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Human PAX6 Protein expressed in Wheat germ - ABIN1314075
Maucksch, Firmin, Butler-Munro, Montgomery, Dottori, Connor: Non-Viral Generation of Neural Precursor-like Cells from Adult Human Fibroblasts. in Journal of stem cells & regenerative medicine 2014
SHH (显示 SHH 蛋白)-dependent E-ligase Midline1 (显示 MID1 蛋白) regulates ubiquitin-mediated proteasomal degradation of Pax6 during visual system development.
signaling via Pax6 expression through Shp2-binding sites of XFrs3 is necessary for the eye development in Xenopus laevis
Our results show that the expression of Pax6 and Pax7 (显示 PAX7 蛋白) is widely maintained in the adult brain of Xenopus
PAX6 mutations explained 96.7% of aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene.
Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7.
it was suggested that miR (显示 MLXIP 蛋白)-19, upregulated in osteosarcoma cells, negatively regulated the expression of Pax6, which can promote the malignant phenotypes of osteosarcoma cells via activation of the extracellular signal-regulated kinase signaling pathways
Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region.
findings shed new light on the miR (显示 MLXIP 蛋白)-223/PAX6 pathway in glioma and this pathway might modulate the sensitivity of glioma to TMZ via regulating PI3K (显示 PIK3CA 蛋白)/Akt (显示 AKT1 蛋白) signaling pathway.
Our study identified two novel PAX6 variants in two families with aniridia and revealed the pathogenicity of the variants; this would expand the variant spectrum of PAX6 and help us better understand the molecular basis of aniridia, thus facilitating genetic counseling.
highly conserved Sox2 (显示 SOX2 蛋白)/Pax6 bound site near the Sprouty2 (显示 SPRY2 蛋白) locus was verified to promote cooperative dimerization designating Sprouty2 (显示 SPRY2 蛋白) as a potential target reliant on Sox2 (显示 SOX2 蛋白)/Pax6 cooperativity in several neural cell types.
It is important to establish the molecular diagnosis early to avoid repeated and long-term screening for Wilms tumor. Our work further emphasizes that a wide range of ocular phenotypes are associated with loss of function PAX6 mutations.
A novel mutation (c.1033-1_1033delinsCT) and a reported mutation (c.1183 + 1G > A) within PAX6 gene were identified in two families with aniridia. The PAX6 mutations caused aberrant patterns of RNA splicing.
reduced expression of PAX6 in metabolically stressed beta cells may contribute to beta cell failure and alpha cell dysfunction in diabetes.
Some polymorphisms in PAX6 are associated with growth traits at some ages, and may be used as candidates for marker-assisted selection in beef cattle breeding program.
Comparative functional analyses revealed that the neurogenic function of Pax6 is highly conserved in the developing mouse and chick pallium, whereas stage-specific binary functions of Pax6 in neurogenesis are unique to mouse neuronal progenitors, consistent with Pax6-dependent temporal regulation of Notch (显示 NOTCH1 蛋白) signaling. Pax6-dependent enhancer activity of Dbx1 (显示 DBX1 蛋白) is extensively conserved between mammals and chick.
These results demonstrate a novel role for Tlx3 (显示 TLX3 蛋白) and indicate that Pax6-Tlx3 (显示 TLX3 蛋白) expression and interaction is part of a region specific regulatory network in cerebellum and its deregulation during development could possibly lead to Autistic spectral disorders (ASD (显示 GUSB 蛋白)).
Pax6 (and IBA1 (显示 AIF1 蛋白)) co-localize in the brain and also interact physically.
Pax6 normally represses Cdca7 (显示 CDCA7 蛋白) expression in the lateral cortex and that repression of Cdca7 (显示 CDCA7 蛋白) in cells of this region is required for their production of a normal complement of Tbr2 (显示 EOMES 蛋白)-expressing intermediate progenitors
this Pax6 (fl) allele provides a useful addition to the existing Pax6 allelic series and this study demonstrates the utility of using compound heterozygotes with null alleles to unmask cryptic effects of floxed alleles.
Data show that Pax6 acts in RPCs to control differentiation of multiple late-born neuronal cell types.
Together, the authors show the antagonistic regulation of the alpha-enhancer activity by Pax6 and the LIM protein (显示 PDLIM1 蛋白) complex is necessary for the establishment of an inner retinal circuitry, which controls visual adaptation.
The expression of Barhl2 (显示 BARHL2 蛋白) in the thalamus and pretectum is related to, and regulated by, the expression of Pax6. Pax6 is known to be required for normal diencephalic development. The findings suggest that some of its actions might be mediated by its maintenance of a repressive influence over Barhl2 (显示 BARHL2 蛋白) expression in the thalamus and pretectum.
The present study shows how Pax6 is key to the development of glutamatergic cells in the cerebellum
Study finds that Pax6 is initially distributed contiguously throughout a large domain of the anterior neural plate of zebrafish, including the presumptive eye fields and the dorsal diencephalon. After evagination of the optic vesicle, Pax6 becomes restricted to all proliferating cells of the pigment epithelial and neural layers of the retina.
Pax6 has an evolutionarily conserved function in establishing the temporospatial expression of Shh (显示 SHH 蛋白) in the mid-diencephalic organizer in vertebrates.
loss of Pax6b or Hb9 (显示 MNX1 蛋白) independently results in the loss of insulin (显示 INS 蛋白) expression, the data reveal a novel cross-talk between the two essential regulators of early beta-cell differentiation.
The results suggest that decreased Pax6 expression is permissive for axon regeneration and extensive searching, while higher levels of Pax6 are associated with restoration of topography.
This study supports the hypothesis that the Pax6 transcription factor is also a signaling molecule with direct non-cell autonomous activity.
following a postulated whole-genome duplication event in an ancestral teleost, duplicates pax6a and pax6b encode transcription factors required for eye, brain, olfactory system, and pancreas development
Pax6 interacts with itself via both the paired domain and the homeodomain. Pax6 interaction with itself superactivates Pax6 mediated transactivation.
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
paired box protein Pax-6
, paired box 6
, paired box gene 6
, paired box homeotic gene 6
, paired box gene 6 a
, aniridia type II protein
, paired box homeotic gene-6
, paired box gene 6 (aniridia, keratitis)
, paired box protein PAX6
, paired box gene 6 b
, paired domain transcription factor variant B
, paired-type homeodomain Pax-6 protein
, Dickie's small eye
, small eye
, paired box protein Pax[Zf-a]