New insights into the development of infantile intraocular medulloepithelioma.
Boston, United States. In Am J Ophthalmol, 31 Dec 2014
METHODS: Immunoreactivity of paraffin sections for CRX (cone-rod homebox transcription factor) and NeuN (biomarker for neuronal differentiation) were investigated together with other biomarkers, including S100, glial fibrillary acidic protein, epithelial membrane antigen, and various cytokeratins.
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Nijmegen, Netherlands. In Prog Retin Eye Res, 2008
The LCA genes encode proteins with a wide variety of retinal functions, such as photoreceptor morphogenesis (CRB1, CRX), phototransduction (AIPL1, GUCY2D), vitamin A cycling (LRAT, RDH12, RPE65), guanine synthesis (IMPDH1), and outer segment phagocytosis (MERTK).