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NCBI Gene PubMed Count 52
PubMed Score 265.54
PubTator Score 170.17

Knowledge Summary

Patent

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Gene RIF (29)

PMID Text
26608863 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.
26397460 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
25928893 Con rod homeobox protein mRNA is a novel marker for retinoblastoma at extraocular sites.
25270190 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.
24555912 CRX could be useful in surgical neuropathology for the differential diagnosis of pineal region tumors, in particular to discriminate pineal tumors from glial tumors
24093488 Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for leber congenital amaurosis.
24001014 Two de novo mutations in CRX were found in Chinese patients with Leber congenital amaurosis. The CRX mutation might create a dominantly inherited trait.
23565263 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.
23235340 the potential utility of CRX as a marker of pineal lineage in routine diagnostic neuropathology.
22960069 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)
22790857 These findings suggest that CRX is a useful marker to discriminate metastatic retinoblastoma from other, more common, malignant small round cell tumors of childhood
22558175 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.
21966431 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.
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
19936203 CRX has a role in retinal and pineal lineage tumors
19823680 DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX
19753312 Observational study of gene-disease association. (HuGE Navigator)
19686387 CRX expression in the inner nuclear layer of the retina.
18653602 authors identified a novel disease causing mutation, c.636delC, in the CRX gene, associated with autosomal dominant cone-rod dystrophy
17347810 Transmission of the disease through three generations provides evidence that Lebers congenital amaurosis is transmitted as an autosomal dominant trait.
17320181 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
15689355 Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors.
15531334 A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy
15001570 both Nrl and Crx are required for full transcriptional activity of the PDE6A gene
12359607 A novel frameshift mutation was detected in exon III of the CRX retinal homeobox gene.
11971869 results support the hypothesis that CRX mutations involved in human photoreceptor degeneration act by impairing CRX-mediated transcriptional regulation of the photoreceptor genes
11910559 The frameshift mutation in CRX gene in the patient with Leber congenital amaurosis did not cause impairment in vision
11748859 Two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations.

AA Sequence

MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYARE      1 - 70
EVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISD     71 - 140
SYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGS    141 - 210
PSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTY    211 - 280
NPMDPLDYKDQSAWKFQIL                                                       281 - 299
//

Text Mined References (56)

PMID Year Title
26608863 2016 Using Zinc Finger Nuclease Technology to Generate CRX-Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation.
26397460 2015 OTX2 is a therapeutic target for retinoblastoma and may function as a common factor between C-MYC, CRX, and phosphorylated RB pathways.
25928893 2015 Association of Cone-Rod Homeobox Transcription Factor Messenger RNA With Pediatric Metastatic Retinoblastoma.
25416956 2014 A proteome-scale map of the human interactome network.
25270190 2014 The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
24555912 Is CRX protein a useful marker in differential diagnosis of tumors of the pineal region?
24093488 2015 Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
24001014 2015 De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
23565263 2013 Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.
23235340 2013 CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors.
22960069 2012 CRX variants in cone-rod dystrophy and mutation overview.
22790857 2012 Immunohistochemical expression of CRX in extracranial malignant small round cell tumors.
22558175 2012 Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD.
22458338 2012 Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses.
21966431 2011 No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA.
21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20513135 2010 Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.
19936203 2009 CRX is a diagnostic marker of retinal and pineal lineage tumors.
19823680 2009 Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.
19753312 2009 Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
19686387 2009 Differential CRX and OTX2 expression in human retina and retinoblastoma.
18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.
18653602 2008 Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
17347810 2007 Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.
17320181 2007 Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15689355 2005 The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
15531334 2004 Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15143176 2004 Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.
15057824 2004 The DNA sequence and biology of human chromosome 19.
15028672 2004 QRX, a novel homeobox gene, modulates photoreceptor gene expression.
15001570 2004 Functional analysis of the rod photoreceptor cGMP phosphodiesterase alpha-subunit gene promoter: Nrl and Crx are required for full transcriptional activity.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12408971 2002 Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse.
12359607 2002 Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
12208271 2002 Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.
11971869 2002 Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
11580893 2001 Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
11468275 2001 Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.
10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.
10866677 2000 Modulation of CRX transactivation activity by phosducin isoforms.
10708567 2000 p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor.
10625658 2000 Both PCE-1/RX and OTX/CRX interactions are necessary for photoreceptor-specific gene expression.
10192380 1999 A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
9931337 1999 Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.
9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
9537410 1998 De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.
9427255 1997 Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
9390563 1997 Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8162077 1994 Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion.