prph2b

Summary

Gene Symbol: prph2b
Description: peripherin 2b (retinal degeneration, slow)
Alias: rds4, peripherin 2b (retinal degeneration, slow), retinal degradation slow 4
Species: zebrafish

Top Publications

  1. 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. ..
  2. 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. ..
  3. Maugars G, Dufour S. Demonstration of the Coexistence of Duplicated LH Receptors in Teleosts, and Their Origin in Ancestral Actinopterygians. PLoS ONE. 2015;10:e0135184 pubmed publisher
    ..This study revises the evolutionary scenario and nomenclature of gonadotropin receptors, and opens new research avenues on the roles of duplicated LHR in actinopterygians. ..
  4. 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. ..