The transcription factor PAX6 is essential in ocular development in vertebrates, being
considered the master regulator of the eye. During eye development, it is essential for the …

Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …

The human body is composed of diverse cell types with distinct functions. Although it is
known that lineage specification depends on cell-specific gene expression, which in turn is …

In addition to protein coding sequence, the human genome contains a significant amount of
regulatory DNA, the identification of which is proving somewhat recalcitrant to both in silico …

Transcriptional control is a major mechanism for regulating gene expression. The complex
machinery required to effect this control is still emerging from functional and evolutionary …

Mutations in distant regulatory elements can have a negative impact on human development
and health, yet because of the difficulty of detecting these critical sequences, we …

During limb development, coordinated expression of several Hoxd genes is required in
presumptive digits. We searched for the underlying control sequences upstream from the …

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

Ocular lens development represents an advantageous system in which to study regulatory
mechanisms governing cell fate decisions, extracellular signaling, cell and tissue …

The strictly regulated expression of most pleiotropic developmental control genes is critically
dependent on the activity of long-range cis-regulatory elements. This was revealed by the …