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Volumn 232, Issue 5, 2007, Pages 638-642

Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females

Author keywords

Alport syndrome; Female; Messenger RNA; Phenotype; X inactivation

Indexed keywords

ANDROGEN RECEPTOR; COLLAGEN TYPE 4; COLLAGEN TYPE 4 ALPHA5; MESSENGER RNA; POLYACRYLAMIDE GEL; UNCLASSIFIED DRUG;

EID: 34247585168     PISSN: 15353702     EISSN: 15353699     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (25)
  • 1
    • 0036020918 scopus 로고    scopus 로고
    • Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: Impact on clinical counselling
    • Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17:1218-1227, 2002.
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1218-1227
    • Gross, O.1    Netzer, K.O.2    Lambrecht, R.3    Seibold, S.4    Weber, M.5
  • 3
    • 0034110693 scopus 로고    scopus 로고
    • Alport syndromes. Phenotypic heterogeneity of progressive hereditary nephritis
    • Kashtan CE. Alport syndromes. Phenotypic heterogeneity of progressive hereditary nephritis. Pediatr Nephrol 14:502-512, 2000.
    • (2000) Pediatr Nephrol , vol.14 , pp. 502-512
    • Kashtan, C.E.1
  • 6
    • 0031747294 scopus 로고    scopus 로고
    • Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations
    • Mazzucco G, Barsotti P, Muda AO, Fortunato M, Mihatsch M, Torri-Tarelli L, Renieri A, Faraggiana T, De Marchi M, Monga G. Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol 9:1023-1031, 1998.
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1023-1031
    • Mazzucco, G.1    Barsotti, P.2    Muda, A.O.3    Fortunato, M.4    Mihatsch, M.5    Torri-Tarelli, L.6    Renieri, A.7    Faraggiana, T.8    De Marchi, M.9    Monga, G.10
  • 7
    • 0036952768 scopus 로고    scopus 로고
    • Phenotypic and genotypic features of Alport syndrome in Chinese children
    • Wang F, Ding J, Guo S, Yang J. Phenotypic and genotypic features of Alport syndrome in Chinese children. Pediatr Nephrol 17:1013-1020, 2002.
    • (2002) Pediatr Nephrol , vol.17 , pp. 1013-1020
    • Wang, F.1    Ding, J.2    Guo, S.3    Yang, J.4
  • 9
    • 16244419028 scopus 로고    scopus 로고
    • Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts
    • Wang F, Wang Y, Ding J, Yang J. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Kidney Int 67:1268-1274, 2005.
    • (2005) Kidney Int , vol.67 , pp. 1268-1274
    • Wang, F.1    Wang, Y.2    Ding, J.3    Yang, J.4
  • 10
    • 0028285270 scopus 로고
    • Structure of the human type IV collagen COL4A5 gene
    • Zhou J, Leinonen A, Tryggvason K. Structure of the human type IV collagen COL4A5 gene. J Biol Chem 269:6608-6614, 1994.
    • (1994) J Biol Chem , vol.269 , pp. 6608-6614
    • Zhou, J.1    Leinonen, A.2    Tryggvason, K.3
  • 11
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-239, 1992.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 14
    • 0034456114 scopus 로고    scopus 로고
    • The role of the CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogensis of hirsutism
    • Calvo RM, Asuncion M, Sancho J, San Millan JL, Escobar-Morreale HF. The role of the CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogensis of hirsutism. J Clin Endocrinol Metab 85:1735-1740, 2000.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1735-1740
    • Calvo, R.M.1    Asuncion, M.2    Sancho, J.3    San Millan, J.L.4    Escobar-Morreale, H.F.5
  • 16
    • 0028940666 scopus 로고
    • Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele
    • Guo C, Van Damme B, Vanrenterghem Y, Devriendt K, Cassiman JJ, Marynen P. Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 95:1832-1837, 1995.
    • (1995) J Clin Invest , vol.95 , pp. 1832-1837
    • Guo, C.1    Van Damme, B.2    Vanrenterghem, Y.3    Devriendt, K.4    Cassiman, J.J.5    Marynen, P.6
  • 17
    • 0021846608 scopus 로고
    • Renal prognosis in women with hereditary nephritis
    • Grunfeld JP, Noel LH, Hafez S, Droz D. Renal prognosis in women with hereditary nephritis. Clin Nephrol 23:267-271, 1985.
    • (1985) Clin Nephrol , vol.23 , pp. 267-271
    • Grunfeld, J.P.1    Noel, L.H.2    Hafez, S.3    Droz, D.4
  • 19
    • 0031596221 scopus 로고    scopus 로고
    • Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome
    • Nakanishi K, Iijima K, Kuroda N, Inoue Y, Sado Y, Nakamura H, Yoshikawa N. Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome. J Am Soc Nephrol 9:1433-1440, 1998.
    • (1998) J Am Soc Nephrol , vol.9 , pp. 1433-1440
    • Nakanishi, K.1    Iijima, K.2    Kuroda, N.3    Inoue, Y.4    Sado, Y.5    Nakamura, H.6    Yoshikawa, N.7
  • 20
    • 0033762221 scopus 로고    scopus 로고
    • Age- and tissue-speciffic variation of X chromosome inactivation ratios in normal women
    • Sharp A, Robinson D, Jacobs P. Age- and tissue-speciffic variation of X chromosome inactivation ratios in normal women. Hum Genet 107:343-349, 2000.
    • (2000) Hum Genet , vol.107 , pp. 343-349
    • Sharp, A.1    Robinson, D.2    Jacobs, P.3
  • 22
    • 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 29:663-666, 1992.
    • (1992) J Med Genet , vol.29 , pp. 663-666
    • Vetrie, D.1    Flinter, F.2    Bobrow, M.3    Harris, A.4
  • 23
    • 0028219438 scopus 로고
    • Tissue specificity of X-chromosome inactivation patterns
    • Gale RE, Wheadon H, Boulos P, Linch DC. Tissue specificity of X-chromosome inactivation patterns. Blood 83:2899-2905, 1994.
    • (1994) Blood , vol.83 , pp. 2899-2905
    • Gale, R.E.1    Wheadon, H.2    Boulos, P.3    Linch, D.C.4
  • 24
    • 21544433015 scopus 로고    scopus 로고
    • DNA methylation and epigenotypes
    • Holliday R. DNA methylation and epigenotypes. Biochemistry 70:500-504, 2005.
    • (2005) Biochemistry , vol.70 , pp. 500-504
    • Holliday, R.1
  • 25
    • 4744344066 scopus 로고    scopus 로고
    • Epigenetics and cancer
    • Lund AH, van Lohuizen M. Epigenetics and cancer. Genes Dev 18:2315-2335, 2004.
    • (2004) Genes Dev , vol.18 , pp. 2315-2335
    • Lund, A.H.1    van Lohuizen, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.