메뉴 건너뛰기




Volumn 12, Issue 8, 1997, Pages 1595-1599

Autosomal dominant Alport syndrome linked to the type IV collage α3 and α4 genes (COL4A3 and COL4A4)

Author keywords

Familial benign haematuria; Hereditary nephritis; Type IV collagen

Indexed keywords

COLLAGEN TYPE 4;

EID: 0030789006     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/12.8.1595     Document Type: Article
Times cited : (136)

References (20)
  • 2
    • 0026466362 scopus 로고
    • Ophthalmologic involvement in inherited renal disease
    • Dufier JL. Ophthalmologic involvement in inherited renal disease. Adv Nephrol 1992; 21: 143-156
    • (1992) Adv Nephrol , vol.21 , pp. 143-156
    • Dufier, J.L.1
  • 3
    • 0026792994 scopus 로고
    • Alport syndrome and diffuse leiomyomatosis: Deletions in the 5′ end of the COL4A5 collagen gene
    • Antignac C, Zhou J, Sanak M et al. Alport syndrome and diffuse leiomyomatosis: deletions in the 5′ end of the COL4A5 collagen gene. Kidney Int 1992; 42: 1178-1183
    • (1992) Kidney Int , vol.42 , pp. 1178-1183
    • Antignac, C.1    Zhou, J.2    Sanak, M.3
  • 4
    • 0019792531 scopus 로고
    • The glomerular basal lamina in hereditary nephritis
    • Yoshikawa N, Cameron AH, White RH. The glomerular basal lamina in hereditary nephritis. J Pathol 1981; 135: 199-209
    • (1981) J Pathol , vol.135 , pp. 199-209
    • Yoshikawa, N.1    Cameron, A.H.2    White, R.H.3
  • 5
    • 0023803375 scopus 로고
    • Localization of the gene for X-linked Alport's syndrome
    • Brunner H, Schroder C, van Bennekom C et al. Localization of the gene for X-linked Alport's syndrome. Kidney Int 1988; 34: 507-510
    • (1988) Kidney Int , vol.34 , pp. 507-510
    • Brunner, H.1    Schroder, C.2    Van Bennekom, C.3
  • 6
    • 0025174012 scopus 로고
    • Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X-chromosome linked Alport syndrome
    • Hostikka SL, Eddy RL, Byers MG, Hoyhtya M, Shows TB, Tryggvason K. Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X-chromosome linked Alport syndrome. Proc Natl Acad Sci USA 1990; 87: 1606-1610
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1606-1610
    • Hostikka, S.L.1    Eddy, R.L.2    Byers, M.G.3    Hoyhtya, M.4    Shows, T.B.5    Tryggvason, K.6
  • 7
    • 0025292712 scopus 로고
    • Identification of mutations in the COL4A5 collagen gene in Alport syndrome
    • Barker DF, Hostikka SL, Zhou J et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248: 1224-1227
    • (1990) Science , vol.248 , pp. 1224-1227
    • Barker, D.F.1    Hostikka, S.L.2    Zhou, J.3
  • 8
    • 0028940798 scopus 로고
    • Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients
    • Boye E, Flinter F, Zhou J et al. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients. Hum Mutation 1995; 5: 197-204
    • (1995) Hum Mutation , vol.5 , pp. 197-204
    • Boye, E.1    Flinter, F.2    Zhou, J.3
  • 9
    • 9844240498 scopus 로고    scopus 로고
    • Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: A study of 250 patients with hematuria and suspected of having Alport syndrome
    • Heiskari N, Zhang X, Zhou J et al. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. J Am Soc Nephrol 1996; 7: 702-709
    • (1996) J Am Soc Nephrol , vol.7 , pp. 702-709
    • Heiskari, N.1    Zhang, X.2    Zhou, J.3
  • 10
    • 0028168648 scopus 로고
    • Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome
    • Mochizuki T, Lemmink HH, Mariyama M et al. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nature Genet 1994; 8: 77-81
    • (1994) Nature Genet , vol.8 , pp. 77-81
    • Mochizuki, T.1    Lemmink, H.H.2    Mariyama, M.3
  • 11
    • 0028069132 scopus 로고
    • Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome
    • Lemmink HH, Mochizuki T, van den Heuvel LP et al. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994; 3: 1269-1273
    • (1994) Hum Mol Genet , vol.3 , pp. 1269-1273
    • Lemmink, H.H.1    Mochizuki, T.2    Van Den Heuvel, L.P.3
  • 13
    • 84944443401 scopus 로고
    • Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq 22
    • Barker DF, Cleverly J, Fain PR. Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq 22. Nucl Acids Res 1992; 20: 929
    • (1992) Nucl Acids Res , vol.20 , pp. 929
    • Barker, D.F.1    Cleverly, J.2    Fain, P.R.3
  • 14
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 15
    • 0021344005 scopus 로고
    • Easy calculations of lod scores and genetic risks on small computers
    • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36: 460-465
    • (1984) Am J Hum Genet , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 18
    • 0028812491 scopus 로고
    • Key role for a minor collagen
    • Francomano LA. Key role for a minor collagen. Nature Genet 1995; 9: 6-8
    • (1995) Nature Genet , vol.9 , pp. 6-8
    • Francomano, L.A.1
  • 19
    • 0029738295 scopus 로고    scopus 로고
    • Benign familial hematuria due to mutation of the type I V collage α4 gene
    • Lemmink HH, Nilleson WN, Mochizuki T et al Benign familial hematuria due to mutation of the type I V collage α4 gene. J Clin Invest 1996; 98: 1114-1118
    • (1996) J Clin Invest , vol.98 , pp. 1114-1118
    • Lemmink, H.H.1    Nilleson, W.N.2    Mochizuki, T.3
  • 20
    • 0028815298 scopus 로고
    • Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
    • Vikkula M, Mariman EC, Lui VC et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995; 80: 431-437
    • (1995) Cell , vol.80 , pp. 431-437
    • Vikkula, M.1    Mariman, E.C.2    Lui, V.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.