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This study show that the undifferentiated CNS expresses Crb1, Crb2a, and Crb2b in distinct spatial and temporal patterns.
Data suggest that the Crb (show MYBL2 Proteins)/Moe (show EPB41L5 Proteins) complex and Notch (show NOTCH1 Proteins) play roles in a positive feedback loop to maintain the apicobasal polarity in neuroepithelial cells.
Retinal capillaritis, vitritis, and cystoid macular edema could be inflammatory features of CRB1 retinal dystrophy (show MERTK Proteins) in our young patient.
In summary, mutations in CRB1 need to be considered as a potential cause of isolated maculopathy, particularly in cases where the central macular atrophy is associated with paracentral macular thickening and loss of normal lamination on OCT (show Plxna2 Proteins).
The traditional village therapy may have compromised retinal venous outflow and/or provoked a Valsalva phenomenon, leading to the bilateral retinal hemorrhages. The fact that this occurred bilaterally and in both sisters supports the concept of relative vessel wall incompetence as part of CRB1-related retinopathy.
Mutations in the CRB1 gene are associated with a spectrum of progressive retinal degeneration. Visual acuity survival analyses indicate that the optimal intervention window for subretinal gene therapy is within the first 2 to 3 decades of life.
This is the first report to implicate CRB1 as the underlying cause of FFR (show VPS51 Proteins). This phenotype forms the mildest end of the spectrum of CRB1-related diseases.
The first study reporting on the molecular genetic cause of non-syndromic early-onset severe retinal dystrophy (show MERTK Proteins) in Czech patients identified one homozygous and two compound heterozygote probands with CRB1 mutations.
We present the case of a child who presented during screening for uveitis associated with juvenile idiopathic arthritis with macular oedema and was found to have early onset retinal dystrophy (show MERTK Proteins) and mutations in CRB1.
Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
Comprehensive retinal dystrophy (show MERTK Proteins) panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins.
a new function of RNF146 (show RNF146 Proteins) and tankyrase in stabilizing the Crumbs complex through downregulation of AMOT (show AMOT Proteins) proteins at the apical membrane, is reported.
This study showed that The geographic distribution of subretinal microglia/macrophages changes with age in both Crb1 rd8/rd8 and C57BL mice, but the total number of microglia only increases in Crb1 rd8/rd8 mice,and pro-inflamatory phenotype.
The retinal phenotype of Grk1 (show GRK1 Proteins)-/- mice is compromised by a Crb1 rd8 mutation.
Presence of rd8 (Crb1) mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model carrying the Ctrp5 (show C1QTNF5 Proteins) mutation.
Study showed that CRB1 and CRB2 (show CRB2 Proteins) in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 (show CRB2 Proteins) influences the severity of the murine Crb1-linked retinal dystrophies.
These findings suggest that CRB1 and CRB2 (show CRB2 Proteins) suppress late progenitor pool expansion by regulating multiple proliferative signaling pathways.
The C57BL/6NJ-Crb1(rd8) mutation and its associated retinal phenotypes were corrected efficiently by TALEN-mediated homology-directed repair.
This study demonistrated that the Rd8 mutation in the Crb1 gene of CD11c (show ITGAX Proteins)-eYFP transgenic reporter mice results in abnormal numbers of CD11c (show ITGAX Proteins)-positive cells in the retina.
Data show the deletion of Pals1 (show MPP5 Proteins) leads to the disruption of the apical localization of Crb polarity complex proteins Crb1, Crb2 (show CRB2 Proteins) and Crb3 (show CRB3 Proteins) in retinal progenitors and the adult retina.
CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages.
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.
crumbs homolog 1 (Drosophila)
, crumbs homolog 1
, crumbs-like 1
, crumbs homolog 1-like
, protein crumbs homolog 1