Associated Papers
Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.
Zhang H et al.
Bmc Medical Genomics, 2025
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2024
39212610 (PubMed )
Supplement: iovs-65-10-46_s006.pdf
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Andhika NS et al.
European Journal of Human Genetics : Ejhg, 2024
38849599 (PubMed )
Supplement: 41431_2024_1638_MOESM2_ESM.xlsx › Suppl-Table-2a
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
McDonnell AF et al.
Molecular Systems Biology, 2024
38849565 (PubMed )
Supplement: 44320_2024_43_MOESM3_ESM.xlsx › Human_Variants
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V et al.
Eye (london, England), 2022
The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers.
Andrzejczak A et al.
Frontiers in Immunology, 2022
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM10_ESM.xls › PivotTable
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D et al.
Genes, 2019
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Chauhan BK et al.
American Journal of Ophthalmology Case Reports, 2018
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B et al.
European Journal of Human Genetics : Ejhg, 2016
Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.
Alibés A et al.
Nucleic Acids Research, 2010
A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient.
Maekawa M et al.
Neuroscience Letters, 2009
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK et al.
Human Genetics, 2008
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A et al.
Molecular Vision, 2007
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