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
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
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
McDonnell AF et al.
Molecular Systems Biology, 2024
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Vasilyeva TA et al.
International Journal of Molecular Sciences, 2023
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Berry V et al.
Eye (london, England), 2022
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
Lima Cunha D et al.
European Journal of Human Genetics : Ejhg, 2021
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
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
Xenopus as a model system for studying pancreatic development and diabetes.
Kofent J et al.
Seminars in Cell & Developmental Biology, 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 PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
Cai F et al.
Molecular Vision, 2010
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.
Solomon BD et al.
American Journal of Medical Genetics. Part A, 2009
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
Henderson RA et al.
European Journal of Human Genetics : Ejhg, 2007