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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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Pax6-dependent mechanisms in mammalian corticogenesis

2007
Pax6 is a key transcription factor involved in the organogenesis of the eye, pancreas, and brain. In developing cortex, Pax6 has been implicated to play a role in regionalization, neurogenesis, layer formation, and axonal path finding. The study of whether Pax6 regulates key processes in corticogenesis and brain functioning has been hindered by a ...
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???????????????????? ?????????????????????????????????? ?????????????? Pax6 ?? ???????? ???????????????? ?????????? ?????????? ??????????

2019
?? ?????????????????????????? ?????????????????????????????????????? ???????????????????? ???????????????????????? ???????????????? ???????????????????????????????? ?????????????? Pax6 ?? ???????????????? ???????????? ?????????????????? ?????????? (lobus impar nervi facialis ??? LINF) ?????????? ???????????????? ???????????? ????????????
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Rieger Syndrome and PAX6 Deletion

2007
The anomalies in most of the involved tissues in Rieger syndrome (anterior segment of the eye, cranial bones, teeth, periumbilical skin) are derived from the neural crest. If PAX6 expression in the neuroectoderm includes the neural crest, most of the Rieger-anomalies could be explained by a PAX6 deletion.
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Aniridia and PAX6

Abstract Aniridia, which means total absence of the iris, is used clinically to refer to a spectrum of panocular malformations, the most prominent of which is partial to near-total absence of the iris. This chapter examines the morphology, histopathology, epidemiology, clinical findings, and genetics of the condition. Sequence variations
Robert B. Hufnagel   +2 more
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