Gene Symbol: rs1a
Description: retinoschisin 1a
Alias: rs1, zgc:92703, retinoschisin, retinoschisis (X-linked, juvenile) 1
Yokoi H, Yan Y, Miller M, Bremiller R, Catchen J, Johnson E, et al
. Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation. Dev Biol. 2009;329:1-15 pubmed publisher
..Results identified genes expressed in cartilage (col2a1a and col11a2), retina (calb2a, calb2b, crx, neurod, rs1, sox4a and vsx1) and pectoral fin bud (klf2b and EST AI722369) as candidate targets for Sox9...
Chen X, Liu Y, Sheng X, Tam P, Zhao K, Chen X, et al
. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2014;23:2926-39 pubmed publisher
..We conclude that mutations of PRPF4 cause RP via haploinsufficiency and dominant-negative effects, and establish PRPF4 as a new U4/U6-U5 snRNP component associated with adRP. ..
Liu Y, Chen X, Qin B, Zhao K, Zhao Q, Staley J, et al
. Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. J Ophthalmol. 2015;2015:816329 pubmed publisher
..Conclusions. We conclude that knocking down Snrnp200 in zebrafish could alter regular splicing and expression of a panel of genes, which may eventually trigger rod defects. ..
Chen X, Sheng X, Zhuang W, Sun X, Liu G, Shi X, et al
. GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. Genet Med. 2017;19:945-954 pubmed publisher
..The diverse pathogenic modes of GUCA1A mutations may explain the phenotypic diversities.Genet Med advance online publication 26 January 2017. ..