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Volumn 20, Issue 12, 2011, Pages 2482-2494

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AFRICAN AMERICAN; ARTICLE; CHROMOSOME 12Q; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FAMILY HISTORY; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE LOCUS; GENETIC LINKAGE; HUMAN; LOW TENSION GLAUCOMA; MALE; PEDIGREE; PRIORITY JOURNAL; RNA ANALYSIS;

EID: 79956006929     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr123     Document Type: Article
Times cited : (179)

References (53)
  • 4
    • 33644655886 scopus 로고    scopus 로고
    • The number of people with glaucoma worldwide in 2010 and 2020
    • Quigley, H.A. and Broman, A.T. (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br. J. Ophthalmol., 90, 262-267.
    • (2006) Br. J. Ophthalmol. , vol.90 , pp. 262-267
    • Quigley, H.A.1    Broman, A.T.2
  • 6
    • 56149117842 scopus 로고    scopus 로고
    • Glaucoma genetics
    • Challa, P. (2008) Glaucoma genetics. Int. Ophthal. Clin., 48, 73-94.
    • (2008) Int. Ophthal. Clin. , vol.48 , pp. 73-94
    • Challa, P.1
  • 8
    • 34249787589 scopus 로고    scopus 로고
    • Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene
    • Fan, B.J., Ko, W.C., Wang, D.Y., Canlas, O., Ritch, R., Lam, D.S. and Pang, C.P. (2007) Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. Mol. Vis., 13, 779-784.
    • (2007) Mol. Vis. , vol.13 , pp. 779-784
    • Fan, B.J.1    Ko, W.C.2    Wang, D.Y.3    Canlas, O.4    Ritch, R.5    Lam, D.S.6    Pang, C.P.7
  • 16
    • 0348225300 scopus 로고    scopus 로고
    • Optineurin in primary open angle glaucoma
    • Sarfarazi, M. and Rezaie, T. (2003) Optineurin in primary open angle glaucoma. Ophthalmol. Clin. North Am., 16, 529-541.
    • (2003) Ophthalmol. Clin. North Am. , vol.16 , pp. 529-541
    • Sarfarazi, M.1    Rezaie, T.2
  • 18
    • 33746293357 scopus 로고    scopus 로고
    • A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant
    • Hewitt, A.W., Dimasi, D.P., Mackey, D.A. and Craig, J.E. (2006) A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. Am. J. Ophthalmol., 142, 324-325.
    • (2006) Am. J. Ophthalmol. , vol.142 , pp. 324-325
    • Hewitt, A.W.1    Dimasi, D.P.2    Mackey, D.A.3    Craig, J.E.4
  • 22
    • 77956970117 scopus 로고    scopus 로고
    • Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population
    • Vithana, E.N., Nongpiur, M.E., Venkataraman, D., Chan, S.H., Mavinahalli, J. and Aung, T. (2010) Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population. Mol. Vis., 16, 1640-1645.
    • (2010) Mol. Vis. , vol.16 , pp. 1640-1645
    • Vithana, E.N.1    Nongpiur, M.E.2    Venkataraman, D.3    Chan, S.H.4    Mavinahalli, J.5    Aung, T.6
  • 23
    • 77958149448 scopus 로고    scopus 로고
    • Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population
    • Rao, K.N., Kaur, I., Parikh, R.S., Mandal, A.K., Chandrasekhar, G., Thomas, R. and Chakrabarti, S. (2010) Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population. Invest. Ophthalmol. Vis. Sci., 51, 4937-4941.
    • (2010) Invest. Ophthalmol. Vis. Sci. , vol.51 , pp. 4937-4941
    • Rao, K.N.1    Kaur, I.2    Parikh, R.S.3    Mandal, A.K.4    Chandrasekhar, G.5    Thomas, R.6    Chakrabarti, S.7
  • 24
    • 77649228050 scopus 로고    scopus 로고
    • No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma
    • Author reply, 500
    • Liu, Y., Liu, W., Crooks, K., Schmidt, S., Allingham, R.R. and Hauser, M.A. (2010) No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am. J. Hum. Genet., 86, 498-499; Author reply, 500.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 498-499
    • Liu, Y.1    Liu, W.2    Crooks, K.3    Schmidt, S.4    Allingham, R.R.5    Hauser, M.A.6
  • 26
    • 77954349639 scopus 로고    scopus 로고
    • Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility
    • Meguro, A., Inoko, H., Ota, M., Mizuki, N. and Bahram, S. (2010) Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. Ophthalmology, 117, 1331.e5-1338.e5.
    • (2010) Ophthalmology , vol.117
    • Meguro, A.1    Inoko, H.2    Ota, M.3    Mizuki, N.4    Bahram, S.5
  • 27
    • 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, A.N. and Sarfarazi, M. (1997) 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., 6, 641-647.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 32
    • 22244453416 scopus 로고    scopus 로고
    • A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
    • Nannya, Y., Sanada, M., Nakazaki, K., Hosoya, N., Wang, L., Hangaishi, A., Kurokawa, M., Chiba, S., Bailey, D.K., Kennedy, G.C. et al. (2005) A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res., 65, 6071-6079.
    • (2005) Cancer Res , vol.65 , pp. 6071-6079
    • Nannya, Y.1    Sanada, M.2    Nakazaki, K.3    Hosoya, N.4    Wang, L.5    Hangaishi, A.6    Kurokawa, M.7    Chiba, S.8    Bailey, D.K.9    Kennedy, G.C.10
  • 33
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S.F., Hakonarson, H. and Bucan, M. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res., 17, 1665-1674.
    • (2007) Genome Res. , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.6    Hakonarson, H.7    Bucan, M.8
  • 35
    • 0024421644 scopus 로고
    • An autosomal dominant form of low-tension glaucoma
    • Bennett, S.R., Alward, W.L. and Folberg, R. (1989) An autosomal dominant form of low-tension glaucoma. Am. J. Ophthalmol., 108, 238-244.
    • (1989) Am. J. Ophthalmol. , vol.108 , pp. 238-244
    • Bennett, S.R.1    Alward, W.L.2    Folberg, R.3
  • 37
    • 34247108138 scopus 로고    scopus 로고
    • Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping
    • Honkanen, R.A., Jampol, L.M., Fingert, J.H., Moore, M.D., Taylor, C.M., Stone, E.M. and Alward, W.L. (2007) Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. Am. J. Ophthalmol., 143, 788-794.
    • (2007) Am. J. Ophthalmol. , vol.143 , pp. 788-794
    • Honkanen, R.A.1    Jampol, L.M.2    Fingert, J.H.3    Moore, M.D.4    Taylor, C.M.5    Stone, E.M.6    Alward, W.L.7
  • 43
    • 0027256438 scopus 로고
    • Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation
    • Miller, M.W., Duhl, D.M., Vrieling, H., Cordes, S.P., Ollmann, M.M., Winkes, B.M. and Barsh, G.S. (1993) Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev., 7, 454-467.
    • (1993) Genes Dev. , vol.7 , pp. 454-467
    • Miller, M.W.1    Duhl, D.M.2    Vrieling, H.3    Cordes, S.P.4    Ollmann, M.M.5    Winkes, B.M.6    Barsh, G.S.7
  • 44
    • 0033485542 scopus 로고    scopus 로고
    • NF-kappaB activation by a signaling complex containing TRAF2, TANK and TBK1, a novel IKK-related kinase
    • Pomerantz, J.L. and Baltimore, D. (1999) NF-kappaB activation by a signaling complex containing TRAF2, TANK and TBK1, a novel IKK-related kinase. EMBO J., 18, 6694-6704.
    • (1999) EMBO J. , vol.18 , pp. 6694-6704
    • Pomerantz, J.L.1    Baltimore, D.2
  • 45
    • 40149097099 scopus 로고    scopus 로고
    • Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma
    • Morton, S., Hesson, L., Peggie, M. and Cohen, P. (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett., 582, 997-1002.
    • (2008) FEBS Lett. , vol.582 , pp. 997-1002
    • Morton, S.1    Hesson, L.2    Peggie, M.3    Cohen, P.4
  • 47
    • 0021980329 scopus 로고
    • Isolation of DNA from biological specimens without extraction with phenol
    • Buffone, G.J. and Darlinton, G.J. (1985) Isolation of DNA from biological specimens without extraction with phenol. Clin. Chem., 31, 164-165.
    • (1985) Clin. Chem. , vol.31 , pp. 164-165
    • Buffone, G.J.1    Darlinton, G.J.2
  • 49
    • 0036338150 scopus 로고    scopus 로고
    • Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
    • Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
    • (2002) Nat. Genet. , vol.30 , pp. 97-101
    • Abecasis, G.R.1    Cherny, S.S.2    Cookson, W.O.3    Cardon, L.R.4
  • 52
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop, G.M. and Lalouel, J.M. (1984) Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet., 36, 460-465.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 53
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam, B.J., Caetano-Anolles, G. and Gresshoff, P.M. (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem., 196, 80-83.
    • (1991) Anal. Biochem. , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3


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