Associated Papers
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
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Chauhan BK et al.
American Journal of Ophthalmology Case Reports, 2018
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
Souzeau E et al.
Molecular Vision, 2018
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
Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding.
Xu HE et al.
Genes & Development, 1999
Missense mutations in the PAX6 gene in aniridia.
Azuma N et al.
Investigative Ophthalmology & Visual Science, 1998
Select a paper to view details