Browsing Genetics (Scholarly Publications) by Date of Publication
Now showing items 21-40 of 357
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Sensitivity of Photoreceptor-Derived Cell Line (661W) to Baculoviral p35, Z-VAD.FMK, and Fas-Associated Death Domain
(Association for Research in Vision and Ophthalmology, 2002)PURPOSE: Rod, cone, cone-rod, and macular dystrophies eventually bring about the death of cone photoreceptor cells. The present study explores means of inhibiting apoptosis in addition to inducing a specific apoptotic ... -
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. ... -
Extensive gene gain associated with adaptive evolution of poxviruses
(2003)Previous studies of genome evolution usually have involved one or two genomes and have thus been limited in their ability to detect the direction and rate of evolutionary change. Here, we use complete genome data from 20 ... -
RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP
(Springer, 2003)Given that mutant COL1A1 is known to cause Osteogenesis Imperfecta (OI), tools to modulate COL1A1 expression are likely to be of significant therapeutic value. In this context, we have evaluated RNA interference (RNAi) as ... -
Evidence from comparative genomics for a complete sexual cycle in the "asexual" pathogenic yeast Candida glabrata
(BioMed Central, 2003)BACKGROUND: Candida glabrata is a pathogenic yeast of increasing medical concern. It has been regarded as asexual since it was first described in 1917, yet phylogenetic analyses have revealed that it is more closely related ... -
Transplantation of syngeneic schwann cells to the retina of the rhodopsin knockout (Rho-/-) mouse
(The Association for Research in Vision and Ophthalmology, Inc., 2003)PURPOSE: To determine whether subretinal Schwann cell transplantation can prolong the survival of photoreceptors in the rhodopsin knockout (rho(-/-)) mouse. METHODS: Schwann cells were prepared from postnatal day (PN) 5 ... -
LineUp: Statistical Detection of Chromosomal Homology with Application to Plant Comparative Genomics
(2003)The identification of homologous regions between chromosomes forms the basis for studies of genome organization, comparative genomics, and evolutionary genomics. Identification of these regions can be based on either synteny ... -
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene
(Molecular Vision, 2003)PURPOSE: To determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly characterized gene, named retinitis pigmentosa 1-like 1(RP1L1). Since mutations in the RP1 gene cause ... -
Smac/Diablo antagonizes ubiquitin ligase activity of inhibitor of apoptosis proteins
(2004)Inhibitor of apoptosis proteins (IAPs) can block apoptosis through binding to active caspases and antagonizing their function. IAP function can be neutralized by Smac/Diablo, an IAP-binding protein that is released from ... -
Caspase-dependent inactivation of proteasome function during programmed cell death in Drosophila and man
(The American Society for Biochemistry and Molecular Biology, 2004)The caspase family of cysteine proteases plays a conserved role in the coordinate demolition of cellular structures during programmed cell death from nematodes to man. Because cells undergoing programmed cell death in ... -
Genomic Features in the Breakpoint Regions between Syntenic Blocks
(Oxford University Press, 2004)MOTIVATION: We study the largely unaligned regions between the syntenic blocks conserved in humans and mice, based on data extracted from the UCSC genome browser. These regions contain evolutionary breakpoints caused by ... -
PubCrawler: keeping up comfortably with PubMed and GenBank
(Oxford University Press, 2004)The free PubCrawler web service (http://www.pubcrawler.ie) has been operating for five years and so far has brought literature and sequence updates to over 22 000 users. It provides information on a personalized web page ... -
Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods
(Association for Research in Vision and Ophthalmology, 2004)PURPOSE. To assess the structural changes in the retina caused by a functional blockade of rods and cones and to document the time course of their degeneration. METHODS. Double knockout mice were generated by cross-breeding ... -
RNAi of COL1A1 in mesenchymal progenitor cells
(Nature Publishing Group, 2004)Given that mutant COL1A1 is known to cause Osteogenesis Imperfecta (OI), tools to modulate COL1A1 expression are likely to be of significant therapeutic value. In this context, we have evaluated RNA interference (RNAi) as ... -
Interchain proteolysis, in the absence of a dimerization stimulus, can initiate apoptosis-associated caspase-8 activation
(2004)Caspases coordinate the internal demolition of the cell that is seen during apoptosis. Proteolytic processing of caspases is observed during apoptosis, and this correlates with conversion of inactive caspase proenzymes ... -
Clusters of co-expressed genes in mammalian genomes are conserved by natural selection
(Oxford University Press, 2005)Genes that belong to the same functional pathways are often packaged into operons in prokaryotes. However, aside from examples in nematode genomes, this form of transcriptional regulation appears to be absent in eukaryotes. ... -
Porter: a new, accurate server for protein secondary structure prediction
(Oxford University Press, 2005)Porter is a new system for protein secondary structure prediction in three classes. Porter relies on bidirectional recurrent neural networks with shortcut connections, accurate coding of input profiles obtained from multiple ... -
Changes in alternative splicing of human and mouse genes are accompanied by faster evolution of constitutive exons
(Oxford University Press, 2005)Alternative splicing is known to be an important source of protein sequence variation, but its evolutionary impact has not been explored in detail. Studying alternative splicing requires extensive sampling of the transcriptome, ... -
Cone opsin mislocalization in Rpe65-/- mice: A defect that can be corrected by 11-cis retinal
(The Association for Research in Vision and Ophthalmology, Inc., 2005)PURPOSE: In retinal degenerative diseases, rod photoreceptors typically deteriorate more rapidly than cone photoreceptors. In the Rpe65(-/-) mouse, a model for Leber's congenital amaurosis, cones degenerate much more rapidly ...