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Volumn 13, Issue 5, 2004, Pages 377-384

Polymorphisms in the Myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma

Author keywords

Chinese; Glaucoma; MYOC; Polymorphisms; Promoter

Indexed keywords

GENOMIC DNA;

EID: 4644350120     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ijg.0000133149.37063.84     Document Type: Article
Times cited : (20)

References (38)
  • 2
    • 0000756925 scopus 로고    scopus 로고
    • Epidemiology of chronic open-angle glaucoma
    • Ritch R, Shields MB, Krupin T, eds. St. Louis: Mosby
    • Wilson R, Martone J. Epidemiology of chronic open-angle glaucoma. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas. St. Louis: Mosby; 1996:753-768.
    • (1996) The Glaucomas , pp. 753-768
    • Wilson, R.1    Martone, J.2
  • 3
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.3
  • 4
    • 0031149050 scopus 로고    scopus 로고
    • A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
    • Kubota R, Noda S, Wang Y, et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics. 1997;41:360-369.
    • (1997) Genomics , vol.41 , pp. 360-369
    • Kubota, R.1    Noda, S.2    Wang, Y.3
  • 5
    • 0031851299 scopus 로고    scopus 로고
    • A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region
    • Trifan OC, Traboulsi EI, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol. 1998;126:17-28.
    • (1998) Am J Ophthalmol , vol.126 , pp. 17-28
    • Trifan, O.C.1    Traboulsi, E.I.2    Stoilova, D.3
  • 6
    • 0031970713 scopus 로고    scopus 로고
    • Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region
    • Sarfarazi M, Child A, Stoilova D, et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet. 1998;62:641-652.
    • (1998) Am J Hum Genet , vol.62 , pp. 641-652
    • Sarfarazi, M.1    Child, A.2    Stoilova, D.3
  • 7
    • 0033000146 scopus 로고    scopus 로고
    • GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36
    • Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol. 1999;117:237-241.
    • (1999) Arch Ophthalmol , vol.117 , pp. 237-241
    • Wirtz, M.K.1    Samples, J.R.2    Rust, K.3
  • 8
    • 18244385269 scopus 로고    scopus 로고
    • Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    • Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
    • (2002) Science , vol.295 , pp. 1077-1079
    • Rezaie, T.1    Child, A.2    Hitchings, R.3
  • 9
    • 0032231625 scopus 로고    scopus 로고
    • Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma
    • Wiggs JL, Allingham RR, Vollrath D, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet. 1998;63:1549-1552.
    • (1998) Am J Hum Genet , vol.63 , pp. 1549-1552
    • Wiggs, J.L.1    Allingham, R.R.2    Vollrath, D.3
  • 10
    • 17344372403 scopus 로고    scopus 로고
    • Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma
    • Stoilova D, Child A, Brice G, et al. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet. 1998;35:989-992.
    • (1998) J Med Genet , vol.35 , pp. 989-992
    • Stoilova, D.1    Child, A.2    Brice, G.3
  • 11
    • 0344889215 scopus 로고    scopus 로고
    • Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
    • Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
    • (1999) Hum Mol Genet , vol.8 , pp. 899-905
    • Fingert, J.H.1    Heon, E.2    Liebmann, J.M.3
  • 12
    • 0036884922 scopus 로고    scopus 로고
    • Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients
    • Michels-Rautenstrauss K, Mardin C, Walkili N, et al. Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum Mutat. 2002;20:479-480.
    • (2002) Hum Mutat , vol.20 , pp. 479-480
    • Michels-Rautenstrauss, K.1    Mardin, C.2    Walkili, N.3
  • 13
    • 0033829572 scopus 로고    scopus 로고
    • Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
    • Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 2000;130:165-177.
    • (2000) Am J Ophthalmol , vol.130 , pp. 165-177
    • Shimizu, S.1    Lichter, P.R.2    Johnson, A.T.3
  • 14
    • 0030778592 scopus 로고    scopus 로고
    • Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan
    • Suzuki Y, Shirato S, Taniguchi F, et al. Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan. Am J Hum Genet. 1997;61:1202-1204.
    • (1997) Am J Hum Genet , vol.61 , pp. 1202-1204
    • Suzuki, Y.1    Shirato, S.2    Taniguchi, F.3
  • 15
    • 0034266027 scopus 로고    scopus 로고
    • Novel mutations in the myocillin gene in Japanese glaucoma patients
    • Kubota R, Mashima Y, Ohtake Y, et al. Novel mutations in the myocillin gene in Japanese glaucoma patients. Hum Mutat. 2000;16:270.
    • (2000) Hum Mutat , vol.16 , pp. 270
    • Kubota, R.1    Mashima, Y.2    Ohtake, Y.3
  • 16
    • 0034020149 scopus 로고    scopus 로고
    • Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma
    • Lam DS, Leung YF, Chua JK, et al. Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2000;41:1386-1391.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1386-1391
    • Lam, D.S.1    Leung, Y.F.2    Chua, J.K.3
  • 17
    • 0036784796 scopus 로고    scopus 로고
    • TIGR/MYOC Gene sequence alterations in individuals with and without primary open angle glaucoma
    • Pang CP, Leung YF, Fan BJ, et al. TIGR/MYOC Gene sequence alterations in individuals with and without primary open angle glaucoma. Invest Ophthalmol Vis Sci. 2002;43:3231-3235.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 3231-3235
    • Pang, C.P.1    Leung, Y.F.2    Fan, B.J.3
  • 18
    • 0033833318 scopus 로고    scopus 로고
    • Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma
    • Suzuki R, Hattori Y, Okano K. Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma. Br J Ophthalmol. 2000;84:1078.
    • (2000) Br J Ophthalmol , vol.84 , pp. 1078
    • Suzuki, R.1    Hattori, Y.2    Okano, K.3
  • 19
    • 0035171314 scopus 로고    scopus 로고
    • Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
    • Fingert JH, Clark AF, Craig JE, et al. Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci. 2001;42:145-152.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 145-152
    • Fingert, J.H.1    Clark, A.F.2    Craig, J.E.3
  • 20
    • 0034769119 scopus 로고    scopus 로고
    • Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma
    • Colomb E, Nguyen TD, Bechetoille A, et al. Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma. Clin Genet. 2001;60:220-225.
    • (2001) Clin Genet , vol.60 , pp. 220-225
    • Colomb, E.1    Nguyen, T.D.2    Bechetoille, A.3
  • 21
    • 0036094912 scopus 로고    scopus 로고
    • Apolipoprotein E promoter single nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene
    • Copin B, Brezin AP, Valtot F, et al. Apolipoprotein E promoter single nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet. 2002;70:1575-1581.
    • (2002) Am J Hum Genet , vol.70 , pp. 1575-1581
    • Copin, B.1    Brezin, A.P.2    Valtot, F.3
  • 22
    • 0042131698 scopus 로고    scopus 로고
    • Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time
    • Polansky JR, Juster RP, Spaeth GL. Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time. Clin Genet. 2003;64:18-27.
    • (2003) Clin Genet , vol.64 , pp. 18-27
    • Polansky, J.R.1    Juster, R.P.2    Spaeth, G.L.3
  • 23
    • 0036733041 scopus 로고    scopus 로고
    • Variations in the myocilin gene in patients with open-angle glaucoma
    • Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-1197.
    • (2002) Arch Ophthalmol , vol.120 , pp. 1189-1197
    • Alward, W.L.1    Kwon, Y.H.2    Khanna, C.L.3
  • 25
    • 0035134170 scopus 로고    scopus 로고
    • High-throughput conformation-sensitive gel electrophoresis for discovery of SNPs
    • Leung YF, Tam PO, Tong WC, et al. High-throughput conformation-sensitive gel electrophoresis for discovery of SNPs. Biotechniques. 2001;30:334-340.
    • (2001) Biotechniques , vol.30 , pp. 334-340
    • Leung, Y.F.1    Tam, P.O.2    Tong, W.C.3
  • 26
    • 0033813257 scopus 로고    scopus 로고
    • Cost savings using automated DNA sequencing
    • Leung YF, Tam POS, Baum L, et al. Cost savings using automated DNA sequencing. Biotechniques. 2000;29:544.
    • (2000) Biotechniques , vol.29 , pp. 544
    • Leung, Y.F.1    Tam, P.O.S.2    Baum, L.3
  • 27
    • 0023796209 scopus 로고
    • On measures of gametic disequilibrium
    • Lewontin RC. On measures of gametic disequilibrium. Genetics. 1988;120:849-852.
    • (1988) Genetics , vol.120 , pp. 849-852
    • Lewontin, R.C.1
  • 29
    • 0037211967 scopus 로고    scopus 로고
    • Generic number systems and haplotype analysis
    • Zhao JH, Sham PC. Generic number systems and haplotype analysis. Comp Meth Prog Biomed. 2003;70:1-9.
    • (2003) Comp Meth Prog Biomed , vol.70 , pp. 1-9
    • Zhao, J.H.1    Sham, P.C.2
  • 30
    • 0033779717 scopus 로고    scopus 로고
    • Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization
    • Swiderski RE, Ross JL, Fingert JH, et al. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci. 2000;41:3420-3428.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3420-3428
    • Swiderski, R.E.1    Ross, J.L.2    Fingert, J.H.3
  • 31
    • 0034014021 scopus 로고    scopus 로고
    • Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye
    • Karali A, Russell P, Stefani FH, et al. Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye. Invest Ophthalmol Vis Sci. 2000;41:729-740.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 729-740
    • Karali, A.1    Russell, P.2    Stefani, F.H.3
  • 32
    • 0035170084 scopus 로고    scopus 로고
    • Expression of myocilin/TIGR in normal and glaucomatous primate optic nerves
    • Ricard CS, Agapova OA, Salvador-Silva M, et al. Expression of myocilin/TIGR in normal and glaucomatous primate optic nerves. Exp Eye Res. 2001;73:433-437.
    • (2001) Exp Eye Res , vol.73 , pp. 433-437
    • Ricard, C.S.1    Agapova, O.A.2    Salvador-Silva, M.3
  • 33
    • 0032513020 scopus 로고    scopus 로고
    • Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells
    • Nguyen TD, Chen P, Huang WD, et al. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem. 1998;273:6341-6350.
    • (1998) J Biol Chem , vol.273 , pp. 6341-6350
    • Nguyen, T.D.1    Chen, P.2    Huang, W.D.3
  • 34
    • 0033889169 scopus 로고    scopus 로고
    • Regulation of human Myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: Role of upstream stimulatory factor
    • Kirstein L, Cvekl A, Chauhan BK, et al. Regulation of human Myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor. Genes Cells. 2000;5:661-676.
    • (2000) Genes Cells , vol.5 , pp. 661-676
    • Kirstein, L.1    Cvekl, A.2    Chauhan, B.K.3
  • 35
    • 0035651036 scopus 로고    scopus 로고
    • Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells
    • Shepard AR, Jacobson N, Fingert JH, et al. Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Invest Ophthalmol Vis Sci. 2001;42:3173-3181.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 3173-3181
    • Shepard, A.R.1    Jacobson, N.2    Fingert, J.H.3
  • 36
    • 18544386196 scopus 로고    scopus 로고
    • Multi-locus interactions predict risk for post-PTCA restenosis: An approach to the genetic analysis of common complex disease
    • Zee RY, Hoh J, Cheng S, et al. Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease. Phamarcogenomics J. 2002;2:197-201.
    • (2002) Phamarcogenomics J , vol.2 , pp. 197-201
    • Zee, R.Y.1    Hoh, J.2    Cheng, S.3
  • 37
    • 0028913523 scopus 로고
    • An E-M algorithm and testing strategy for multiple-locus haplotypes
    • Long JC, Williams RC, Urbanek M. An E-M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet. 1995;56:799-810.
    • (1995) Am J Hum Genet , vol.56 , pp. 799-810
    • Long, J.C.1    Williams, R.C.2    Urbanek, M.3
  • 38
    • 0033794938 scopus 로고    scopus 로고
    • Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data
    • Fallin D, Schork NJ. Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. Am J Hum Genet. 2000;67:947-995.
    • (2000) Am J Hum Genet , vol.67 , pp. 947-995
    • Fallin, D.1    Schork, N.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.