A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
about
The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulationIdentification and subcellular localization of the RP1 protein in human and mouse photoreceptorsMafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin geneInteraction between optineurin and the bZIP transcription factor NRLRecessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone functionAssociation 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 pigmentosaRetinoic acid regulates the expression of photoreceptor transcription factor NRLIdentification 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 ZebrafishStructural Basis of Alternative DNA Recognition by Maf Transcription FactorsBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsMultiple phosphorylated isoforms of NRL are expressed in rod photoreceptorsFurther delineation of the chromosome 14q terminal deletion syndromeUpdate on the molecular genetics of retinitis pigmentosaFunctional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activityThe minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding proteinAn immune response after intraocular administration of an adenoviral vector containing a beta galactosidase reporter gene slows retinal degeneration in the rd mouseThe absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatmentAutosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX genePrevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesIsolation of a zebrafish rod opsin promoter to generate a transgenic zebrafish line expressing enhanced green fluorescent protein in rod photoreceptors.Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.The cis-regulatory logic of the mammalian photoreceptor transcriptional network.FIZ1 is part of the regulatory protein complex on active photoreceptor-specific gene promoters in vivo.Expressed sequence tag analysis of guinea pig (Cavia porcellus) eye tissues for NEIBank.Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus.Rod photoreceptor differentiation in fetal and infant human retina.Sumoylation of bZIP transcription factor NRL modulates target gene expression during photoreceptor differentiation.Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements.The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX.Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors.Different effects of valproic acid on photoreceptor loss in Rd1 and Rd10 retinal degeneration miceRegulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis.Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.The transcription factor neural retina leucine zipper (NRL) controls photoreceptor-specific expression of myocyte enhancer factor Mef2c from an alternative promoter.
P2860
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P2860
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@ast
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@en
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@nl
type
label
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@ast
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@en
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@nl
prefLabel
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@ast
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@en
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@nl
P2093
P3181
P356
P1433
P1476
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
@en
P2093
D A Bessant
K P Mitton
S S Bhattacharya
P2888
P3181
P356
10.1038/7678
P407
P577
1999-04-01T00:00:00Z
P5875
P6179
1000479302