| 1 | ATP1A3, ATP1B2, RS1
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| The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
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| Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.
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| Hum Mol Genet 20(6):1132-42. Epub 2010 Dec 31.
2011
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| 2 | RS1
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| X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
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| Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA.
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| Invest Ophthalmol Vis Sci. 52(12):9250-6. 2011
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| 3 | RS1
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| Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
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| Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA.
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| Hum Mol Genet 19(7):1302-13. Epub 2010 Jan 8.PMID: 20061330 2010
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| 4 | RS1
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| Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study.
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| Kotova S, Vijayasarathy C, Dimitriadis EK, Ikonomou L, Jaffe H, Sieving PA.
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| Biochemistry 49(33):7023-32.PMID: 20677810 2010
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| 5 | RS1
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| Shi L, Jian K, Ko ML, Trump D, Ko GY.
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| Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.
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| J Biol Chem. 284(6):3966-75 2009
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| 6 | RS1
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| Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.
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| Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA.
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| Invest Ophthalmol Vis Sci. 50(11):5375-83. 2009
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| 7 | CRX, RS1
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| CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.
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| Langmann T, Lai CC, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, Weber BH.
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| Nucleic Acids Res 36(20):6523-34. Epub 2008 Oct 16.
2008
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| 8 | RS1
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| Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations.
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| Vijayasarathy C, Takada Y, Zeng Y, Bush RA, Sieving PA.
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| Invest Ophthalmol Vis Sci 48(3):991-1000. 2007
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| 9 | RS1
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| X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
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| Saldana M, Thompson J, Monk E, Trump D, Long V, Sheridan E.
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| Am J Med Genet A 143(6):608-9. No abstract available. 2007
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| 10 | RS1, SARM1
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| Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex.
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| Molday LL, Wu WW, Molday RS.
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| J Biol Chem 282(45):32792-801. Epub 2007 Sep 5.
2007
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| 11 | RS1
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| Novel phenotypic and genotypic findings in X-linked retinoschisis.
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| Tsang SH, Vaclavik V, Bird AC, Robson AG, Holder GE.
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| Arch Ophthalmol 125(2):259-67.
2007
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| 12 | RS1
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| Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration.
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| Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA.
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| Invest Ophthalmol Vis Sci. 48(8):3837-45 2007
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| 13 | RS1
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| An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
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| Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS.
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| Vision Res 46(22):3845-52. Epub 2006 Aug 1.
2006
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| 14 | RS1
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| Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout.
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| Takada Y, Fariss RN, Muller M, Bush RA, Rushing EJ, Sieving PA.
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| Mol Vis. 12:1108-16 2006
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| 15 | RS1
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| Glial transcytosis of a photoreceptor-secreted signaling protein, retinoschisin.
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| Reid SN, Farber DB.
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| Glia. 49(3):397-406. 2005
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| 16 | RS1
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| Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells.
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| Reid SN, Yamashita C, Farber DB.
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| J Neurosci 23(14):6030-40. 2003
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| 17 | RS1
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| Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
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| Wang T, Waters CT, Rothman AM, Jakins TJ, Romisch K, Trump D.
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| Hum Mol Genet 11(24):3097-105. 2002
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| 18 | RS1
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| Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.
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| Weber BH, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW, Jaissle GB, Friedburg C, Tamm E, Molday RS.
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| Proc Natl Acad Sci U S A. 99(9):6222-7 2002
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| 19 | RS1
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| X-linked retinoschisis with point mutations in the XLRS1 gene.
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| Inoue Y, Yamamoto S, Okada M, Tsujikawa M, Inoue T, Okada AA, Kusaka S, Saito Y, Wakabayashi K, Miyake Y, Fujikado T, Tano Y.
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| Arch Ophthalmol 118(1):93-6. 2000
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| 20 | PPEF1, RS1, STK19
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| Characterization of two unusual RS1 gene deletions segregating in danish retinoschisis families.
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| Huopaniemi L, Tyynismaa H, Rantala A, Rosenberg T, Alitalo T.
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| Hum Mutat 16(4):307-14. 2000
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| 21 | RS1
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| Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.
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| Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D.
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| Hum Mol Genet 9(12):1873-9. 2000
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| 22 | RS1
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| Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
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| Huopaniemi L, et al.
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| Eur J Hum Genet 7(3):368-76. 1999
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| 23 | RS1
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| Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
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| Shastry BS, et al.
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| Biochem Biophys Res Commun 256(2):317-9. 1999
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| 24 | RS1
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| Intragenic polymorphic missense mutations in the XLRS1 gene in families with juvenile X-linked retinoschisis.
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| Hiraoka M, et al.
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| Hum Genet 104(6):526-7. No abstract available 1999
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| 25 | RS1
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| Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
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| Gehrig A, et al.
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| Clin Genet 55(6):461-5. 1999
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| 26 | RS1
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| Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
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| Hiriyanna KT, et al.
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| Hum Mutat 14(5):423-427 1999
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| 27 | RS1
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| First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
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| Gehrig A, Weber BH, Lorenz B, Andrassi M.
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| J Med Genet 36(12):932-4. No abstract available 1999
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| 28 | RS1
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| Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS).
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| The Retinoschisis Consortium.
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| Hum Mol Genet 7 : 1185-1192. 1998
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| 29 | PPEF1, RS1
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| Transcript map of a 900-kb genomic region in Xp22.1-p22.2 : identification of 12 novel genes.
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| Warneke-Wittstock R, et al.
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| Genomics 51 : 59-67. 1998
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| 30 | RS1
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| Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
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| Hotta Y, et al.
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| Hum Genet 103 : 142-144. 1998
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| 31 | RS1
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| Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
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| Rodriguez IR, Mazuruk K, Jaworski C, Iwata F, Moreira EF, Kaiser-Kupfer MI.
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| Invest Ophthalmol 39 : 1736-1739. 1998
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| 32 | RS1
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| Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.
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| Huopaniemi L, Rantala A, Tahvanainen E, de la Chapelle A, Alitalo T.
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| Am J Hum Genet 60(5):1139-49. 1997
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| 33 | RS1
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| Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.
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| Shastry BS, Hejtmancik JF, Rodriguez A, Rodriguez F, Tamayo ML.
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| J Med Genet 34(6):504-6. 1997
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| 34 | CLS, KFSD, RS1
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| High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes.
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| Van de Vosse E, Van der Bent P, Heus JJ, Van Ommen GJ, Den Dunnen JT.
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| Mamm Genome 8(7):497-501. 1997
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| 35 | RS1
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| High-resolution physical map of the X-linked retinoschisis interval in Xp22.
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| Walpole SM, Nicolaou A, Howell GR, Whittaker A, Bentley DR, Ross MT, Yates JR, Trump D.
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| Genomics 44(3):300-8. 1997
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| 36 | RS1
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| Positional cloning of the gene associated with X-linked juvenile retinoschisis.
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| Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH.
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| Nat Genet 17(2):164-70. 1997
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| 37 | PPEF1, RS1
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| Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis.
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| van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA.
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| Hum Genet 101(2):235-7. 1997
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| 38 | RS1
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| A gene from the critical region for X-linked juvenile retinoschisis on Xp22.3 is homologous to the drosophila retinal degeneration C(rdgc) gene. (abst)
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| Brunella F, et al.
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| Eur J Hum Genet 4(S1) : 9. 1996
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| 39 | RS1
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| Linkage mapping of new X-linked juvenile retinoschisis kindreds using microsatellite markers.
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| Shastry BS, et al.
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| Biochem Biophys Res Commun 220 : 824-827. 1996
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| 40 | CLS, RP15, HYP1, KFSD, RS1
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| An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15 : refined localization of RS.
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| Van de Vosse E, et al.
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| Eur J Hum Genet 4 : 101-104. 1996
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| 41 | RS1
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| X-linked juvenile retinoschisis : localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC.
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| Pawar H, et al.
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| Hum Hered 46 : 329-335. 1996
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| 42 | RS1
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| Improved genetic mapping of X linked retinoschisis.
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| George NDL, et al.
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| J Med Genet 33 : 919-922. 1996
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| 43 | RS1
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| Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus : further narrowing of the RS candidate region.
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| Dumur V, et al.
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| Hum Genet 96 : 79-82. 1995
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| 44 | RS1
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| Refined genetic mapping of juvenile X-linked retinoschisis.
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| Pawar H, et al.
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| Hum Hered 45 : 206-210. 1995
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| 45 | RS1
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| X-linked juvŽnile retinoschisis (RS) maps between DXS987 and DXS443.
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| Weber BHF, et al.
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| Cytogenet Cell Genet 69 : 35-37. 1995
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| 46 | RS1
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| Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.
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| Bergen AAB, et al.
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| J Med Genet 31 : 972-975. 1994
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| 47 | RS1
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| Construction of a YAC contig in the Xp22 region containing the Coffin-Lowry syndrome and the retinoschisis genes. (abstr)
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| Trivier E, et al.
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| Cytogenet Cell Genet 67 : 339. 1994
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| 48 | RS1
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| Multipoint linkage analysis in X-linked juvenile retinoschisis.
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| Bergen AAB, et al.
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| Clin Genet 43 : 113-116. 1993
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| 49 | CLS, RS1
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| Construction of a YAC contig in the Xp22 region containing the Coffin-Lowry syndrome and the retinoschisis genes.
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| Biancalana V, et al.
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| Cytogenet Cell Genet 64 : 179. 1993
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| 50 | RS1
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| Characterization of a highly polymorphic microsatellite at the DXS207 locus : confirmation of very close linkage to the retinoschisis disease gene.
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| Oudet C, et al.
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| J Med Genet 30 : 300-303. 1992
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| 51 | RS1
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| Refined localization of the gene causing X-linked juvenile retinoschisis.
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| Alitalo T, et al.
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| Genomics 9 : 505-510. 1991
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| 52 | RS1
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| Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes.
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| Sieving PA, et al.
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| Am J Hum Genet 47 : 616-621. 1990
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| 53 | RS1, DXS274
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| Additional linkage data and gene order around the locus for X-linked retinoschisis.
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| Alitalo T, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 950. 1989
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| 54 | RS1
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| Linkage relationship between retinoschisis and four maker loci.
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| Gellert G, et al.
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| Hum Genet 79 : 382-384. 1988
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| 55 | RS1
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| Linkage studies in X-linked retinoschisis using eight polymorphic DNA probes from the short arm of X chromosome.
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| Alitalo T, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 570. 1987
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| 56 | RS1
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| Linkage of retinoschisis to distal Xp markers.
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| Goudie DR, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 622. 1987
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| 57 | RS1
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| DNA linkage analysis of X-chromosome linked retinoschisis.
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| Dahl N, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 602. 1987
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| 58 | RS1
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| Linkage relationship between the locus for retinoschisis and four marker loci.
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| Gellert G, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 618. 1987
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| 59 | RS1
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| X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.
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| Alitalo T, et al.
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| Clin Genet 32 : 192-195. 1987
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| 60 | RS1
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| Further linkage studies between retinoschisis and cloned DNA sequences from the distal Xp.
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| Gal A, et al.
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| (HGM8) Cytogenet Cell Genet 40 : 634. 1985
|