Molecular genetics of Leber congenital amaurosis

Human Molecular Genetics

Volumn 11, Issue 10, 2002, Pages 1169-1176

  Cremers, Frans P M ^a   van den Hurk, José A J M ^a   den Hollander, Anneke I ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTROPHIC FACTOR; RETINAL; RETINOL; EYE PROTEIN;

AGE; ANIMAL EXPERIMENT; ANIMAL MODEL; CELL STRUCTURE; CHILDHOOD DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG MECHANISM; EMBRYO DEVELOPMENT; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE THERAPY; HUMAN; HYPOTHESIS; LEBER CONGENITAL AMAUROSIS; MOLECULAR GENETICS; MOUSE; NONHUMAN; PHOTORECEPTOR CELL; PHOTOTRANSDUCTION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; REGULATORY MECHANISM; RETINA; RETINA DEVELOPMENT; RETINA DYSTROPHY; REVIEW; VITAMIN METABOLISM; BLINDNESS; EYE DISEASE; GENETICS; MUTATION; RETINA DEGENERATION;

ANIMALIA; CANIS FAMILIARIS;

BLINDNESS; EYE DISEASES, HEREDITARY; EYE PROTEINS; HUMANS; MUTATION; RETINAL DEGENERATION;

EID: 0037092594     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.10.1169     Document Type: Review

References (91)

1. Amaurosis congenita (Leber)
2. Clinical and genetic heterogeneity in retinitis pigmentosa
3. Leber congenital amaurosis
4. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene
5. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
6. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the Crumbs homologue 1 (CRB1) gene
7. Mutations in the CRB1 gene cause Leber congenital amaurosis
8. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
9. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
10. Mutations in RPE65 cause Leber's congenital amaurosis
11. Null RPGRIP1 alleles in patients with Leber congenital amaurosis
12. A novel locus for Leber congenital amaurosis on chromosome 14q24
13. A novel locus for Leber congenital amaurosis maps to chromosome 6q
14. Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa
15. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
16. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
17. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
18. Classification of congenital and early onset retinitis pigmentosa
19. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
20. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes
21. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) required for maintenance of the mammalian photoreceptor
22. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
23. Molecular cloning of a retina-specific membrane guanylyl cyclase
24. The Retinitis Pigmentosa GTPase Regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
25. Retinitis pigmentosa GTPase regulator (RPGR)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
26. Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development
27. Identification of a novel protein interacting with RPGR
28. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
29. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
30. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
31. Crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia
32. A conserved motif in Crumbs is required for E-cadherin localisation and zonula adherens formation in Drosophila
33. Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres
34. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
35. Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression
36. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation
37. Retinopathy and attenuated circadian entrainment in Crx-deficient mice
38. Ultrastructural localization of retinal guanylate cyclase in human and monkey retinas
39. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
40. Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
41. The sights along route 65
42. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
43. Prevalence of AIPL1 mutations in inherited retinal degenerative disease
44. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
45. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation
46. Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
47. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function
48. Mutation analysis of 3 genes in patients with Leber congenital amaurosis
49. A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype
50. Visual improvement in Leber congenital amaurosis and the CRX genotype
51. Nuclear trafficking of photoreceptor protein crx: The targeting sequence and pathologic implications
52. Functional domains of the cone-rod homeobox (CRX) transcription factor
53. A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan
54. Mutational analysis and clinical correlation in Leber congenital amaurosis
55. Spectrum of retGC1 mutations in Leber's congenital amaurosis
56. Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis
57. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to Leber congenital amaurosis (LCA). Invest
58. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy
59. A retGC-1 mutation in autosomal dominant cone-rod dystrophy
60. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase
61. Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: Hot spots for mutations in autosomal dominant cone-rod dystrophy?
62. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1
63. Mutations in the rod outer segment membrane guanylate cyclase in cone-rod dystrophy cause defects in calcium signaling
64. Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy
65. Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy
66. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
67. Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
68. Mutational analysis and clinical correlation in Leber congenital amaurosis
69. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
70. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis
71. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
72. Implications of genetic analysis in Leber congenital amaurosis
73. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis
74. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
75. Molecular genetics and prospects for therapy of the inherited retinal dystrophies
76. Visual field loss in RCS rats and the effect of RPE cell transplantation
77. Photoreceptor layer reconstruction in a rodent model of retinal degeneration
78. Adenovirus-mediated gene transfer of ciliary neurotrophic factor can prevent photoreceptor degeneration in the retinal degeneration (rd) mouse
79. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse
80. Adenovirally expressed basic fibroblast growth factor rescues photoreceptor cells in RCS rats
81. Adenovirus-mediated delivery of rhodopsin-promoted bcl-2 results in a delay in photoreceptor cell death in the rd/rd mouse
82. Retinitis pigmentosa: Rod photoreceptor rescue by a calcium-channel blocker in the rd mouse
83. Gene therapy for ocular disease
84. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
85. Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa
86. New views on RPE65 deficiency: The rod system is the source of vision in a mouse model of Leber congenital amaurosis
87. Gene therapy restores vision in a canine model of childhood blindness
88. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
89. A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina
90. RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes