Search Results - "Munro, Peter M."
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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
Published in Cell stem cell (02-06-2016)“…Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic…”
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Published in American journal of human genetics (01-12-2016)“…Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode…”
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Correction: The Tight Junction Associated Signalling Proteins ZO-1 and ZONAB Regulate Retinal Pigment Epithelium Homeostasis in Mice
Published in PloS one (07-12-2023)“…[This corrects the article DOI: 10.1371/journal.pone.0015730.]…”
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Regulation of cell protrusions by small GTPases during fusion of the neural folds
Published in eLife (26-04-2016)“…Epithelial fusion is a crucial process in embryonic development, and its failure underlies several clinically important birth defects. For example, failure of…”
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The Drusenlike Phenotype in Aging Ccl2-Knockout Mice Is Caused by an Accelerated Accumulation of Swollen Autofluorescent Subretinal Macrophages
Published in Investigative ophthalmology & visual science (01-12-2009)“…Drusen, which are defined clinically as yellowish white spots in the outer retina, are cardinal features of age-related macular degeneration (AMD)…”
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Characterization of the Limbal Epithelial Stem Cell Niche: Novel Imaging Techniques Permit In Vivo Observation and Targeted Biopsy of Limbal Epithelial Stem Cells
Published in Stem cells (Dayton, Ohio) (01-06-2007)“…It is anticipated that stem cell (SC) therapy will enable the regeneration of diseased tissues and organs. Understanding SC niches is an essential step toward…”
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The tight junction associated signalling proteins ZO-1 and ZONAB regulate retinal pigment epithelium homeostasis in mice
Published in PloS one (30-12-2010)“…Cell-cell adhesion regulates the development and function of epithelia by providing mechanical support and by guiding cell proliferation and differentiation…”
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8
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration
Published in Human molecular genetics (15-01-2017)“…Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H…”
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Dbl3 drives Cdc42 signaling at the apical margin to regulate junction position and apical differentiation
Published in The Journal of cell biology (06-01-2014)“…Epithelial cells develop morphologically characteristic apical domains that are bordered by tight junctions, the apical-lateral border. Cdc42 and its effector…”
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10
The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
Published in Journal of cell science (15-07-2002)“…Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to…”
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Differential modulation of retinal degeneration by Ccl2 and Cx3cr1 chemokine signalling
Published in PloS one (24-04-2012)“…Microglia and macrophages are recruited to sites of retinal degeneration where local cytokines and chemokines determine protective or neurotoxic microglia…”
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Autologous Transplantation of the Retinal Pigment Epithelium and Choroid in the Treatment of Neovascular Age-Related Macular Degeneration
Published in Ophthalmology (Rochester, Minn.) (01-03-2007)“…Purpose To assess excision of choroidal new vessels (CNV) combined with autologous transplantation of the equatorial retinal pigment epithelium (RPE) as a…”
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13
Real-Time In Vivo Imaging of Retinal Cell Apoptosis after Laser Exposure
Published in Investigative ophthalmology & visual science (01-06-2008)“…To investigate whether the detection of apoptosing retinal cells (DARC) could detect cells undergoing apoptosis in a laser model of retinal damage. Laser…”
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14
Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
Published in American journal of human genetics (01-11-2007)“…We report mutations in the gene for topoisomerase I–binding RS protein ( TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to…”
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Basement membrane changes in capillaries of the ageing human retina
Published in British journal of ophthalmology (01-09-2011)“…The ultrastructural appearance of retinal capillaries can yield important information about disease mechanisms, but is not well characterised in human post…”
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Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
Published in Nature genetics (01-07-2000)“…The gene Prph2 encodes a photoreceptor-specific membrane glycoprotein, peripherin-2 (also known as peripherin/rds), which is inserted into the rims of…”
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WASp‐dependent actin cytoskeleton stability at the dendritic cell immunological synapse is required for extensive, functional T cell contacts
Published in Journal of leukocyte biology (01-05-2016)“…Novel DC podosomes surround the central MHCII cluster to stabilize the IS; a driver role for the DC actin cytoskeleton. The immunological synapse is a highly…”
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REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
Published in Human molecular genetics (15-07-2017)“…Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor…”
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19
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
Published in Nature genetics (01-10-2005)“…The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial…”
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Ccl2, Cx3cr1 and Ccl2/Cx3cr1 chemokine deficiencies are not sufficient to cause age-related retinal degeneration
Published in Experimental eye research (01-02-2013)“…Monocytes, macrophages, dendritic cells and microglia play critical roles in the local immune response to acute and chronic tissue injury and have been…”
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