Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
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AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteinsSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaThe inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneNull RPGRIP1 alleles in patients with Leber congenital amaurosis.Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisAIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesteraseNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsIdentification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localizationSynaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceRetinal dystrophies, genomic applications in diagnosis and prospects for therapyDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targetingA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisVisual improvement in Leber congenital amaurosis and the CRX genotypeInfantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathiesAutosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX geneComparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humansLeber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesteraseRecovery of visual functions in a mouse model of Leber congenital amaurosisAttenuation of the activity of the cAMP-specific phosphodiesterase PDE4A5 by interaction with the immunophilin XAP2Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease.Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.CRX is a diagnostic marker of retinal and pineal lineage tumorsDiscovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutationsThe Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cellsWhich Leber congenital amaurosis patients are eligible for gene therapy trials?Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian catsRecent advances in the molecular basis of inherited photoreceptor degeneration.The inherited blindness protein AIPL1 regulates the ubiquitin-like FAT10 pathwayFinding and interpreting genetic variations that are important to ophthalmologists.The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor ciliumUnion makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
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P2860
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
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2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2000 թվականի հունվարին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@ast
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en-gb
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
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type
label
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@ast
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en-gb
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@nl
prefLabel
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@ast
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en-gb
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@nl
P2093
P2860
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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
@en
P2093
J R Heckenlively
L S Sullivan
M M Sohocki
S Blackshaw
P2860
P2888
P3181
P356
10.1038/71732
P407
P577
2000-01-01T00:00:00Z
P5875
P6179
1026159430