Recombinant Human Cone-rod homeobox protein (CRX)

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. A novel CRX pathogenic variant has been identified in our patients. The novel pathogenic variant seems to have a different effect on the phenotype of cone-rod dystrophy. PMID: 30078014
3. A sensitive and simple method of tumour cell assessment has been developed that can be used in the clinics to assess for potential extraocular dissemination after intravitreal injections to assure its performance. PMID: 29089355
4. we revealed a novel frameshift mutation (NM_000554.4:c.538dupG:p.Val180fs) in exon 4 of the CRX gene in a Chinese family with Cone-rod dystrophy. This study broadens the known pathogenic mutation spectrum of the CRX gene and contributes to improved genetic counseling for Cone-rod dystrophy patients. PMID: 30095615
5. analysis of a homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 interacts with CRX and is expressed in retina PMID: 27734943
6. CRX mutations are associated with a variety of clinical phenotypes, including an adult-onset macular dystrophy that simulates benign concentric annular macular dystrophy with a bull's eye macular lesion and fairly well preserved visual acuity. PMID: 28945142
7. data demonstrate the successful application of ZFN technology to generate CRX-GFP labeled hESC lines, which can be used to study and isolate photoreceptor precursors during hESC differentiation. PMID: 26608863
8. Loss of OTX2 expression resulted in decreased expression of C-MYC and CRX, genes previously implicated in retinoblastoma tumorigenesis. Loss of OTX2 expression increased the phosphorylation of RB, a potential mechanism of modulating cell proliferation PMID: 26397460
9. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for leber congenital amaurosis. PMID: 24093488
10. Con rod homeobox protein mRNA is a novel marker for retinoblastoma at extraocular sites. PMID: 25928893
11. Two de novo mutations in CRX were found in Chinese patients with Leber congenital amaurosis. The CRX mutation might create a dominantly inherited trait. PMID: 24001014
12. Mutations in CRX demonstrate significant phenotypic heterogeneity both between and within pedigrees. A novel, adult-onset, macular dystrophy phenotype is characterized, further extending our knowledge of the etiology of dominant macular dystrophies. PMID: 25270190
13. CRX could be useful in surgical neuropathology for the differential diagnosis of pineal region tumors, in particular to discriminate pineal tumors from glial tumors PMID: 24555912
14. Data have identified a novel retinal SAM domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression. PMID: 23565263
15. the potential utility of CRX as a marker of pineal lineage in routine diagnostic neuropathology. PMID: 23235340
16. In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val) PMID: 22960069
17. These findings suggest that CRX is a useful marker to discriminate metastatic retinoblastoma from other, more common, malignant small round cell tumors of childhood PMID: 22790857
18. Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. PMID: 22558175
19. Data show no interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA. PMID: 21966431
20. CRX has a role in retinal and pineal lineage tumors PMID: 19936203
21. DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX PMID: 19823680
22. Two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations. PMID: 11748859
23. The frameshift mutation in CRX gene in the patient with Leber congenital amaurosis did not cause impairment in vision PMID: 11910559
24. results support the hypothesis that CRX mutations involved in human photoreceptor degeneration act by impairing CRX-mediated transcriptional regulation of the photoreceptor genes PMID: 11971869
25. A novel frameshift mutation was detected in exon III of the CRX retinal homeobox gene. PMID: 12359607
26. both Nrl and Crx are required for full transcriptional activity of the PDE6A gene PMID: 15001570
27. A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy PMID: 15531334
28. Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors. PMID: 15689355
29. description of a 2-generation family with a novel mutation in CRX; the resulting phenotype is that of cone-rod dystrophy with variable age at onset and progression PMID: 17320181
30. Transmission of the disease through three generations provides evidence that Lebers congenital amaurosis is transmitted as an autosomal dominant trait. PMID: 17347810
31. authors identified a novel disease causing mutation, c.636delC, in the CRX gene, associated with autosomal dominant cone-rod dystrophy PMID: 18653602
32. CRX expression in the inner nuclear layer of the retina. PMID: 19686387

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HGNC: 2383

OMIM: 120970

KEGG: hsa:1406

STRING: 9606.ENSP00000221996

UniGene: Hs.617342