages during infection via a diverse range of mechanisms that subvert the host ... -
Why should we care about molecular coevolution?
(2008)Abstract: Non-independent evolution of amino acid sites has become a noticeable limitation of most methods aimed at identifying selective constraints at functionally important amino acid sites or protein regions. The ... -
The Yeast Gene Order Browser: combining curated homology and syntenic context reveals gene fate in polyploid species
(2005)We developed the Yeast Gene Order Browser (YGOB; http://wolfe.gen.tcd.ie/ygob) to facilitate visual comparisons and computational analysis of synteny relationships in yeasts. The data presented in YGOB, currently covering ...