Genetics (Scholarly Publications): Recent submissions
Now showing items 321-340 of 360
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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 ... -
Interacting gene clusters and the evolution of the vertebrate immune system.
(2008)Unraveling the "code" of genome structure is an important goal of genomics research. Colocalization of genes in eukaryotic genomes may facilitate preservation of favorable allele combinations between epistasic loci or ... -
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 ... -
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 ... -
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 ... -
Estimation of synteny conservation and genome compaction between pufferfish (Fugu) and human.
(2000)BACKGROUND: Knowledge of the amount of gene order and synteny conservation between two species gives insights to the extent and mechanisms of divergence. The vertebrate Fugu rubripes (pufferfish) has a small genome with ... -
Recent de novo origin of human protein-coding genes.
(2009)The origin of new genes is extremely important to evolutionary innovation. Most new genes arise from existing genes through duplication or recombination. The origin of new genes from noncoding DNA is extremely rare, and ... -
Evidence of balanced diversity at the chicken interleukin 4 receptor alpha chain locus
(2009)BACKGROUND: The comparative analysis of genome sequences emerging for several avian species with the fully sequenced chicken genome enables the genome-wide investigation of selective processes in functionally important ... -
RNA interference-mediated suppression and replacement of human rhodopsin in vivo.
(Elsevier, 2007)Mutational heterogeneity represents a significant barrier to development of therapies for many dominantly inherited diseases. For example, >100 mutations in the rhodopsin gene (RHO) have been identified in patients with ... -
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
(2008)Mutations within the inosine 5'-monophosphate dehydrogenase 1 (IMPDH1) gene cause the RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to ... -
A new genetic model of activity-induced Ras signaling dependent pre-synaptic plasticity in Drosophila
(2010)Techniques to induce activity-dependent neuronal plasticity in vivo allow the underlying signaling pathways to be studied in their biological context. Here, we demonstrate activity-induced plasticity at neuromuscular ... -
Compensatory evolution of gene regulation in response to stress by Escherichia coli lacking RpoS.
(2009)The RpoS sigma factor protein of Escherichia coli RNA polymerase is the master transcriptional regulator of physiological responses to a variety of stresses. This stress response comes at the expense of scavenging for ... -
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 ... -
Pivotal Advance: Avian colony-stimulating factor 1 (CSF-1), interleukin-34 (IL-34), and CSF-1 receptor genes and gene products
(2010)Macrophages are involved in many aspects of development, host defense, pathology, and homeostasis. Their normal differentiation, proliferation, and survival are controlled by CSF-1 via the activation of the CSF-1R. A ... -
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
(2002)Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we ... -
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta
(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. ... -
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 ... -
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 ... -
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 ... -
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 ...