A Noncoding Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.

Retinoic acid receptor beta () is a transcriptional regulator crucial for coordinating retinoic acid- (RA-) mediated morphogenic movements, cell growth, and differentiation during eye development. Loss- or gain-of-function coding variants have been associated with microphthalmia, coloboma, and anterior segment defects. We identified a variant c.

Establishment of a murine culture system for modeling the temporal progression of cranial and trunk neural crest cell differentiation.

The neural crest (NC) is a transient population of embryonic progenitors that are implicated in a diverse range of congenital birth defects and pediatric syndromes. The broad spectrum of NC-related disorders can be attributed to the wide variety of differentiated cell types arising from the NC. models of NC development provide a powerful platform for testing the relative contributions of intrinsic and extrinsic factors mediating NC differentiation under normal and pathogenic conditions.