Haploinsufficiency of the transcription factor Pax6/PAX6 has been implicated in a number of congenital eye disorders in humans and mice, such as aniridia and Small-eye, which affect the development and function of the lens, cornea, anterior eye segment and neuroretina. However, the widespread distribution of Pax6/PAX6 protein within the developing and adult eye preclude the identification and d...

BACKGROUND Pax6, a highly conserved multifunctional transcription factor, has been critical for neurogenesis and neuronal plasticity. It is presumed that if level of Pax6 approaches either low or null, critical genes responsible for maintaining functional status of neurons or glia would be modulated. PURPOSE Therefore, it has been intended to explore possibility of either direct or indirect i...

Homeoprotein transcription factors play fundamental roles in development, ranging from embryonic polarity to cell differentiation and migration. Research in recent years has underscored the physiological importance of homeoprotein intercellular transfer in eye field development, axon guidance and retino-tectal patterning, and visual cortex plasticity. Here, we have used the embryonic chick neur...

Pax6 is a transcription factor important for early embryo development. It is expressed in several cancer cell lines and tumors. In glioblastoma, PAX6 has been shown to function as a tumor suppressor. Dickkopf 3 (Dkk3) is well established as a tumor suppressor in several tumor types, but not much is known about the regulation of its expression. We have previously found that Pax6 and Pax6(5a) inc...

Transcriptional factors and signaling molecules are responsible for regionalization of the central nervous system. In the early stage of neural development, Pax6 is expressed in the prosencephalon, while En1 and Pax2 are expressed in the mesencephalon. Here, we misexpressed Pax6 in the mesencephalon to elucidate the mechanism of the di-mesencephalic boundary formation. Histological analysis, ex...

The transcription factor PAX6 has been implicated in forebrain patterning, cerebral cortical arealization and in development of thalamocortical connections. Using a Pax6/lacZ knockout mouse, in which the endogenous Pax6 expression is reflected by beta-galactosidase activity, we have studied the consequences of the loss of Pax6 function on thalamocortical (TCA) and corticofugal axon (CFA) pathfi...

PURPOSE Mutations in the paired box 6 (PAX6)gene cause a wide variety of eye anomalies, including aniridia. PAX6 mutations are not well described in the Chinese population so this study is aimed at exploring the role of PAX6 mutations in Taiwanese patients with congenital eye anomalies. METHODS Seventeen patients with single or multiple congenital eye anomalies were enrolled. Genomic DNA was ...

In the embryonic telencephalon, Pax6 is expressed in the progenitors of the pallium in a caudal to rostral gradient and governs the anteroposterior and dorsoventral patterning of the telencephalon. The pallial–subpallial boundary (PSPB) is both a physical and gene expression boundary separating dorsal and ventral telencephalon. Previous studies have indicated that Pax6 is required for establish...

The PAX6, a transcription factor, is essential for the morphogenesis of the eyes, brain, pituitary and pancreatic islets. In rodents, the loss of Pax6 function leads to central nervous system defects, anophthalmia, and nasal hypoplasia. The haplo-insufficiency of Pax6 causes microphthalmia, aggression and other behavioral abnormalities. It is also required in brain patterning and neuronal plast...

In the embryonic telencephalon, Pax6 is expressed in the progenitors of the pallium in a caudal to rostral gradient and governs the anteroposterior and dorsoventral patterning of the telencephalon. The pallial–subpallial boundary (PSPB) is both a physical and gene expression boundary separating dorsal and ventral telencephalon. Previous studies have indicated that Pax6 is required for establish...