Results 11 to 20 of about 20,380 (169)
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 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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Pax6 interactions with chromatin and identification of its novel direct target genes in lens and forebrain. [PDF]
PLoS ONE, 2013 Pax6 encodes a specific DNA-binding transcription factor that regulates the development of multiple organs, including the eye, brain and pancreas. Previous studies have shown that Pax6 regulates the entire process of ocular lens development.
Qing Xie +11 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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Diagnostics, 2020 Paired box 6 (PAX6) is a transcription factor that plays a critical role in tumor suppression, implying that the downregulation of PAX6 promotes tumor growth and invasiveness.
Koichiro Kimura +8 more
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Requirement of Pax6 for the integration of guidance cues in cell migration [PDF]
Royal Society Open Science, 2017 The intricate patterns of cell migration that are found throughout development are generated through a vast array of guidance cues. Responding integratively to distinct, often conflicting, migratory signals is probably crucial for cells to reach their ...
Miguel Arocena +2 more
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BMC Research Notes, 2018 Objective The corneas of heterozygous Pax6 +/− mice develop abnormally and deteriorate further after birth but it is not known whether the postnatal deterioration is predetermined by abnormal development.
Natalie J. Dorà +6 more
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