메뉴 건너뛰기




Volumn 126, Issue 10, 2008, Pages 1443-1447

CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 54049126558     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.126.10.1443     Document Type: Article
Times cited : (59)

References (25)
  • 2
    • 0024388554 scopus 로고
    • Epidemiology and genetics of primary congenital glaucoma in Slovakia: Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance
    • Genĉík A. Epidemiology and genetics of primary congenital glaucoma in Slovakia: description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance. Dev Ophthalmol. 1989;16:76-115.
    • (1989) Dev Ophthalmol , vol.16 , pp. 76-115
    • Genĉík, A.1
  • 3
    • 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, et al. 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(3):367-374.
    • (2000) Hum Mol Genet , vol.9 , Issue.3 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3
  • 4
    • 0032040349 scopus 로고    scopus 로고
    • Population-based assessment of childhood blindness in southern India
    • Dandona L, Williams JD, Williams BC, et al. Population-based assessment of childhood blindness in southern India. Arch Ophthalmol. 1998;116(4):545-546.
    • (1998) Arch Ophthalmol , vol.116 , Issue.4 , pp. 545-546
    • Dandona, L.1    Williams, J.D.2    Williams, B.C.3
  • 5
    • 0028880039 scopus 로고
    • Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995;30(2):171-177.
    • (1995) Genomics , vol.30 , Issue.2 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3
  • 6
    • 0033926590 scopus 로고    scopus 로고
    • Molecular genetics of primary congenital glaucoma
    • Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye. 2000;14(pt 3B):422-428.
    • (2000) Eye , vol.14 , Issue.PART 3B , pp. 422-428
    • Sarfarazi, M.1    Stoilov, I.2
  • 7
    • 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(4):641-647.
    • (1997) Hum Mol Genet , vol.6 , Issue.4 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 8
    • 0029836678 scopus 로고    scopus 로고
    • A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region
    • Akarsu AN, Turacli ME, Aktan SG, et al. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996;5(8):1199-1203.
    • (1996) Hum Mol Genet , vol.5 , Issue.8 , pp. 1199-1203
    • Akarsu, A.N.1    Turacli, M.E.2    Aktan, S.G.3
  • 9
    • 0036272051 scopus 로고    scopus 로고
    • Molecular genetics of primary congenital glaucoma in Brazil
    • Stoilov IR, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002;43(6):1820-1827.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , Issue.6 , pp. 1820-1827
    • Stoilov, I.R.1    Costa, V.P.2    Vasconcellos, J.P.3
  • 10
    • 17344368983 scopus 로고    scopus 로고
    • Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
    • Stoilov I, Akarsu AN, Alozie I, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 1998;62(3):573-584.
    • (1998) Am J Hum Genet , vol.62 , Issue.3 , pp. 573-584
    • Stoilov, I.1    Akarsu, A.N.2    Alozie, I.3
  • 11
    • 38949146498 scopus 로고    scopus 로고
    • Myocilin allele-specific glaucoma phenotype database
    • Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 2008;29(2):207-211.
    • (2008) Hum Mutat , vol.29 , Issue.2 , pp. 207-211
    • Hewitt, A.W.1    Mackey, D.A.2    Craig, J.E.3
  • 12
    • 15844415263 scopus 로고    scopus 로고
    • Myocilin gene implicated in primary congenital glaucoma
    • Kaur K, Reddy AB, Mukhopadhyay A, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet. 2005;67(4):335-340.
    • (2005) Clin Genet , vol.67 , Issue.4 , pp. 335-340
    • Kaur, K.1    Reddy, A.B.2    Mukhopadhyay, A.3
  • 13
    • 25444472655 scopus 로고    scopus 로고
    • Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India
    • Chakrabarti S, Kaur K, Komatireddy S, et al. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis. 2005;11:111-113.
    • (2005) Mol Vis , vol.11 , pp. 111-113
    • Chakrabarti, S.1    Kaur, K.2    Komatireddy, S.3
  • 14
    • 15844383248 scopus 로고    scopus 로고
    • Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients
    • Reddy AB, Kaur K, Mandal AK, et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis. 2004;10:696-702.
    • (2004) Mol Vis , vol.10 , pp. 696-702
    • Reddy, A.B.1    Kaur, K.2    Mandal, A.K.3
  • 15
    • 18344398251 scopus 로고    scopus 로고
    • CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
    • Accessed September 28, 2003
    • Sitorus R, Ardjo SM, Lorenz B, et al. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet. 2003;40(1): e9 http://jmg.bmj.com/cgi/content/full/40/1/e9. Accessed September 28, 2003.
    • (2003) J Med Genet , vol.40 , Issue.1
    • Sitorus, R.1    Ardjo, S.M.2    Lorenz, B.3
  • 16
    • 0034854849 scopus 로고    scopus 로고
    • Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma
    • Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci. 2001;42(10):2211-2216.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , Issue.10 , pp. 2211-2216
    • Mashima, Y.1    Suzuki, Y.2    Sergeev, Y.3
  • 17
    • 0035123212 scopus 로고    scopus 로고
    • Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma
    • Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, et al. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma. Am J Ophthalmol. 2001;131(3):345-350.
    • (2001) Am J Ophthalmol , vol.131 , Issue.3 , pp. 345-350
    • Kakiuchi-Matsumoto, T.1    Isashiki, Y.2    Ohba, N.3
  • 18
    • 0036272051 scopus 로고    scopus 로고
    • Molecular genetics of primary congenital glaucoma in Brazil
    • Stoilov IR, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002;43(6):1820-1827.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , Issue.6 , pp. 1820-1827
    • Stoilov, I.R.1    Costa, V.P.2    Vasconcellos, J.P.3
  • 19
    • 0037340268 scopus 로고    scopus 로고
    • Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
    • Ohtake Y, Tanino T, Suzuki Y, et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol. 2003;87(3):302-304.
    • (2003) Br J Ophthalmol , vol.87 , Issue.3 , pp. 302-304
    • Ohtake, Y.1    Tanino, T.2    Suzuki, Y.3
  • 20
    • 0035071957 scopus 로고    scopus 로고
    • A new statistical method for haplotype reconstruction from population data
    • Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68(4):978-989.
    • (2001) Am J Hum Genet , vol.68 , Issue.4 , pp. 978-989
    • Stephens, M.1    Smith, N.J.2    Donnelly, P.3
  • 21
    • 2442723700 scopus 로고    scopus 로고
    • Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
    • Plásilová M, Stoilov I, Sarfarazi M, et al. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet. 1999;36(4):290-294.
    • (1999) J Med Genet , vol.36 , Issue.4 , pp. 290-294
    • Plásilová, M.1    Stoilov, I.2    Sarfarazi, M.3
  • 22
    • 33644848333 scopus 로고    scopus 로고
    • Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds
    • Chakrabarti S, Kaur K, Kaur I, et al. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci. 2006;47(1):43-47.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , Issue.1 , pp. 43-47
    • Chakrabarti, S.1    Kaur, K.2    Kaur, I.3
  • 23
    • 33144465347 scopus 로고    scopus 로고
    • Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
    • Alfadhli S, Behbehani A, Elshafey A, et al. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. Am J Ophthalmol. 2006;141(3):512-516.
    • (2006) Am J Ophthalmol , vol.141 , Issue.3 , pp. 512-516
    • Alfadhli, S.1    Behbehani, A.2    Elshafey, A.3
  • 24
    • 0038327885 scopus 로고    scopus 로고
    • Molecular modelling of human CYP1B1 substrate interactions and investigation of allelic variant effects on metabolism
    • Lewis DF, Gillam EM, Everett SA, Shimada T. Molecular modelling of human CYP1B1 substrate interactions and investigation of allelic variant effects on metabolism. Chem Biol Interact. 2003;145(3):281-295.
    • (2003) Chem Biol Interact , vol.145 , Issue.3 , pp. 281-295
    • Lewis, D.F.1    Gillam, E.M.2    Everett, S.A.3    Shimada, T.4
  • 25
    • 0141765727 scopus 로고    scopus 로고
    • Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients
    • Reddy AB, Panicker SG, Mandal AK, et al. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci. 2003;44(10):4200-4203.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , Issue.10 , pp. 4200-4203
    • Reddy, A.B.1    Panicker, S.G.2    Mandal, A.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.