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Volumn 16, Issue , 2010, Pages 1996-2006

MYOC and FOXC1 gene analysis in primary congenital glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; CYTOCHROME P450 1B1; CYTOSINE; DNA; GUANINE; LYSINE; MYOCILIN; THYMINE; TRANSCRIPTION FACTOR FOXC1; TYROSINE;

EID: 78149487832     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (21)

References (43)
  • 1
    • 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
  • 2
    • 0033926590 scopus 로고    scopus 로고
    • Molecular genetics of primary congenital glaucoma
    • Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000; 14:422-8.
    • (2000) Eye , vol.14 , pp. 422-428
    • Sarfarazi, M.1    Stoilov, I.2
  • 3
    • 0019936088 scopus 로고
    • Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset
    • Gencik A, Gencikova A, Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982; 61:193-7.
    • (1982) Hum Genet , vol.61 , pp. 193-197
    • Gencik, A.1    Gencikova, A.2    Ferak, V.3
  • 4
    • 0032040349 scopus 로고    scopus 로고
    • Populationbased assessment of childhood blindness in southern India
    • Dandona L, Williams JD, Williams BC, Rao GN. Populationbased assessment of childhood blindness in southern India. Arch Ophthalmol 1998; 116:545-6.
    • (1998) Arch Ophthalmol , vol.116 , pp. 545-546
    • Dandona, L.1    Williams, J.D.2    Williams, B.C.3    Rao, G.N.4
  • 7
    • 34548368522 scopus 로고    scopus 로고
    • The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3
    • May 5-10; Fort Lauderdale (FL)
    • Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for primary congenital glaucoma (PCG) maps to chromosome 14q24.3. ARVO Annual Meeting; 2002 May 5-10; Fort Lauderdale (FL).
    • (2002) ARVO Annual Meeting
    • Stoilov, I.R.1    Sarfarazi, M.2
  • 8
    • 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
  • 9
    • 78149489204 scopus 로고    scopus 로고
    • The human gene mutation database, Cardiff, Wales, UK, Accessed 11 August
    • The human gene mutation database. The Institute of Medical Genetics, Cardiff, Wales, UK (http://www.hgmd.cf.ac.uk/ac/gene.php?gene_CYP1B1 Accessed 11 August 2010.
    • (2010) The Institute of Medical Genetics
  • 10
    • 2442723700 scopus 로고    scopus 로고
    • Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
    • Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4.
    • (1999) J Med Genet , vol.36 , pp. 290-294
    • Plasilova, M.1    Stoilov, I.2    Sarfarazi, M.3    Kadasi, L.4    Ferakova, E.5    Ferak, V.6
  • 11
    • 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
  • 12
    • 67650093875 scopus 로고    scopus 로고
    • Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
    • Tanwar M, Dada T, Sihota R, Yadav U, Das TK, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis 2009; 15:1200-9.
    • (2009) Mol Vis , vol.15 , pp. 1200-1209
    • Tanwar, M.1    Dada, T.2    Sihota, R.3    Yadav, U.4    Das, T.K.5    Dada, R.6
  • 13
    • 77649241229 scopus 로고    scopus 로고
    • Identification of four novel CYP1B1 mutations (p.I94X, p.H279D, p.Q340H and p.K433K) in Congenital Glaucoma patients
    • Tanwar M, Dada T, Sihota R, Dada R. Identification of four novel CYP1B1 mutations (p.I94X, p.H279D, p.Q340H and p.K433K) in Congenital Glaucoma patients. Mol Vis 2009; 15:2926-37.
    • (2009) Mol Vis , vol.15 , pp. 2926-2937
    • Tanwar, M.1    Dada, T.2    Sihota, R.3    Dada, R.4
  • 17
    • 0031149050 scopus 로고    scopus 로고
    • A novel myocin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression and chromosomal mapping
    • Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N. A novel myocin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression and chromosomal mapping. Genomics 1997; 41:360-9.
    • (1997) Genomics , vol.41 , pp. 360-369
    • Kubota, R.1    Noda, S.2    Wang, Y.3    Minoshima, S.4    Asakawa, S.5    Kudoh, J.6    Mashima, Y.7    Oguchi, Y.8    Shimizu, N.9
  • 18
    • 0034014021 scopus 로고    scopus 로고
    • Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye
    • Karali A, Russell P, Stefani FH, Tamm ER. Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye. Invest Ophthalmol Vis Sci 2000; 41:729-40.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 729-740
    • Karali, A.1    Russell, P.2    Stefani, F.H.3    Tamm, E.R.4
  • 22
    • 0037379295 scopus 로고    scopus 로고
    • PITs and FOXes in ocular genetics: The Cogan lecture
    • Walter MA. PITs and FOXes in ocular genetics: The Cogan lecture. Invest Ophthalmol Vis Sci 2003; 44:1402-5.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1402-1405
    • Walter, M.A.1
  • 23
    • 11144294168 scopus 로고    scopus 로고
    • Anterior segment development relevant to glaucoma
    • Gould DB, Smith RS, John SW. Anterior segment development relevant to glaucoma. Int J Dev Biol 2004; 48:1015-29.
    • (2004) Int J Dev Biol , vol.48 , pp. 1015-1029
    • Gould, D.B.1    Smith, R.S.2    John, S.W.3
  • 24
    • 0035789569 scopus 로고    scopus 로고
    • Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR
    • Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishimura DY, Stone EM, Sheffield VC, Clark AF. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Mol Vis 2001; 7:89-94.
    • (2001) Mol Vis , vol.7 , pp. 89-94
    • Wang, W.H.1    McNatt, L.G.2    Shepard, A.R.3    Jacobson, N.4    Nishimura, D.Y.5    Stone, E.M.6    Sheffield, V.C.7    Clark, A.F.8
  • 26
    • 33746349553 scopus 로고    scopus 로고
    • Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma
    • Zhuo YH, Wang M, Wei YT, Huang YL, Ge J. Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. Chin Med J (Engl) 2006; 119:1210-4.
    • (2006) Chin Med J (Engl) , vol.119 , pp. 1210-1214
    • Zhuo, Y.H.1    Wang, M.2    Wei, Y.T.3    Huang, Y.L.4    Ge, J.5
  • 27
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002; 30:3894-900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 29
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4:1073-81.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 30
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003; 31:3812-4.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 33
    • 0032972164 scopus 로고    scopus 로고
    • Identification and characterization of the rat M1 muscarinic receptor promoter
    • Klett CP, Bonner TI. Identification and characterization of the rat M1 muscarinic receptor promoter. J Neurochem 1999; 72:900-9.
    • (1999) J Neurochem , vol.72 , pp. 900-909
    • Klett, C.P.1    Bonner, T.I.2
  • 37
    • 0013889762 scopus 로고    scopus 로고
    • The anterior chamber cleavage syndrome
    • Reese AB, Ellsworth RM. The anterior chamber cleavage syndrome. Arch Ophthalmol 1996; 75:307-18.
    • (1996) Arch Ophthalmol , vol.75 , pp. 307-318
    • Reese, A.B.1    Ellsworth, R.M.2
  • 38
    • 0037092595 scopus 로고    scopus 로고
    • Molecular genetics of Axenfeld-Rieger malformations
    • Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 2002; 11:1177-84.
    • (2002) Hum Mol Genet , vol.11 , pp. 1177-1184
    • Lines, M.A.1    Kozlowski, K.2    Walter, M.A.3
  • 40
    • 33846907614 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations
    • Strungaru MH, Dinu I, Walter MA. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci 2007; 48:228-37.
    • (2007) Invest Ophthalmol Vis Sci , vol.48 , pp. 228-237
    • Strungaru, M.H.1    Dinu, I.2    Walter, M.A.3
  • 42
    • 28044436937 scopus 로고    scopus 로고
    • The Indian Genome Variation database (IGVdb): A project overview
    • The Indian Genome Variation Consortium
    • The Indian Genome Variation Consortium. The Indian Genome Variation database (IGVdb): a project overview. Hum Genet 2005; 118:1-11.
    • (2005) Hum Genet , vol.118 , pp. 1-11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.