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Volumn 13, Issue , 2007, Pages 611-6117

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; RETINOSCHISIN; UNCLASSIFIED DRUG;

EID: 34247483238     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (15)

References (17)
  • 1
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    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Hum Mol Genet 1998; 7:1185-92.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
  • 3
    • 0042346306 scopus 로고    scopus 로고
    • Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis
    • Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 2003; 278:28139-46.
    • (2003) J Biol Chem , vol.278 , pp. 28139-28146
    • Wu, W.W.1    Molday, R.S.2
  • 5
    • 0029980311 scopus 로고    scopus 로고
    • Clinical features in affected males with X-linked retinoschisis
    • George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996; 114:274-80.
    • (1996) Arch Ophthalmol , vol.114 , pp. 274-280
    • George, N.D.1    Yates, J.R.2    Moore, A.T.3
  • 6
    • 33845772137 scopus 로고    scopus 로고
    • Focus on Molecules: Retinoschisin (RS1)
    • Molday RS. Focus on Molecules: Retinoschisin (RS1). Exp Eye Res 2007; 84:227-8.
    • (2007) Exp Eye Res , vol.84 , pp. 227-228
    • Molday, R.S.1
  • 8
    • 29744441916 scopus 로고    scopus 로고
    • Molecular pathology of X linked retinoschisis: Mutations interfere with retinoschisin secretion and oligomerisation
    • Wang T, Zhou A, Waters CT, O'Connor E, Read RJ, Trump D. Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol 2006; 90:81-6.
    • (2006) Br J Ophthalmol , vol.90 , pp. 81-86
    • Wang, T.1    Zhou, A.2    Waters, C.T.3    O'Connor, E.4    Read, R.J.5    Trump, D.6
  • 11
    • 7544242022 scopus 로고    scopus 로고
    • Four Japanese male patients with juvenile retinoschisis: Only three have mutations in the RS1 gene
    • Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. Am J Ophthalmol 2004; 138:788-98.
    • (2004) Am J Ophthalmol , vol.138 , pp. 788-798
    • Hayashi, T.1    Omoto, S.2    Takeuchi, T.3    Kozaki, K.4    Ueoka, Y.5    Kitahara, K.6
  • 13
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 14
    • 0025835296 scopus 로고    scopus 로고
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196:80-3. Erratum in: Anal Biochem 1991; 198:217.
    • Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196:80-3. Erratum in: Anal Biochem 1991; 198:217.
  • 15
    • 33845515726 scopus 로고    scopus 로고
    • Macular hole secondary to X-linked retinoschisis
    • Shukla D, Naresh KB, Rajendran A, Kim R. Macular hole secondary to X-linked retinoschisis. Eye 2006; 20:1459-61.
    • (2006) Eye , vol.20 , pp. 1459-1461
    • Shukla, D.1    Naresh, K.B.2    Rajendran, A.3    Kim, R.4
  • 16
    • 0033860197 scopus 로고    scopus 로고
    • Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    • Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 2000; 9:1873-9.
    • (2000) Hum Mol Genet , vol.9 , pp. 1873-1879
    • Grayson, C.1    Reid, S.N.2    Ellis, J.A.3    Rutherford, A.4    Sowden, J.C.5    Yates, J.R.6    Farber, D.B.7    Trump, D.8
  • 17
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    • Wang T, Waters CT, Rothman AM, Jakins TJ, Romisch K, Trump D. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet 2002; 11:3097-105.
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    • Wang, T.1    Waters, C.T.2    Rothman, A.M.3    Jakins, T.J.4    Romisch, K.5    Trump, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.