Congenital aniridia is a rare genetic eye disorder with total or partial absence of the iris from
birth. In most cases the genetic origin of aniridia is a mutation in the PAX6 gene, leading to …

Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the
absence of iris tissue associated with multiple other ocular changes, some present from birth …

The vertebrate retina is comprised of seven major cell types that are generated in
overlapping but well-defined intervals. To identify genes that might regulate retinal …

Pax genes encode a family of transcription factors that orchestrate complex processes of
lineage determination in the developing embryo. Their key role is to specify and maintain …

Eye development has been a paradigm for the study of organogenesis, from the
demonstration of lens induction through epithelial tissue morphogenesis, to neuronal …

Aniridia is a rare panocular disorder affecting the cornea, anterior chamber, iris, lens, retina,
macula and optic nerve. It occurs because of mutations in PAX6 on band p13 of …

The PAX6 gene is involved in ocular morphogenesis and is expressed in the developing
central nervous system and numerous ocular tissues during development. PAX6 mutations …

Pax6, a transcription factor containing the bipartite paired DNA-binding domain, has critical
roles in development of the eye, nose, pancreas, and central nervous system. The 2.5 Å …

The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams
pursuing identification of human and mouse eye disease causing genes, cloning vertebrate …

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically
heterogeneous neurodegenerative disorders characterized by pro‐gressive spasticity of the …