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Human Polyclonal CEP290 Primary Antibody for ICC, IF - ABIN257723
Hopp, Heyer, Hommerding, Henke, Sundsbak, Patel, Patel, Consugar, Czarnecki, Gliem, Torres, Rossetti, Harris: B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. in Human molecular genetics 2011
Show all 6 Pubmed References
Human Polyclonal CEP290 Primary Antibody for ELISA, IF - ABIN4297735
Allocca, Doria, Petrillo, Colella, Garcia-Hoyos, Gibbs, Kim, Maguire, Rex, Di Vicino, Cutillo, Sparrow, Williams, Bennett, Auricchio: Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice. in The Journal of clinical investigation 2008
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 (show RPGR Antibodies) and the C-terminal domain of CEP290, our data suggest that RPGR (show RPGR Antibodies) and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Cep290(ko/ko (show KRT8 Antibodies)) 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 (show NRL Antibodies)-/- murine model.
results provide a link between CEP290 and DNA replication stress and suggest CDK (show CDK4 Antibodies) 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 (show SSX2IP Antibodies) 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 (show MKKS Antibodies) affects multiprotein complex integrity at the cilia transition zone & basal body.
Rkip (show PEBP1 Antibodies) prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.
study proposes that Cep290 and Cep72 (show CEP72 Antibodies) in centriolar satellites regulate the ciliary localization of BBS4 (show BBS4 Antibodies), 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 (show IQCB1 Antibodies) physically interacted with NPHP6.
One of the more common molecular subtypes of LCA (show CLTA Antibodies) 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 (show CLTA Antibodies))but potentially many other subtypes of retinal dystrophy (show MERTK Antibodies) caused by splicing mutations
We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (show TMEM67 Antibodies) (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 (show USH2A Antibodies) gene, two duplications in CEP290 gene, and one duplication in RIMS2 (show RIMS2 Antibodies) 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 (show CRB1 Antibodies) gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
NPHP5 (show IQCB1 Antibodies) and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
DDA3 (show PSRC1 Antibodies) 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