Transcription factors are modular proteins where distinct functions, such as DNA binding,
trans-activation or trans-repression, are often contained within separable domains. DNA …

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 …

IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy,
enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that …

Individuals affected with developmental disorders of speech and language have substantial
difficulty acquiring expressive and/or receptive language in the absence of any profound …

In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid
abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid …

Human Forkhead-box (FOX) gene family consists of at least 43 members, including FOXA1,
FOXA2, FOXA3, FOXB1, FOXC1, FOXC2, FOXD1, FOXD2, FOXD3, FOXD4, FOXD5 …

Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of
childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor …

This review discusses the function of neural crest as they relate to cardiovascular defects.
The cardiac neural crest cells are a subpopulation of cranial neural crest discovered nearly …

purpose. Structures derived from periocular mesenchyme arise by complex interactions
between neural crest and mesoderm. Defects in development or function of structures …

During development of the anterior eye segment, cells that originate from the surface
epithelium or the neuroepithelium need to interact with mesenchymal cells, which …