Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
about
Retinal dystrophies, genomic applications in diagnosis and prospects for therapyRole of Nuclear Receptors in Central Nervous System Development and Associated DiseasesThe Crystal Structure of the Orphan Nuclear Receptor NR2E3/PNR Ligand Binding Domain Reveals a Dimeric Auto-Repressed ConformationSystematic analyses of the cytotoxic effects of compound 11a, a putative synthetic agonist of photoreceptor-specific nuclear receptor (PNR), in cancer cell linesCausal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.The unfulfilled gene is required for the development of mushroom body neuropil in Drosophila.VFMA: Topographic Analysis of Sensitivity Data From Full-Field Static PerimetryMutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.In pursuit of synthetic modulators for the orphan retina-specific nuclear receptor NR2E3A profile of transcriptomic changes in the rd10 mouse model of retinitis pigmentosa.Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencingExcess cones in the retinal degeneration rd7 mouse, caused by the loss of function of orphan nuclear receptor Nr2e3, originate from early-born photoreceptor precursorsDominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesMutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same familyLoss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesA novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.Inherited diseases of photoreceptors and prospects for gene therapy.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosaDifferential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransductionCellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 geneA comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal diseaseTop2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network.Walking the interactome for prioritization of candidate disease genes.Genetic disorders of nuclear receptors.Rethinking Nuclear Receptors as Potential Therapeutic Targets for Retinal Diseases.Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.Bevacizumab for choroidal neovascularisation in enhanced S-cone syndrome.
P2860
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P2860
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@ast
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@en
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@nl
type
label
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@ast
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@en
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@nl
prefLabel
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@ast
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@en
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@nl
P2093
P2860
P50
P3181
P356
P1476
Recurrent mutation in the firs ...... dominant retinitis pigmentosa
@en
P2093
Bart P Leroy
Diane Beysen
Frauke Coppieters
Guy Haegeman
Jan Hellemans
Kirsten Robberecht
Paul J Coucke
P2860
P304
P3181
P356
10.1086/518426
P407
P577
2007-07-01T00:00:00Z