Results 11 to 20 of about 22,874 (232)
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
doaj +4 more sources
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
openalex +6 more sources
Cassia polysaccharides can regulate the effect of low PAX6 expression on the function of ARPE-19 cells through the Wnt/β-catenin pathway. [PDF]
Mol VisJincheng L +6 more
europepmc +2 more sources
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
openaire +2 more sources
Open Medicine, 2022 Circular RNAs (circRNAs) serve as essential players in diverse human cancers, including retinoblastoma (RB). In this study, the function of circRNA Ring Finger Protein 20 (circRNF20) in RB progression was investigated.
An Dexiang, Yang Jing, Ma Linli
doaj +1 more source
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
openaire +2 more sources
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
openaire +3 more sources
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
doaj +1 more source
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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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
doaj +1 more source