메뉴 건너뛰기




Volumn 41, Issue 11, 2005, Pages 1295-1301

Mutations and polymorphisms in the genes for myocilin and optineurin as the risk factors of primary open-angle glaucoma

Author keywords

[No Author keywords available]

Indexed keywords


EID: 29144445866     PISSN: 10227954     EISSN: 16083369     Source Type: Journal    
DOI: 10.1007/s11177-005-0232-4     Document Type: Article
Times cited : (4)

References (26)
  • 1
    • 0029980777 scopus 로고    scopus 로고
    • Number of People with Glaucoma Worldwide
    • Quigley, H.A., Number of People with Glaucoma Worldwide, Br. J. Ophthalmol., 1996, vol. 80, pp. 389-393.
    • (1996) Br. J. Ophthalmol. , vol.80 , pp. 389-393
    • Quigley, H.A.1
  • 3
    • 0027173920 scopus 로고
    • Genetic Linkage of Familial Open Angle Glaucoma to Chromosome 1q21-31
    • Sheffield, V.C., Stone, E.M., Alward, W.L.M., et al., Genetic Linkage of Familial Open Angle Glaucoma to Chromosome 1q21-31, Nat. Genet., 1993, vol. 4, pp. 47-50.
    • (1993) Nat. Genet. , vol.4 , pp. 47-50
    • Sheffield, V.C.1    Stone, E.M.2    Alward, W.L.M.3
  • 4
    • 29144485319 scopus 로고    scopus 로고
    • Primary Open-Angle Glaucoma: Pathogenesis and Principles of Treatment
    • Nesterov, A.P., Primary Open-Angle Glaucoma: Pathogenesis and Principles of Treatment, Klin. Oftal'mol., 2000, vol. 1, no. 1, pp. 4-5.
    • (2000) Klin. Oftal'mol. , vol.1 , Issue.1 , pp. 4-5
    • Nesterov, A.P.1
  • 6
    • 0032407480 scopus 로고    scopus 로고
    • Genetic Risk of Primary Open-Angle Glaucoma: Population-Based Familial Aggregation Study
    • Wolfs, R.C., Klaver, C.C., Ramrattan, R.S., et al., Genetic Risk of Primary Open-Angle Glaucoma: Population-Based Familial Aggregation Study, Arch. Ophthalmol., 1998, vol. 116, pp. 1640-1645.
    • (1998) Arch. Ophthalmol. , vol.116 , pp. 1640-1645
    • Wolfs, R.C.1    Klaver, C.C.2    Ramrattan, R.S.3
  • 7
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a Gene That Causes Primary Open-Angle Glaucoma
    • Stone, E.M., Fingert, J.H., Alward, W.L.M., et al., Identification of a Gene That Causes Primary Open-Angle Glaucoma, Science, 1997, vol. 275, pp. 668-670.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.M.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, vol. 295, pp. 1077-1079.
    • (2002) Science , vol.295 , pp. 1077-1079
    • Rezaie, T.1    Child, A.2    Hitchings, R.3
  • 9
    • 18544373561 scopus 로고    scopus 로고
    • Founder TIGR/Myocilin Mutations for Glaucoma in the Quebec Population, Hum
    • Faucher, M., Anctil, J.L., Rodrigue, M.A., et al., Founder TIGR/Myocilin Mutations for Glaucoma in the Quebec Population, Hum. Mol. Genet., 2002, vol. 11, pp. 2077-2090.
    • (2002) Mol. Genet. , vol.11 , pp. 2077-2090
    • Faucher, M.1    Anctil, J.L.2    Rodrigue, M.A.3
  • 11
    • 0142195787 scopus 로고    scopus 로고
    • Evaluation of Optineurin Sequence Variations in 1048 Patients with Open-Angle Glaucoma
    • Alward, W.L., Kwon, Y.H., Kawase, K., et al., Evaluation of Optineurin Sequence Variations in 1048 Patients with Open-Angle Glaucoma, Am. J. Ophthalmol., 2003, vol. 136, pp. 904-910.
    • (2003) Am. J. Ophthalmol. , vol.136 , pp. 904-910
    • Alward, W.L.1    Kwon, Y.H.2    Kawase, K.3
  • 12
    • 0345859268 scopus 로고    scopus 로고
    • Search for Frequent Mutations in Genes Predisposing to Breast Cancer
    • Mandelshtam, M.Yu., Golubkov, V.I., Lamber, E.P., et al., Search for Frequent Mutations in Genes Predisposing to Breast Cancer, Rus. J. Genet., 2001, vol. 37, no. 12, pp. 1415-1420.
    • (2001) Rus. J. Genet. , vol.37 , Issue.12 , pp. 1415-1420
    • Mandelshtam, M.Yu.1    Golubkov, V.I.2    Lamber, E.P.3
  • 14
    • 0344889215 scopus 로고    scopus 로고
    • Analysis of Myocilin Mutations in 1703 Glaucoma Patients from Five Different Populations
    • Fingert, J.H., Heon, E., Liebmann, J.M., et al., Analysis of Myocilin Mutations in 1703 Glaucoma Patients from Five Different Populations, Hum. Mol. Genet., 1999, vol. 8, no. 5, pp. 899-905.
    • (1999) Hum. Mol. Genet. , vol.8 , Issue.5 , pp. 899-905
    • Fingert, J.H.1    Heon, E.2    Liebmann, J.M.3
  • 15
    • 17944385621 scopus 로고    scopus 로고
    • Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)
    • Alward, W.L., Fingert, J.H., Stone, E.M., et al., Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A), New Eng. J. Med., 1998, vol. 338, pp. 1022-1027.
    • (1998) New Eng. J. Med. , vol.338 , pp. 1022-1027
    • Alward, W.L.1    Fingert, J.H.2    Stone, E.M.3
  • 16
    • 0031029171 scopus 로고    scopus 로고
    • Optimization of Single-Strand Conformational Polymorphism Analysis in the Presence of Polyethylene Glycol
    • Markoff, A., Savov, A., Vladimirov, V., et al., Optimization of Single-Strand Conformational Polymorphism Analysis in the Presence of Polyethylene Glycol, Clin. Chem., 1997, vol. 43, pp. 30-33.
    • (1997) Clin. Chem. , vol.43 , pp. 30-33
    • Markoff, A.1    Savov, A.2    Vladimirov, V.3
  • 18
    • 0035862866 scopus 로고    scopus 로고
    • Non-Secretion of Mutant Proteins of the Glaucoma Gene Myocilin in Cultured Trabecular Meshwork Cells and in Aqueous Humor
    • Jacobson, N., Andrews, M., Shepard, A.R., et al., Non-Secretion of Mutant Proteins of the Glaucoma Gene Myocilin in Cultured Trabecular Meshwork Cells and in Aqueous Humor, Hum. Mol. Genet., 2001, vol. 10, pp. 117-125.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 117-125
    • Jacobson, N.1    Andrews, M.2    Shepard, A.R.3
  • 19
    • 2942718944 scopus 로고    scopus 로고
    • Reversal of Mutant Myocilin Non-Secretion and Cell Killing: Implication for Glaucoma
    • Liu, Y. and Vollrath, D., Reversal of Mutant Myocilin Non-Secretion and Cell Killing: Implication for Glaucoma, Hum. Mol. Genet., 2004, vol. 13, pp. 1193-1204.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1193-1204
    • Liu, Y.1    Vollrath, D.2
  • 20
    • 0034641589 scopus 로고    scopus 로고
    • Polyglutamine Length-Dependent Interaction of Hsp40 and Hsp70 Family Chaperones with Truncated N-Terminal Huntingtin: Their Role in Suppression of Aggregation and Cellular Toxicity
    • Jana, N.R., Tanaka, M., Wang, G., and Nukina, N., Polyglutamine Length-Dependent Interaction of Hsp40 and Hsp70 Family Chaperones with Truncated N-Terminal Huntingtin: Their Role in Suppression of Aggregation and Cellular Toxicity, Hum. Mol. Genet., 2000, vol. 9, pp. 2009-2018.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2009-2018
    • Jana, N.R.1    Tanaka, M.2    Wang, G.3    Nukina, N.4
  • 21
    • 0033899367 scopus 로고    scopus 로고
    • Mutations in the Third Exon of the MYOC Gene in Spanish Patients with Primary Open-Angle Glaucoma
    • Vazquez, C.M., Herrero, O.M., Bastus, B.M., et al., Mutations in the Third Exon of the MYOC Gene in Spanish Patients with Primary Open-Angle Glaucoma, Ophthal. Genet., 2000, vol. 21, pp. 109-115.
    • (2000) Ophthal. Genet. , vol.21 , pp. 109-115
    • Vazquez, C.M.1    Herrero, O.M.2    Bastus, B.M.3
  • 22
    • 6344287336 scopus 로고    scopus 로고
    • Clinical Relevance of Optineurin Sequence Alterations in Japanese Glaucoma Patients
    • Umeda, T., Matsuo, T., Nagayama, M., et al., Clinical Relevance of Optineurin Sequence Alterations in Japanese Glaucoma Patients, Ophthal. Genet., 2004, vol. 25, no. 2, pp. 91-99.
    • (2004) Ophthal. Genet. , vol.25 , Issue.2 , pp. 91-99
    • Umeda, T.1    Matsuo, T.2    Nagayama, M.3
  • 23
    • 4344674789 scopus 로고    scopus 로고
    • Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma
    • Willoughby, C.E., Chan, L.L.Y., Herd, S., et al., Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma, Invest. Ophthalmol. Vis. Sci., 2004, vol. 45, pp. 3122-3130.
    • (2004) Invest. Ophthalmol. Vis. Sci. , vol.45 , pp. 3122-3130
    • Willoughby, C.E.1    Chan, L.L.Y.2    Herd, S.3
  • 24
    • 0042362073 scopus 로고    scopus 로고
    • Different Optineurin Mutation Pattern in Primary Open-Angle Glaucoma
    • Leung, Y.F., Fan, B.J., Lam, D.S.C., et al., Different Optineurin Mutation Pattern in Primary Open-Angle Glaucoma, Invest. Ophthalmol. Vis. Sci, 2003, vol. 44, pp. 3880-3884.
    • (2003) Invest. Ophthalmol. Vis. Sci , vol.44 , pp. 3880-3884
    • Leung, Y.F.1    Fan, B.J.2    Lam, D.S.C.3
  • 25
    • 0348225300 scopus 로고    scopus 로고
    • Optineurin in Primary Open-Angle Glaucoma
    • Sarfarazi, M. and Rezaie, T., Optineurin in Primary Open-Angle Glaucoma, Ophthalmol. Clin. N. Am., 2003, vol. 16, pp. 529-541.
    • (2003) Ophthalmol. Clin. N. Am. , vol.16 , pp. 529-541
    • Sarfarazi, M.1    Rezaie, T.2
  • 26
    • 0034649661 scopus 로고    scopus 로고
    • FIP2, a Coiled-Coil Protein, Links Huntingtin to Rab8 and Modulates Cellular Morphogenesis
    • Hattula, K. and Peranen, J., FIP2, a Coiled-Coil Protein, Links Huntingtin to Rab8 and Modulates Cellular Morphogenesis, Curr. Biol., 2000, vol. 10, no. 24, pp. 1603-1606.
    • (2000) Curr. Biol. , vol.10 , Issue.24 , pp. 1603-1606
    • Hattula, K.1    Peranen, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.