Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia

(2019) Ying Xiao et al.   Genetic Testing and Molecular Biomarkers

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease

(2018) Claudia Yahalom et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Molecular basis for the genome engagement by Sox proteins

(2017) Linlin Hou et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Examining cooperative binding of Sox2 on DC5 regulatory element upon complex formation with Pax6 through excess electron transfer assay

(2016) Abhijit Saha et al.   NUCLEIC ACIDS RESEARCH

PAX6, brain structure and function in human adults: advanced MRI in aniridia

(2016) Mahinda Yogarajah et al.   Annals of Clinical and Translational Neurology

Mapping gene regulatory circuitry of Pax6 during neurogenesis

(2016) Sudhir Thakurela et al.   Cell Discovery

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

(2015) Elizabeth J. Leslie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

(2015) Brett Deml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification ofin vivoDNA-binding mechanisms of Pax6 and reconstruction of Pax6-dependent gene regulatory networks during forebrain and lens development

(2015) Jian Sun et al.   NUCLEIC ACIDS RESEARCH

DNA-mediated cooperativity facilitates the co-selection of cryptic enhancer sequences by SOX2 and PAX6 transcription factors

(2015) Kamesh Narasimhan et al.   NUCLEIC ACIDS RESEARCH

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

(2014) Kathleen A. Williamson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic architecture of microphthalmia, anophthalmia and coloboma

(2014) Kathleen A. Williamson et al.   European Journal of Medical Genetics

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

(2013) Shipra Bhatia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aniridia

(2012) Melanie Hingorani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pax6: A multi-level regulator of ocular development

(2012) Ohad Shaham et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6

(2011) D. Matsushima et al.   DEVELOPMENT

Discovery and assessment of conserved Pax6 target genes and enhancers

(2011) Pedro Coutinho et al.   GENOME RESEARCH

Review and update of mutations causing Waardenburg syndrome

(2010) Véronique Pingault et al.   HUMAN MUTATION

Using protein design algorithms to understand the molecular basis of disease caused by protein–DNA interactions: the Pax6 example

(2010) Andreu Alibés et al.   NUCLEIC ACIDS RESEARCH

Concise Review: Pax6 Transcription Factor Contributes to both Embryonic and Adult Neurogenesis as a Multifunctional Regulator

(2008) Noriko Osumi et al.   STEM CELLS