Association of the PAX6 gene with extreme myopia rather than lower grade myopias
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DOI: 10.1136/bjophthalmol-2017-311327
Abstract: Aims To investigate the association of the paired box gene 6 (PAX6) with different severities of myopia. Methods A total of four haplotype-tagging single-nucleotide polymorphisms (SNPs; rs2071754, rs3026354, rs3026390 and rs628224) and two previously reported… read more here.
Keywords: rs644242; myopia; association; extreme myopia ... See more keywords
Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants
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DOI: 10.3389/fgene.2023.1011060
Abstract: The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and… read more here.
Keywords: pax6 gene; diversity clinical; clinical phenotypes; chinese patients ... See more keywords
Thirty Years’ History since the Discovery of Pax6: From Central Nervous System Development to Neurodevelopmental Disorders
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DOI: 10.3390/ijms23116115
Abstract: Pax6 is a sequence-specific DNA binding transcription factor that positively and negatively regulates transcription and is expressed in multiple cell types in the developing and adult central nervous system (CNS). As indicated by the morphological… read more here.
Keywords: neurodevelopmental disorders; pax6 gene; development; central nervous ... See more keywords