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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 ELISA Kits) is widely maintained in the adult brain of Xenopus
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 ELISA Kits)-223/PAX6 pathway in glioma and this pathway might modulate the sensitivity of glioma to TMZ via regulating PI3K (show PIK3CA ELISA Kits)/Akt (show AKT1 ELISA Kits) 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 (show SOX2 ELISA Kits)/Pax6 bound site near the Sprouty2 (show SPRY2 ELISA Kits) locus was verified to promote cooperative dimerization designating Sprouty2 (show SPRY2 ELISA Kits) as a potential target reliant on Sox2 (show SOX2 ELISA Kits)/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.
variant aniridia, congenital iris ectropion associated with foveal hypoplasia in both a woman and her son with a mutation of PAX6 gene. To our knowledge, deletion c. 936delC in exon 8 of PAX6 gene has not been reported until now.
epigenetic factor CTCF (show CTCF ELISA Kits)-mediated chromatin remodeling regulates interactions between eye-specific PAX6 and those genes that are induced/associated with cell differentiation to modulate corneal epithelial cell-specific differentiation
PAX6-depleted CECs maintained the epithelial morphology, but became larger. Global analyses using microarray revealed that down-regulated genes were primarily CEC-specific
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.
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 (show PDLIM1 ELISA Kits) complex is necessary for the establishment of an inner retinal circuitry, which controls visual adaptation.
The expression of Barhl2 (show BARHL2 ELISA Kits) 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 (show BARHL2 ELISA Kits) expression in the thalamus and pretectum.
The present study shows how Pax6 is key to the development of glutamatergic cells in the cerebellum
These data suggest that Pax6 and Sox2 (show SOX2 ELISA Kits) have counteracting roles in regulating neurogenesis.
paternal aging has profound effects on the onset of behavioral abnormalities in mice carrying a mutation of Pax6, a gene with neurodevelopmental regulatory functions.
HDAC1 (show HDAC1 ELISA Kits) binds PAX6 and protein-protein interaction leads to transcriptional repression of PAX6 target genes during mouse retinal development
These results indicate that Pax6 is required for the functional identity of adult beta cells.
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 ELISA Kits) in the mid-diencephalic organizer in vertebrates.
loss of Pax6b or Hb9 (show MNX1 ELISA Kits) independently results in the loss of insulin (show INS ELISA Kits) 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]