Literature DB >> 10970771

Simple and complex ABCR: genetic predisposition to retinal disease.

R Allikmets1.   

Abstract

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Year:  2000        PMID： 10970771      PMCID： PMC1287884          DOI： 10.1086/303100

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  40 in total

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3.  A full genome scan for age-related maculopathy.

Authors:  D E Weeks; Y P Conley; T S Mah; T O Paul; L Morse; J Ngo-Chang; J P Dailey; R E Ferrell; M B Gorin
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4.  Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Authors:  J M Rozet; S Gerber; I Ghazi; I Perrault; D Ducroq; E Souied; A Cabot; J L Dufier; A Munnich; J Kaplan
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 5.  The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial.

Authors:  N F Shroyer; R A Lewis; R Allikmets; N Singh; M Dean; M Leppert; J R Lupski
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6.  ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients.

Authors:  S Kuroiwa; H Kojima; T Kikuchi; N Yoshimura
Journal:  Br J Ophthalmol       Date:  1999-05       Impact factor: 4.638

7.  Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration.

Authors:  M A De La Paz; V K Guy; S Abou-Donia; R Heinis; B Bracken; J M Vance; J R Gilbert; J D Gass; J L Haines; M A Pericak-Vance
Journal:  Ophthalmology       Date:  1999-08       Impact factor: 12.079

8.  New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.

Authors:  F Simonelli; F Testa; G de Crecchio; E Rinaldi; A Hutchinson; A Atkinson; M Dean; M D'Urso; R Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-03       Impact factor: 4.799

9.  Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.

Authors:  J Weng; N L Mata; S M Azarian; R T Tzekov; D G Birch; G H Travis
Journal:  Cell       Date:  1999-07-09       Impact factor: 41.582

Review 10.  Searching for genetic determinants in the new millennium.

Authors:  N J Risch
Journal:  Nature       Date:  2000-06-15       Impact factor: 49.962
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  34 in total

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Journal:  CMAJ       Date:  2004-05-11       Impact factor: 8.262

Review 3.  The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.

Authors:  Yaroslav Tsybovsky; Robert S Molday; Krzysztof Palczewski
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Review 4.  Retinal remodeling.

Authors:  B W Jones; M Kondo; H Terasaki; Y Lin; M McCall; R E Marc
Journal:  Jpn J Ophthalmol       Date:  2012-05-30       Impact factor: 2.447

5.  The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.

Authors:  B Jeroen Klevering; August F Deutman; Alessandra Maugeri; Frans P M Cremers; Carel B Hoyng
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-12-22       Impact factor: 3.117

6.  Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases.

Authors:  Ming Zhong; Laurie L Molday; Robert S Molday
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Review 7.  Chemistry of the retinoid (visual) cycle.

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8.  Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism.

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Journal:  Biochem J       Date:  2005-07-15       Impact factor: 3.857

9.  ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration.

Authors:  Robert S Molday
Journal:  J Bioenerg Biomembr       Date:  2007-12       Impact factor: 2.945

Review 10.  The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Authors:  Robert S Molday; Ming Zhong; Faraz Quazi
Journal:  Biochim Biophys Acta       Date:  2009-02-20
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