Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
about
Cone rod dystrophiesOC-2, a novel mammalian member of the ONECUT class of homeodomain transcription factors whose function in liver partially overlaps with that of hepatocyte nuclear factor-6Identification 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 membersMutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouseHeterozygous mutations of OTX2 cause severe ocular malformationsA 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 13The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retinaAssociation of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic diseaseMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosaMolecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentSynaptogenesis 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 therapyPhotoreceptor cell fate specification in vertebratesRole of Nuclear Receptors in Central Nervous System Development and Associated DiseasesGenetic 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 modelsDivergent homeobox gene hex regulates promoter of the Na(+)-dependent bile acid cotransporterVisual improvement in Leber congenital amaurosis and the CRX genotypeMultiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsUpdate on the molecular genetics of retinitis pigmentosaDe 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 retinopathiesAn immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouseAutosomal 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 cellsFunctional analysis of transcriptional repressor Otx3/Dmbx1Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesA 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 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 specificityMassively parallel cis-regulatory analysis in the mammalian central nervous systemThe 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 families
P2860
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P2860
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին 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
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@ast
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en-gb
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@nl
type
label
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@ast
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en-gb
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@nl
prefLabel
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@ast
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en-gb
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@nl
P2093
P921
P3181
P1433
P1476
Cone-rod dystrophy due to muta ...... intenance of the photoreceptor
@en
P2093
A Loutradis-Anagnostou
C Y Gregory-Evans
J A Herbrick
J Bellingham
P304
P3181
P356
10.1016/S0092-8674(00)80440-7
P407
P577
1997-11-01T00:00:00Z