Use your antibodies-online credentials, if available.
Keine Produkte auf Ihrer Vergleichsliste.
Ihr Warenkorb ist leer.
Weitere Synonyme anzeigen
Wählen Sie die gewünschte Spezies
This study show that the undifferentiated CNS expresses Crb1, Crb2a, and Crb2b in distinct spatial and temporal patterns.
Data suggest that the Crb (zeige MYBL2 Proteine)/Moe (zeige EPB41L5 Proteine) complex and Notch (zeige NOTCH1 Proteine) play roles in a positive feedback loop to maintain the apicobasal polarity in neuroepithelial cells.
Several Crb mutant proteins accumulated abnormally in the rhabdomere and affected rhodopsin (zeige RHO Proteine) trafficking, suggesting that abnormal rhodopsin (zeige RHO Proteine) physiology contributes to Crb/CRB1-associated retinal degeneration.
Novel compound heterozygous mutations found in CRB1 were identified in a Chinese pedigree with Autosomal-recessive retinitis pigmentosa using targeted-capture next generation sequencing.
Retinal capillaritis, vitritis, and cystoid macular edema could be inflammatory features of CRB1 retinal dystrophy (zeige MERTK Proteine) 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 (zeige Plxna2 Proteine).
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 (zeige VPS51 Proteine). 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 (zeige MERTK Proteine) 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 (zeige MERTK Proteine) 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.
a new function of RNF146 (zeige RNF146 Proteine) and tankyrase in stabilizing the Crumbs complex through downregulation of AMOT (zeige AMOT Proteine) 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 (zeige GRK1 Proteine)-/- 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 (zeige C1QTNF5 Proteine) mutation.
Study showed that CRB1 and CRB2 (zeige CRB2 Proteine) in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 (zeige CRB2 Proteine) influences the severity of the murine Crb1-linked retinal dystrophies.
These findings suggest that CRB1 and CRB2 (zeige CRB2 Proteine) 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 (zeige ITGAX Proteine)-eYFP transgenic reporter mice results in abnormal numbers of CD11c (zeige ITGAX Proteine)-positive cells in the retina.
Data show the deletion of Pals1 (zeige MPP5 Proteine) leads to the disruption of the apical localization of Crb polarity complex proteins Crb1, Crb2 (zeige CRB2 Proteine) and Crb3 (zeige CRB3 Proteine) 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