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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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RS1

Introduction

Retinoschisis (X-linked, juvenile) 1, also known as RS1, is a human gene.[1]

References

References

  1. ↑ “Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1”.
Further reading

Further reading

  • Sikkink SK, Biswas S, Parry NR; et al. (2007). “X-linked retinoschisis: an update”. J. Med. Genet. 44 (4): 225–32. doi:10.1136/jmg.2006.047340. PMID 17172462.
  • Alitalo T, Kruse TA, de la Chapelle A (1991). “Refined localization of the gene causing X-linked juvenile retinoschisis”. Genomics. 9 (3): 505–10. PMID 2032721.
  • Bonaldo MF, Lennon G, Soares MB (1997). “Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Res. 6 (9): 791–806. PMID 8889548.
  • Sauer CG, Gehrig A, Warneke-Wittstock R; et al. (1997). “Positional cloning of the gene associated with X-linked juvenile retinoschisis”. Nat. Genet. 17 (2): 164–70. doi:10.1038/ng1097-164. PMID 9326935.
  • Hotta Y, Fujiki K, Hayakawa M; et al. (1998). “Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene”. Hum. Genet. 103 (2): 142–4. PMID 9760195.
  • Shastry BS, Hejtmancik FJ, Trese MT (1999). “Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis”. Biochem. Biophys. Res. Commun. 256 (2): 317–9. doi:10.1006/bbrc.1999.0323. PMID 10079181.
  • Mashima Y, Shinoda K, Ishida S; et al. (1999). “Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online”. Hum. Mutat. 13 (4): 338. doi:10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0. PMID 10220153.
  • Huopaniemi L, Rantala A, Forsius H; et al. (1999). “Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland”. Eur. J. Hum. Genet. 7 (3): 368–76. doi:10.1038/sj.ejhg.5200300. PMID 10234514.
  • Gehrig A, White K, Lorenz B; et al. (1999). “Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis”. Clin. Genet. 55 (6): 461–5. PMID 10450864.
  • Hiriyanna KT, Bingham EL, Yashar BM; et al. (2000). “Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change”. Hum. Mutat. 14 (5): 423–7. doi:10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D. PMID 10533068.
  • Grayson C, Reid SN, Ellis JA; et al. (2000). “Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells”. Hum. Mol. Genet. 9 (12): 1873–9. PMID 10915776.
  • Weber BH, Schrewe H, Molday LL; et al. (2002). “Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure”. Proc. Natl. Acad. Sci. U.S.A. 99 (9): 6222–7. doi:10.1073/pnas.092528599. PMID 11983912.
  • Tuvdendorj D, Isashiki Y, Ohba N; et al. (2002). “Two Japanese patients with mutations in the XLRS1 gene”. Retina (Philadelphia, Pa.). 22 (3): 354–7. PMID 12055472.
  • Wistow G, Bernstein SL, Wyatt MK; et al. (2002). “Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts”. Mol. Vis. 8: 196–204. PMID 12107411.
  • Inoue Y, Yamamoto S, Inoue T; et al. (2002). “Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis”. Am. J. Ophthalmol. 134 (4): 622–4. PMID 12383832.
  • Wang T, Waters CT, Rothman AM; et al. (2003). “Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis”. Hum. Mol. Genet. 11 (24): 3097–105. PMID 12417531.
  • Tanimoto N, Usui T, Takagi M; et al. (2003). “Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene”. Jpn. J. Ophthalmol. 46 (5): 568–76. PMID 12457918.
  • Wu WW, Molday RS (2003). “Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis”. J. Biol. Chem. 278 (30): 28139–46. doi:10.1074/jbc.M302464200. PMID 12746437.
  • Fraternali F, Cavallo L, Musco G (2003). “Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin”. FEBS Lett. 544 (1–3): 21–6. PMID 12782284.
  • Sato M, Oshika T, Kaji Y, Nose H (2003). “Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner’s syndrome”. Ophthalmic Res. 35 (5): 295–300. doi:10.1159/000072151. PMID 12920343.

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