Results 11 to 20 of about 21,466 (185)
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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Niche-Mediated Neural Priming Enables Robust and Scalable Generation of Human Choroid Plexus Organoids. [PDF]
Adv Sci (Weinh)Compared to E8, mTeSR1 culture downregulated WNT and TGF‑β signaling, and upregulated neural differentiation pathways, enhancing neural priming. Under skin organoid induction conditions, mTeSR1‑cultured hESCs generated organoids with significantly higher neuroepithelial differentiation.
Chen Z +7 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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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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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.
Alastair Brown +3 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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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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The MH1 domain of Smad3 interacts with Pax6 and represses autoregulation of the Pax6 P1 promoter [PDF]
Nucleic Acids Research, 2007 Pax6 transcription is under the control of two main promoters (P0 and P1), and these are autoregulated by Pax6. Additionally, Pax6 expression is under the control of the TGFbeta superfamily, although the precise mechanisms of such regulation are not understood. The effect of TGFbeta on Pax6 expression was studied in the FHL124 lens epithelial cell line
Grocott, Timothy +7 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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