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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. ...
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 ...
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 ...
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 ...
Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa.
(BioMed Central, 2007)
Background
The role played by microRNAs (miRs) as common regulators in physiologic processes such as development and various disease states was recently highlighted. Retinitis pigmentosa (RP) linked to RHO (which encodes ...
Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram.
(Association for Research in Vision and Ophthalmology, 2008)
PURPOSE. Both implicit time and amplitude of the cone-mediated electroretinographic (ERG) b-wave differ significantly between the C57BL/6JOlaHsd and 129S2/SvHsd inbred mouse strains. The purpose of this work was to undertake ...
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
(Nature Publishing Group, 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 ...
Synaptic plasticity in GNGA3-/- mice: Cone bipolar cells react up0onthe missing cone input and form ectopic synapses with rods
(The Society for Neuroscience, 2006)
In the mammalian retina, rods and cones connect to distinct sets of bipolar cells. Rods are presynaptic to a single type of rod bipolar cell, whereas cones connect to different types of cone bipolar cells. Synaptic rewiring ...
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 ...
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 ...