Results 151 to 160 of about 21,466 (185)
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Role of Pax6 in forebrain regionalization
Brain Research Bulletin, 2005Pax6 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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Human Molecular Genetics, 1993
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.
I M, Hanson +6 more
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Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions.
I M, Hanson +6 more
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Pax6; A pleiotropic player in development
BioEssays, 2002AbstractPax6 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, 2018Paired 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
Ren-He Xu, Jung Woo Park
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Current Opinion in Ophthalmology, 2017
Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings.Aside from the ocular features, a ...
Hyun Taek, Lim, Dae Hee, Kim, Hyuna, Kim
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Aniridia is a rare and panocular disorder affecting most of the ocular structures which may have significant impact on vision. The purpose of this review is to describe the clinical features, genetics, and therapeutic options for this disease and to provide an update of current knowledge and latest research findings.Aside from the ocular features, a ...
Hyun Taek, Lim, Dae Hee, Kim, Hyuna, Kim
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PAX6: 25th anniversary and more to learn
Experimental Eye Research, 2017The 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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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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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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PAX6 Gene Characteristic and Causative Role of PAX6 Mutations in Inherited Eye Pathologies
Russian Journal of Genetics, 2018The 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 induces ectopic eyes in a vertebrate
Development, 1999ABSTRACT 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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Experimental Eye Research, 2011
The PAX6 has been described a "master regulator of eye development". A specific ratio of PAX6, and its alternatively spliced isoform, PAX6(5a), has also been observed essential for optimal function. Mutations into PAX6 lead to a number of ocular, and neuronal defects of variable penetrance and expressivity but the mechanism is either poorly understood ...
Sachin, Shukla, Rajnikant, Mishra
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The PAX6 has been described a "master regulator of eye development". A specific ratio of PAX6, and its alternatively spliced isoform, PAX6(5a), has also been observed essential for optimal function. Mutations into PAX6 lead to a number of ocular, and neuronal defects of variable penetrance and expressivity but the mechanism is either poorly understood ...
Sachin, Shukla, Rajnikant, Mishra
openaire +2 more sources