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The protein encoded by CRX is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. Zusätzlich bieten wir Ihnen Cone-Rod Homeobox Antikörper (50) und und viele weitere Produktgruppen zu diesem Protein an.
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Human CRX Protein expressed in Wheat germ - ABIN5679752
Santagata, Maire, Idbaih, Geffers, Correll, Holton, Quackenbush, Ligon: CRX is a diagnostic marker of retinal and pineal lineage tumors. in PLoS ONE 2009
CRX can influence the development and opsin (zeige RHO Proteine) expression of photoreceptor outer segments in zebrafish.
The CRX protein can recognize the BAT 1 (zeige DDX39B Proteine) regulatory region contains highly conserved OTX (GATTA) and OTX-like (TATTA) sequences.
No mutation in crx were identified in homozygous mok(m632) or nie(m743). Consistent with the absence of identified mutations, linkage analysis excluded linkage of the mutant phenotypes to crx.
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.
analysis of a homozygous nonsense mutation in SAMD11 (zeige SAMD11 Proteine) in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 (zeige SAMD11 Proteine) interacts with CRX and is expressed in retina
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.
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.
Loss of OTX2 (zeige OTX2 Proteine) expression resulted in decreased expression of C-MYC (zeige MYC Proteine) and CRX, genes previously implicated in retinoblastoma tumorigenesis. Loss of OTX2 (zeige OTX2 Proteine) expression increased the phosphorylation of RB, a potential mechanism of modulating cell proliferation
Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for leber congenital amaurosis.
Con (zeige DISP1 Proteine) rod homeobox protein mRNA is a novel marker for retinoblastoma at extraocular sites.
Two de novo mutations in CRX were found in Chinese patients with Leber congenital amaurosis. The CRX mutation might create a dominantly inherited trait.
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.
CRX could be useful in surgical neuropathology for the differential diagnosis of pineal region tumors, in particular to discriminate pineal tumors from glial tumors
OTR1 (zeige OXTR Proteine), OTX2 (zeige OTX2 Proteine) and CRX act as positive modulators of the BEST1 (zeige BEST1 Proteine) promoter in the retinal pigment epithelium.
CRX is required for chromatin remodeling at only a subset of its binding sites, which undergo retina or neuronal specific activation during photoreceptor differentiation.
proteins involved in phototransduction were not detected in the Crx(-/-) mouse; in this phenotype, however, proteins from spots showing diurnal rhythms were specifically identified as enzymes involved in glucose metabolism, Krebs cycle, and mitochondrial enzymes.
The L253X mouse provides a valuable model for CRX-associated retinopathy. The pathogenicity of CRX frameshift mutations depends on the position of the premature termination codon, which in turn determines the degree of mutant mRNA/protein overproduction.
CRX-associated retinopathies stem from graded changes in photoreceptor gene expression, which could significantly contribute to phenotypic variability.
Rax (zeige RAX Proteine) and Crx cooperatively transactivate Rhodopsin (zeige RHO Proteine) and cone opsin (zeige RHO Proteine) promoters and an optimum Rax (zeige RAX Proteine) expression level to transactivate photoreceptor gene expression exists.
E168d2 and R90W are mechanistically distinct mouse models for CRX-associated disease that will allow the elucidation of molecular mechanisms and testing of novel therapeutic approaches for different forms of CRX-associated disease.
The rhythmic nature of pineal CRX protein may directly modulate the daily profile of Aanat (zeige AANAT Proteine) expression by inducing nighttime expression of this enzyme, facilitating nocturnal melatonin synthesis
We conclude that nucleotide changes in evolutionary conserved crx binding site could impact retina-specific expression levels of Kcnv2 (zeige KCNV2 Proteine).
In Crx-knockout mice vasopressin (zeige AVP Proteine) mRNA expression in the suprachiasmatic nucleus shows significant daily rhythm.
Data have identified a novel retinal SAM (zeige TTN Proteine) domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression.
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.
, homeobox protein otx5
, orthodenticle homolog 5
, cone-rod homeobox protein
, orthodenticle homeobox 3
, crx gene for cone-rod homeobox protein
, photoreceptor-specific cone-rod homeobox protein
, cone-rod homeobox containing