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Paired box 6

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 either the same or different isoform have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, Iris, ACID, Sox2
Papers using Pax6 antibodies
Patient-specific induced pluripotent stem-cell models for long-QT syndrome
Wu Qiang, In PLoS ONE, 2009
... treatment with specific growth factors/pharmacological inhibitors, while leaving the other components of the medium unchanged: PAX6-postive neuroectoderm was induced by treating cells for 5 days with 0.5 µM PD0325901 (Axon Medchem), 15 µM SB431542 (Ascent), and 0.5 µM dorsomorphin (DM, Merck) ...
ISL1 and BRN3B co-regulate the differentiation of murine retinal ganglion cells.
Singh Amit, In PLoS ONE, 2007
... The Pax6 α-Cre transgenic mice with a downstream GFP ...
A novel function of DNA repair molecule Nbs1 in terminal differentiation of the lens fibre cells and cataractogenesis
Cvekl Ales et al., In Epigenetics & Chromatin, 2005
... Functional grouping of 178 genes that were commonly deregulated in both Pax6 heterozygous and dnBrg1 transgenic lenses using the Database ...
Mindin/F-spondin family: novel ECM proteins expressed in the zebrafish embryonic axis.
Butler Geraldine, In PLoS ONE, 1996
... The primary Pax6 antibody (Eurogentec, Seraing, Belgium) was diluted ...
Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue
van Heyningen Veronica et al., In Developmental Biology, 1994
... Primers used to assay for the presence of the human PAX6 locus in the transgenic lines are ...
Papers on Pax6
miR-488 acts as a tumor suppressor gene in gastric cancer.
He et al., Xi'an, China. In Tumour Biol, Feb 2016
Furthermore, there was an inverse correlation between PAX6 and miR-488 expression levels in GC tissues.
Glucose-dependent downregulation of glucagon gene expression mediated by selective interactions between ALX3 and PAX6 in mouse alpha cells.
Vallejo et al., Madrid, Spain. In Diabetologia, Feb 2016
Paired box 6 (PAX6) is a key transcription factor that regulates the glucagon promoter by binding to the G1 and G3 elements.
Glyphosate induces neurotoxicity in zebrafish.
Ochs et al., Fairfield, United States. In Environ Toxicol Pharmacol, Feb 2016
Concomitant with structural changes in the developing brain, using in situ hybridization analysis, we detect decreases in genes expressed in the eye, fore and midbrain regions of the brain including pax2, pax6, otx2 and ephA4.
Harvesting clues from genome wide transcriptome analysis for exploring thalidomide mediated anomalies in eye development of chick embryo: Nitric oxide rectifies the thalidomide mediated anomalies by swinging back the system to normal transcriptome pattern.
Chatterjee et al., Chennai, India. In Biochimie, Jan 2016
8% of the significantly modulated genes have been implicated in eye development including Pax6, OTX2, Dkk1 and Shh.
Engineering Human Stem Cell Lines with Inducible Gene Knockout using CRISPR/Cas9.
Zhang et al., Madison, United States. In Cell Stem Cell, Sep 2015
We further developed a strategy to simultaneously insert an activity-controllable recombinase-expressing cassette and remove the drug-resistance gene, thus speeding up the generation of iKO hPSC lines.
Persistence of reduced expression of putative stem cell markers and slow wound healing in cultured diabetic limbal epithelial cells.
Ljubimov et al., Los Angeles, United States. In Mol Vis, 2014
Cultured LECs were fixed in p-formaldehyde or methanol, and the expression of the putative LESC markers ΔNp63α, PAX6, and ABCG2 and keratins K12, K15, and K17 was examined with immunostaining.
The genetic architecture of microphthalmia, anophthalmia and coloboma.
FitzPatrick et al., Edinburgh, United Kingdom. In Eur J Med Genet, 2014
Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent a continuum of structural developmental eye defects.
WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.
Zhang et al., Guangzhou, China. In Nature, 2014
Here we report establishment of an in vitro feeder-cell-free LSC expansion and three-dimensional corneal differentiation protocol in which we found that the transcription factors p63 (tumour protein 63) and PAX6 (paired box protein PAX6) act together to specify LSCs, and WNT7A controls corneal epithelium differentiation through PAX6.
PAX6 gene associated with high myopia: a meta-analysis.
Chen et al., Hong Kong, Hong Kong. In Optom Vis Sci, 2014
PURPOSE: The PAX6 gene is among the most studied genes in high myopia, but reported findings of association studies on PAX6 and high myopia are inconsistent.
Genomics and anterior segment dysgenesis: a review.
Walter et al., Edmonton, Canada. In Clin Experiment Ophthalmol, 2014
Anterior segment dysgenesis refers to a spectrum of disorders affecting structures in the anterior segment of the eye including the iris, cornea and trabecular meshwork.
Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired.
Shimomura et al., Ōsaka, Japan. In Intern Med, 2013
Pax6 is a transcription factor involved in the development of several organs, including the eye, pancreas and pituitary.
[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].
Roche et al., In Bull Acad Natl Med, 2013
Congenital glaucoma, a true hydrocephalus of the eye, is defined by ocular hypertension resulting in buphthalmos in children up to three years old, the elasticity of the eye wall allowing its expansion.
Pax6 is a key component of regulated glucagon secretion.
Philippe et al., Genève, Switzerland. In Endocrinology, 2012
Results indicate that Pax6 acts on the regulation of glucagon secretion at least through the transcriptional control of GCK, GPR40, and GIPR.
Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese.
Fu et al., Harbin, China. In Ophthalmic Genet, 2012
Our results confirm that the PAX6, Lumican, and MYOC genes were not associated with high myopia in the Han Chinese in Northeastern China.
Transcriptional activity of paired homeobox Pax6 is enhanced by histone acetyltransferase Tip60 during mouse retina development.
Choi et al., Seoul, South Korea. In Biochem Biophys Res Commun, 2012
these results suggest that Tip60 binds with Pax6 and that this physical interaction leads to the full-transcriptional activation of Pax6 during retina development.
A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development.
Arnheiter et al., Bethesda, United States. In Plos Genet, 2012
in the retinal pigment epithelium(RPE) , PAX6 cooperates with either one (or both) of two related RPE transcription factors, MITF and TFEC, to suppress extracellular signals that in the normal retina induce a signaling cascade promoting retina formation.
Meta-analysis identifies common variants associated with body mass index in east Asians.
Shu et al., Nashville, United States. In Nat Genet, 2012
Three additional loci nearly reached the genome-wide significance threshold, including two previously identified loci in the GNPDA2 and TFAP2B genes and a newly identified signal near PAX6, all of which were associated with BMI with P < 5.0 × 10(-7).
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.
Hu et al., Harbin, China. In Mol Vis, 2011
A nonsense mutation in PAX6 exon 9 (c.718C>T) was identified in the Northeastern Chinese patients with sporadic aniridia.
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling.
Studer et al., New York City, United States. In Nat Biotechnol, 2009
Temporal fate analysis reveals the appearance of a transient FGF5(+) epiblast-like stage followed by PAX6(+) neural cells competent to form rosettes.
The genetics of early telencephalon patterning: some assembly required.
Fishell et al., New York City, United States. In Nat Rev Neurosci, 2008
Moreover, we discuss how these regions can be traced back in development to the function of a few key genes, including those that encode fibroblast growth factors (FGFs), sonic hedgehog (SHH), bone morphogenetic proteins (BMPs), forkhead box G1 (FOXG1), paired box 6 (PAX6) and LIM homeobox protein 2 (LHX2), that pattern the early telencephalon.
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