Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
about
Cone rod dystrophiesIdentification of a photoreceptor cell-specific nuclear receptorThe 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 membersZinc-finger domains of the transcriptional repressor KLF15 bind multiple sites in rhodopsin and IRBP promoters including the CRS-1 and G-rich repressor elementsA range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Modulation of CRX transactivation activity by phosducin isoformsPaired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart diseaseAssociation of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic diseaseMolecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentRetinoic acid regulates the expression of photoreceptor transcription factor NRLSynaptogenesis 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 therapyGenetic Dissection of Dual Roles for the Transcription Factor six7 in Photoreceptor Development and Patterning in ZebrafishBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMultiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsDe novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisCHX10 targets a subset of photoreceptor genesPrevalence 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 geneA pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRXThe photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genesExpression 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 familiesEnhanced protein domain discovery by using language modeling techniques from speech recognition.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 dachshundStructure of cone photoreceptors.CRX is a diagnostic marker of retinal and pineal lineage tumorsA 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.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.
P2860
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P2860
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@ast
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@en
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@nl
type
label
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@ast
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@en
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@nl
prefLabel
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@ast
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@en
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@nl
P2093
P50
P3181
P1433
P1476
Mutations in the cone-rod home ...... phy photoreceptor degeneration
@en
P2093
G A Fishman
L M Affatigato
P A Sieving
P304
P3181
P356
10.1016/S0896-6273(00)80423-7
P407
P577
1997-12-01T00:00:00Z