Abstract
Although age-related macular degeneration is the most prevalent macular disease in the world, numerous discoveries regarding the molecular bases of vision have been made through genetic association studies of rare inherited maculopathies. In this issue of the JCI, Yang et al. present a functional genetics study that identifies a role for prominin 1 (PROM1), best known as a stem cell and/or progenitor cell marker, in the biogenesis of retinal photoreceptor disk arrays (see the related article beginning on page 2908). This study supports an established model in which disk morphogenesis occurs through membrane evagination and extends other recent studies assigning PROM1 important functions outside of the stem cell niche.
Publication types
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Historical Article
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Comment
MeSH terms
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AC133 Antigen
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Animals
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Antigens, CD / genetics*
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Antigens, CD / history*
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Antigens, CD / immunology
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Antigens, CD / metabolism
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Biomarkers / metabolism
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Cadherin Related Proteins
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Cadherins / metabolism
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Glycoproteins / genetics*
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Glycoproteins / history*
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Glycoproteins / immunology
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Glycoproteins / metabolism
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History, 21st Century
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Humans
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Macular Degeneration / genetics
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Mice
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Mice, Transgenic
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Models, Biological
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Morphogenesis
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Nerve Tissue Proteins / metabolism
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Optic Disk / growth & development*
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Optic Disk / immunology
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Peptides / genetics*
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Peptides / history*
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Peptides / immunology
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Peptides / metabolism
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Photoreceptor Cells / immunology
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Stem Cells / immunology
Substances
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AC133 Antigen
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Antigens, CD
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Biomarkers
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CDHR1 protein, human
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Cadherin Related Proteins
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Cadherins
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Glycoproteins
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Nerve Tissue Proteins
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PROM1 protein, human
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Peptides
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Prom1 protein, mouse