Search Results - "Humphries, Pete"

Next-Generation Sequencing Applications for Inherited Retinal Diseases by Dockery, Adrian, Whelan, Laura, Humphries, Pete, Farrar, G. Jane

“…Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically diverse conditions. IRDs phenotype(s) can be isolated to the eye or…”
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Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice by Palfi, Arpad, Yesmambetov, Adlet, Humphries, Pete, Hokamp, Karsten, Farrar, G. Jane

“…Mutations in tubby like protein 1 gene (TULP1) are causative of early-onset recessive inherited retinal degenerations (IRDs); similarly, the Tulp1-/- mouse is…”
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RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models by Millington-Ward, Sophia, Chadderton, Naomi, Finnegan, Laura K, Post, Iris J M, Carrigan, Matthew, Nixon, Rachel, Humphries, Marian M, Humphries, Pete, Kenna, Paul F, Palfi, Arpad, Farrar, G Jane

“…Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the…”
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Fibrotic Changes to Schlemm's Canal Endothelial Cells in Glaucoma by Kelly, Ruth A, Perkumas, Kristin M, Campbell, Matthew, Farrar, G Jane, Stamer, W Daniel, Humphries, Pete, O'Callaghan, Jeffrey, O'Brien, Colm J

“…Previous studies have shown that glaucomatous Schlemm's canal endothelial cells (gSCECs) are stiffer and associated with reduced porosity and increased…”
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AAV-PHP.eB transduces both the inner and outer retina with high efficacy in mice by Palfi, Arpad, Chadderton, Naomi, Millington-Ward, Sophia, Post, Iris, Humphries, Pete, Kenna, Paul F., Farrar, G. Jane

“…Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy approaches; however, there is a need…”
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SARM1 deficiency promotes rod and cone photoreceptor cell survival in a model of retinal degeneration by Ozaki, Ema, Gibbons, Luke, Neto, Nuno Gb, Kenna, Paul, Carty, Michael, Humphries, Marian, Humphries, Pete, Campbell, Matthew, Monaghan, Michael, Bowie, Andrew, Doyle, Sarah L

“…Retinal degeneration is the leading cause of incurable blindness worldwide and is characterised by progressive loss of light-sensing photoreceptors in the…”
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AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas by Palfi, Arpad, Yesmambetov, Adlet, Millington-Ward, Sophia, Shortall, Ciara, Humphries, Pete, Kenna, Paul F., Chadderton, Naomi, Farrar, G. Jane

“…With marketing approval of the first ocular gene therapy and other gene-therapies in clinical trial, treatments for inherited retinal degenerations (IRDs) have…”
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Enhancement of Outflow Facility in the Murine Eye by Targeting Selected Tight-Junctions of Schlemm’s Canal Endothelia by Tam, Lawrence C. S., Reina-Torres, Ester, Sherwood, Joseph M., Cassidy, Paul S., Crosbie, Darragh E., Lütjen-Drecoll, Elke, Flügel-Koch, Cassandra, Perkumas, Kristin, Humphries, Marian M., Kiang, Anna-Sophia, O’Callaghan, Jeffrey, Callanan, John J., Read, A. Thomas, Ethier, C. Ross, O’Brien, Colm, Lawrence, Matthew, Campbell, Matthew, Stamer, W. Daniel, Overby, Darryl R., Humphries, Pete

“…The juxtacanalicular connective tissue of the trabecular meshwork together with inner wall endothelium of Schlemm’s canal (SC) provide the bulk of resistance…”
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Retinopathy Is Reduced during Experimental Diabetes in a Mouse Model of Outer Retinal Degeneration by de Gooyer, Tanyth E, Stevenson, Kathryn A, Humphries, Pete, Simpson, David A. C, Gardiner, Tom A, Stitt, Alan W

“…Diabetic patients who also have retinitis pigmentosa (RP) appear to have fewer and less severe retinal microvascular lesions. Diabetic retinopathy may be…”
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siRNA targeting Schlemm’s canal endothelial tight junctions enhances outflow facility and reduces IOP in a steroid-induced OHT rodent model by Cassidy, Paul S., Kelly, Ruth A., Reina-Torres, Ester, Sherwood, Joseph M., Humphries, Marian M., Kiang, Anna-Sophia, Farrar, G. Jane, O’Brien, Colm, Campbell, Matthew, Stamer, W. Daniel, Overby, Darryl R., Humphries, Pete, O’Callaghan, Jeffrey

“…Systemic or localized application of glucocorticoids (GCs) can lead to iatrogenic ocular hypertension, which is a leading cause of secondary open-angle…”
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AAV‐mediated gene therapy improving mitochondrial function provides benefit in age‐related macular degeneration models by Millington‐Ward, Sophia, Chadderton, Naomi, Finnegan, Laura K., Post, Iris J.M., Carrigan, Matthew, Gardiner, Tom, Peixoto, Elisa, Maloney, Daniel, Humphries, Marian M., Stitt, Alan, Léveillard, Thierry, Humphries, Pete, Kenna, Paul F., Palfi, Arpad, Farrar, G. Jane

“…AMD is multifactorial with genetic and environmental factors known to contribute to the disease.2 Although underlying mechanisms involved in AMD are not fully…”
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Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy by Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete

“…ObjectivesNo therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates…”
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Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90) by Tam, Lawrence C.S., Kiang, Anna-Sophia, Campbell, Matthew, Keaney, James, Jane Farrar, G., Humphries, Marian M., Kenna, Paul F., Humphries, Pete

“…Retinitis pigmentosa (RP) is the most prevalent cause of registered visual handicap among working aged populations of developed countries. Up to 40% of…”
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Grating Acuity at Different Luminances in Wild-Type Mice and in Mice Lacking Rod or Cone Function by Schmucker, Christine, Seeliger, Mathias, Humphries, Pete, Biel, Martin, Schaeffel, Frank

“…The mouse eye has become an important model in vision research. However, it is not known how visual acuity changes with luminance. Therefore, grating acuity of…”
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Reference gene selection for real-time rtPCR in human epidermal keratinocytes by Allen, Danny, Winters, Eleanor, Kenna, Paul F, Humphries, Pete, Jane Farrar, G

“…Summary Background RNA interference represents a powerful tool with which to achieve suppression of specific target mRNA. Real-time rtPCR is a useful technique…”
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Toward a Gene Therapy for Dominant Disease: Validation of an RNA Interference-Based Mutation-Independent Approach by Kiang, Anna-Sophia, Palfi, Arpad, Ader, Marius, Kenna, Paul F, Millington-Ward, Sophia, Clark, Gerry, Kennan, Avril, O'reilly, Mary, Tam, Lawrence C T, Aherne, Aileen, McNally, Niamh, Humphries, Pete, Farrar, G Jane

“…The intragenic heterogeneity encountered in many dominant disease-causing genes represents a significant challenge with respect to development of economically…”
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Development of strategies for conditional RNA interference by Allen, Danny, Kenna, Paul F., Palfi, Arpad, McMahon, Helena P., Millington-Ward, Sophia, O'Reilly, Mary, Humphries, Pete, Farrar, G. Jane

“…Background RNA interference (RNAi) represents a powerful tool with which to undertake sequence‐dependent suppression of gene expression. Synthesized…”
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Open-angle glaucoma: therapeutically targeting the extracellular matrix of the conventional outflow pathway by O'Callaghan, Jeffrey, Cassidy, Paul S, Humphries, Pete

“…Ocular hypertension in open-angle glaucoma is caused by a reduced rate of removal of aqueous humour (AH) from the eye, with the majority of AH draining from…”
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Toward an elucidation of the molecular genetics of inherited retinal degenerations by Farrar, G Jane, Carrigan, Matthew, Dockery, Adrian, Millington-Ward, Sophia, Palfi, Arpad, Chadderton, Naomi, Humphries, Marian, Kiang, Anna Sophia, Kenna, Paul F, Humphries, Pete

“…While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world…”
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A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration by Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Palfi, Arpad, Kenna, Paul F, Farrar, G Jane

“…The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated…”
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