ABCR

Summary

Gene Symbol: ABCR
Description: ATP binding cassette subfamily A member 4
Alias: ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, retinal-specific ATP-binding cassette transporter, ATP binding cassette transporter, ATP-binding cassette sub-family A member 4, ATP-binding cassette transporter, retinal-specific, ATP-binding cassette, sub-family A (ABC1), member 4, ATP-binding transporter, retina-specific, RIM ABC transporter, RIM protein, photoreceptor rim protein, retina-specific ABC transporter, stargardt disease protein
Species: human
Products:     ABCR

Top Publications

  1. Lennon C, Birkeland A, Nuñez J, Su G, Lanzano P, Guzman E, et al. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope. 2012;122:2082-7 pubmed publisher
    ..Here we investigated other candidate genes and chromosomal regions associated with NSCLP identified from genome-wide association studies (GWAS), including MAFB, ABCA4, 8q24, 9q22, 10q25, and 17q22 in two independent Hispanic populations...
  2. Burke T, Fishman G, Zernant J, Schubert C, Tsang S, Smith R, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:4458-67 pubmed publisher
    ..We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes...
  3. Aguirre Lamban J, Riveiro Alvarez R, Maia Lopes S, Cantalapiedra D, Vallespin E, Avila Fernandez A, et al. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. Br J Ophthalmol. 2009;93:614-21 pubmed publisher
    Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone-rod dystrophy (arCRD) and autosomal recessive retinitis pigmentosa (arRP)...
  4. Shroyer N, Lewis R, Yatsenko A, Wensel T, Lupski J. 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;10:2671-8 pubmed
    ..been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt disease (STGD), cone-rod dystrophy and retinitis pigmentosa...
  5. Maugeri A, Klevering B, Rohrschneider K, Blankenagel A, Brunner H, Deutman A, et al. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000;67:960-6 pubmed
    ..ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM)...
  6. Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet. 1997;17:15-6 pubmed
  7. Fontoura C, Silva R, Granjeiro J, Letra A. Further evidence of association of the ABCA4 gene with cleft lip/palate. Eur J Oral Sci. 2012;120:553-7 pubmed publisher
    ..No association was found for MAFB. Our results support a potential role for ABCA4 in the etiology of CL/P in individuals from Brazil...
  8. Fritsche L, Fleckenstein M, Fiebig B, Schmitz Valckenberg S, Bindewald Wittich A, Keilhauer C, et al. A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:2112-8 pubmed publisher
    ..Some features of GPS[+] overlap with Stargardt disease (STGD1), a recessive macular dystrophy caused by biallelic sequence variants in the ATP-binding cassette transporter 4 (..
  9. Mullins R, Kuehn M, Radu R, Enriquez G, East J, Schindler E, et al. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Invest Ophthalmol Vis Sci. 2012;53:1883-94 pubmed publisher
    ..In order to gain new insights into the pathogenesis of ARRP, we evaluated the morphological, biochemical, and gene expression changes in eyes from a human donor with ARRP due to mutations in the ABCA4 gene...
  10. Duno M, Schwartz M, Larsen P, Rosenberg T. Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. Ophthalmic Genet. 2012;33:225-31 pubmed publisher
    ....

Detail Information

Publications62

  1. Lennon C, Birkeland A, Nuñez J, Su G, Lanzano P, Guzman E, et al. Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations. Laryngoscope. 2012;122:2082-7 pubmed publisher
    ..Here we investigated other candidate genes and chromosomal regions associated with NSCLP identified from genome-wide association studies (GWAS), including MAFB, ABCA4, 8q24, 9q22, 10q25, and 17q22 in two independent Hispanic populations...
  2. Burke T, Fishman G, Zernant J, Schubert C, Tsang S, Smith R, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:4458-67 pubmed publisher
    ..We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes...
  3. Aguirre Lamban J, Riveiro Alvarez R, Maia Lopes S, Cantalapiedra D, Vallespin E, Avila Fernandez A, et al. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. Br J Ophthalmol. 2009;93:614-21 pubmed publisher
    Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease (STGD), a few cases with autosomal recessive cone-rod dystrophy (arCRD) and autosomal recessive retinitis pigmentosa (arRP)...
  4. Shroyer N, Lewis R, Yatsenko A, Wensel T, Lupski J. 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;10:2671-8 pubmed
    ..been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt disease (STGD), cone-rod dystrophy and retinitis pigmentosa...
  5. Maugeri A, Klevering B, Rohrschneider K, Blankenagel A, Brunner H, Deutman A, et al. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet. 2000;67:960-6 pubmed
    ..ABCA4; previously denoted "ABCR") is mutated, in most patients, with autosomal recessive (AR) Stargardt disease (STGD1) or fundus flavimaculatus (FFM)...
  6. Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet. 1997;17:15-6 pubmed
  7. Fontoura C, Silva R, Granjeiro J, Letra A. Further evidence of association of the ABCA4 gene with cleft lip/palate. Eur J Oral Sci. 2012;120:553-7 pubmed publisher
    ..No association was found for MAFB. Our results support a potential role for ABCA4 in the etiology of CL/P in individuals from Brazil...
  8. Fritsche L, Fleckenstein M, Fiebig B, Schmitz Valckenberg S, Bindewald Wittich A, Keilhauer C, et al. A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:2112-8 pubmed publisher
    ..Some features of GPS[+] overlap with Stargardt disease (STGD1), a recessive macular dystrophy caused by biallelic sequence variants in the ATP-binding cassette transporter 4 (..
  9. Mullins R, Kuehn M, Radu R, Enriquez G, East J, Schindler E, et al. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization. Invest Ophthalmol Vis Sci. 2012;53:1883-94 pubmed publisher
    ..In order to gain new insights into the pathogenesis of ARRP, we evaluated the morphological, biochemical, and gene expression changes in eyes from a human donor with ARRP due to mutations in the ABCA4 gene...
  10. Duno M, Schwartz M, Larsen P, Rosenberg T. Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. Ophthalmic Genet. 2012;33:225-31 pubmed publisher
    ....
  11. Riveiro Alvarez R, Vallespin E, Wilke R, Garcia Sandoval B, Cantalapiedra D, Aguirre Lamban J, et al. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. Mol Vis. 2008;14:262-7 pubmed
    Stargardt disease (STGD), characterized by central visual impairment, is the most common juvenile macular dystrophy. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene...
  12. Valverde D, Riveiro Alvarez R, Bernal S, Jaakson K, Baiget M, Navarro R, et al. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele. Mol Vis. 2006;12:902-8 pubmed
    ....
  13. Eksandh L, Ekstrom U, Abrahamson M, Bauer B, Andreasson S. Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). Acta Ophthalmol Scand. 2001;79:524-30 pubmed
    To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1).
  14. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. Am J Hum Genet. 2000;67:487-91 pubmed
    ..Previously we have reported disease-associated variants in the ABCR (also called ABCA4) gene in a subset of patients affected with this complex disorder...
  15. Cremers F, van de Pol D, van Driel M, den Hollander A, van Haren F, Knoers N, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-62 pubmed
    ..22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age-related macular degeneration (AMD)...
  16. Shroyer N, Lewis R, Lupski J. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum Genet. 2000;106:244-8 pubmed
    Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. Linkage disequilibrium has recently been reported between a polymorphism, 2828 A, and a common Western European founder mutation, 2588 C...
  17. Rosenberg T, Klie F, Garred P, Schwartz M. N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. Mol Vis. 2007;13:1962-9 pubmed
    ..The study was conducted to resolve the spectrum of ABCA4 mutations in a cohort of unrelated Danish residents with early-onset macular dystrophy...
  18. Michaelides M, Chen L, Brantley M, Andorf J, Isaak E, Jenkins S, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol. 2007;91:1650-5 pubmed
    ..To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's-eye maculopathy (BEM)...
  19. Cideciyan A, Swider M, Aleman T, Tsybovsky Y, Schwartz S, Windsor E, et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009;18:931-41 pubmed publisher
    ..Genotype-based inclusion/exclusion criteria and prediction of the age of retina-wide disease initiation will be invaluable for selecting appropriate candidates for clinical trials in ABCA4 disease...
  20. Cella W, Greenstein V, Zernant Rajang J, Smith T, Barile G, Allikmets R, et al. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. Exp Eye Res. 2009;89:16-24 pubmed publisher
    ..In addition, genetic testing provides precise diagnosis of the underlying maculopathy, and current non-invasive imaging techniques could be used to detect photoreceptor damage at the earliest clinical onset of the disease...
  21. Passerini I, Sodi A, Giambene B, Mariottini A, Menchini U, Torricelli F. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond). 2010;24:158-64 pubmed publisher
    ..disease (STGD) is the most prevalent juvenile macular dystrophy, and it has been associated with mutations in the ABCR gene, encoding a photoreceptor-specific transport protein...
  22. Poloschek C, Bach M, Lagrèze W, Glaus E, Lemke J, Berger W, et al. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci. 2010;51:4253-65 pubmed publisher
    ....
  23. Schindler E, Nylen E, Ko A, Affatigato L, Heggen A, Wang K, et al. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet. 2010;19:3693-701 pubmed publisher
    ..The findings of this study will facilitate the discovery of factors that modify ABCA4 disease and will also aid in the optimal selection of subjects for clinical trials of new therapies...
  24. Paloma E, Martinez Mir A, Vilageliu L, Gonzalez Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Hum Mutat. 2001;17:504-10 pubmed
    ..involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fundus flavimaculatus), and two CRD (Cone-rod dystrophy) patients...
  25. Sun H, Smallwood P, Nathans J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet. 2000;26:242-6 pubmed
    Mutations in the gene encoding ABCR (ABCA4), a photoreceptor-specific ATP-binding cassette (ABC) transporter, are responsible for autosomal recessive Stargardt disease (STGD), an early onset macular degeneration, and some forms of ..
  26. Allikmets R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;17:122 pubmed
  27. Burke T, Allikmets R, Smith R, Gouras P, Tsang S. Loss of peripapillary sparing in non-group I Stargardt disease. Exp Eye Res. 2010;91:592-600 pubmed publisher
    ..e. groups II and III. The presence of atrophy suggests a continuum of disease between groups II and III. Loss of peripapillary sparing is likely associated with the more deleterious mutations of the ABCA4 gene...
  28. Allikmets R, Wasserman W, Hutchinson A, Smallwood P, Nathans J, Rogan P, et al. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene. 1998;215:111-22 pubmed
    Mutations in the human ABCR gene have been associated with the autosomal recessive Stargardt disease (STGD), retinitis pigmentosa (RP19), and cone-rod dystrophy (CRD) and have also been found in a fraction of age-related macular ..
  29. Westeneng van Haaften S, Boon C, Cremers F, Hoefsloot L, den Hollander A, Hoyng C. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 2012;119:1199-210 pubmed publisher
    To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1).
  30. Azarian S, Travis G. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 1997;409:247-52 pubmed
    b>Rim protein (RmP) is a high-Mr membrane glycoprotein that has been localized to the rims of photoreceptor outer segment discs, but its molecular identity is unknown...
  31. Azarian S, Megarity C, Weng J, Horvath D, Travis G. The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis. Hum Genet. 1998;102:699-705 pubmed
    b>Rim protein (RmP) is an integral membrane glycoprotein localized to the rims of photoreceptor outer-segment discs. It belongs to the ABC transporter superfamily, but its function in the retina has not been determined...
  32. Klevering B, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born L, et al. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet. 2004;12:1024-32 pubmed
    Mutations in the ABCA4 gene have been associated with autosomal recessive Stargardt disease (STGD1), cone-rod dystrophy (CRD), and retinitis pigmentosa (RP)...
  33. Fishman G, Stone E, Eliason D, Taylor C, Lindeman M, Derlacki D. ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch Ophthalmol. 2003;121:851-5 pubmed
    ..To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy...
  34. Beaty T, Murray J, Marazita M, Munger R, Ruczinski I, Hetmanski J, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42:525-9 pubmed publisher
    ..Expression studies support a role for MAFB in palatal development...
  35. Fujinami K, Zernant J, Chana R, Wright G, Tsunoda K, Ozawa Y, et al. ABCA4 gene screening by next-generation sequencing in a British cohort. Invest Ophthalmol Vis Sci. 2013;54:6662-74 pubmed publisher
    ..We applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations...
  36. Chacon Camacho O, Granillo Alvarez M, Ayala Ramirez R, Zenteno J. ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. Exp Eye Res. 2013;109:77-82 pubmed publisher
    ..A1773V mutation in the Mexican population. The identification of recurrent mutations in our cohort will direct future ABCA4 molecular screening in patients from this ethnic group...
  37. Allikmets R, Shroyer N, Singh N, Seddon J, Lewis R, Bernstein P, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-7 pubmed
    ..Here, 167 unrelated AMD patients were screened for alterations in ABCR, a gene that encodes a retinal rod photoreceptor protein and is defective in Stargardt disease, a common hereditary ..
  38. Webster A, Heon E, Lotery A, Vandenburgh K, Casavant T, Oh K, et al. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2001;42:1179-89 pubmed
    ..To assess the allelic variation of the ATP-binding transporter protein (ABCA4)...
  39. Burke T, Tsang S. Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet. 2011;32:165-74 pubmed publisher
    ..In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Important differential diagnoses are presented and unusual presentations of ABCA4 disease highlighted...
  40. Paloma E, Coco R, Martinez Mir A, Vilageliu L, Balcells S, Gonzalez Duarte R. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Hum Mutat. 2002;20:476 pubmed
    ..of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM)...
  41. Ducroq D, Rozet J, Gerber S, Perrault I, Barbet D, Hanein S, et al. The ABCA4 gene in autosomal recessive cone-rod dystrophies. Am J Hum Genet. 2002;71:1480-2 pubmed
  42. Zhong M, Molday L, Molday R. Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases. J Biol Chem. 2009;284:3640-9 pubmed publisher
    ..This motif also contributes to the efficient folding of ABCA1 into an active protein. Our results provide a molecular based rationale for the disease phenotype displayed by individuals with mutations in the C terminus of ABCA4...
  43. Baum L, Chan W, Li W, Lam D, Wang P, Pang C. ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease. Ophthalmologica. 2003;217:111-4 pubmed
    ABCA4 gene sequence alterations cause Stargardt's disease (STGD) and may cause some age-related macular degeneration (AMD)...
  44. Valverde D, Riveiro Alvarez R, Aguirre Lamban J, Baiget M, Carballo M, Antinolo G, et al. Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. Invest Ophthalmol Vis Sci. 2007;48:985-90 pubmed
    ..The purpose of this study is to describe the spectrum of mutations in the ABCA4 gene found in Spanish patients affected with several retinal dystrophies...
  45. Hargitai J, Zernant J, Somfai G, Vamos R, Farkas A, Salacz G, et al. Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2005;46:4402-8 pubmed
    ....
  46. Maugeri A, van Driel M, van de Pol D, Klevering B, van Haren F, Tijmes N, et al. 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. Am J Hum Genet. 1999;64:1024-35 pubmed
    ..with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37...
  47. Riveiro Alvarez R, Aguirre Lamban J, Lopez Martinez M, Trujillo Tiebas M, Cantalapiedra D, Vallespin E, et al. Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. Br J Ophthalmol. 2009;93:1359-64 pubmed publisher
    ..To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population...
  48. Sun H, Molday R, Nathans J. Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem. 1999;274:8269-81 pubmed
    ..used this property as a criterion to search for natural and artificial substrates and/or allosteric regulators of ABCR, the rod photoreceptor-specific ABC transporter responsible for Stargardt disease, an early onset macular ..
  49. Lewis R, Shroyer N, Singh N, Allikmets R, Hutchinson A, Li Y, et al. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999;64:422-34 pubmed
    ..DNA sequencing of all 50 exons of ABCR were completed for 150 families segregating recessive Stargardt disease (STGD1)...
  50. Maia Lopes S, Aguirre Lamban J, Castelo Branco M, Riveiro Alvarez R, Ayuso C, Silva E. ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis. Mol Vis. 2009;15:584-91 pubmed
    ..spectrum of causative retina-specific ATP-binding cassette transporter gene (ABCA4) gene mutations in Portuguese Stargardt (STGD) patients and compare allele frequencies obtained in this cohort with those of previous population surveys.
  51. Zernant J, Schubert C, Im K, Burke T, Brown C, Fishman G, et al. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci. 2011;52:8479-87 pubmed publisher
    ..To find all possible disease-associated variants in coding sequences of the ABCA4 gene in a large cohort of patients diagnosed with ABCA4-associated diseases...
  52. Burke T, Tsang S, Zernant J, Smith R, Allikmets R. Familial discordance in Stargardt disease. Mol Vis. 2012;18:227-33 pubmed
    ..genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, ..
  53. Yatsenko A, Shroyer N, Lewis R, Lupski J. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001;108:346-55 pubmed
    Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates ..
  54. Martinez Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18:11-2 pubmed
  55. Rozet J, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998;6:291-5 pubmed
    ..Recently, mutations of the photoreceptor cell-specific ATP binding transporter gene (ABCR) have been reported in Stargardt disease...
  56. Genead M, Fishman G, Stone E, Allikmets R. The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2009;50:5867-71 pubmed publisher
    ..To determine longitudinal changes in fundus appearance and visual function in patients with Stargardt with at least one allelic mutation (Gly1961Glu) in the ABCA4 gene...
  57. Fishman G, Stone E, Grover S, Derlacki D, Haines H, Hockey R. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol. 1999;117:504-10 pubmed
    To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene.
  58. Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, et al. An analysis of ABCR mutations in British patients with recessive retinal dystrophies. Invest Ophthalmol Vis Sci. 2000;41:16-9 pubmed
    Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD)...
  59. Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet. 2002;10:197-203 pubmed
    ..individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US...
  60. Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, et al. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2000;41:892-7 pubmed
    To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM).
  61. Ludwig K, Mangold E, Herms S, Nowak S, Reutter H, Paul A, et al. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet. 2012;44:968-71 pubmed publisher
    ..51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16). ..
  62. Beit Ya acov A, Mizrahi Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, et al. Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Invest Ophthalmol Vis Sci. 2007;48:4308-14 pubmed
    ..To clinically characterize and genetically analyze members of six families who reside in the same village and manifest a rare form of retinal degeneration...