Browsing Genetics by Author "HUMPHRIES, PETER"
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Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa.
FARRAR, JANE; HUMPHRIES, PETER (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 ... -
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene
HUMPHRIES, PETER (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 ... -
Cone opsin mislocalization in Rpe65-/- mice: A defect that can be corrected by 11-cis retinal
HUMPHRIES, PETER (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 ... -
Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus
HUMPHRIES, PETER; PALFI, ARPAD; CHADDERTON, NAOMI SARAH; FARRAR, GWYNETH JANE; KENNA, PAUL (2012)Recombinant adeno-associated virus (AAV) represents an efficient system for neuronal transduction. However, a potential drawback of AAV is its restricted packaging capacity of approximately 5kb. To bypass this limita- tion, ... -
Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho?^'/?^' mouse
HUMPHRIES, PETER; FARRAR, JANE (Elsevier, 2015)As gene therapies for various forms of retinal degeneration progress toward human clinical trial, it will be essential to have a repertoire of safe and efficient vectors for gene delivery to the target cells. Recombinant ... -
Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice
HUMPHRIES, PETER (2015)Mouse full-field electroretinograms (ERGs) are dominated by responses of photoreceptors and depolarizing (ON-) bipolar cells, but not much of hyperpolarizing (OFF-) bipolar cells under conventional recording conditions. ... -
Enhancement of outflow facility in the murine eye by targeting selected tight-junctions of Schlemm's canal endothelia
HUMPHRIES, PETER; CAMPBELL, MATTHEW; HUMPHRIES, MARIAN (2017)The juxtacanalicular connective tissue of the trabecular meshwork together with inner wall endothelium of Schlemm’s canal (SC) provide the bulk of resistance to aqueous outflow from the anterior chamber. Endothelial cells ... -
Influence of a quantitative trait locus on mouse chromosome 19 to the light-adapted electroretinogram.
FARRAR, JANE; HUMPHRIES, PETER (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 ... -
Manipulating ocular endothelial tight junctions: Applications in treatment of retinal disease pathology and ocular hypertension
HUMPHRIES, PETER; CAMPBELL, MATTHEW (2018) -
Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods
HUMPHRIES, PETER (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 ... -
A novel retinal ganglion cell promoter for utility in AAV vectors
FARRAR, JANE; HUMPHRIES, PETER (2017) -
On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
FARRAR, JANE; HUMPHRIES, PETER (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 ... -
Panel-Based population next-generation sequencing for inherited retinal degenerations
HUMPHRIES, PETER; FARRAR, JANE (2016)Inherited retinopathies affect approximately two and a half million people globally, yet the majority of affected patients lack clear genetic diagnoses given the diverse range of genes and mutations implicated in these ... -
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90)
FARRAR, JANE; KENNA, PAUL; KIANG, ANNA-SOPHIA; HUMPHRIES, MARIAN; HUMPHRIES, PETER; TAM, LAWRENCE; CAMPBELL, MATTHEW (2010)Retinitis pigmentosa (RP) is the most prevalent cause of registered visual handicap among working aged populations of developed countries. Up to 40% of autosomal dominant cases of disease are caused by mutations within the ... -
RNA interference-mediated suppression and replacement of human rhodopsin in vivo.
HUMPHRIES, MARIAN; HUMPHRIES, PETER; FARRAR, GWYNETH JANE (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 ... -
RNAi of COL1A1 in mesenchymal progenitor cells
HUMPHRIES, PETER (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 ... -
Rod and cone contributions to horizontal cell light responses in the mouse retina.
HUMPHRIES, PETER (The Society for Neuroscience, 2008)Mammalian B-type horizontal cells make contact with both photoreceptor types: the dendrites contact cone photoreceptors, whereas the axon terminal processes contact rods. Despite their distinct synaptic contacts, horizontal ... -
RP1 Consortium. Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP
HUMPHRIES, PETER (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
FARRAR, JANE; HUMPHRIES, PETER; KENNA, PAUL (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 ... -
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
MILLINGTON-WARD, SOPHIA; O'REILLY, MARY; PALFI, ARPAD; KILTY, CLAIRE; HUMPHRIES, MARIAN; KENNA, PAUL; FARRAR, JANE; HUMPHRIES, PETER; CHADDERTON, NAOMI (2011)For dominantly inherited disorders development of gene therapies, targeting the primary genetic lesion has been impeded by mutational heterogeneity. An example is rhodopsin-linked autosomal dominant retinitis pigmentosa ...