Prioritization of retinal disease genes: an integrative approach.
Iowa City, United States. In Hum Mutat, 30 Jun 2013
To approach this problem, we generate a set of feature vectors from publicly available microarray, RNA-seq, and ChIP-seq datasets of biological relevance to retinal disease, to observe patterns in gene expression specificity among tissues of the body and the eye, in addition to photoreceptor-specific signals by the CRX transcription factor.
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).