메뉴 건너뛰기




Volumn 41, Issue 9, 2004, Pages 647-651

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; MYOCILIN;

EID: 4444315011     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.020024     Document Type: Article
Times cited : (126)

References (34)
  • 1
    • 0027399771 scopus 로고
    • Open-angle glaucoma
    • Quigley HA. Open-angle glaucoma. N Engl J Med 1993;328:1097-106.
    • (1993) N Engl J Med , vol.328 , pp. 1097-1106
    • Quigley, H.A.1
  • 2
    • 0029980777 scopus 로고    scopus 로고
    • Number of people with glaucoma worldwide
    • Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996;80:389-93.
    • (1996) Br J Ophthalmol , vol.80 , pp. 389-393
    • Quigley, H.A.1
  • 3
    • 0020955893 scopus 로고
    • The epidemiology of open-angle glaucoma: A review
    • Leske MC. The epidemiology of open-angle glaucoma: a review. Am J Epidemiol 1983;118:166-91.
    • (1983) Am J Epidemiol , vol.118 , pp. 166-191
    • Leske, M.C.1
  • 5
    • 0036201576 scopus 로고    scopus 로고
    • Genetic basis of glaucoma
    • WuDunn D. Genetic basis of glaucoma. Curr Opin Ophthalmol 2002;13:55-60.
    • (2002) Curr Opin Ophthalmol , vol.13 , pp. 55-60
    • WuDunn, D.1
  • 9
    • 0020592326 scopus 로고
    • Primary infantile glaucoma (congenital glaucoma)
    • deLuise VP, Anderson DR. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 1983;28:1-19.
    • (1983) Surv Ophthalmol , vol.28 , pp. 1-19
    • DeLuise, V.P.1    Anderson, D.R.2
  • 10
    • 0019291895 scopus 로고
    • Congenital glaucoma and its inheritance
    • François J. Congenital glaucoma and its inheritance. Ophthalmologica 1980;181:61-73.
    • (1980) Ophthalmologica , vol.181 , pp. 61-73
    • François, J.1
  • 12
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 18
    • 1942522732 scopus 로고    scopus 로고
    • Novel cytochrome P4501B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
    • Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P4501B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003;22:496.
    • (2003) Hum Mutat , vol.22 , pp. 496
    • Colomb, E.1    Kaplan, J.2    Garchon, H.J.3
  • 19
    • 0037326520 scopus 로고    scopus 로고
    • Primary congenital glaucoma: A novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin
    • Soley GC, Bosse KA, Flikier D, Flikier P, Azofeifa J, Mardin CY, Reis A, Michels-Rautenstrauss KG, Rautenstrauss BW. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma 2003;12:27-30.
    • (2003) J Glaucoma , vol.12 , pp. 27-30
    • Soley, G.C.1    Bosse, K.A.2    Flikier, D.3    Flikier, P.4    Azofeifa, J.5    Mardin, C.Y.6    Reis, A.7    Michels-Rautenstrauss, K.G.8    Rautenstrauss, B.W.9
  • 22
    • 0345508240 scopus 로고    scopus 로고
    • Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation
    • Melki R, Belmouden A, Brezin A, Garchon HJ. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. Hum Mutat 2003;22:179.
    • (2003) Hum Mutat , vol.22 , pp. 179
    • Melki, R.1    Belmouden, A.2    Brezin, A.3    Garchon, H.J.4
  • 23
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000;9:367-74.
    • (2000) Hum Mol Genet , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3    Tomey, K.F.4    Dueker, D.K.5    Jabak, M.6    Astle, W.F.7    Lupski, J.R.8
  • 24
    • 0036178055 scopus 로고    scopus 로고
    • Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population
    • Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol 2002;61:586-94.
    • (2002) Mol Pharmacol , vol.61 , pp. 586-594
    • Aklillu, E.1    Oscarson, M.2    Hidestrand, M.3    Leidvik, B.4    Otter, C.5    Ingelman-Sundberg, M.6
  • 25
    • 0032539587 scopus 로고    scopus 로고
    • Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain
    • Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet 1998;75:497-504.
    • (1998) Am J Med Genet , vol.75 , pp. 497-504
    • Bermejo, E.1    Martinez-Frias, M.L.2
  • 26
    • 0025916983 scopus 로고
    • Racial variations in the prevalence of primary open-angle glaucoma
    • The Baltimore Eye Survey
    • Tielsch JM, Sommer A, Katz J, Royall RM, Quigley HA, Javitt J. Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey. JAMA 1991;266:369-74.
    • (1991) JAMA , vol.266 , pp. 369-374
    • Tielsch, J.M.1    Sommer, A.2    Katz, J.3    Royall, R.M.4    Quigley, H.A.5    Javitt, J.6
  • 28
    • 0028276386 scopus 로고
    • Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2
    • Suffer TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem 1994;269:13092-9.
    • (1994) J Biol Chem , vol.269 , pp. 13092-13099
    • Suffer, T.R.1    Tang, Y.M.2    Hayes, C.L.3    Wo, Y.Y.4    Jabs, E.W.5    Li, X.6    Yin, H.7    Cody, C.W.8    Greenlee, W.F.9
  • 29
  • 32
    • 0043175474 scopus 로고    scopus 로고
    • CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions
    • Sasaki M, Tanaka Y, Kaneuchi M, Sakuragi N, Dahiya R. CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions. Cancer Res 2003;63:3913-8.
    • (2003) Cancer Res , vol.63 , pp. 3913-3918
    • Sasaki, M.1    Tanaka, Y.2    Kaneuchi, M.3    Sakuragi, N.4    Dahiya, R.5
  • 34
    • 0042168972 scopus 로고    scopus 로고
    • Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol
    • Mammen JS, Pittman GS, Li Y, Abou-Zahr F, Bejjani BA, Bell DA, Strickland PT, Sutter TR. Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8- dihydrodiol. Carcinogenesis 2003;24:1247-55.
    • (2003) Carcinogenesis , vol.24 , pp. 1247-1255
    • Mammen, J.S.1    Pittman, G.S.2    Li, Y.3    Abou-Zahr, F.4    Bejjani, B.A.5    Bell, D.A.6    Strickland, P.T.7    Sutter, T.R.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.