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Volumn 93, Issue 3, 2009, Pages 379-382

The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT FACTOR H;

EID: 61749099716     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2008.143388     Document Type: Article
Times cited : (3)

References (28)
  • 1
    • 0033855422 scopus 로고    scopus 로고
    • Estimating prevalence in single-gene kidney diseases progressing to renal failure
    • Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000;58:925-43.
    • (2000) Kidney Int , vol.58 , pp. 925-943
    • Levy, M.1    Feingold, J.2
  • 2
    • 0019449140 scopus 로고
    • Alport's syndrome. A report of 58 cases and a review of the literature
    • Gubler M, Levy M, Broyer M, et al. Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med 1981;70:493-505.
    • (1981) Am J Med , vol.70 , pp. 493-505
    • Gubler, M.1    Levy, M.2    Broyer, M.3
  • 3
    • 0014916305 scopus 로고
    • Familial hereditary nephropathy (Alport's syndrome)
    • Purriel P, Drets M, Pascale E, et al. Familial hereditary nephropathy (Alport's syndrome). Am J Med 1970;49:753-73.
    • (1970) Am J Med , vol.49 , pp. 753-773
    • Purriel, P.1    Drets, M.2    Pascale, E.3
  • 4
    • 0020626685 scopus 로고
    • Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membranes?
    • Govan JA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 1983;67:493-503.
    • (1983) Br J Ophthalmol , vol.67 , pp. 493-503
    • Govan, J.A.1
  • 5
    • 0021958902 scopus 로고
    • Genetic heterogeneity of Alport syndrome
    • Feingold J, Bois E, Chompret A, et al. Genetic heterogeneity of Alport syndrome. Kidney Int 1985;27:672-7.
    • (1985) Kidney Int , vol.27 , pp. 672-677
    • Feingold, J.1    Bois, E.2    Chompret, A.3
  • 6
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A collagen gene in Alport syndrome
    • Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A collagen gene in Alport syndrome. Science 1990;248:1224-7.
    • (1990) Science , vol.248 , pp. 1224-1227
    • Barker, D.F.1    Hostikka, S.L.2    Zhou, J.3
  • 7
    • 12044253337 scopus 로고
    • Type IV collagen α5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody
    • Yoshioka K, Hino S, Takemura T, et al. Type IV collagen α5 chain: Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 1994;44:986-96.
    • (1994) Am J Pathol , vol.44 , pp. 986-996
    • Yoshioka, K.1    Hino, S.2    Takemura, T.3
  • 8
    • 0034073758 scopus 로고    scopus 로고
    • X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males
    • Jais JP, Knebelmann B, Giatras I, et al.2000. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000;11:649-57.
    • (2000) J Am Soc Nephrol , vol.2000 , Issue.11 , pp. 649-657
    • Jais, J.P.1    Knebelmann, B.2    Giatras, I.3
  • 9
    • 0141566829 scopus 로고    scopus 로고
    • X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study
    • Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 2003;14:2603-10.
    • (2003) J Am Soc Nephrol , vol.14 , pp. 2603-2610
    • Jais, J.P.1    Knebelmann, B.2    Giatras, I.3
  • 10
    • 0031473018 scopus 로고    scopus 로고
    • Alport syndrome. A review of the ocular manifestations
    • Colville D, Savige JA. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997;18:161-73.
    • (1997) Ophthalmic Genet , vol.18 , pp. 161-173
    • Colville, D.1    Savige, J.A.2
  • 11
    • 33846020929 scopus 로고    scopus 로고
    • Characterisation of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
    • Shaw EA, Colville D, Wang YY, et al. Characterisation of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Neph Dial Transplant 2007;22:104-8.
    • (2007) Neph Dial Transplant , vol.22 , pp. 104-108
    • Shaw, E.A.1    Colville, D.2    Wang, Y.Y.3
  • 12
    • 0024539184 scopus 로고
    • Fundus changes in (type II) mesangiocapillary glomerulonephritis simulating drusen: A histopathological report
    • Duvall-Young J, Macdonald MK, McKechnie NM. Fundus changes in (type II) mesangiocapillary glomerulonephritis simulating drusen: a histopathological report. Br J Ophthalmol 1989;73:297-302.
    • (1989) Br J Ophthalmol , vol.73 , pp. 297-302
    • Duvall-Young, J.1    Macdonald, M.K.2    McKechnie, N.M.3
  • 13
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes to age-related macular degeneration
    • Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes to age-related macular degeneration. PNAS 2005;102:7227-32.
    • (2005) PNAS , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 14
    • 33748325757 scopus 로고    scopus 로고
    • Li M, Atmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 2006;38:1049-54.
    • Li M, Atmaca-Sonmez P, Othman M, et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 2006;38:1049-54.
  • 15
    • 1542318912 scopus 로고    scopus 로고
    • Heterozygous and homozygous factor H deficiencies associated with haemolytic uremic syndrome or membranoproliferative glomerulonephritis. Report and genetic analysis of 16 cases
    • Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al. Heterozygous and homozygous factor H deficiencies associated with haemolytic uremic syndrome or membranoproliferative glomerulonephritis. Report and genetic analysis of 16 cases. J Am Soc Nephrol 2004;15:787-95.
    • (2004) J Am Soc Nephrol , vol.15 , pp. 787-795
    • Dragon-Durey, M.A.1    Fremeaux-Bacchi, V.2    Loirat, C.3
  • 16
    • 33751243644 scopus 로고    scopus 로고
    • Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid
    • Johnson PT, Betts KE, Radeke MJ, et al. Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. PNAS 2006;103:17456-61.
    • (2006) PNAS , vol.103 , pp. 17456-17461
    • Johnson, P.T.1    Betts, K.E.2    Radeke, M.J.3
  • 17
    • 34247470278 scopus 로고    scopus 로고
    • Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
    • Seddon JM, Francis PJ, George S, et al. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 2007;297:1793-800.
    • (2007) JAMA , vol.297 , pp. 1793-1800
    • Seddon, J.M.1    Francis, P.J.2    George, S.3
  • 18
    • 41149129090 scopus 로고    scopus 로고
    • Genetic markers and biomarkers for age-related macular degeneration
    • Ross RJ, Verma V, Rosenberg KI, et al. Genetic markers and biomarkers for age-related macular degeneration. Expert Rev Ophthamol 2007;2:443-57.
    • (2007) Expert Rev Ophthamol , vol.2 , pp. 443-457
    • Ross, R.J.1    Verma, V.2    Rosenberg, K.I.3
  • 19
    • 33749143628 scopus 로고    scopus 로고
    • Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration
    • Kaur I, Hussain A, Hussain N, et al. Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration. Invest Ophthalmol Vis Sci 2006;47:3729-35.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 3729-3735
    • Kaur, I.1    Hussain, A.2    Hussain, N.3
  • 20
    • 33750590331 scopus 로고    scopus 로고
    • Analysis of the Y402H variant of the Complement Factor H gene in age-related macular degeneration
    • Baird PN, Islam FMA, Richardson AJ, et al. Analysis of the Y402H variant of the Complement Factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci 2006;47:4194-8.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 4194-4198
    • Baird, P.N.1    Islam, F.M.A.2    Richardson, A.J.3
  • 21
    • 0029094854 scopus 로고
    • Clinical features and pathogenesis of Alport retinopathy
    • Gehrs KM, Pollock SC, Zilkha G. Clinical features and pathogenesis of Alport retinopathy. Retina 1995;15:305-11.
    • (1995) Retina , vol.15 , pp. 305-311
    • Gehrs, K.M.1    Pollock, S.C.2    Zilkha, G.3
  • 22
    • 0018819574 scopus 로고
    • Perimacular changes in Alport's syndrome
    • Perrin D, Jungers P, Grunfeld JP, et al. Perimacular changes in Alport's syndrome. Clin Nephrol 1980;13:163-7.
    • (1980) Clin Nephrol , vol.13 , pp. 163-167
    • Perrin, D.1    Jungers, P.2    Grunfeld, J.P.3
  • 23
    • 0036020918 scopus 로고    scopus 로고
    • Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling
    • Gross O, Netzer K-O, Lambrecht R, et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 2002;17:1218-27.
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1218-1227
    • Gross, O.1    Netzer, K.-O.2    Lambrecht, R.3
  • 24
    • 0032908591 scopus 로고    scopus 로고
    • Ocular findings in 34 patients with Alport syndrome: Correlation of the findings to mutations in COL4A5 gene
    • Pajari H, Setala K, Heiskari N, et al. Ocular findings in 34 patients with Alport syndrome: correlation of the findings to mutations in COL4A5 gene. Acta Ophthalmol Scand 1999;77:214-17.
    • (1999) Acta Ophthalmol Scand , vol.77 , pp. 214-217
    • Pajari, H.1    Setala, K.2    Heiskari, N.3
  • 25
    • 34250426039 scopus 로고
    • Split and extremely thin glomerular basement membranes in hereditary nephritis (Alport's syndrome)
    • Rumpelt HJ, Langer KH, Scharer K, et al. Split and extremely thin glomerular basement membranes in hereditary nephritis (Alport's syndrome). Virchow's Arch A Path Anat Histol 1974;364:225-33.
    • (1974) Virchow's Arch A Path Anat Histol , vol.364 , pp. 225-233
    • Rumpelt, H.J.1    Langer, K.H.2    Scharer, K.3
  • 26
    • 0018844840 scopus 로고
    • Uberlegungen zur pathogenese des cochleo-renalen syndroms.
    • Arnold W. Uberlegungen zur pathogenese des cochleo-renalen syndroms. Acta Otolaryngol 1980;89:330-41.
    • (1980) Acta Otolaryngol , vol.89 , pp. 330-341
    • Arnold, W.1
  • 28
    • 0011158681 scopus 로고    scopus 로고
    • Basement membrane abnormalities in autosomal dominant Alport syndrome
    • Hood J, Savige JA, Dowling J, et al. Basement membrane abnormalities in autosomal dominant Alport syndrome. Am J Kidney Dis 2000;113:455-7.
    • (2000) Am J Kidney Dis , vol.113 , pp. 455-457
    • Hood, J.1    Savige, J.A.2    Dowling, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.