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Volumn 20, Issue , 2010, Pages 80-87

Molecular genetics of 21-hydroxylase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

EID: 78751559360     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000321223     Document Type: Article
Times cited : (59)

References (25)
  • 1
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 2
    • 3142610292 scopus 로고
    • HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation
    • White PC, New MI, Dupont B: HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 1984;81:7505-7509.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 7505-7509
    • White, P.C.1    New, M.I.2    Dupont, B.3
  • 3
    • 0007996186 scopus 로고
    • Structure of human steroid 21-hydroxylase genes
    • White PC, New MI, Dupont B: Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986;83:5111-5115.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 5111-5115
    • White, P.C.1    New, M.I.2    Dupont, B.3
  • 4
    • 0042901202 scopus 로고
    • Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene
    • Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y: Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986;83:2841-2845.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2841-2845
    • Higashi, Y.1    Yoshioka, H.2    Yamane, M.3    Gotoh, O.4    Fujii-Kuriyama, Y.5
  • 6
    • 0010430717 scopus 로고
    • Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man
    • Carroll MC, Campbell RD, Porter RR: Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci USA 1985;82:521-525.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 521-525
    • Carroll, M.C.1    Campbell, R.D.2    Porter, R.R.3
  • 7
    • 0028246851 scopus 로고
    • Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication
    • Shen L, Wu LC, Sanlioglu S, Chen R, Mendoza AR, Dangel AW, Carroll MC, Zipf WB, Yu CY: Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene duplication. J Biol Chem 1994;269:8466-8476.
    • (1994) J Biol Chem , vol.269 , pp. 8466-8476
    • Shen, L.1    Wu, L.C.2    Sanlioglu, S.3    Chen, R.4    Mendoza, A.R.5    Dangel, A.W.6    Carroll, M.C.7    Zipf, W.B.8    Yu, C.Y.9
  • 8
    • 0027231385 scopus 로고
    • Tenascin-X: A novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B
    • Bristow J, Tee MK, Gitelman SE, Mellon SH, Miller WL: Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J Cell Biol 1993;122:265-278.
    • (1993) J Cell Biol , vol.122 , pp. 265-278
    • Bristow, J.1    Tee, M.K.2    Gitelman, S.E.3    Mellon, S.H.4    Miller, W.L.5
  • 9
    • 0022930301 scopus 로고
    • Frequent deletion and duplication of the steroid 21-hydroxylase genes
    • Werkmeister JW, New MI, Dupont B, White PC: Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet 1986;39: 461-469.
    • (1986) Am J Hum Genet , vol.39 , pp. 461-469
    • Werkmeister, J.W.1    New, M.I.2    Dupont, B.3    White, P.C.4
  • 10
    • 0034686608 scopus 로고    scopus 로고
    • Deficiencies of human complement C4A and C4B and heterozygosity in length variants of RPC4-CYP21-TNX (RCCX) modules in Caucasians: The load of RCCX genetic diversity on major histocompatibility complex-associated disease
    • Blanchong CA, Zhou B, Rupert KL, Chung EK, Jones KN, Sotos JF, Zipf WB, Rennebohm RM, Yu CY: Deficiencies of human complement C4A and C4B and heterozygosity in length variants of RPC4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med 2000;191:2183-2196.
    • (2000) J Exp Med , vol.191 , pp. 2183-2196
    • Blanchong, C.A.1    Zhou, B.2    Rupert, K.L.3    Chung, E.K.4    Jones, K.N.5    Sotos, J.F.6    Zipf, W.B.7    Rennebohm, R.M.8    Yu, C.Y.9
  • 12
    • 0023933536 scopus 로고
    • Molecular genetic analysis of nonclassical steroid 21-hydroxylase deficiency associated with HLA-B14,DR1
    • Speiser PW, New MI, White PC: Molecular genetic analysis of nonclassical steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. N Engl J Med 1988;319:19-23.
    • (1988) N Engl J Med , vol.319 , pp. 19-23
    • Speiser, P.W.1    New, M.I.2    White, P.C.3
  • 13
    • 0023915848 scopus 로고
    • Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: Implications for steroid 21-hydroxylase deficiency
    • Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y: Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988;42:17-25.
    • (1988) Am J Hum Genet , vol.42 , pp. 17-25
    • Higashi, Y.1    Tanae, A.2    Inoue, H.3    Fujii-Kuriyama, Y.4
  • 14
    • 0007383587 scopus 로고
    • Mutation in the CYP21B gene (Ile-172→Asn) causes steroid 21-hydroxylase deficiency
    • Amor M, Parker KL, Globerman H, New MI, White PC: Mutation in the CYP21B gene (Ile-172→Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1988;85:1600-1604.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 1600-1604
    • Amor, M.1    Parker, K.L.2    Globerman, H.3    New, M.I.4    White, P.C.5
  • 16
    • 0033311160 scopus 로고    scopus 로고
    • Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
    • Nordenstrom A, Thilen A, Hagenfeldt L, Larsson A, Wedell A: Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999;84:1505-1509.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1505-1509
    • Nordenstrom, A.1    Thilen, A.2    Hagenfeldt, L.3    Larsson, A.4    Wedell, A.5
  • 19
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H: Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-1152.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1145-1152
    • Wedell, A.1    Thilen, A.2    Ritzen, E.M.3    Stengler, B.4    Luthman, H.5
  • 20
    • 0030982388 scopus 로고    scopus 로고
    • Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well defined population
    • Jaaskelainen J, Levo A, Voutilainen R, Partanen J: Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J Clin Endocrinol Metab 1997;82:3293-3297.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3293-3297
    • Jaaskelainen, J.1    Levo, A.2    Voutilainen, R.3    Partanen, J.4
  • 21
    • 0034452971 scopus 로고    scopus 로고
    • Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well-defined patients from southern Germany
    • Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP: Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well-defined patients from southern Germany. J Clin Endocrinol Metab 2000;85:1059-1065.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1059-1065
    • Krone, N.1    Braun, A.2    Roscher, A.A.3    Knorr, D.4    Schwarz, H.P.5
  • 22
    • 0042884459 scopus 로고    scopus 로고
    • CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations
    • Stikkelbroeck NMML, Hoefsloot LH, De Wijs IJ, Otten BJ, Hermus ARMM, Sistermans EA: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab 2003;88:3852-3859.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3852-3859
    • Nmml, S.1    Hoefsloot, L.H.2    De Wijs, I.J.3    Otten, B.J.4    Armm, H.5    Sistermans, E.A.6
  • 23
    • 0024580639 scopus 로고
    • Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia
    • Morel Y, Andre J, Uring-Lambert B, Hauptmann G, Betuel H, Tossi M, Forest MG, David M, Bertrand J, Miller WL: Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 1989;83:527-536.
    • (1989) J Clin Invest , vol.83 , pp. 527-536
    • Morel, Y.1    Andre, J.2    Uring-Lambert, B.3    Hauptmann, G.4    Betuel, H.5    Tossi, M.6    Forest, M.G.7    David, M.8    Bertrand, J.9    Miller, W.L.10
  • 24
    • 0027159735 scopus 로고
    • Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
    • Wedell A, Luthman H: Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 1993;2:499-504.
    • (1993) Hum Mol Genet , vol.2 , pp. 499-504
    • Wedell, A.1    Luthman, H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.