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Volumn 2010, Issue , 2010, Pages

Axenfeld-Rieger syndrome associated with congenital glaucoma and cytochrome P4501B1 gene mutations

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EID: 80051788458     PISSN: 16879627     EISSN: 16879635     Source Type: Journal    
DOI: 10.1155/2010/212656     Document Type: Article
Times cited : (43)

References (49)
  • 2
    • 0033834486 scopus 로고    scopus 로고
    • Axenfeld-Rieger syndrome in the age of molecular genetics
    • W. L. M. Alward, "Axenfeld-Rieger syndrome in the age of molecular genetics," American Journal of Ophthalmology, vol. 130, no. 1, pp. 107-115, 2000.
    • (2000) American Journal of Ophthalmology , vol.130 , Issue.1 , pp. 107-115
    • Alward, W.L.M.1
  • 3
    • 0020971487 scopus 로고
    • Axenfeld-Rieger syndrome: A theory of mechanism and distinctions from the iridocorneal endothelial syndrome
    • M. B. Shields, "Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome," Transactions of the American Ophthalmological Society, vol. 81, pp. 736-784, 1983.
    • (1983) Transactions of the American Ophthalmological Society , vol.81 , pp. 736-784
    • Shields, M.B.1
  • 5
    • 33644697188 scopus 로고    scopus 로고
    • Axenfeld-Rieger syndrome: Report on dental and craniofacial findings
    • A. K. Jena and O. P. Kharbanda, "Axenfeld-Rieger syndrome: report on dental and craniofacial findings," Journal of Clinical Pediatric Dentistry, vol. 30, no. 1, pp. 83-88, 2005.
    • (2005) Journal of Clinical Pediatric Dentistry , vol.30 , Issue.1 , pp. 83-88
    • Jena, A.K.1    Kharbanda, O.P.2
  • 6
    • 0019512801 scopus 로고
    • Oculocutaneous albinism associated with corneal mesodermal dysgenesis
    • J. R. Lubin, "Oculocutaneous albinism associated with corneal mesodermal dysgenesis," American Journal of Ophthalmology, vol. 91, no. 3, pp. 347-350, 1981.
    • (1981) American Journal of Ophthalmology , vol.91 , Issue.3 , pp. 347-350
    • Lubin, J.R.1
  • 7
    • 1942422639 scopus 로고    scopus 로고
    • A novelmutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome
    • B. P. Brooks, S. E.Moroi, C. A. Downs et al., "A novelmutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome," Ophthalmic Genetics, vol. 25, no. 1, pp. 57-62, 2004.
    • (2004) Ophthalmic Genetics , vol.25 , Issue.1 , pp. 57-62
    • Brooks, B.P.1    Moroi, S.E.2    Downs, C.A.3
  • 9
    • 0013889762 scopus 로고
    • The anterior chamber cleavage syndrome
    • A. B. Reese and R. M. Ellsworth, "The anterior chamber cleavage syndrome," Archives of Ophthalmology, vol. 75, no. 3, pp. 307-318, 1966.
    • (1966) Archives of Ophthalmology , vol.75 , Issue.3 , pp. 307-318
    • Reese, A.B.1    Ellsworth, R.M.2
  • 10
    • 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
    • DOI 10.1093/hmg/6.4.641
    • I. Stoilov, A. N. Akarsu, and M. Sarfarazi, "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," Human Molecular Genetics, vol. 6, no. 4, pp. 641-647, 1997. (Pubitemid 27142117)
    • (1997) Human Molecular Genetics , vol.6 , Issue.4 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 12
    • 12344300314 scopus 로고    scopus 로고
    • Molecular basis of Peters anomaly in Saudi Arabia
    • DOI 10.1080/13816810490902648
    • D. P. Edward, A. Al Rajhi, R. A. Lewis, S. A. Curry, Z. Wang, and B. A. Bejjani, "Molecular basis of Peters anomaly in Saudi Arabia," Ophthalmic Genetics, vol. 25, no. 4, pp. 257-270, 2004. (Pubitemid 40127794)
    • (2004) Ophthalmic Genetics , vol.25 , Issue.4 , pp. 257-270
    • Edward, D.P.1    Al, R.A.2    Lewis, R.A.3    Curry, S.A.4    Wang, Z.5    Bejjani, B.A.6
  • 13
    • 25444504573 scopus 로고    scopus 로고
    • A compound heterozygous change found in Peters' anomaly
    • A. J. Churchill and A. Yeung, "A compound heterozygous change found in Peters' anomaly," Molecular Vision, vol. 11, pp. 66-70, 2005. (Pubitemid 41358307)
    • (2005) Molecular Vision , vol.11 , pp. 66-70
    • Churchill, A.J.1    Yeung, A.2
  • 15
    • 77649241229 scopus 로고    scopus 로고
    • Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients
    • M. Tanwar, T. Dada, R. Sihota, and R. Dada, "Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients," Molecular Vision, vol. 15, pp. 2926-2937, 2009.
    • (2009) Molecular Vision , vol.15 , pp. 2926-2937
    • Tanwar, M.1    Dada, T.2    Sihota, R.3    Dada, R.4
  • 17
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • V. Ramensky, P. Bork, and S. Sunyaev, "Human nonsynonymous SNPs: server and survey," Nucleic Acids Research, vol. 30, no. 17, pp. 3894-3900, 2002. (Pubitemid 35012462)
    • (2002) Nucleic Acids Research , vol.30 , Issue.17 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 18
    • 0034191958 scopus 로고    scopus 로고
    • Towards a structural basis of human non-synonymous single nucleotide polymorphisms
    • DOI 10.1016/S0168-9525(00)01988-0, PII S0168952500019880
    • S. Sunyaev, V. Ramensky, and P. Bork, "Towards a structural basis of human non-synonymous single nucleotide polymorphisms," Trends in Genetics, vol. 16, no. 5, pp. 198-200, 2000. (Pubitemid 30216541)
    • (2000) Trends in Genetics , vol.16 , Issue.5 , pp. 198-200
    • Sunyaev, S.1    Ramensky, V.2    Bork, P.3
  • 19
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • P. Kumar, S. Henikoff, and P. C. Ng, "Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm," Nature Protocols, vol. 4, no. 7, pp. 1073-1082, 2009.
    • (2009) Nature Protocols , vol.4 , Issue.7 , pp. 1073-1082
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 20
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • P. C. Ng and S.Henikoff, "SIFT: predicting amino acid changes that affect protein function," Nucleic Acids Research, vol. 31, no. 13, pp. 3812-3814, 2003.
    • (2003) Nucleic Acids Research , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 22
    • 4744374416 scopus 로고    scopus 로고
    • The characterisation and functional analysis of the human glyoxalase-1 gene using methods of bioinformatics
    • C. P. Gale and P. J. Grant, "The characterisation and functional analysis of the human glyoxalase-1 gene using methods of bioinformatics," Gene, vol. 340, no. 2, pp. 251-260, 2004.
    • (2004) Gene , vol.340 , Issue.2 , pp. 251-260
    • Gale, C.P.1    Grant, P.J.2
  • 24
    • 0141765727 scopus 로고    scopus 로고
    • Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients
    • DOI 10.1167/iovs.02-0945
    • A. B. M. Reddy, S. G. Panicker, A. K. Mandal, S. E. Hasnain, and D. Balasubramanian, "Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients," Investigative Ophthalmology and Visual Science, vol. 44, no. 10, pp. 4200-4203, 2003. (Pubitemid 37186251)
    • (2003) Investigative Ophthalmology and Visual Science , vol.44 , Issue.10 , pp. 4200-4203
    • Reddy, A.B.M.1    Panicker, S.G.2    Mandal, A.K.3    Hasnain, S.E.4    Balasubramanian, D.5
  • 25
    • 67650093875 scopus 로고    scopus 로고
    • Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
    • M. Tanwar, T. Dada, R. Sihota, T. K. Das, U. Yadav, and R. Dada, "Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients," Molecular Vision, vol. 15, pp. 1200-1209, 2009.
    • (2009) Molecular Vision , vol.15 , pp. 1200-1209
    • Tanwar, M.1    Dada, T.2    Sihota, R.3    Das, T.K.4    Yadav, U.5    Dada, R.6
  • 28
    • 17344362827 scopus 로고    scopus 로고
    • Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
    • B. A. Bejjani, R. A. Lewis, K. F. Tomey et al., "Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia," American Journal of Human Genetics, vol. 62, no. 2, pp. 325-333, 1998.
    • (1998) American Journal of Human Genetics , vol.62 , Issue.2 , pp. 325-333
    • Bejjani, B.A.1    Lewis, R.A.2    Tomey, K.F.3
  • 29
    • 2442723700 scopus 로고    scopus 로고
    • Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
    • M. Plášilová, I. Stoilov, M. Sarfarazi, L. Kádasi, E. Feráková, and V. Ferák, "Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma," Journal of Medical Genetics, vol. 36, no. 4, pp. 290-294, 1999. (Pubitemid 29161060)
    • (1999) Journal of Medical Genetics , vol.36 , Issue.4 , pp. 290-294
    • Plasilova, M.1    Stoilov, I.2    Sarfarazi, M.3    Kadasi, L.4    Ferakova, E.5    Ferak, V.6
  • 30
    • 0026744568 scopus 로고
    • Cytochrome P450 2E1 and 2A6 enzymes as major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes
    • H. Yamazaki, Y. Inui, C.-H. Yun, F. P. Guengerich, and T. Shimada, "Cytochrome P450 2E1 and 2A6 enzymes as major catalysts for metabolic activation of N-nitrosodialkylamines and tobacco-related nitrosamines in human liver microsomes," Carcinogenesis, vol. 13, no. 10, pp. 1789-1794, 1992.
    • (1992) Carcinogenesis , vol.13 , Issue.10 , pp. 1789-1794
    • Yamazaki, H.1    Inui, Y.2    Yun, C.-H.3    Guengerich, F.P.4    Shimada, T.5
  • 31
    • 0026376260 scopus 로고
    • Proposed role of drug-metabolizing enzymes: Regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions
    • D. W. Nebert, "Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions," Molecular Endocrinology, vol. 5, no. 9, pp. 1203-1214, 1991.
    • (1991) Molecular Endocrinology , vol.5 , Issue.9 , pp. 1203-1214
    • Nebert, D.W.1
  • 32
    • 0032744474 scopus 로고    scopus 로고
    • Retinoid metabolizing enzymes in development
    • E. C. Swindell and G. Eichele, "Retinoid metabolizing enzymes in development," BioFactors, vol. 10, no. 2-3, pp. 85-89, 1999.
    • (1999) BioFactors , vol.10 , Issue.2-3 , pp. 85-89
    • Swindell, E.C.1    Eichele, G.2
  • 33
    • 0034057188 scopus 로고    scopus 로고
    • Biosynthesis of all-trans-retinoic acid from all-trans-retinol: Catalysis of all-trans-retinol oxidation by human P-450 cytochromes
    • H. Chen, W. N. Howald, and M. R. Juchau, "Biosynthesis of all-trans-retinoic acid from all-trans-retinol: catalysis of all-trans-retinol oxidation by human P-450 cytochromes," Drug Metabolism and Disposition, vol. 28, no. 3, pp. 315-322, 2000. (Pubitemid 30137056)
    • (2000) Drug Metabolism and Disposition , vol.28 , Issue.3 , pp. 315-322
    • Chen, H.1    Howald, W.N.2    Juchau, M.R.3
  • 34
    • 0034865641 scopus 로고    scopus 로고
    • Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
    • K. G. Michels-Rautenstrauss, C. Y. Mardin, M. Zenker, N. Jordancand, G.-C. Gusek-Schneider, and B.W. Rautenstrauss, "Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene," Journal of Glaucoma, vol. 10, no. 4, pp. 354-357, 2001. (Pubitemid 32781353)
    • (2001) Journal of Glaucoma , vol.10 , Issue.4 , pp. 354-357
    • Michels-Rautenstrauss, K.G.1    Mardin, C.Y.2    Zenker, M.3    Jordancand, N.4    Gusek-Schneider, G.-C.5    Rautenstrauss, B.W.6
  • 35
    • 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
    • DOI 10.1093/hmg/6.4.641
    • I. Stoilov, A. N. Akarsu, and M. Sarfarazi, "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," Human Molecular Genetics, vol. 6, no. 4, pp. 641-647, 1997. (Pubitemid 27142117)
    • (1997) Human Molecular Genetics , vol.6 , Issue.4 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 36
    • 55749105894 scopus 로고    scopus 로고
    • Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma
    • D. Choudhary, I. Jansson, M. Sarfarazi, and J. B. Schenkman, "Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma," Pharmacogenetics and Genomics, vol. 18, no. 8, pp. 665-676, 2008.
    • (2008) Pharmacogenetics and Genomics , vol.18 , Issue.8 , pp. 665-676
    • Choudhary, D.1    Jansson, I.2    Sarfarazi, M.3    Schenkman, J.B.4
  • 37
    • 0027376024 scopus 로고
    • Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s
    • S. Yamazaki, K. Sato, K. Suhara, M. Sakaguchi, K. Mihara, and T. Omura, "Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s," Journal of Biochemistry, vol. 114, no. 5, pp. 652-657, 1993. (Pubitemid 23339342)
    • (1993) Journal of Biochemistry , vol.114 , Issue.5 , pp. 652-657
    • Yamazaki, S.1    Sato, K.2    Suhara, K.3    Sakaguchi, M.4    Mihara, K.5    Omura, T.6
  • 40
    • 0029762015 scopus 로고    scopus 로고
    • A second locus for Rieger syndrome maps to chromosome 13q14
    • J. C. Phillips, E. A. del Bono, J. L. Haines et al., "A second locus for Rieger syndrome maps to chromosome 13q14," American Journal of Human Genetics, vol. 59, no. 3, pp. 613-619, 1996.
    • (1996) American Journal of Human Genetics , vol.59 , Issue.3 , pp. 613-619
    • Phillips, J.C.1    Del Bono, E.A.2    Haines, J.L.3
  • 42
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peter's anomaly
    • I. M. Hanson, J. M. Fletcher, T. Jordan et al., "Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peter's anomaly," Nature Genetics, vol. 6, no. 2, pp. 168-173, 1994.
    • (1994) Nature Genetics , vol.6 , Issue.2 , pp. 168-173
    • Hanson, I.M.1    Fletcher, J.M.2    Jordan, T.3
  • 43
    • 0037373710 scopus 로고    scopus 로고
    • A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
    • R. A. Honkanen, D. Y. Nishimura, R. E. Swiderski et al., "A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene," American Journal of Ophthalmology, vol. 135, no. 3, pp. 368-375, 2003.
    • (2003) American Journal of Ophthalmology , vol.135 , Issue.3 , pp. 368-375
    • Honkanen, R.A.1    Nishimura, D.Y.2    Swiderski, R.E.3
  • 44
    • 17344368672 scopus 로고    scopus 로고
    • The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    • D. Y. Nishimura, R. E. Swiderski, W. L.M. Alward et al., "The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25," Nature Genetics, vol. 19, no. 2, pp. 140-147, 1998.
    • (1998) Nature Genetics , vol.19 , Issue.2 , pp. 140-147
    • Nishimura, D.Y.1    Swiderski, R.E.2    Alward, W.L.M.3
  • 46
    • 0033362155 scopus 로고    scopus 로고
    • Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies
    • DOI 10.1086/302529
    • N. Azuma, Y. Yamaguchi, H. Handa, M. Hayakawa, A. Kanai, and M. Yamada, "Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies," American Journal of Human Genetics, vol. 65, no. 3, pp. 656-663, 1999. (Pubitemid 30468709)
    • (1999) American Journal of Human Genetics , vol.65 , Issue.3 , pp. 656-663
    • Azuma, N.1    Yamaguchi, Y.2    Handa, H.3    Hayakawa, M.4    Kanai, A.5    Yamada, M.6
  • 47
    • 1942453387 scopus 로고    scopus 로고
    • A novel mutation in the alternative splice region of the PAK6 gene in a patient with Peters' anomaly [6]
    • Y. Nanjo, S. Kawasaki, K. Mari, C. Sotozono, T. Inatomi, and S. Kinoshita, "A novel mutation in the alternative splice region of the PAK6 gene in a patient with Peters' anomaly," British Journal of Ophthalmology, vol. 88, no. 5, pp. 720-721, 2004. (Pubitemid 38526664)
    • (2004) British Journal of Ophthalmology , vol.88 , Issue.5 , pp. 720-721
    • Nanjo, Y.1    Kawasaki, S.2    Mari, K.3    Sotozono, C.4    Inatomi, T.5    Kinoshita, S.6


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