Search Results - "Budd, A"
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Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration
Published in Proceedings of the National Academy of Sciences - PNAS (26-11-2019)“…The human retinal pigment epithelium (RPE) and choroid are complex tissues that provide crucial support to the retina. Disease affecting either of these…”
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2
Molecular evidence for horizontal transmission of chelonid alphaherpesvirus 5 at green turtle (Chelonia mydas) foraging grounds in Queensland, Australia
Published in PloS one (01-01-2020)“…Fibropapillomatosis (FP) is a marine turtle disease recognised by benign tumours on the skin, eyes, shell, oral cavity and/or viscera. Despite being a globally…”
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Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Published in Ophthalmology (Rochester, Minn.) (01-09-2017)“…Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive…”
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Transplantation of adult mouse iPS cell-derived photoreceptor precursors restores retinal structure and function in degenerative mice
Published in PloS one (29-04-2011)“…This study was designed to determine whether adult mouse induced pluripotent stem cells (iPSCs), could be used to produce retinal precursors and subsequently…”
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5
Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy
Published in Progress in retinal and eye research (01-03-2015)“…Age-related macular degeneration (AMD) is a common and devastating disease that can result in severe visual dysfunction. Over the last decade, great progress…”
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Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo
Published in Proceedings of the National Academy of Sciences - PNAS (21-06-2016)“…Glaucoma is a common cause of vision loss or blindness and reduction of intraocular pressure (IOP) has been proven beneficial in a large fraction of glaucoma…”
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Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma
Published in Investigative ophthalmology & visual science (01-04-2017)“…Primary open-angle glaucoma (POAG) is particularly common in older individuals and associated with pathologic degeneration of the trabecular meshwork (TM). We…”
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Two-photon polymerization for production of human iPSC-derived retinal cell grafts
Published in Acta biomaterialia (01-06-2017)“…[Display omitted] Recent advances in induced pluripotent stem cell (iPSC) technology have paved the way for the production of patient-specific neurons that are…”
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Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration
Published in Molecular therapy (06-09-2017)“…Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous cell replacement. However, for many inherited diseases, treatment will…”
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10
Choriocapillaris Degeneration in Geographic Atrophy
Published in The American journal of pathology (01-07-2019)“…Early age-related macular degeneration (AMD) is characterized by degeneration of the choriocapillaris, the vascular supply of retinal photoreceptor cells. We…”
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Endogenous VEGF is required for visual function: evidence for a survival role on müller cells and photoreceptors
Published in PloS one (03-11-2008)“…Vascular endothelial growth factor (VEGF) is well known for its role in normal and pathologic neovascularization. However, a growing body of evidence indicates…”
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Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases
Published in Progress in retinal and eye research (01-01-2015)“…Vision is the sense that we use to navigate the world around us. Thus it is not surprising that blindness is one of people's most feared maladies. Heritable…”
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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
Published in Proceedings of the National Academy of Sciences - PNAS (23-08-2011)“…Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to…”
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The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning
Published in The American journal of pathology (01-11-2014)“…Age-related macular degeneration (AMD) is a common disease that can result in severe visual impairment. Abnormal regulation of the complement system has been…”
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Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
Published in Proceedings of the National Academy of Sciences - PNAS (22-01-2019)“…Retinitis pigmentosa (RP) is an inherited retinal degenerative disease with severe vision impairment leading to blindness. About 10–15% of RP cases are caused…”
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Peri‐operative neurological complications
Published in Anaesthesia (01-01-2018)“…Summary Brain injury from cardiac surgery is an important source of patient morbidity and mortality. The relationship between risk of brain injury and advanced…”
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Transcriptomic and Chromatin Accessibility Analysis of the Human Macular and Peripheral Retinal Pigment Epithelium at the Single-Cell Level
Published in The American journal of pathology (01-11-2023)“…Some human retinal diseases are characterized by pathology that is restricted to specific cell types and to specific regions of the eye. Several disease…”
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Using Stem Cells to Rebuild the Outer Neural Retina
Published in Investigative ophthalmology & visual science (01-06-2016)Get full text
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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Published in Human molecular genetics (20-12-2013)“…Mutations in ABCA4 cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in…”
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Single-cell RNA sequencing in vision research: Insights into human retinal health and disease
Published in Progress in retinal and eye research (01-07-2021)“…Gene expression provides valuable insight into cell function. As such, vision researchers have frequently employed gene expression studies to better understand…”
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