Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
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The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationRecessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone functionMolecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentAn Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndromeRetinoic acid regulates the expression of photoreceptor transcription factor NRLIn-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseMutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformationsRecurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaIdentification of regulatory targets of tissue-specific transcription factors: application to retina-specific gene regulation.A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome.Minireview: the role of nuclear receptors in photoreceptor differentiation and diseaseRole 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 ZebrafishFunction of human pluripotent stem cell-derived photoreceptor progenitors in blind miceThe Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed ConformationBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsA cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor functionUpdate on the molecular genetics of retinitis pigmentosaRetinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor developmentSystematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell linesEpigenomic landscapes of retinal rods and conesNuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genesPotential of Small Molecule-Mediated Reprogramming of Rod Photoreceptors to Treat Retinitis PigmentosaThe orphan nuclear hormone receptor ERRbeta controls rod photoreceptor survival.Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.The C. elegans Tailless/TLX transcription factor nhr-67 controls neuronal identity and left/right asymmetric fate diversificationThe unfulfilled gene is required for the development of mushroom body neuropil in Drosophila.The cis-regulatory logic of the mammalian photoreceptor transcriptional network.Specificity of DNA-binding by the FAX-1 and NHR-67 nuclear receptors of Caenorhabditis elegans is partially mediated via a subclass-specific P-box residue.FIZ1 is part of the regulatory protein complex on active photoreceptor-specific gene promoters in vivo.Structure of cone photoreceptors.Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Engineering retina from human retinal progenitors (cell lines).A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retinaRetinal ultrastructure of murine models of dry age-related macular degeneration (AMD).The nuclear receptor gene family in the Pacific oyster, Crassostrea gigas, contains a novel subfamily groupNuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.Analysis of transcriptional regulatory pathways of photoreceptor genes by expression profiling of the Otx2-deficient retina.
P2860
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P2860
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
description
2000 nî lūn-bûn
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2000 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@ast
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@en
type
label
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@ast
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@en
prefLabel
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@ast
Mutation of a nuclear receptor ...... disorder of retinal cell fate.
@en
P2093
P50
P356
P1433
P1476
Mutation of a nuclear receptor ...... disorder of retinal cell fate
@en
P2093
Cideciyan AV
Fishman GA
P2888
P304
P356
10.1038/72777
P407
P577
2000-02-01T00:00:00Z