Simple and complex ABCR: Genetic predisposition to retinal disease

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 793-799

  Allikmets, R ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER;

CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; EDITORIAL; GENE FUNCTION; GENETIC PREDISPOSITION; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; RETINA MACULA AGE RELATED DEGENERATION;

EID: 0033794871     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303100     Document Type: Editorial

References (44)

1. Molecular genetics of age-related macular degeneration: Current status
2. Further evidence for an association of ABCR alleles with age-related macular degeneration
3. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
4. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
5. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p
6. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
7. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
8. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration
9. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
10. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
11. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
12. Prevalence of age-related maculopathy: The Beaver Dam eye study
13. ATP binding cassette transporter retina genotypes and age related macular degeneration: An analysis on exudative non-familial Japanese patients
14. Genotype/ phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
15. The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits
16. Stargardt disease in patients of Somalian ancestry [ARVO Abstract]
17. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
18. Biogenesis of lipofuscin in retina and RPE of ABCR knockout mice and humans with ABCR-mediated macular degenerations
19. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
20. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR mutations in patients with Stargardt disease
21. Is there a role for the ABCR Stargardt's gene in AMD?
22. Tests and estimates of allelic association in complex inheritance
23. Candidate-gene association studies of schizophrenia
24. Biosynthetic and immunochemical characterization of large protein in frog and cattle rod outer segment membranes
25. Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks
26. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
27. Searching for genetic determinants in the new millennium
28. The future of genetic studies of complex human diseases
29. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
30. 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
31. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
32. Use of parents, sibs, and unrelated controls for detection of associations between genetic markers and disease
33. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
34. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
35. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
36. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
37. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
38. Biochemical defects in ABCR protein variants associated with human retinopathies
39. ABCR unites what ophthalmologists divide(s)
40. The prevalence of age-related maculopathy in the Rotterdam Study
41. A full genome scan for age-related maculopathy
42. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
43. Cystic fibrosis: Genotypic and phenotypic variations