Papers on
CRX
Prioritization of retinal disease genes: an integrative approach.Braun et al., 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.
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.Zhang et al., Guangzhou, China. In Invest Ophthalmol Vis Sci, 09 Jun 2013
In these 12 families with identified mutations, mutations were found in CEP290 (three probands); GUCY2D (two probands); and CRB1, CRX, RPE65, IQCB1, LCA5, TULP1, and IMPDH1 (one proband each).
Leber congenital amaurosis: genes, proteins and disease mechanisms.Cremers et al., 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).