Differential role of Pax6 and its interaction with Shh–Gli1–IDH2 axis in regulation of glioma growth and chemoresistance
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Biochemical and Molecular Toxicology"
DOI: 10.1002/jbt.23241
Abstract: Glioma is a major brain tumor, and the associated mortality rate is very high. Contemporary therapies provide a chance of survival for 9–12 months. Therefore, a novel approach is essential to improve the survival rate.… read more here.
Keywords: shh gli1; gli1; gli1 idh2; pax6 ... See more keywords
Effects of high-molecular-weight polyvinyl chloride on Xenopus laevis adults and embryos: the mRNA expression profiles of Myf5, Esr1, Bmp4, Pax6, and Hsp70 genes during early embryonic development
Sign Up to like & getrecommendations! Published in 2021 at "Environmental Science and Pollution Research"
DOI: 10.1007/s11356-021-16527-1
Abstract: Microplastics and associated adverse effects have been on the global agenda in recent years. Because of its importance as a model organism for studies on developmental biology, Xenopus laevis has been chosen as the study… read more here.
Keywords: effects high; xenopus laevis; pax6; hmw pvc ... See more keywords
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103940
Abstract: Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large cohort of 434 probands referred… read more here.
Keywords: homeobox domains; pax6; cohort; novel variants ... See more keywords
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
Sign Up to like & getrecommendations! Published in 2017 at "Gene"
DOI: 10.1016/j.gene.2017.07.073
Abstract: Aniridia is a rare, congenital ocular disorder caused by the mutations of the paired box gene-6 (PAX6) (OMIM 607108), which encodes a highly conserved transcriptional regulator. In order to investigate the clinical characterizations and genetic… read more here.
Keywords: pax6; two chinese; novel pax6; experimental assessment ... See more keywords
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0288-y
Abstract: Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing regulation, it is not always possible to accurately predict the effect of… read more here.
Keywords: functional reassessment; pax6 single; pax6; reassessment pax6 ... See more keywords
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-00737-1
Abstract: PAX6 is considered the master regulator of eye development, the majority of variants affecting this gene cause the pan-ocular developmental eye disorder aniridia. Although no genotype-phenotype correlations are clearly established, missense variants affecting the DNA-binding… read more here.
Keywords: pax6; mosaicism; evidence; isolated foveal ... See more keywords
Pax6 modulates intra-retinal axon guidance and fasciculation of retinal ganglion cells during retinogenesis
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-72828-4
Abstract: Intra-retinal axon guidance involves a coordinated expression of transcription factors, axon guidance genes, and secretory molecules within the retina. Pax6, the master regulator gene, has a spatio-temporal expression typically restricted till neurogenesis and fate-specification. However,… read more here.
Keywords: pax6; intra retinal; axon guidance; guidance ... See more keywords
Paired Box Gene 6 Regulates Heme Oxygenase-1 Expression and Mitigates Hydrogen Peroxide-Induced Oxidative Stress in Lens Epithelial Cells
Sign Up to like & getrecommendations! Published in 2022 at "Current Eye Research"
DOI: 10.1080/02713683.2022.2110266
Abstract: Abstract Purpose This study aimed to investigate the regulation of heme oxygenase-1 (HO-1) by paired box gene 6 (Pax6) and their roles in hydrogen peroxide (H2O2)-induced oxidative stress and apoptosis in lens epithelial cells (LECs)… read more here.
Keywords: oxidative stress; expression; pax6; induced oxidative ... See more keywords
Derivation of Haploid Neural Stem Cell Lines by Selection for a Pax6-GFP Reporter.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cells and development"
DOI: 10.1089/scd.2017.0193
Abstract: Haploid cells facilitate genetic screening of recessive mutations for a single set of chromosomes. Haploid embryonic stem cells (haESCs) have been achieved in several species and widely utilized in genetic screens. The fact that haESCs… read more here.
Keywords: reporter; pax6; haploid neural; gfp ... See more keywords
PAUPAR and PAX6 sequentially regulate human embryonic stem cell cortical differentiation
Sign Up to like & getrecommendations! Published in 2021 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkab030
Abstract: Abstract Long noncoding RNAs (lncRNAs) play a wide range of roles in the epigenetic regulation of crucial biological processes, but the functions of lncRNAs in cortical development are poorly understood. Using human embryonic stem cell… read more here.
Keywords: cortical differentiation; pax6; stem cell; differentiation ... See more keywords
A novel variant in PAX6 as the cause of aniridia in a Chinese family
Sign Up to like & getrecommendations! Published in 2021 at "BMC Ophthalmology"
DOI: 10.1186/s12886-021-01848-z
Abstract: Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.… read more here.
Keywords: cause aniridia; pax6; pax6 cause; family ... See more keywords