JAMES LUPSKI to ATP-Binding Cassette Transporters
This is a "connection" page, showing publications JAMES LUPSKI has written about ATP-Binding Cassette Transporters.
Connection Strength
2.411
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ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 01; 14(19):2769-78.
Score: 0.231
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Evolution of ABCA4 proteins in vertebrates. J Mol Evol. 2005 Jan; 60(1):72-80.
Score: 0.222
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An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44.
Score: 0.198
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Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001 Nov; 42(12):2757-61.
Score: 0.178
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Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001 Nov 01; 10(23):2671-8.
Score: 0.178
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Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001 Jun; 131(6):761-6.
Score: 0.173
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Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001 Apr; 108(4):346-55.
Score: 0.171
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Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum Genet. 2000 Feb; 106(2):244-8.
Score: 0.158
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The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999 Jul; 39(15):2537-44.
Score: 0.151
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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar; 15(3):236-46.
Score: 0.129
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Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 Jan; 135(1):9-19.
Score: 0.117
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Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 Oct; 35(10):1187-94.
Score: 0.109
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Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806.
Score: 0.108
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456.
Score: 0.053
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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov; 22(5):395-403.
Score: 0.051
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Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002 Feb; 43(2):466-73.
Score: 0.045
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Macular degeneration: the emerging genetics. Hosp Pract (1995). 2000 Jun 15; 35(6):41-50, 56-8.
Score: 0.040
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Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999 Feb; 64(2):422-34.
Score: 0.037
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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19; 277(5333):1805-7.
Score: 0.033
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713.
Score: 0.030