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Volumn 62, Issue 2, 1998, Pages 325-333

Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; DNA;

EID: 17344362827     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301725     Document Type: Article
Times cited : (274)

References (33)
  • 4
    • 0029960403 scopus 로고    scopus 로고
    • A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma
    • Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, et al (1996) A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma. J Glaucoma 5:416-421
    • (1996) J Glaucoma , vol.5 , pp. 416-421
    • Anderson, K.L.1    Lewis, R.A.2    Bejjani, B.A.3    Baird, L.4    Otterud, B.5    Tomey, K.F.6    Astle, W.F.7
  • 5
    • 85030304874 scopus 로고
    • Congenital glaucoma
    • Buyse ML (ed) Blackwell Scientific, Cambridge
    • Buyse ML (1990) Congenital glaucoma. In: Buyse ML (ed) Birth defects encyclopedia. Blackwell Scientific, Cambridge, pp 782-783
    • (1990) Birth Defects Encyclopedia , pp. 782-783
    • Buyse, M.L.1
  • 6
    • 0020592326 scopus 로고
    • Primary infantile glaucoma (congenital glaucoma)
    • deLuise VP, Anderson DR (1983) Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 28:1-19
    • (1983) Surv Ophthalmol , vol.28 , pp. 1-19
    • DeLuise, V.P.1    Anderson, D.R.2
  • 7
    • 0002394285 scopus 로고
    • Epidemiology and pathophysiology of congenital glaucoma
    • Ritch R, Shields MB, Krupin T (eds) CV Mosby, St Louis
    • Dickens CJ, Hoskins HD Jr (1989) Epidemiology and pathophysiology of congenital glaucoma. In: Ritch R, Shields MB, Krupin T (eds) The glaucomas. CV Mosby, St Louis, pp 761-772
    • (1989) The Glaucomas , pp. 761-772
    • Dickens, C.J.1    Hoskins Jr., H.D.2
  • 8
    • 0019291895 scopus 로고
    • Congenital glaucoma and its inheritance
    • François J (1980) Congenital glaucoma and its inheritance. Ophthalmologica 181:61-73
    • (1980) Ophthalmologica , vol.181 , pp. 61-73
    • François, J.1
  • 10
    • 0024236331 scopus 로고
    • The molecular biology of cytochrome P450
    • Gonzalez FJ (1989) The molecular biology of cytochrome P450. Pharmacol Rev 40:243-288
    • (1989) Pharmacol Rev , vol.40 , pp. 243-288
    • Gonzalez, F.J.1
  • 13
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 14
    • 0028128537 scopus 로고
    • Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
    • Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet 7:108-112
    • (1994) Nature Genet , vol.7 , pp. 108-112
    • Leppert, M.1    Baird, L.2    Anderson, K.L.3    Otterud, B.4    Lupski, J.R.5    Lewis, R.A.6
  • 15
    • 0025323589 scopus 로고
    • Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q
    • Lewis RA, Otterud B, Stauffer D, Lalouel J-M, Leppert M (1990) Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics 7:250-256
    • (1990) Genomics , vol.7 , pp. 250-256
    • Lewis, R.A.1    Otterud, B.2    Stauffer, D.3    Lalouel, J.-M.4    Leppert, M.5
  • 16
    • 0028279517 scopus 로고
    • Genetic clues to glaucoma's secrets: The L Edward Jackson Memorial Lecture. Part 2
    • Lichter PR (1994) Genetic clues to glaucoma's secrets: The L Edward Jackson Memorial Lecture. Part 2. Am J Ophthalmol 117:706-727
    • (1994) Am J Ophthalmol , vol.117 , pp. 706-727
    • Lichter, P.R.1
  • 17
    • 0028343233 scopus 로고
    • Automated construction of genetic linkage maps using an expert system (Multimap): A human genome linkage map
    • Matise TC, Perlin M, Chakravarti A (1994) Automated construction of genetic linkage maps using an expert system (Multimap): a human genome linkage map. Nat Genet 6: 384-390
    • (1994) Nat Genet , vol.6 , pp. 384-390
    • Matise, T.C.1    Perlin, M.2    Chakravarti, A.3
  • 19
    • 0029003117 scopus 로고
    • A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q
    • Morissette J, Côté G, Anctil J-L, Plante M, Amyot M, Héon E, Trope GE, et al (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet 56:1431-1442
    • (1995) Am J Hum Genet , vol.56 , pp. 1431-1442
    • Morissette, J.1    Côté, G.2    Anctil, J.-L.3    Plante, M.4    Amyot, M.5    Héon, E.6    Trope, G.E.7
  • 21
    • 0025714483 scopus 로고
    • Growth signal pathways
    • Nebert DW (1990) Growth signal pathways. Nature 347: 709-710
    • (1990) Nature , vol.347 , pp. 709-710
    • Nebert, D.W.1
  • 22
    • 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
    • Nebert DW (1991) Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions. Mol Endocrinol 5:1203-1214
    • (1991) Mol Endocrinol , vol.5 , pp. 1203-1214
    • Nebert, D.W.1
  • 24
    • 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, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, et al (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30:171-177
    • (1995) Genomics , vol.30 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3    Turacli, M.E.4    Aktan, S.G.5    Barsoum-Homsy, M.6    Chevrette, L.7
  • 25
    • 0028000502 scopus 로고
    • Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
    • Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, et al (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3:1331-1335
    • (1994) Hum Mol Genet , vol.3 , pp. 1331-1335
    • Sheffield, V.C.1    Carmi, R.2    Kwitek-Black, A.3    Rokhlina, T.4    Nishimura, D.5    Duyk, G.M.6    Elbedour, K.7
  • 27
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P450B1 (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 (1997) Identification of three different truncating mutations in cytochrome P450B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6:641-647
    • (1997) Hum Mol Genet , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 29
    • 0025934316 scopus 로고
    • Targets for dioxin: Genes for plasminogen activator inhibitor-2 and interleukin-1b
    • Sutter TR, Guzman K, Dold KM, Greenlee WF (1991) Targets for dioxin: genes for plasminogen activator inhibitor-2 and interleukin-1b. Science 254:415-417
    • (1991) Science , vol.254 , pp. 415-417
    • Sutter, T.R.1    Guzman, K.2    Dold, K.M.3    Greenlee, W.F.4
  • 30
    • 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
    • Sutter TR, Tang YM, Hayes CL, Wo Y-YP, Jabs EW, Li X, Yin H, et al (1994) 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 269:13092-13099
    • (1994) J Biol Chem , vol.269 , pp. 13092-13099
    • Sutter, T.R.1    Tang, Y.M.2    Hayes, C.L.3    Wo, Y.-Y.P.4    Jabs, E.W.5    Li, X.6    Yin, H.7
  • 32
    • 0029163591 scopus 로고
    • A collection of ordered tetranucleotide-repeat markers from the human genome
    • Utah Marker Development Group, The (1995) A collection of ordered tetranucleotide-repeat markers from the human genome. Am J Hum Genet 57:619-628
    • (1995) Am J Hum Genet , vol.57 , pp. 619-628
  • 33
    • 0028332417 scopus 로고
    • Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees
    • Wiggs JL, Haines JL, Paglinauan C, Fine A, Sporn C, Lou D (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. Genomics 21: 299-303
    • (1994) Genomics , vol.21 , pp. 299-303
    • Wiggs, J.L.1    Haines, J.L.2    Paglinauan, C.3    Fine, A.4    Sporn, C.5    Lou, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.