Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
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
Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.
Cvekl A et al.
Cells, 2022
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
Kit V et al.
Jci Insight, 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
Impaired DNA-binding affinity of novel PAX6 mutations.
Lee S et al.
Scientific Reports, 2020
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B et al.
European Journal of Human Genetics : Ejhg, 2016
Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.
Xie Q et al.
Molecular Vision, 2014
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Cross SH et al.
Human Molecular Genetics, 2011
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
The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure.
Azuma N et al.
Human Molecular Genetics, 2005
Functional properties of natural human PAX6 and PAX6(5a) mutants.
Chauhan BK et al.
Investigative Ophthalmology & Visual Science, 2004
Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency.
Chauhan BK et al.
Nucleic Acids Research, 2004
Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens.
Cvekl A et al.
The International Journal of Developmental Biology, 2004
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.
Lammi L et al.
European Journal of Human Genetics : Ejhg, 2003
Novel PAX6 binding sites in the human genome and the role of repetitive elements in the evolution of gene regulation.
Zhou YH et al.
Genome Research, 2002
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Pang CP et al.
Human Mutation, 2002
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.
Favor J et al.
Genetics, 2001
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
Sonoda S et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2000
Modulation of PAX6 homeodomain function by the paired domain.
Singh S et al.
The Journal of Biological Chemistry, 2000
Mutation in the PAX6 gene in twenty patients with aniridia.
Chao LY et al.
Human Mutation, 2000
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
Okajima K et al.
American Journal of Medical Genetics, 1999
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Grønskov K et al.
European Journal of Human Genetics : Ejhg, 1999
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
Hanson I et al.
Human Molecular Genetics, 1999
Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
Singh S et al.
The Journal of Biological Chemistry, 1998
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
Axton R et al.
Journal of Medical Genetics, 1997
Autoregulation of Pax6 transcriptional activation by two distinct DNA-binding subdomains of the paired domain.
Yamaguchi Y et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 1997
Functional analysis of paired box missense mutations in the PAX6 gene.
Tang HK et al.
Human Molecular Genetics, 1997
Transcription factor genes and the developing eye: a genetic perspective.
Freund C et al.
Human Molecular Genetics, 1996
Three novel aniridia mutations in the human PAX6 gene.
Martha A et al.
Human Mutation, 1995
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Hanson IM et al.
Nature Genetics, 1994
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
Kondo-Saitoh A et al.
European Journal of Ophthalmology, 0