A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
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BEST1 expression in the retinal pigment epithelium is modulated by OTX family membersHeterozygous 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) geneNull RPGRIP1 alleles in patients with Leber congenital amaurosis.Zinc-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 novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisNovel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluationsMolecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentMutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant miceRetinal dystrophies, genomic applications in diagnosis and prospects for therapyBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsUpdate on the molecular genetics of retinitis pigmentosaInfantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locusPrevalence 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 geneCloning and characterization of mr-s, a novel SAM domain protein, predominantly expressed in retinal photoreceptor cellsThe 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 batsExpression of rod-derived cone viability factor: dual role of CRX in regulating promoter activity and cell-type specificityThe zinc finger transcription factor, MOK2, negatively modulates expression of the interphotoreceptor retinoid-binding protein gene, IRBP.Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesCone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells.Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.Kruppel-like factor 15, a zinc-finger transcriptional regulator, represses the rhodopsin and interphotoreceptor retinoid-binding protein promotersA study of candidate genes for day blindness in the standard wire haired dachshundGenomic 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.The genetics of keratoconus.Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.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.The potential of marrow stromal cells in stem cell therapy.
P2860
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P2860
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին 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
A range of clinical phenotypes ...... ptor transcription-factor gene
@nl
A range of clinical phenotypes ...... tor transcription-factor gene.
@ast
A range of clinical phenotypes ...... tor transcription-factor gene.
@en
type
label
A range of clinical phenotypes ...... ptor transcription-factor gene
@nl
A range of clinical phenotypes ...... tor transcription-factor gene.
@ast
A range of clinical phenotypes ...... tor transcription-factor gene.
@en
prefLabel
A range of clinical phenotypes ...... ptor transcription-factor gene
@nl
A range of clinical phenotypes ...... tor transcription-factor gene.
@ast
A range of clinical phenotypes ...... tor transcription-factor gene.
@en
P2093
P2860
P3181
P356
P1476
A range of clinical phenotypes ...... tor transcription-factor gene.
@en
P2093
C L Freund
H A Mintz-Hittner
J R Heckenlively
L S Sullivan
M M Sohocki
R R McInnes
P2860
P304
P3181
P356
10.1086/302101
P407
P577
1998-11-01T00:00:00Z