The transcription factor Pax6 has been implicated in neocortical neurogenesis in vertebrates, including humans. Analyses of the role of Pax6 in layer formation and cognitive abilities have been hampered by perinatal lethality of Pax6 mutants. Here, we generated viable mutants exhibiting timed, restricted inactivation of Pax6 during early and late cortical neurogenesis using Emx1-Cre and hGFAP-C...

and differentiation into lens fiber cells as well as for cell survival. Surprisingly, Pax6 loss did not appear to affect the expression of crystallin genes at later developmental stages. We show that Pax6 regulates the Wnt antagonist Sfrp2 in the lens, and that Sox2 expression is upregulated in the Pax6-deficient lenses. Our finding revealed that the failed differentiation following loss of Pax...

and differentiation into lens fiber cells as well as for cell survival. Surprisingly, Pax6 loss did not appear to affect the expression of crystallin genes at later developmental stages. We show that Pax6 regulates the Wnt antagonist Sfrp2 in the lens, and that Sox2 expression is upregulated in the Pax6-deficient lenses. Our finding revealed that the failed differentiation following loss of Pax...

In the mouse Pax6 function is critical in a dose-dependent manner for proper eye development. Pax6 contiguous gene deletions were previously shown to be homozygous lethal at an early embryonic stage. Heterozygotes express belly spotting and extreme microphthalmia. The eye phenotype is more severe than in heterozygous Pax6 intragenic null mutants, raising the possibility that deletions are funct...

PURPOSE To identify a disease-causing paired box 6 (PAX6) gene mutation in a Chinese family affected by autosomal dominant congenital aniridia. METHODS All participants in the study, including the aniridia family and 100 unrelated senile cataract controls, received a comprehensive ophthalmic examination. Genomic DNA was extracted from their whole blood. Mutation screen in all exons and their ...

Pax6 is required for one of two distinct neurogenic lineages in the cerebral cortex38 Pax6 is a potent neurogenic gene and regulates bHLH transcription factors .. Summary The cells of the mammalian central nervous system (CNS) arise from multipotential precursor cells. The mechanisms that drive precursor cells toward a distinct cell fate are not well understood. Since transcription factors are ...

Pax6 is a paired box containing transcription factor that resides at the top of a genetic hierarchy controlling eye development. It continues to be expressed in tissues of the adult eye, but its role in this capacity is unclear. Pax6 is present in the adult corneal epithelium, and we showed that the amount of Pax6 is increased at the migrating front as the epithelium resurfaces the cornea after...

glaucoma remains one of the major causes of blindness in today's world. the progressive field of stem cell proposes an exciting potential for discovering novel therapies. here, we report the development of an easy and high throughput method for differentiation of retinal ganglion cells (rgc) and bipolar cells from human adipose tissue-derived mesenchymal stem cells (hadscs) using pax6 (+5a) gen...

Glioblastoma multiforme (GBM) is the most invasive brain tumor. We have previously reported that the transcription factor PAX6 suppresses the tumorigenecity of GBM cells. By an in vitro Matrigel invasion assay on two GBM cell lines stably transfected with wild-type and/or two mutant forms of PAX6, this study displays the first evidence that PAX6 inhibits the invasiveness of GBM cells and that t...

PURPOSE The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the eye's iris. Aniridia may be broadly divided into hereditary and sporadic forms. The function of the PAX6 gene in these two forms of aniridia is still poorly defined. Therefore, we carried out a ...