191
Views
2
CrossRef citations to date
0
Altmetric
Research Reports

Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa

, , , , , , & show all
Pages 70-73 | Received 24 Jun 2015, Accepted 17 Dec 2015, Published online: 30 Mar 2016

References

  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet 2006;368:1795–1809.
  • Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet 2013;84:132–141.
  • Jin ZB, Huang XF, Lv JN, et al. SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nat Commun 2014;5:3517.
  • Jaenecke I, Boissel JP, Lemke M, et al. A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. J Biol Chem 2012;287:30853–30860.
  • Hendrickx A, Beullens M, Ceulemans H, et al. Docking motif-guided mapping of the interactome of protein phosphatase-1. Chem Biol 2009;16:365–371.
  • Oishi M, Oishi A, Gotoh N, et al. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol Vis Sci 2014;55:7369–7375.
  • Shimizu K, Oishi A, Oishi M, et al. Next-generation sequencing-based molecular diagnosis of choroideremia. Case Rep Ophthalmol 2015;6:246–250.
  • Narahara M, Higasa K, Nakamura S, et al. Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One 2014;9:e100924.
  • Liu X, Jian X, Boerwinkle E. dbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations. Human Mutation 2013;34:E2393–E2402.
  • Rivolta C, Sweklo EA, Berson EL, et al. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet 2000;66:1975–1978.
  • Bernal S, Ayuso C, Antinolo G, et al. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: High prevalence and phenotypic variation. J Med Genet 2003;40:e8.
  • Hosono K, Ishigami C, Takahashi M, et al. Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PLoS One 2012;7:e31036.
  • Iwanami M, Oshikawa M, Nishida T, et al. High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2012;53:1033–1040.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.