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Study describes a mouse model of Leber's Congenital Amaurosis type 10 with in-frame mutation in Cep290 gene. The mutants show a rapid retinal degeneration in the rod-rich mouse retina .
Together with a physical interaction between RPGR (zeige RPGR ELISA Kits) and the C-terminal domain of CEP290, our data suggest that RPGR (zeige RPGR ELISA Kits) and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Cep290(ko/ko (zeige KRT8 ELISA Kits)) mice exhibit early vision loss and die from hydrocephalus.
The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl (zeige NRL ELISA Kits)-/- murine model.
results provide a link between CEP290 and DNA replication stress and suggest CDK (zeige CDK4 ELISA Kits) inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes.
The recognition of the cryptic exon introduced by the c.2991+1655A>G mutation in CEP290 indeed is species-dependent, and seems to correlate to the evolutionary distance to humans.
The novel centriolar satellite protein SSX2IP (zeige SSX2IP ELISA Kits) targets Cep290 to the ciliary transition zone.
Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations.
Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 & MKKS (zeige MKKS ELISA Kits) affects multiprotein complex integrity at the cilia transition zone & basal body.
Rkip (zeige PEBP1 ELISA Kits) prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.
study proposes that Cep290 and Cep72 in centriolar satellites regulate the ciliary localization of BBS4, which in turn affects assembly and recruitment of the BBSome.
the N-terminal region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for Lebers disease patients with mutations in CEP290
The N-terminal domain of NPHP5 (zeige IQCB1 ELISA Kits) physically interacted with NPHP6.
One of the more common molecular subtypes of LCA (zeige CLTA ELISA Kits) is caused by mutation in the gene encoding CEP290 (Centrosomal protein 290), which has been localized in the outer retina to the photoreceptor cilium
our data highlight the tremendous therapeutic prospective of AONs for the treatment of not only CEP290-associated Leber congenital amaurosis (LCA (zeige CLTA ELISA Kits))but potentially many other subtypes of retinal dystrophy (zeige MERTK ELISA Kits) caused by splicing mutations
We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (zeige TMEM67 ELISA Kits) (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations
We identified four novel CNVs in three different genes (one duplication in USH2A (zeige USH2A ELISA Kits) gene, two duplications in CEP290 gene, and one duplication in RIMS2 (zeige RIMS2 ELISA Kits) gene) in total four families, at a detection rate of 8% (4/50).
Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 (zeige CRB1 ELISA Kits) gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
NPHP5 (zeige IQCB1 ELISA Kits) and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
DDA3 (zeige PSRC1 ELISA Kits) controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle.
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.
centrosomal protein 290kDa
, centrosomal protein of 290 kDa
, centrosomal protein of 290 kDa-like
, Bardet-Biedl syndrome 14 protein homolog
, Bardet-Biedl syndrome 14 protein
, CTCL tumor antigen se2-2
, Meckel syndrome, type 4
, POC3 centriolar protein homolog
, cancer/testis antigen 87
, monoclonal antibody 3H11 antigen
, prostate cancer antigen T21
, tumor antigen se2-2