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Pax6: more than meets the eye

Trends in Genetics, 1995
The paired-box motif, originally defined in Drosophila segmentation genes is conserved in the Pax family of vertebrate developmental genes. Mutations that reduce Pax6 dosage cause dominantly inherited eye malformations in man and mouse. Remarkably, it has now been found that Drosophila has a homologue of Pax6, which also plays a key role in eye ...
I, Hanson, V, Van Heyningen
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Role of Pax6 in forebrain regionalization

Brain Research Bulletin, 2005
Pax6 is a highly conserved transcription factor essential for the development of the eyes in vertebrate and invertebrate species. It is also required for normal development of many regions of the central nervous system, including the mammalian forebrain, hindbrain and spinal cord.
Martine, Manuel, David J, Price
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Familial Peripheral Keratopathy Without PAX6 Mutation

Cornea, 2012
To describe the clinical features of a familial abnormality of the corneal stem cells and to investigate the role of PAX6 mutations in the affected family members.A family with multiple generations of peripheral keratopathy was evaluated. Because of the corneal phenotypic similarity to aniridia-related keratopathy, it was hypothesized that the affected
Wendy M, Smith   +4 more
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Pax6; A pleiotropic player in development

BioEssays, 2002
AbstractPax6 is a transcription factor essential for the development of tissues including the eyes, central nervous system and endocrine glands of vertebrates and invertebrates. It regulates the expression of a broad range of molecules, including transcription factors, cell adhesion and short‐range cell–cell signalling molecules, hormones and ...
T Ian, Simpson, David J, Price
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PAX6 Alternative Splicing and Corneal Development

Stem Cells and Development, 2018
Paired box protein 6 (PAX6) is a master regulator of the eye development. Over the last past two decades, our understanding of eye development, especially the molecular function of PAX6, has focused on transcriptional control of the Pax6 expression. However, other regulatory mechanisms for gene expression, including alternative splicing (AS), have been
Jung Woo, Park, Juan, Yang, Ren-He, Xu
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PAX6 Gene Characteristic and Causative Role of PAX6 Mutations in Inherited Eye Pathologies

Russian Journal of Genetics, 2018
The PAX6 gene encodes one of the key embryonic transcription factors and serves as a master regulator of eye and central nervous system morphogenesis in all species of bilaterian animals. The PAX6 protein contains two DNA binding domains: paired and homeobox.
T. A. Vasilyeva   +4 more
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PAX6: 25th anniversary and more to learn

Experimental Eye Research, 2017
The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams pursuing identification of human and mouse eye disease causing genes, cloning vertebrate homologues of pattern-forming regulatory genes identified in Drosophila, or abundant eye-specific transcripts.
Ales, Cvekl, Patrick, Callaerts
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PAX6 suppresses growth of human glioblastoma cells

Journal of Neuro-Oncology, 2005
Glioblastomas (GBMs) are the most common primary malignant brain tumors. Majority of GBMs has loss of heterozygosity of chromosome 10. The PAX6 encodes a transcription factor that involves in development of the brain, where its expression persists. We have reported that the expression of PAX6 was significantly reduced in GBMs and that a low level of ...
Yi-Hong, Zhou   +10 more
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The role of Pax6 in forebrain development

Developmental Neurobiology, 2011
AbstractPax6 encodes a highly conserved transcriptional regulator with two DNA‐binding motifs, a paired domain and a paired‐like homeodomain. Humans carrying PAX6 loss‐of‐function mutations suffer from abnormal development of the eyes (congenital aniridia) and brain. Small eye mice carrying Pax6 loss‐of‐function mutations provide a good model for these
Petrina A, Georgala   +2 more
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Pax6 induces ectopic eyes in a vertebrate

Development, 1999
ABSTRACT We report here that misexpression of the transcription factor Pax6 in the vertebrate Xenopus laevis leads to the formation of differentiated ectopic eyes. Multiple molecular markers indicated the presence of mature lens fiber cells, ganglion cells, Müller cells, photoreceptors and retinal pigment epithelial cells in a spatial ...
R L, Chow   +3 more
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