[cite web | title = Entrez Gene: RS1 retinoschisis (X-linked, juvenile) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6247| accessdate = ] ] PBB_Summary
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References
Further reading
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citations =
*cite journal | author=Sikkink SK, Biswas S, Parry NR, "et al." |title=X-linked retinoschisis: an update. |journal=J. Med. Genet. |volume=44 |issue= 4 |pages= 225–32 |year= 2007 |pmid= 17172462 |doi= 10.1136/jmg.2006.047340
*cite journal | author=Alitalo T, Kruse TA, de la Chapelle A |title=Refined localization of the gene causing X-linked juvenile retinoschisis. |journal=Genomics |volume=9 |issue= 3 |pages= 505–10 |year= 1991 |pmid= 2032721 |doi=
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Sauer CG, Gehrig A, Warneke-Wittstock R, "et al." |title=Positional cloning of the gene associated with X-linked juvenile retinoschisis. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 164–70 |year= 1997 |pmid= 9326935 |doi= 10.1038/ng1097-164
*cite journal | author=Hotta Y, Fujiki K, Hayakawa M, "et al." |title=Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. |journal=Hum. Genet. |volume=103 |issue= 2 |pages= 142–4 |year= 1998 |pmid= 9760195 |doi=
*cite journal | author=Shastry BS, Hejtmancik FJ, Trese MT |title=Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. |journal=Biochem. Biophys. Res. Commun. |volume=256 |issue= 2 |pages= 317–9 |year= 1999 |pmid= 10079181 |doi= 10.1006/bbrc.1999.0323
*cite journal | author=Mashima Y, Shinoda K, Ishida S, "et al." |title=Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. |journal=Hum. Mutat. |volume=13 |issue= 4 |pages= 338 |year= 1999 |pmid= 10220153 |doi= 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0 |doilabel=10.1002/(SICI)1098-1004(1999)13:4338::AID-HUMU163.0.CO;2-0
*cite journal | author=Huopaniemi L, Rantala A, Forsius H, "et al." |title=Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. |journal=Eur. J. Hum. Genet. |volume=7 |issue= 3 |pages= 368–76 |year= 1999 |pmid= 10234514 |doi= 10.1038/sj.ejhg.5200300
*cite journal | author=Gehrig A, White K, Lorenz B, "et al." |title=Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. |journal=Clin. Genet. |volume=55 |issue= 6 |pages= 461–5 |year= 1999 |pmid= 10450864 |doi=
*cite journal | author=Hiriyanna KT, Bingham EL, Yashar BM, "et al." |title=Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. |journal=Hum. Mutat. |volume=14 |issue= 5 |pages= 423–7 |year= 2000 |pmid= 10533068 |doi= 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D |doilabel=10.1002/(SICI)1098-1004(199911)14:5423::AID-HUMU83.0.CO;2-D
*cite journal | author=Grayson C, Reid SN, Ellis JA, "et al." |title=Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. |journal=Hum. Mol. Genet. |volume=9 |issue= 12 |pages= 1873–9 |year= 2000 |pmid= 10915776 |doi=
*cite journal | author=Weber BH, Schrewe H, Molday LL, "et al." |title=Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 9 |pages= 6222–7 |year= 2002 |pmid= 11983912 |doi= 10.1073/pnas.092528599
*cite journal | author=Tuvdendorj D, Isashiki Y, Ohba N, "et al." |title=Two Japanese patients with mutations in the XLRS1 gene. |journal=Retina (Philadelphia, Pa.) |volume=22 |issue= 3 |pages= 354–7 |year= 2002 |pmid= 12055472 |doi=
*cite journal | author=Wistow G, Bernstein SL, Wyatt MK, "et al." |title=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. |journal=Mol. Vis. |volume=8 |issue= |pages= 196–204 |year= 2002 |pmid= 12107411 |doi=
*cite journal | author=Inoue Y, Yamamoto S, Inoue T, "et al." |title=Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. |journal=Am. J. Ophthalmol. |volume=134 |issue= 4 |pages= 622–4 |year= 2002 |pmid= 12383832 |doi=
*cite journal | author=Wang T, Waters CT, Rothman AM, "et al." |title=Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. |journal=Hum. Mol. Genet. |volume=11 |issue= 24 |pages= 3097–105 |year= 2003 |pmid= 12417531 |doi=
*cite journal | author=Tanimoto N, Usui T, Takagi M, "et al." |title=Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. |journal=Jpn. J. Ophthalmol. |volume=46 |issue= 5 |pages= 568–76 |year= 2003 |pmid= 12457918 |doi=
*cite journal | author=Wu WW, Molday RS |title=Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. |journal=J. Biol. Chem. |volume=278 |issue= 30 |pages= 28139–46 |year= 2003 |pmid= 12746437 |doi= 10.1074/jbc.M302464200
*cite journal | author=Fraternali F, Cavallo L, Musco G |title=Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. |journal=FEBS Lett. |volume=544 |issue= 1-3 |pages= 21–6 |year= 2003 |pmid= 12782284 |doi=
*cite journal | author=Sato M, Oshika T, Kaji Y, Nose H |title=Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. |journal=Ophthalmic Res. |volume=35 |issue= 5 |pages= 295–300 |year= 2003 |pmid= 12920343 |doi= 10.1159/000072151
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