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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.
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Novel mutations of PAX6 and male gonadal mosaicism of PAX6 were identified in three Chinese families with congenital aniridia.
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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.
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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.
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SMAD3 promotes the progression of non-small cell lung cancer by upregulating PAX6 expression.
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PAX6 gene (rs662702) CT genotype is associated with myopia.
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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.
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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.
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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.
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Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family have been reported.
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PAX6 variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia.
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High PAX6 expression is associated with retinoblastoma.
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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.
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This study revealed an outstanding mutation pattern in non-coding PAX6 regions confirming that PAX6 remains the major gene for aniridia.
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This is the first report on the mutational spectrum of PAX6 in aniridia patients of Cypriot ancestry.
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Deletions of the 3 ' regulatory regions downstream of paired box protein (PAX6) abrogate its expression leading to aniridia due to PAX6 haploinsufficiency in a 44-year-old mother and her 13-year-old son.
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The results demonstrated that miR874 may serve tumor suppressive roles in pancreatic ductal adenocarcinoma (PDAC) by directly targeting PAX6. Therefore, miR874 may exhibit potential applications for treatment of patients with PDAC.
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PAX6 was upregulated in Colorectal cancer tissues and was negatively correlated with miR383 expression.
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PAX6 knockdown recapitulated effects similar to those observed following miR-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-655 in RB cells
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excessive PAX6 expression in insulin-challenged endometrial epithelial cells may contribute to the uncontrollable endometrial epithelial proliferation in polycystic ovarian syndrome
