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
about
Cone rod dystrophiesThe leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulationSpata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retinaHeterozygous mutations of OTX2 cause severe ocular malformationsLeber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) geneRetinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisMutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsRetinoic acid regulates the expression of photoreceptor transcription factor NRLSynaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceRetinal dystrophies, genomic applications in diagnosis and prospects for therapyPhotoreceptor cell fate specification in vertebratesAAV-mediated gene therapy in mouse models of recessive retinal degenerationBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsA 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 genotypeMultiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsAutosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX geneCloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cellsRecovery of visual functions in a mouse model of Leber congenital amaurosisBarrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.CRX is a diagnostic marker of retinal and pineal lineage tumorsMutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.The use of induced pluripotent stem cells to reveal pathogenic gene mutations and explore treatments for retinitis pigmentosa.A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.Genomic organization of zebrafish cone-rod homeobox gene and exclusion as a candidate gene for retinal degeneration in niezerka and mikre oko.Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.Functional domains of the cone-rod homeobox (CRX) transcription factor.Mutation discovered in a feline model of human congenital retinal blinding disease.Recent advances in the molecular basis of inherited photoreceptor degeneration.Identification of novel retinal target genes of thyroid hormone in the human WERI cells by expression microarray analysis.Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathiesMissense mutations of human homeoboxes: A review.Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Mechanistically distinct mouse models for CRX-associated retinopathy.
P2860
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P2860
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
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Leber congenital amaurosis cau ...... ment of photoreceptor function
@ast
Leber congenital amaurosis cau ...... ment of photoreceptor function
@en
Leber congenital amaurosis cau ...... ment of photoreceptor function
@nl
type
label
Leber congenital amaurosis cau ...... ment of photoreceptor function
@ast
Leber congenital amaurosis cau ...... ment of photoreceptor function
@en
Leber congenital amaurosis cau ...... ment of photoreceptor function
@nl
prefLabel
Leber congenital amaurosis cau ...... ment of photoreceptor function
@ast
Leber congenital amaurosis cau ...... ment of photoreceptor function
@en
Leber congenital amaurosis cau ...... ment of photoreceptor function
@nl
P2093
P356
P1476
Leber congenital amaurosis cau ...... ment of photoreceptor function
@en
P2093
P A Sieving
P304
P356
10.1093/HMG/8.2.299
P407
P577
1999-02-01T00:00:00Z