Browsing Genetics by Author "FARRAR, JANE"
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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 ... -
CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression.
FARRAR, JANE (2013)The chromatin remodeler CHD5 is expressed in neural tissue and is frequently deleted in aggressive neuroblastoma. Very little is known about the function of CHD5 in the nervous system or its mechanism of action. Here we ... -
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 ... -
Gene expression changes during retinal development and rod specification
MANSERGH, FIONA; FARRAR, JANE (2015)Purpose: Retinitis pigmentosa (RP) typically results from individual mutations in any one of >70 genes that cause rod photoreceptor cells to degenerate prematurely, eventually resulting in blindness. Gene therapies ... -
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 ... -
Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy.
CAMPBELL, MATTHEW; FARRAR, JANE; KENNA, PAUL (2013)Leber hereditary optic neuropathy (LHON) is a mitochondrially inherited form of visual dysfunction caused by mutations in several genes encoding subunits of the mitochondrial respiratory NADH-ubiquinone oxidoreductase ... -
A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.
MILLINGTON-WARD, SOPHIA; FARRAR, JANE (2013) -
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 ... -
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 ... -
Target 5000: Target capture sequencing for inherited retinal degenerations
FARRAR, JANE; HUMPHRIES, PETER (2017) -
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
FARRAR, JANE; HUMPHRIES, MARIAN; HUMPHRIES, PETER; CAMPBELL, MATTHEW (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 ... -
Toward an elucidation of the molecular genetics of inherited retinal degenerations
FARRAR, JANE; HUMPHRIES, PETER; HUMPHRIES, MARIAN (2017) -
Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta
FARRAR, JANE; HUMPHRIES, PETER (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. ...