About: Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

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About: Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration Goto Sponge NotDistinct Permalink

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scientific article published on 01 December 1998

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 1998 (uk) article scientifique publié en 1998 (fr) im Dezember 1998 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 1998 (ast) scientific article published on 01 December 1998 (en)
publication date	wds:Q57784990-576AA5CF-783E-4CD1-9CFB-0032BCFA1BE4
publication date	1998-12-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57784990-13BA91D5-89A5-4AC2-900E-52FA2666B3CD
language of work or name	English
exact match	wds:Q57784990-15AB9AA8-EB3F-478F-B538-E13A992036AA
exact match	https://scigraph.springernature.com/pub.10.1038/3798
cites work	wds:Q57784990-00C9875C-6BF8-4E1E-BB46-D8CB04DEB28A wds:Q57784990-1C323DAB-8833-4F95-9B31-6E28ED55A1C9 wds:Q57784990-57AB3EC0-199A-42C3-800D-6ED4C5EFEE0E wds:Q57784990-92BAC2AE-BC2F-4F79-BB43-A4A5F85962EE wds:Q57784990-AA6E0FC8-990A-4F43-8031-97471E1CC3AD wds:Q57784990-C716F20A-3D92-4854-90A3-926810C31987 wds:Q57784990-DCB90E24-2F92-4F96-A2F4-18F3AB38E4DD wds:Q57784990-FC158908-AD03-49B4-8E9F-51F7D005E409
cites work	Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration Prevalence of age-related maculopathy. The Beaver Dam Eye Study A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) Senile macular degeneration: a case-control study. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease
author name string	wds:Q57784990-34F6D634-D573-4F85-A6AF-7F318083666C wds:Q57784990-708AE61D-840B-49CC-9E9F-99A585270928 wds:Q57784990-90E10621-93D0-47DD-8984-0AB58ED23305 wds:Q57784990-A8E98C9C-4F45-48FC-8123-C0DB589DEB11
author name string	A R Webster R R Hockey K Vandenburgh L M Streb
rdfs:label	Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (en) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (nl)
skos:prefLabel	Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (en) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (nl)
name	Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (en) Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (nl)
author	wds:Q57784990-009343BD-A063-4BF0-946E-EC470E716CDF wds:Q57784990-32767A5C-A1AB-45B2-943A-0F0B01198DCC wds:Q57784990-3E78305B-20BC-461D-98AC-BFBC9CBDE559
author	Val C Sheffield Edwin M. Stone Andrew J Lotery
title	wds:Q57784990-9D67EB70-9292-4432-A1FA-BA0F44CF3CA4
title	Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (en)
page(s)	wds:Q57784990-96166263-AB85-413A-B3FA-54169B60BFF1
page(s)	328-329
instance of	wds:Q57784990-2DA37486-CC14-49B6-A5C2-33F7F1116AE9
instance of	scholarly article
main subject	wds:Q57784990-B773CAA5-6FB5-4977-B02E-4AC1C7107793 wds:Q57784990-BE25F2D3-0C7B-445F-83A3-B4E849682029
main subject	Stargardt disease macular degeneration
PubMed ID	wds:Q57784990-971E12B3-A28D-4807-A9CF-CEC2623DBD97
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9843201
PubMed ID	9843201
published in	wds:Q57784990-7A9384A7-4878-4ED0-973A-D930C4FAACAF
published in	Nature Genetics
issue	wds:Q57784990-0F582A47-4A72-454A-9BAE-002873AAEC19
volume	wds:Q57784990-30833CBF-6745-4152-830B-7F95F09A7960
issue	4
volume	20
DOI	wds:Q57784990-EAE7CBB0-CB30-46EA-AA46-F71262482CBE
DOI	http://dx.doi.org/10.1038/3798
DOI	10.1038/3798
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57784990
is cites work of	Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy Cone photopigment in older subjects: decreased optical density in early age-related macular degeneration Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice Age-related macular degeneration: epidemiology and optimal treatment Progressive age-related changes similar to age-related macular degeneration in a transgenic mouse model The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration Simple and complex ABCR: genetic predisposition to retinal disease Cloning and characterization of a human beta,beta-carotene-15,15'-dioxygenase that is highly expressed in the retinal pigment epithelium Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease Lipofuscin and N-retinylidene-N-retinylethanolamine (A2E) accumulate in retinal pigment epithelium in absence of light exposure: their origin is 11-cis-retinal ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans-retinal-mediated photooxidative damage in vitro. Implications for retinal disease Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases Molecular pathology of age-related macular degeneration Oxidative damage and protection of the RPE. Differential occurrence of mutations causative of eye diseases in the Chinese population Molecular genetics of macular degeneration The role of the carotenoids, lutein and zeaxanthin, in protecting against age-related macular degeneration: a review based on controversial evidence Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy Age-related macular degeneration: a perspective on genetic studies Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population High resolution MALDI imaging mass spectrometry of retinal tissue lipids Epidemiology of age-related maculopathy: a review Genetics of age-related macular degeneration: current concepts, future directions

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