Browsing Genetics (Scholarly Publications) by Author "HUMPHRIES, MARIAN"
Now showing items 1-6 of 6
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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 ... -
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 ... -
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 ... -
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)