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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-dependent E-ligase Midline1 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 is widely maintained in the adult brain of Xenopus
Dominant cosegregation of diabetes and aniridia with a deletion distal to PAX6, which is clinically distinct from the mild glucose intolerance previously reported with PAX6 coding mutations. Asymptomatic aniridia individuals appear at risk of diabetes (and its complications) and could benefit from earlier diagnosis and treatment.
Heterozygous pathogenic variants in the PITX2 and FOXC1 genes accounted for 66% (6/9) of the ARS/ASD cases. The absence of PAX6 or CYP1B1 abnormalities could reflect our small sample size, although their analysis could be justified in ARS/ASD patients that present with congenital glaucoma or aniridia.
A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia.
To determine the ability of these elements to regulate gene expression, synthetic transcriptional activators and repressors were targeted to PE3 and PE4, modulating Pax6 gene expression, as well as influencing neighbouring genes and long non-coding RNAs, implicating the Pax6 locus in pancreas function and diabetes.
We demonstrate that PAX6 acts as an oncogene responsible for induction of cancer stemness properties in lung adenocarcinoma
PAX6 overexpression increasing MMP2 and MMP9 expression.
The determination of the glycosylation positions on 3D glycoprotein model will facilitate the understanding of glycosylation role on Pax6 protein interactions in transcription and intracellular activities.
Novel mutations of PAX6 and male gonadal mosaicism of PAX6 were identified in three Chinese families with congenital aniridia.
The present results expand the mutation spectrum of PAX6 and will be valuable for genetic counseling in the affected families. Additionally, the identification of these mutations reiterates the importance of PAX6 in ocular development and sheds light on the pathogenesis of congenital aniridia.
A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype.
SMAD3 promotes the progression of non-small cell lung cancer by upregulating PAX6 expression.
PAX6 gene (rs662702) CT genotype is associated with myopia.
The mutational diagnostic rate in this series was 77%, which is comparable with reports from other populations. Importantly, no founder mutations were identified in this case series. Our results add 7 novel PAX6 pathogenic variants to the aniridia-related mutational spectrum and reveal considerable PAX6 allelic heterogeneity in this population.
This study provides additional evidence suggesting that the PAX6 SNP rs644242 is associated with extreme myopia but not lower grade myopia. Thus, PAX6 may be implicated in the development or progression into severe myopia.
we have established that PAX6 influence the cell cycle distribution, and renders U251 cells more sensitive to oxidative stress. Importantly, we discovered differences in the sensitivity to established chemotherapeutic drugs between the PAX6 expressing (WT) cells and the PAX6 KO cells.
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family have been reported.
PAX6 variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia.
High PAX6 expression is associated with retinoblastoma.
Knock-in 2A-EGFP cassette into PAX6 exon of embryonic stem cells H1 with TALEN-based homology recombination could establish PAX6(WT/EGFP) H1 reporter cell line fast and efficiently. This reporter cell line could differentiate into PAX6 and EGFP double positive neural progenitor/stem cells (NPCs/NSCs) after neural induction.
This study revealed an outstanding mutation pattern in non-coding PAX6 regions confirming that PAX6 remains the major gene for aniridia.
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.
that positional information encoded by the levels of Pax6 in diencephalic progenitors is an important determinant of the eventual locations of their daughter cells
Findings indicate regulatory sites that miRNAs may participate in the homeostasis of paired box gene 6 protein (PAX6) levels.
Haploid embryonic stem cells (haESCs) expressed the neural marker paired box transcription factor 6 (Pax6).
Pax6 depletion has no effect on the adult mouse corneal epithelium.
Tgfbeta2, Bmp4 and Foxc1 are direct downstream targets of Pax6 in the developing iris.
a novel regulatory relationship between the retinal pigmented epithelium (RPE) transcription factors Pax6 and Sox9 that controls the timing of RPE differentiation and the adjacent choroid maturation, is reported.
PAX6 can substitute for LHX2 and override NFIA-induced astrogliogenesis in developing hippocampus in vivo.
these results not only reveal a novel function for LHX2 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.
overexpression of CHD1L in embryonic cells upregulated the expression of ectoderm genes, especially PAX6
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 signaling. Pax6-dependent enhancer activity of Dbx1 is extensively conserved between mammals and chick.
These results demonstrate a novel role for Tlx3 and indicate that Pax6-Tlx3 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).
Pax6 (and IBA1) co-localize in the brain and also interact physically.
Pax6 normally represses Cdca7 expression in the lateral cortex and that repression of Cdca7 in cells of this region is required for their production of a normal complement of Tbr2-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 complex is necessary for the establishment of an inner retinal circuitry, which controls visual adaptation.
reduced expression of PAX6 in metabolically stressed beta cells may contribute to beta cell failure and alpha cell dysfunction in diabetes.
The expression of Barhl2 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 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 in the mid-diencephalic organizer in vertebrates.
loss of Pax6b or Hb9 independently results in the loss of insulin expression, the data reveal a novel cross-talk between the two essential regulators of early beta-cell differentiation.
morpholino depletion of zebrafish Pax6.2 resulted in a "small eye" phenotype, supporting a role in retinal development.
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]