De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
about
PHR1 encodes an abundant, pleckstrin homology domain-containing integral membrane protein in the photoreceptor outer segmentsMutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosisThe leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulationBEST1 expression in the retinal pigment epithelium is modulated by OTX family membersLeber 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.Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisZinc-finger domains of the transcriptional repressor KLF15 bind multiple sites in rhodopsin and IRBP promoters including the CRS-1 and G-rich repressor elementsA novel locus for Leber congenital amaurosis maps to chromosome 6qA range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentIdentification 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 miceIdentification of regulatory targets of tissue-specific transcription factors: application to retina-specific gene regulation.Retinal dystrophies, genomic applications in diagnosis and prospects for therapyAAV-mediated gene therapy in mouse models of recessive retinal degenerationDawn of ocular gene therapy: implications for molecular diagnosis in retinal diseaseA novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosisUpdate on the molecular genetics of retinitis pigmentosaCHX10 targets a subset of photoreceptor genesAutosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX geneThe photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genesMultiple episodes of convergence in genes of the dim light vision pathway in batsThe zinc finger transcription factor, MOK2, negatively modulates expression of the interphotoreceptor retinoid-binding protein gene, IRBP.Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.A study of candidate genes for day blindness in the standard wire haired dachshundStructure of cone photoreceptors.Genomic organization of zebrafish cone-rod homeobox gene and exclusion as a candidate gene for retinal degeneration in niezerka and mikre oko.Analysis of transcriptional regulatory pathways of photoreceptor genes by expression profiling of the Otx2-deficient retina.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.Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements.The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX.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 retinopathiesPathways to photoreceptor cell death in inherited retinal degenerations.Finding and interpreting genetic variations that are important to ophthalmologists.Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11
P2860
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P2860
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@ast
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@en
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@nl
type
label
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@ast
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@en
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@nl
prefLabel
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@ast
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@en
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
@en
P2093
P2860
P2888
P304
P3181
P356
10.1038/NG0498-311
P407
P577
1998-04-01T00:00:00Z