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Volumn 119, Issue , 2014, Pages 1-7

Chromosome 10q26 locus and age-related macular degeneration: A progress update

Author keywords

Age related macular degeneration; ARMS2; Gene annotation; HTRA1; Indel; PLEKHA1; Promoter; Single nucleotide polymorphism; Transcript splice variants

Indexed keywords

AGE RELATED MACULOPATHY SUSCEPTIBILITY 2; HIGH TEMPERATURE REQUIREMENT A SERINE PEPTIDASE 1; PEPTIDES AND PROTEINS; PLECKSTRIN HOMOLOGY DOMAIN CONTAINING FAMILY A MEMBER 1; UNCLASSIFIED DRUG;

EID: 84890216232     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2013.11.009     Document Type: Review
Times cited : (24)

References (77)
  • 1
    • 84863845318 scopus 로고    scopus 로고
    • Mechanisms of age-related macular degeneration
    • Ambati J., Fowler B.J. Mechanisms of age-related macular degeneration. Neuron 2012, 75:26-39.
    • (2012) Neuron , vol.75 , pp. 26-39
    • Ambati, J.1    Fowler, B.J.2
  • 2
    • 70449637235 scopus 로고    scopus 로고
    • Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration
    • Andreoli M.T., et al. Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration. Am. J. Ophthalmol. 2009, 148:869-874.
    • (2009) Am. J. Ophthalmol. , vol.148 , pp. 869-874
    • Andreoli, M.T.1
  • 4
    • 0037179864 scopus 로고    scopus 로고
    • The HtrA1 serine protease is down-regulated during human melanoma progression and represses growth of metastatic melanoma cells
    • Baldi A., et al. The HtrA1 serine protease is down-regulated during human melanoma progression and represses growth of metastatic melanoma cells. Oncogene 2002, 21:6684-6688.
    • (2002) Oncogene , vol.21 , pp. 6684-6688
    • Baldi, A.1
  • 5
    • 69249221570 scopus 로고    scopus 로고
    • Multilocus analysis of age-related macular degeneration
    • Bergeron-Sawitzke J., et al. Multilocus analysis of age-related macular degeneration. Eur. J. Hum. Genet. 2009, 17:1190-1199.
    • (2009) Eur. J. Hum. Genet. , vol.17 , pp. 1190-1199
    • Bergeron-Sawitzke, J.1
  • 6
    • 38849117246 scopus 로고    scopus 로고
    • RNA-protein interactions and control of mRNA stability in neurons
    • Bolognani F., Perrone-Bizzozero N.I. RNA-protein interactions and control of mRNA stability in neurons. J.Neurosci. Res. 2008, 86:481-489.
    • (2008) J.Neurosci. Res. , vol.86 , pp. 481-489
    • Bolognani, F.1    Perrone-Bizzozero, N.I.2
  • 7
    • 84873314450 scopus 로고    scopus 로고
    • ARMS2 increases the risk of early and late age-related macular degeneration in the European eye study
    • Chakravarthy U., et al. ARMS2 increases the risk of early and late age-related macular degeneration in the European eye study. Ophthalmology 2013, 120:342-348.
    • (2013) Ophthalmology , vol.120 , pp. 342-348
    • Chakravarthy, U.1
  • 8
    • 31144465926 scopus 로고    scopus 로고
    • Hearing silence: non-neutral evolution at synonymous sites in mammals
    • Chamary J.V., et al. Hearing silence: non-neutral evolution at synonymous sites in mammals. Nat. Rev. Genet. 2006, 2:98-108.
    • (2006) Nat. Rev. Genet. , vol.2 , pp. 98-108
    • Chamary, J.V.1
  • 9
    • 47749112778 scopus 로고    scopus 로고
    • Human HtrA1 in the archived eyes with age-related macular degeneration
    • Discussion 97-8
    • Chan C.C., et al. Human HtrA1 in the archived eyes with age-related macular degeneration. Trans. Am. Ophthalmol. Soc. 2007, 105:92-97. Discussion 97-8.
    • (2007) Trans. Am. Ophthalmol. Soc. , vol.105 , pp. 92-97
    • Chan, C.C.1
  • 10
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • Chang Y.F., et al. The nonsense-mediated decay RNA surveillance pathway. Annu. Rev. Biochem. 2007, 76:51-74.
    • (2007) Annu. Rev. Biochem. , vol.76 , pp. 51-74
    • Chang, Y.F.1
  • 11
    • 84872236150 scopus 로고    scopus 로고
    • Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy
    • Cheng Y., et al. Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy. PLoS One 2013, 8:e53665.
    • (2013) PLoS One , vol.8
    • Cheng, Y.1
  • 12
    • 1542742098 scopus 로고    scopus 로고
    • Acandidate tumor suppressor HtrA1 is downregulated in ovarian cancer
    • Chien J., et al. Acandidate tumor suppressor HtrA1 is downregulated in ovarian cancer. Oncogene 2004, 23:1636-1644.
    • (2004) Oncogene , vol.23 , pp. 1636-1644
    • Chien, J.1
  • 13
    • 33745855832 scopus 로고    scopus 로고
    • Serine protease HtrA1 modulates chemotherapy-induced cytotoxicity
    • Chien J., et al. Serine protease HtrA1 modulates chemotherapy-induced cytotoxicity. J.Clin. Investig. 2006, 116:1994-2004.
    • (2006) J.Clin. Investig. , vol.116 , pp. 1994-2004
    • Chien, J.1
  • 14
    • 57749183674 scopus 로고    scopus 로고
    • Sequence variants in HTRA1 and LOC387715/ARMS2 andphenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel
    • Chowers I., et al. Sequence variants in HTRA1 and LOC387715/ARMS2 andphenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel. Mol. Vis. 2008, 14:2263-2271.
    • (2008) Mol. Vis. , vol.14 , pp. 2263-2271
    • Chowers, I.1
  • 15
    • 33750201885 scopus 로고    scopus 로고
    • CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses
    • Conley Y.P., et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum. Mol. Genet. 2006, 15:3206-3218.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 3206-3218
    • Conley, Y.P.1
  • 16
    • 45949111258 scopus 로고    scopus 로고
    • Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration
    • Deangelis M.M., et al. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 2008, 115:1209-1215.
    • (2008) Ophthalmology , vol.115 , pp. 1209-1215
    • Deangelis, M.M.1
  • 17
    • 33751011889 scopus 로고    scopus 로고
    • HTRA1 promoter polymorphism in wet age-related macular degeneration
    • Dewan A., et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 2006, 314:989-992.
    • (2006) Science , vol.314 , pp. 989-992
    • Dewan, A.1
  • 18
    • 59849104241 scopus 로고    scopus 로고
    • Molecular pathology of age-related macular degeneration
    • Ding X., et al. Molecular pathology of age-related macular degeneration. Prog. Retin. Eye Res. 2009, 28:1-18.
    • (2009) Prog. Retin. Eye Res. , vol.28 , pp. 1-18
    • Ding, X.1
  • 19
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards A.O., et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308:421-424.
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 20
    • 23944478239 scopus 로고    scopus 로고
    • Meta-analysis of genome scans of age-related macular degeneration
    • Fisher S.A., et al. Meta-analysis of genome scans of age-related macular degeneration. Hum. Mol. Genet. 2005, 14:2257-2264.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 2257-2264
    • Fisher, S.A.1
  • 21
    • 33947415748 scopus 로고    scopus 로고
    • The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration
    • Francis P.J., et al. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum. Hered. 2007, 63:212-218.
    • (2007) Hum. Hered. , vol.63 , pp. 212-218
    • Francis, P.J.1
  • 22
    • 49649088226 scopus 로고    scopus 로고
    • Rhesus monkeys and humans share common susceptibility genes for age-related macular disease
    • Francis P.J., et al. Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Hum. Mol. Genet. 2008, 17:2673-2680.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 2673-2680
    • Francis, P.J.1
  • 23
    • 79952599773 scopus 로고    scopus 로고
    • Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency
    • Friedrich U., et al. Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum. Mol. Genet. 2011, 20:1387-1399.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1387-1399
    • Friedrich, U.1
  • 24
    • 46249098503 scopus 로고    scopus 로고
    • Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA
    • Fritsche L.G., et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat. Genet. 2008, 40:892-896.
    • (2008) Nat. Genet. , vol.40 , pp. 892-896
    • Fritsche, L.G.1
  • 25
    • 84875706378 scopus 로고    scopus 로고
    • Seven new loci associated with age-related macular degeneration
    • Fritsche L.G., et al. Seven new loci associated with age-related macular degeneration. Nat. Genet. 2013, 45:433-439.
    • (2013) Nat. Genet. , vol.45 , pp. 433-439
    • Fritsche, L.G.1
  • 26
    • 79951813768 scopus 로고    scopus 로고
    • Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration
    • Fuse N., et al. Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration. Am. J. Ophthalmol. 2011, 151:550-556.
    • (2011) Am. J. Ophthalmol. , vol.151 , pp. 550-556
    • Fuse, N.1
  • 27
    • 84863716162 scopus 로고    scopus 로고
    • Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics
    • Gorin M.B. Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol. Asp. Med. 2012, 33:467-486.
    • (2012) Mol. Asp. Med. , vol.33 , pp. 467-486
    • Gorin, M.B.1
  • 28
    • 77951210205 scopus 로고    scopus 로고
    • Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26
    • Hadley D., et al. Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. Investig. Ophthalmol. Vis. Sci. 2010, 51:2191-2196.
    • (2010) Investig. Ophthalmol. Vis. Sci. , vol.51 , pp. 2191-2196
    • Hadley, D.1
  • 29
    • 21044453724 scopus 로고    scopus 로고
    • Acommon haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman G.S., et al. Acommon haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:7227-7232.
    • (2005) Proc. Natl. Acad. Sci. U. S. A. , vol.102 , pp. 7227-7232
    • Hageman, G.S.1
  • 30
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines J.L., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005, 308:419-421.
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1
  • 31
    • 65949097072 scopus 로고    scopus 로고
    • Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease
    • Hara K., et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N.Engl. J. Med. 2009, 360:1729-1739.
    • (2009) N.Engl. J. Med. , vol.360 , pp. 1729-1739
    • Hara, K.1
  • 32
    • 0035007025 scopus 로고    scopus 로고
    • Creation of genome-wide protein expression libraries using random activation of gene expression
    • Harrington J.J., et al. Creation of genome-wide protein expression libraries using random activation of gene expression. Nat. Biotechnol. 2001, 19:440-445.
    • (2001) Nat. Biotechnol. , vol.19 , pp. 440-445
    • Harrington, J.J.1
  • 33
    • 79551695935 scopus 로고    scopus 로고
    • CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation
    • Hayashi H., et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Investig. Ophthalmol. Vis. Sci. 2010, 51:5914-5919.
    • (2010) Investig. Ophthalmol. Vis. Sci. , vol.51 , pp. 5914-5919
    • Hayashi, H.1
  • 34
    • 84857047339 scopus 로고    scopus 로고
    • PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse
    • Hornbeck P.V., et al. PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse. Nucl. Acids Res. 2012, 40:D261-D270.
    • (2012) Nucl. Acids Res. , vol.40
    • Hornbeck, P.V.1
  • 35
    • 84878973158 scopus 로고    scopus 로고
    • Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1
    • Jacobo S.M., et al. Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1. Mol. Cell Biol. 2013, 33:1976-1990.
    • (2013) Mol. Cell Biol. , vol.33 , pp. 1976-1990
    • Jacobo, S.M.1
  • 36
    • 23944465880 scopus 로고    scopus 로고
    • Susceptibility genes for age-related maculopathy on chromosome 10q26
    • Jakobsdottir J., et al. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am. J. Hum. Genet. 2005, 77:389-407.
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 389-407
    • Jakobsdottir, J.1
  • 37
    • 80052302059 scopus 로고    scopus 로고
    • Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice
    • Jones A., et al. Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice. Proc. Natl. Acad. Sci. U. S. A. 2011, 35:14578-14583.
    • (2011) Proc. Natl. Acad. Sci. U. S. A. , vol.35 , pp. 14578-14583
    • Jones, A.1
  • 38
    • 36049042661 scopus 로고    scopus 로고
    • Avariant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
    • Kanda A., et al. Avariant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:16227-16232.
    • (2007) Proc. Natl. Acad. Sci. U. S. A. , vol.104 , pp. 16227-16232
    • Kanda, A.1
  • 39
    • 77955619313 scopus 로고    scopus 로고
    • Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina
    • Kanda A., et al. Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol. Vis. 2010, 16:1317-1323.
    • (2010) Mol. Vis. , vol.16 , pp. 1317-1323
    • Kanda, A.1
  • 40
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein R.J., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1
  • 41
    • 75749140621 scopus 로고    scopus 로고
    • ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations
    • Kortvely E., et al. ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Investig. Ophthalmol. Vis. Sci. 2010, 51:79-88.
    • (2010) Investig. Ophthalmol. Vis. Sci. , vol.51 , pp. 79-88
    • Kortvely, E.1
  • 42
    • 0028089754 scopus 로고
    • AUUUA is not sufficient to promote poly(A) shortening and degradation of an mRNA: the functional sequence within AU-rich elements may be UUAUUUA(U/A)(U/A)
    • Lagnado C.A., et al. AUUUA is not sufficient to promote poly(A) shortening and degradation of an mRNA: the functional sequence within AU-rich elements may be UUAUUUA(U/A)(U/A). Mol. Cell Biol. 1994, 14:7984-7995.
    • (1994) Mol. Cell Biol. , vol.14 , pp. 7984-7995
    • Lagnado, C.A.1
  • 43
    • 49949115930 scopus 로고    scopus 로고
    • HtrA1-dependent proteolysis of TGF-beta controls both neuronal maturation and developmental survival
    • Launay S., et al. HtrA1-dependent proteolysis of TGF-beta controls both neuronal maturation and developmental survival. Cell Death Differ. 2008, 15:1408-1416.
    • (2008) Cell Death Differ. , vol.15 , pp. 1408-1416
    • Launay, S.1
  • 44
    • 13444291526 scopus 로고    scopus 로고
    • Codon bias as a factor in regulating expression via translation rate in the human genome
    • Lavner Y., Kotlar D. Codon bias as a factor in regulating expression via translation rate in the human genome. Gene 2005, 1:127-138.
    • (2005) Gene , vol.1 , pp. 127-138
    • Lavner, Y.1    Kotlar, D.2
  • 45
    • 84873333444 scopus 로고    scopus 로고
    • Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics
    • Liu M.M., et al. Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial genetics. Hum. Genomics 2012, 6:13.
    • (2012) Hum. Genomics , vol.6 , pp. 13
    • Liu, M.M.1
  • 46
    • 84883259720 scopus 로고    scopus 로고
    • AMD-associated variants at the chromosome 10q26 locus and the stability ofARMS2 transcripts
    • Minor E.A., et al. AMD-associated variants at the chromosome 10q26 locus and the stability ofARMS2 transcripts. Investig. Ophthalmol. Vis. Sci. 2013, 54(8):5913-5919.
    • (2013) Investig. Ophthalmol. Vis. Sci. , vol.54 , Issue.8 , pp. 5913-5919
    • Minor, E.A.1
  • 47
    • 34347326088 scopus 로고    scopus 로고
    • Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population
    • Mori K., et al. Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population. J.Hum. Genet. 2007, 52:636-641.
    • (2007) J.Hum. Genet. , vol.52 , pp. 636-641
    • Mori, K.1
  • 48
    • 0033804469 scopus 로고    scopus 로고
    • Genomic sequence, splicing, and gene annotation
    • Mount S.M. Genomic sequence, splicing, and gene annotation. Am. J. Hum. Genet. 2000, 67:788-792.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 788-792
    • Mount, S.M.1
  • 49
    • 85027939027 scopus 로고    scopus 로고
    • Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks
    • Newman A.M., et al. Systems-level analysis of age-related macular degeneration reveals global biomarkers and phenotype-specific functional networks. Genome Med. 2012, 2:16.
    • (2012) Genome Med. , vol.2 , pp. 16
    • Newman, A.M.1
  • 50
    • 12144291128 scopus 로고    scopus 로고
    • HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins
    • Oka C., et al. HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins. Development 2004, 131:1041-1053.
    • (2004) Development , vol.131 , pp. 1041-1053
    • Oka, C.1
  • 51
    • 84860250745 scopus 로고    scopus 로고
    • Characterization of the 10q26-orthologue in rhesus monkeys corroborates a functional connection between ARMS2 and HTRA1
    • Pahl L., et al. Characterization of the 10q26-orthologue in rhesus monkeys corroborates a functional connection between ARMS2 and HTRA1. Exp. Eye Res. 2012, 98:75-78.
    • (2012) Exp. Eye Res. , vol.98 , pp. 75-78
    • Pahl, L.1
  • 52
    • 77958146269 scopus 로고    scopus 로고
    • An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration
    • Richardson A.J., et al. An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration. Investig. Ophthalmol. Vis. Sci. 2010, 51:4932-4936.
    • (2010) Investig. Ophthalmol. Vis. Sci. , vol.51 , pp. 4932-4936
    • Richardson, A.J.1
  • 53
    • 27744462212 scopus 로고    scopus 로고
    • Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
    • Rivera A., et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum. Mol. Genet. 2005, 14:3227-3236.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3227-3236
    • Rivera, A.1
  • 54
    • 34047254880 scopus 로고    scopus 로고
    • The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples
    • Ross R.J., et al. The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Investig. Ophthalmol. Vis. Sci. 2007, 48:1128-1132.
    • (2007) Investig. Ophthalmol. Vis. Sci. , vol.48 , pp. 1128-1132
    • Ross, R.J.1
  • 55
    • 80052964856 scopus 로고    scopus 로고
    • Understanding the contribution of synonymous mutations to human disease
    • Sauna Z.E., Kimchi-Sarfaty C. Understanding the contribution of synonymous mutations to human disease. Nat. Rev. Genet. 2011, 10:683-691.
    • (2011) Nat. Rev. Genet. , vol.10 , pp. 683-691
    • Sauna, Z.E.1    Kimchi-Sarfaty, C.2
  • 56
    • 33646070308 scopus 로고    scopus 로고
    • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration
    • Schmidt S., et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am. J. Hum. Genet. 2006, 78:852-864.
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 852-864
    • Schmidt, S.1
  • 57
    • 34247470278 scopus 로고    scopus 로고
    • Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
    • Seddon J.M., et al. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 2007, 297:1793-1800.
    • (2007) JAMA , vol.297 , pp. 1793-1800
    • Seddon, J.M.1
  • 58
    • 33748451310 scopus 로고    scopus 로고
    • Further support for the common variants in complementfactor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration
    • Shastry B.S., et al. Further support for the common variants in complementfactor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration. Ophthalmologica 2006, 220:291-295.
    • (2006) Ophthalmologica , vol.220 , pp. 291-295
    • Shastry, B.S.1
  • 59
    • 79954509056 scopus 로고    scopus 로고
    • Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1
    • Shiga A., et al. Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1. Hum. Mol. Genet. 2011, 20:1800-1810.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1800-1810
    • Shiga, A.1
  • 60
    • 84872179607 scopus 로고    scopus 로고
    • Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study
    • Sundaresan P., et al. Polymorphisms in ARMS2/HTRA1 and complement genes and age-related macular degeneration in India: findings from the INDEYE study. Investig. Ophthalmol. Vis. Sci. 2012, 53:7492-7497.
    • (2012) Investig. Ophthalmol. Vis. Sci. , vol.53 , pp. 7492-7497
    • Sundaresan, P.1
  • 61
    • 39749089458 scopus 로고    scopus 로고
    • Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns
    • Szafranski K., et al. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. Genome Biol. 2007, 8:R154.
    • (2007) Genome Biol. , vol.8
    • Szafranski, K.1
  • 62
    • 47249112099 scopus 로고    scopus 로고
    • HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH
    • Tam P.O., et al. HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Investig. Ophthalmol. Vis. Sci. 2008, 49:2357-2365.
    • (2008) Investig. Ophthalmol. Vis. Sci. , vol.49 , pp. 2357-2365
    • Tam, P.O.1
  • 63
    • 84866287123 scopus 로고    scopus 로고
    • Association of genetic polymorphisms and age-related macular degeneration in Chinese population
    • Tian J., et al. Association of genetic polymorphisms and age-related macular degeneration in Chinese population. Investig. Ophthalmol. Vis. Sci. 2012, 53:4262-4269.
    • (2012) Investig. Ophthalmol. Vis. Sci. , vol.53 , pp. 4262-4269
    • Tian, J.1
  • 64
    • 84857023039 scopus 로고    scopus 로고
    • A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report
    • Teper S.J., et al. A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report. Med. Sci. Monit. 2012, 18:PR1-PR3.
    • (2012) Med. Sci. Monit. , vol.18
    • Teper, S.J.1
  • 65
    • 54949101967 scopus 로고    scopus 로고
    • The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples
    • Tuo J., et al. The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples. Ophthalmology 2008, 115:1891-1898.
    • (2008) Ophthalmology , vol.115 , pp. 1891-1898
    • Tuo, J.1
  • 66
    • 79960983554 scopus 로고    scopus 로고
    • Overexpression of HTRA1 leads to ultra structural changes in the elastic layer of Bruch's membrane via cleavage of extracellular matrix components
    • Vierkotten S., et al. Overexpression of HTRA1 leads to ultra structural changes in the elastic layer of Bruch's membrane via cleavage of extracellular matrix components. PLoS One 2011, 6:e22959.
    • (2011) PLoS One , vol.6
    • Vierkotten, S.1
  • 67
    • 67649998898 scopus 로고    scopus 로고
    • Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria
    • Wang G., et al. Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Investig. Ophthalmol. Vis. Sci. 2009, 50:3084-3090.
    • (2009) Investig. Ophthalmol. Vis. Sci. , vol.50 , pp. 3084-3090
    • Wang, G.1
  • 68
    • 77951636898 scopus 로고    scopus 로고
    • Analysis of the indel at the ARMS2 3' UTR in age-related macular degeneration
    • Wang G., et al. Analysis of the indel at the ARMS2 3' UTR in age-related macular degeneration. Hum. Genet. 2010, 127:595-602.
    • (2010) Hum. Genet. , vol.127 , pp. 595-602
    • Wang, G.1
  • 69
    • 78149486071 scopus 로고    scopus 로고
    • Genotype at polymorphism rs11200638 is not correlated with HTRA1 expression level
    • Wang G., et al. Genotype at polymorphism rs11200638 is not correlated with HTRA1 expression level. Arch. Ophthalmol. 2010, 128:1491-1493.
    • (2010) Arch. Ophthalmol. , vol.128 , pp. 1491-1493
    • Wang, G.1
  • 70
    • 84878474618 scopus 로고    scopus 로고
    • Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina
    • Wang G., et al. Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina. Exp. Eye Res. 2013, 112:102-105.
    • (2013) Exp. Eye Res. , vol.112 , pp. 102-105
    • Wang, G.1
  • 71
    • 84879036778 scopus 로고    scopus 로고
    • Coding variants in ARMS2 and the risk of age-related macular degeneration
    • Wang G., et al. Coding variants in ARMS2 and the risk of age-related macular degeneration. JAMA Ophthalmol. 2013, 131:804-805.
    • (2013) JAMA Ophthalmol. , vol.131 , pp. 804-805
    • Wang, G.1
  • 72
    • 34547379970 scopus 로고    scopus 로고
    • Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a central European population
    • Weger M., et al. Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a central European population. Mol. Vis. 2007, 13:1274-1279.
    • (2007) Mol. Vis. , vol.13 , pp. 1274-1279
    • Weger, M.1
  • 73
    • 84886417091 scopus 로고    scopus 로고
    • Age-related maculopathy susceptibility 2 participates in the phagocytosis functions of the retinal pigment epithelium
    • Xu Y.T., et al. Age-related maculopathy susceptibility 2 participates in the phagocytosis functions of the retinal pigment epithelium. Int. J. Ophthalmol. 2012, 5:125-132.
    • (2012) Int. J. Ophthalmol. , vol.5 , pp. 125-132
    • Xu, Y.T.1
  • 74
    • 33751004690 scopus 로고    scopus 로고
    • Avariant of the HTRA1 gene increases susceptibility to age-related macular degeneration
    • Yang Z., et al. Avariant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006, 314:992-993.
    • (2006) Science , vol.314 , pp. 992-993
    • Yang, Z.1
  • 75
    • 77649217229 scopus 로고    scopus 로고
    • Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration
    • Yang Z., et al. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010, 6:e1000836.
    • (2010) PLoS Genet. , vol.6
    • Yang, Z.1
  • 76
    • 84862939642 scopus 로고    scopus 로고
    • High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6
    • Zhang L., et al. High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6. J.Biol. Chem. 2012, 287:1520-1526.
    • (2012) J.Biol. Chem. , vol.287 , pp. 1520-1526
    • Zhang, L.1
  • 77
    • 0030566837 scopus 로고    scopus 로고
    • Primary structure of a putative serine protease specific for IGF-binding proteins
    • Zumbrunn J., Trueb B. Primary structure of a putative serine protease specific for IGF-binding proteins. FEBS Lett. 1996, 398:187-192.
    • (1996) FEBS Lett. , vol.398 , pp. 187-192
    • Zumbrunn, J.1    Trueb, B.2


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