Results 11 to 20 of about 36,753 (224)
BMC Genetics, 2005 Background The PAX6 protein is a highly conserved transcriptional regulator that is important for normal ocular and neural development. In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye ...
Hanson Isabel M +2 more
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Pax6 mutant cerebral organoids partially recapitulate phenotypes of Pax6 mutant mouse strains [PDF]
PLOS ONE, 2022 Cerebral organoids show great promise as tools to unravel the complex mechanisms by which the mammalian brain develops during embryogenesis. We generated mouse cerebral organoids harbouring constitutive or conditional mutations in Pax6 , which encodes a transcription factor with multiple ...
Nurfarhana Ferdaos +2 more
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PAX6 in sensory development [PDF]
Human Molecular Genetics, 2002 PAX6 function was first identified through aniridia-associated null mutations. Since then, this transcription factor, with a paired domain and a homeodomain, has become a paradigm, illustrating functional conservation in developmental pathways. The Small eye mouse and Drosophila eyeless have served as major model systems in defining the multistage ...
Veronica, van Heyningen +1 more
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Functional Properties of Natural Human PAX6 and PAX6(5a) Mutants [PDF]
Investigative Ophthalmology & Visual Science, 2004 Pax6 is essential for development of the eye, brain, and pancreas. Two major products of PAX6 are specific DNA-binding proteins, PAX6 and PAX6(5a). PAX6(5a) contains a short insertion influencing its DNA-binding activity. Heterozygous mutations in PAX6 result in abnormal eye development implicating haploinsufficiency.
Bharesh K, Chauhan +3 more
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The expression of Pax6 variants is subject to posttranscriptional regulation in the developing mouse eyelid. [PDF]
PLoS ONE, 2013 Pax6 is a pivotal transcription factor that plays a role during early eye morphogenesis, but its expression and function in eyelid development remain unknown. In this study, the expression patterns of Pax6 mRNA and protein were examined in the developing
Fangyu Shi +6 more
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Frontiers in Cell and Developmental Biology, 2022 Habenulae asymmetries are widespread across vertebrates and analyses in zebrafish, the reference model organism for this process, have provided insight into their molecular nature, their mechanisms of formation and their important roles in the ...
Léo Michel +16 more
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A Case of Autosomal Dominant Bilateral Familial Aniridia
GAIMS Journal of Medical Sciences, 2021 Aniridia is a familial or sporadic disorder affecting not only the iris but also the cornea, angle structures, lens, optic nerve, and fovea. This disorder may be associated with many other systemic abnormalities such as urogenital malignancies. We report
Kinjal Mehta, Nikhil Rupala, Kavita Shah
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The Human PAX6 Mutation Database [PDF]
Nucleic Acids Research, 1998 The Human PAX6 Mutation Database contains details of 94 mutations of the PAX6 gene. A Microsoft Access program is used by the Curator to store, update and search the database entries. Mutations can be entered directly by the Curator, or imported from submissions made via the World Wide Web.
A, Brown +3 more
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Biology, 2022 Neural regeneration is very limited in humans but extremely efficient in echinoderms. The brittle star Amphiura filiformis can regenerate both components of its central nervous system as well as the peripheral system, and understanding the molecular ...
Anna Czarkwiani +2 more
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Regulation of the Pax6 : Pax6(5a) mRNA ratio in the developing mammalian brain [PDF]
BMC Developmental Biology, 2005 Abstract Background Early in mammalian brain development cell proliferation generates a population of progenitor cells whose subsequent divisions produce increasing numbers of postmitotic neurons. Pax6 affects both processes and it has been suggested that this changing role is due at least in part to changes in the ...
Pinson, Jeni +3 more
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