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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.
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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.
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A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia.
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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.
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We demonstrate that PAX6 acts as an oncogene responsible for induction of cancer stemness properties in lung adenocarcinoma
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PAX6 overexpression increasing MMP2 and MMP9 expression.
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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.
