메뉴 건너뛰기




Volumn 22, Issue 6, 2007, Pages 1499-1505

Alport syndrome and the X chromosome: Implications of a diagnosis of Alport syndrome in females

Author keywords

Alport syndrome; Basement membranes; Type IV collagen; X chromosome

Indexed keywords

COLLAGEN TYPE 4;

EID: 34447573030     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfm024     Document Type: Note
Times cited : (44)

References (32)
  • 1
    • 84965236793 scopus 로고
    • Hereditary familial congenital haemorrhagic nephritis
    • Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J 1927; 1: 504-506
    • (1927) Br Med J , vol.1 , pp. 504-506
    • Alport, A.C.1
  • 2
    • 0014337836 scopus 로고
    • Alport's syndrome of hereditary nephritis and deafness
    • Crawfurd MDA, Toghill PJ. Alport's syndrome of hereditary nephritis and deafness. Q J Med 1968; 37: 563-576
    • (1968) Q J Med , vol.37 , pp. 563-576
    • Crawfurd, M.D.A.1    Toghill, P.J.2
  • 3
    • 0015365715 scopus 로고
    • Hereditary nephropathy with nerve deafness (Alport's syndrome)
    • Ferguson AC, Rance CP. Hereditary nephropathy with nerve deafness (Alport's syndrome). Am J Kidney Dis 1972; 124: 84-88
    • (1972) Am J Kidney Dis , vol.124 , pp. 84-88
    • Ferguson, A.C.1    Rance, C.P.2
  • 5
    • 0141566829 scopus 로고    scopus 로고
    • X-linked Alport syndrome: Natural history and genotype-phenotype correlations in girls and women belonging to 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 to 195 families: A "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 2003; 14: 2603-2610
    • (2003) J Am Soc Nephrol , vol.14 , pp. 2603-2610
    • Jais, J.P.1    Knebelmann, B.2    Giatras, I.3
  • 6
  • 7
    • 33746922312 scopus 로고    scopus 로고
    • Renal transplantation in patients with Alport syndrome
    • Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transpl 2006; 10: 651-657
    • (2006) Pediatr Transpl , vol.10 , pp. 651-657
    • Kashtan, C.E.1
  • 8
    • 34447529608 scopus 로고    scopus 로고
    • Kashtan CE. Collagen IV-related nephropathies Alport Syndrome and Thin Basement Membrane Nephropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle, University of Washington, 1997-2005
    • Kashtan CE. Collagen IV-related nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Seattle, University of Washington, 1997-2005
  • 9
  • 10
    • 0032231632 scopus 로고    scopus 로고
    • Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome
    • Boye E, Mollet G, Forestier L et al. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet 1998; 63: 1329-1340
    • (1998) Am J Hum Genet , vol.63 , pp. 1329-1340
    • Boye, E.1    Mollet, G.2    Forestier, L.3
  • 11
    • 0035163168 scopus 로고    scopus 로고
    • Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
    • Heidet L, Arrondel C, Forestier L et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Amer Soc Nephrol 2001; 12: 97-106
    • (2001) J Amer Soc Nephrol , vol.12 , pp. 97-106
    • Heidet, L.1    Arrondel, C.2    Forestier, L.3
  • 13
    • 16644399795 scopus 로고    scopus 로고
    • The molecular basis of Goodpasture and Alport syndromes: Beacons for the discovery of the collagen IV family
    • Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol 2004; 15: 2514-2527
    • (2004) J Am Soc Nephrol , vol.15 , pp. 2514-2527
    • Hudson, B.G.1
  • 14
    • 0026740928 scopus 로고
    • Distribution of the a1 and a2 chains of collagen IV and of collagens V and VI in Alport syndrome
    • Kashtan CE, Kim Y. Distribution of the a1 and a2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int 1992; 42: 115-126
    • (1992) Kidney Int , vol.42 , pp. 115-126
    • Kashtan, C.E.1    Kim, Y.2
  • 15
    • 0031000529 scopus 로고    scopus 로고
    • Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis
    • Kalluri R, Shield CF, Todd P, Hudson BG, Neilson EG. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 1997; 99: 2470-2478
    • (1997) J Clin Invest , vol.99 , pp. 2470-2478
    • Kalluri, R.1    Shield, C.F.2    Todd, P.3    Hudson, B.G.4    Neilson, E.G.5
  • 16
    • 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. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000; 11: 649-657
    • (2000) J Am Soc Nephrol , vol.11 , pp. 649-657
    • Jais, J.P.1    Knebelmann, B.2    Giatras, I.3
  • 17
    • 0026786831 scopus 로고
    • X inactivation patterns in females with Alport's syndrome: A means of selecting against a deleterious gene?
    • Vetrie D, Flinter F, Bobrow M, Harris A. X inactivation patterns in females with Alport's syndrome: A means of selecting against a deleterious gene? J Med Genet 1992; 29: 663-666
    • (1992) J Med Genet , vol.29 , pp. 663-666
    • Vetrie, D.1    Flinter, F.2    Bobrow, M.3    Harris, A.4
  • 18
    • 0031596221 scopus 로고    scopus 로고
    • Comparison of a5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome
    • Nakanishi K, Iijima K, Kuroda N et al. Comparison of a5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome. J Amer Soc Nephrol 1998; 9: 1433-1440
    • (1998) J Amer Soc Nephrol , vol.9 , pp. 1433-1440
    • Nakanishi, K.1    Iijima, K.2    Kuroda, N.3
  • 19
    • 0142156122 scopus 로고    scopus 로고
    • Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease
    • Massella L, Onetti Muda A, Faraggiana T, Bette C, Renieri A, Rizzoni G. Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease. Kidney Int 2003; 64: 1787-1791
    • (2003) Kidney Int , vol.64 , pp. 1787-1791
    • Massella, L.1    Onetti Muda, A.2    Faraggiana, T.3    Bette, C.4    Renieri, A.5    Rizzoni, G.6
  • 20
    • 33646679166 scopus 로고    scopus 로고
    • Disease manifestations and X incativation in heterozygous females with Fabry disease
    • Maier EM, Osterrieder S. Whybra C et al. Disease manifestations and X incativation in heterozygous females with Fabry disease. Acta Paediatr Suppl 2006; 95: 30-38
    • (2006) Acta Paediatr Suppl , vol.95 , pp. 30-38
    • Maier, E.M.1    Osterrieder, S.2    Whybra, C.3
  • 21
    • 23844484627 scopus 로고    scopus 로고
    • Relationship between X-inactivation and clinical invovlement in Fabry heterozygotes
    • Dobrovolny R, Dvorakova L, Ledvinova J et al. Relationship between X-inactivation and clinical invovlement in Fabry heterozygotes. J Mol Med 2005; 83: 647-654
    • (2005) J Mol Med , vol.83 , pp. 647-654
    • Dobrovolny, R.1    Dvorakova, L.2    Ledvinova, J.3
  • 22
    • 0032788145 scopus 로고    scopus 로고
    • Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
    • Traupe H. Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. Am J Med Genet 1999; 85: 324-329
    • (1999) Am J Med Genet , vol.85 , pp. 324-329
    • Traupe, H.1
  • 23
    • 0032771724 scopus 로고    scopus 로고
    • Extracutaneous analogies of Blaschko lines
    • Rott H. Extracutaneous analogies of Blaschko lines. Am J Med Genet 1999, 85: 338-341
    • (1999) Am J Med Genet , vol.85 , pp. 338-341
    • Rott, H.1
  • 26
    • 0028939722 scopus 로고
    • Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
    • Gubler MC, Knebelmann B, Beziau A et al. Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995; 47: 1142-1147
    • (1995) Kidney Int , vol.47 , pp. 1142-1147
    • Gubler, M.C.1    Knebelmann, B.2    Beziau, A.3
  • 27
    • 0031725136 scopus 로고    scopus 로고
    • High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
    • Martin P, Heiskari N, Zhou J et al. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 1998; 9: 2291-2301
    • (1998) J Am Soc Nephrol , vol.9 , pp. 2291-2301
    • Martin, P.1    Heiskari, N.2    Zhou, J.3
  • 28
    • 0031747294 scopus 로고    scopus 로고
    • Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphassis on COL4A5 gene mutation correlations
    • Mazzucco G, Barsotti P, Muda AO et al. Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphassis on COL4A5 gene mutation correlations. J Amer Soc Nephrol 1998; 9: 1023-1031
    • (1998) J Amer Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3
  • 29
    • 0028331927 scopus 로고
    • Canine X chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the a5 chain of collagentype IV
    • Zheng K, Thorner PS, Marrano, P, Baumal R, McInnes RR. Canine X chromosome-linked hereditary nephritis: A genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the a5 chain of collagentype IV. Proc Natl Acad Sci USA 1994; 91: 3989-3993
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3989-3993
    • Zheng, K.1    Thorner, P.S.2    Marrano, P.3    Baumal, R.4    McInnes, R.R.5
  • 30
    • 0037682256 scopus 로고    scopus 로고
    • Genetic cause of X-linked Alport syndrome in a family of domestic dogs
    • Cox M, Lees GE, Kashtan CE, Murphy KE. Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Mamm Genome 2003; 14: 396-403
    • (2003) Mamm Genome , vol.14 , pp. 396-403
    • Cox, M.1    Lees, G.E.2    Kashtan, C.E.3    Murphy, K.E.4
  • 32
    • 0029060924 scopus 로고
    • Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis
    • Ding J, Stitzel J, Berry P, Hawkins E, Kashtan C. Autosomal recessive Alport syndrome: Mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis. J Amer Soc Nephrol 1995; 5: 1714-1717
    • (1995) J Amer Soc Nephrol , vol.5 , pp. 1714-1717
    • Ding, J.1    Stitzel, J.2    Berry, P.3    Hawkins, E.4    Kashtan, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.