Search Results - "Carr, Amanda Jayne"
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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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Phase 1 clinical study of an embryonic stem cell–derived retinal pigment epithelium patch in age-related macular degeneration
Published in Nature biotechnology (01-04-2018)“…An engineered patch of retinal pigment epithelium generated from human embryonic stem cells is transplanted into the eyes of two patients. Age-related macular…”
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Stem cells in retinal regeneration: past, present and future
Published in Development (Cambridge) (15-06-2013)“…Stem cell therapy for retinal disease is under way, and several clinical trials are currently recruiting. These trials use human embryonic, foetal and…”
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Development of human embryonic stem cell therapies for age-related macular degeneration
Published in Trends in neurosciences (Regular ed.) (01-07-2013)“…Highlights • Age-related macular degeneration (AMD) is the leading cause of vision loss in older adults. Recent research for treating AMD has focused on…”
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Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
Published in Stem cell reports (11-10-2022)“…Leber congenital amaurosis type 4 (LCA4), caused by AIPL1 mutations, is characterized by severe sight impairment in infancy and rapidly progressing…”
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Annexin A8 regulates Wnt signaling to maintain the phenotypic plasticity of retinal pigment epithelial cells
Published in Scientific reports (27-01-2020)“…Wnt signalling mediates complex cell-cellinteractions during development and proliferation. Annexin A8 (AnxA8), a calcium-dependent phospholipid-binding…”
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Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat
Published in PloS one (03-12-2009)“…Transformation of somatic cells with a set of embryonic transcription factors produces cells with the pluripotent properties of embryonic stem cells (ESCs)…”
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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
Published in Human molecular genetics (15-02-2015)“…Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are…”
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Bestrophin1: A Gene that Causes Many Diseases
Published in Advances in experimental medicine and biology (2019)“…Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that lead to the gradual loss of vision in and around the macular area…”
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Elucidating the phenomenon of HESC-derived RPE: Anatomy of cell genesis, expansion and retinal transplantation
Published in Experimental neurology (01-12-2008)“…Healthy Retinal Pigment Epithelium (RPE) cells are required for proper visual function and the phenomenon of RPE derivation from Human Embryonic Stem Cells…”
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Regulation of retinal pigment epithelial cell phenotype by Annexin A8
Published in Scientific reports (05-07-2017)“…The retinoic acid derivative fenretinide (FR) is capable of transdifferentiating cultured retinal pigment epithelial (RPE) cells towards a neuronal-like…”
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Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies
Published in Therapeutic Advances in Ophthalmology (01-01-2021)“…Bestrophinopathies are a group of clinically distinct inherited retinal dystrophies that typically affect the macular region, an area synonymous with central…”
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Induction of differentiation by pyruvate and DMEM in the human retinal pigment epithelium cell line ARPE-19
Published in Investigative ophthalmology & visual science (09-09-2011)“…Cultured retinal pigment epithelium (RPE) may become a therapeutic option for transplantation in retinal disease. However maintaining a native RPE phenotype in…”
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Imaging of single light-responsive clock cells reveals fluctuating free-running periods
Published in Nature cell biology (01-03-2005)“…Zebrafish tissues and cell lines contain circadian clocks that respond directly to light. Using fluorescence-activated cell sorting, we have isolated clonal…”
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Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5
Published in Stem cell research (01-06-2023)“…Late-Onset Retinal Degeneration (L-ORD) is a rare autosomal dominant macular disease, with most cases being caused by a founder mutation in C1QTNF5. Initial…”
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Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)
Published in Scientific reports (22-09-2016)“…Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary…”
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Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs
Published in Scientific reports (03-03-2017)“…Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous…”
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Degeneration of cortical function in the Royal College of Surgeons rat
Published in Vision research (Oxford) (15-10-2011)“…► Royal College of Surgeons rat brain electrophysiology. ► Early degeneration in the cortical processing to gratings stimulation. ► Cortical processing to…”
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Using Stem Cells to Model Diseases of the Outer Retina
Published in Computational and structural biotechnology journal (01-01-2015)“…Retinal degeneration arises from the loss of photoreceptors or retinal pigment epithelium (RPE). It is one of the leading causes of irreversible blindness…”
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Novel therapies for Bestrophinopathies
Published in Acta ophthalmologica (Oxford, England) (01-12-2019)“…Bestrophinopathies are a group of clinically distinct diseases caused by mutations in Bestrophin1 (BEST1). BEST1 is expressed exclusively in the retinal…”
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