NRL Antibody, FITC conjugated

1. that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup PMID: 29533784
2. We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa. PMID: 28106895
3. investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD) PMID: 28590779
4. This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype. PMID: 27732723
5. The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family. PMID: 27081294
6. In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation. PMID: 23534816
7. This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa. PMID: 21981118
8. Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis. PMID: 20551322
9. In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP. PMID: 19933183
10. The disease caused by NRL mutations found in this study appears to be more severe PMID: 11879142
11. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. PMID: 12552256
12. the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina PMID: 12566383
13. The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity. PMID: 12796249
14. both Nrl and Crx are required for full transcriptional activity of the PDE6A gene PMID: 15001570
15. the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes PMID: 15328344
16. Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome PMID: 15459973
17. an unusual clinical phenotype in humans with loss-of-function mutations in NRL PMID: 15591106
18. signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination PMID: 16854989
19. Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity. PMID: 17335001
20. six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina. PMID: 11477108

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HGNC: 8002

OMIM: 162080

KEGG: hsa:4901

STRING: 9606.ENSP00000380193

UniGene: Hs.652297