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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 (show SHH Proteins)-dependent E-ligase Midline1 (show MID1 Proteins) 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 (show PAX7 Proteins) is widely maintained in the adult brain of Xenopus
PAX6 was upregulated in Colorectal cancer tissues and was negatively correlated with miR383 expression.
PAX6 knockdown recapitulated effects similar to those observed following miR (show MLXIP Proteins)-655 overexpression regarding the proliferation, invasion and apoptosis of retinoblastoma (RB)cells. Rescue experiments demonstrated that restoration of PAX6 expression reversed the tumour-suppressing roles of miR (show MLXIP Proteins)-655 in RB cells
excessive PAX6 expression in insulin (show INS Proteins)-challenged endometrial epithelial cells may contribute to the uncontrollable endometrial epithelial proliferation in polycystic ovarian syndrome
overexpression of CHD1L (show CHD1L Proteins) in embryonic cells upregulated the expression of ectoderm genes, especially PAX6
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 (show MLXIP Proteins)-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 (show MLXIP Proteins)-223/PAX6 pathway in glioma and this pathway might modulate the sensitivity of glioma to TMZ via regulating PI3K (show PIK3CA Proteins)/Akt (show AKT1 Proteins) 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.
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.
a novel regulatory relationship between the retinal pigmented epithelium (RPE (show RPE Proteins)) transcription factors Pax6 and Sox9 (show SOX9 Proteins) that controls the timing of RPE (show RPE Proteins) differentiation and the adjacent choroid maturation, is reported.
PAX6 can substitute for LHX2 (show LHX2 Proteins) and override NFIA (show NFIA Proteins)-induced astrogliogenesis in developing hippocampus in vivo.
these results not only reveal a novel function for LHX2 (show LHX2 Proteins) in regulating dorsoventral patterning in the telencephalon, but also identify PAX6 as a fundamental regulator of where the hem can form, and therefore implicate this molecule as a determinant of hippocampal positioning.
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 (show NOTCH1 Proteins) signaling. Pax6-dependent enhancer activity of Dbx1 (show DBX1 Proteins) is extensively conserved between mammals and chick.
These results demonstrate a novel role for Tlx3 (show TLX3 Proteins) and indicate that Pax6-Tlx3 (show TLX3 Proteins) 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 (show GUSB Proteins)).
Pax6 (and IBA1 (show AIF1 Proteins)) co-localize in the brain and also interact physically.
Pax6 normally represses Cdca7 (show CDCA7 Proteins) expression in the lateral cortex and that repression of Cdca7 (show CDCA7 Proteins) in cells of this region is required for their production of a normal complement of Tbr2 (show EOMES Proteins)-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.
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 (show SHH Proteins) in the mid-diencephalic organizer in vertebrates.
loss of Pax6b or Hb9 (show MNX1 Proteins) independently results in the loss of insulin (show INS Proteins) 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]