메뉴 건너뛰기




Volumn 6, Issue 3, 2010, Pages 417-426

A steroid metabolomic approach to 17α-hydroxylase/17,20 lyase deficiency

Author keywords

17 hydroxylase 17,20 lyase deficiency; Gas chromatography mass spectrometry; Threshold Number of Misclassifications

Indexed keywords


EID: 77954457472     PISSN: 15733882     EISSN: 15733890     Source Type: Journal    
DOI: 10.1007/s11306-010-0217-8     Document Type: Article
Times cited : (4)

References (30)
  • 1
    • 0026531802 scopus 로고
    • Compound heterozygous mutations (Arg 239-stop, Pro 342-Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17, 20-lyase deficiency
    • Ahlgren, R., Yanase, T., Simpson, E. R., Winter, J. S., & Waterman, M. R. (1992). Compound heterozygous mutations (Arg 239-stop, Pro 342-Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17, 20-lyase deficiency. Journal of Clinical Endocrinology and Metabolism, 74, 667-672.
    • (1992) Journal of Clinical Endocrinology and Metabolism , vol.74 , pp. 667-672
    • Ahlgren, R.1    Yanase, T.2    Simpson, E.R.3    Winter, J.S.4    Waterman, M.R.5
  • 2
    • 0036893558 scopus 로고    scopus 로고
    • Molecular evolution of adrenarche: Structural and functional analysis of p450c17 from four primate species
    • Arlt, W., Martens, J. W., Song, M., Wang, J. T., Auchus, R. J., & Miller, W. L. (2002). Molecular evolution of adrenarche: structural and functional analysis of p450c17 from four primate species. Endocrinology, 143, 4665-4672.
    • (2002) Endocrinology , vol.143 , pp. 4665-4672
    • Arlt, W.1    Martens, J.W.2    Song, M.3    Wang, J.T.4    Auchus, R.J.5    Miller, W.L.6
  • 3
    • 0033346398 scopus 로고    scopus 로고
    • Molecular modeling of human P450c17 (17alpha-hydroxylase/17, 20-lyase): Insights into reaction mechanisms and effects of mutations
    • Auchus, R. J., & Miller, W. L. (1999). Molecular modeling of human P450c17 (17alpha-hydroxylase/17, 20-lyase): insights into reaction mechanisms and effects of mutations. Molecular Endocrinology, 13, 1169-1182.
    • (1999) Molecular Endocrinology , vol.13 , pp. 1169-1182
    • Auchus, R.J.1    Miller, W.L.2
  • 4
    • 0032488666 scopus 로고    scopus 로고
    • Cytochrome b5 augments the 17, 20-lyase activity of human P450c17 without direct electron transfer
    • Auchus, R. J., Lee, T. C., & Miller, W. L. (1998). Cytochrome b5 augments the 17, 20-lyase activity of human P450c17 without direct electron transfer. The Journal of Biological Chemistry, 273, 3158-3165.
    • (1998) The Journal of Biological Chemistry , vol.273 , pp. 3158-3165
    • Auchus, R.J.1    Lee, T.C.2    Miller, W.L.3
  • 5
    • 0035931125 scopus 로고    scopus 로고
    • Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action
    • Baker, M. E. (2001). Evolution of 17beta-hydroxysteroid dehydrogenases and their role in androgen, estrogen and retinoid action. Molecular and Cellular Endocrinology, 171, 211-215.
    • (2001) Molecular and Cellular Endocrinology , vol.171 , pp. 211-215
    • Baker, M.E.1
  • 8
    • 0026408859 scopus 로고
    • Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17, 20-lyase deficiency in an Italian patient
    • Biason, A., Mantero, F., Scaroni, C., Simpson, E. R., & Waterman, M. R. (1991). Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17, 20-lyase deficiency in an Italian patient. Molecular Endocrinology, 5, 2037-2045.
    • (1991) Molecular Endocrinology , vol.5 , pp. 2037-2045
    • Biason, A.1    Mantero, F.2    Scaroni, C.3    Simpson, E.R.4    Waterman, M.R.5
  • 11
    • 0029798470 scopus 로고    scopus 로고
    • The zona reticularis is the site of biosynthesis of dehydroepiandrosterone and dehydroepiandrosterone sulfate in the adult human adrenal cortex resulting from its low expression of 3 beta-hydroxysteroid dehydrogenase
    • Endoh, A., Kristiansen, S. B., Casson, P. R., Buster, J. E., & Hornsby, P. J. (1996). The zona reticularis is the site of biosynthesis of dehydroepiandrosterone and dehydroepiandrosterone sulfate in the adult human adrenal cortex resulting from its low expression of 3 beta-hydroxysteroid dehydrogenase. Journal of Clinical Endocrinology and Metabolism, 81, 3558-3565.
    • (1996) Journal of Clinical Endocrinology and Metabolism , vol.81 , pp. 3558-3565
    • Endoh, A.1    Kristiansen, S.B.2    Casson, P.R.3    Buster, J.E.4    Hornsby, P.J.5
  • 13
    • 0032893922 scopus 로고    scopus 로고
    • P450c17 mutations R347H and R358Q selectively disrupt 17, 20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5
    • Geller, D. H., Auchus, R. J., & Miller, W. L. (1999). P450c17 mutations R347H and R358Q selectively disrupt 17, 20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5. Molecular Endocrinology, 13, 167-175.
    • (1999) Molecular Endocrinology , vol.13 , pp. 167-175
    • Geller, D.H.1    Auchus, R.J.2    Miller, W.L.3
  • 15
    • 0028986635 scopus 로고
    • The role of cytochrome b5 in the biosynthesis of androgens by human P450c17
    • Katagiri, M., Kagawa, N., & Waterman, M. R. (1995). The role of cytochrome b5 in the biosynthesis of androgens by human P450c17. Archives of Biochemistry and Biophysics, 317, 343-347.
    • (1995) Archives of Biochemistry and Biophysics , vol.317 , pp. 343-347
    • Katagiri, M.1    Kagawa, N.2    Waterman, M.R.3
  • 16
    • 0029054788 scopus 로고
    • Modulation of the activity of human 17 alpha-hydroxylase-17, 20-lyase (CYP17) by cytochrome b5: Endocrinological and mechanistic implications
    • Lee-Robichaud, P., Wright, J. N., Akhtar, M. E., & Akhtar, M. (1995). Modulation of the activity of human 17 alpha-hydroxylase-17, 20-lyase (CYP17) by cytochrome b5: endocrinological and mechanistic implications. Biochemical Journal, 308(Pt 3), 901-908.
    • (1995) Biochemical Journal , vol.308 , Issue.Pt 3 , pp. 901-908
    • Lee-Robichaud, P.1    Wright, J.N.2    Akhtar, M.E.3    Akhtar, M.4
  • 17
    • 0014439360 scopus 로고
    • Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries
    • Mallin, S. R. (1969). Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries. Annals of Internal Medicine, 70, 69-75.
    • (1969) Annals of Internal Medicine , vol.70 , pp. 69-75
    • Mallin, S.R.1
  • 18
    • 34548621405 scopus 로고    scopus 로고
    • 11Beta-HSD type 1 expression in human adipose tissue: Impact of gender, obesity, and fat localization
    • Paulsen, S. K., Pedersen, S. B., Fisker, S., & Richelsen, B. (2007). 11Beta-HSD type 1 expression in human adipose tissue: impact of gender, obesity, and fat localization. Obesity (Silver Spring), 15, 1954-1960.
    • (2007) Obesity (Silver Spring) , vol.15 , pp. 1954-1960
    • Paulsen, S.K.1    Pedersen, S.B.2    Fisker, S.3    Richelsen, B.4
  • 19
    • 34250635920 scopus 로고    scopus 로고
    • Role of inhibin and activin in the modulation of gonadotropin- and steroid-induced oocyte maturation in the teleost Fundulus heteroclitus
    • Petrino, T. R., Toussaint, G., & Lin, Y. W. (2007). Role of inhibin and activin in the modulation of gonadotropin- and steroid-induced oocyte maturation in the teleost Fundulus heteroclitus. Reproductive Biology and Endocrinology, 5, 21.
    • (2007) Reproductive Biology and Endocrinology , vol.5 , pp. 21
    • Petrino, T.R.1    Toussaint, G.2    Lin, Y.W.3
  • 20
    • 63449101907 scopus 로고    scopus 로고
    • Pillai, S. G., Ge, D., Zhu, G., Kong, X., Shianna, K. V., Need, A. C., Feng, S., Hersh, C. P., Bakke, P., Gulsvik, A., Ruppert, A., Lodrup Carlsen, K. C., Roses, A., Anderson, W., Rennard, S. I., Lomas, D. A., Silverman, E. K. & Goldstein, D. B. (2009). A genome-wide association study in chronic obstructive pulmonary disease (COPD): Identification of two major susceptibility loci. PLoS Genet, 5, e1000421.
  • 22
    • 85047683614 scopus 로고    scopus 로고
    • Minireview: 11beta-hydroxysteroid dehydrogenase type 1-a tissue-specific amplifier of glucocorticoid action
    • Seckl, J. R., & Walker, B. R. (2001). Minireview: 11beta-hydroxysteroid dehydrogenase type 1-a tissue-specific amplifier of glucocorticoid action. Endocrinology, 142, 1371-1376.
    • (2001) Endocrinology , vol.142 , pp. 1371-1376
    • Seckl, J.R.1    Walker, B.R.2
  • 23
    • 1542617041 scopus 로고    scopus 로고
    • A shift in steroidogenesis occurring in ovarian follicles prior to oocyte maturation
    • Senthilkumaran, B., Yoshikuni, M., & Nagahama, Y. (2004). A shift in steroidogenesis occurring in ovarian follicles prior to oocyte maturation. Molecular and Cellular Endocrinology, 215, 11-18.
    • (2004) Molecular and Cellular Endocrinology , vol.215 , pp. 11-18
    • Senthilkumaran, B.1    Yoshikuni, M.2    Nagahama, Y.3
  • 24
    • 0018911016 scopus 로고
    • Use of Sep-pak cartridges for urinary steroid extraction: Evaluation of the method for use prior to gas chromatographic analysis
    • Shackleton, C. H., & Whitney, J. O. (1980). Use of Sep-pak cartridges for urinary steroid extraction: evaluation of the method for use prior to gas chromatographic analysis. Clinica Chimica Acta, 107, 231-243.
    • (1980) Clinica Chimica Acta , vol.107 , pp. 231-243
    • Shackleton, C.H.1    Whitney, J.O.2
  • 25
    • 41549141663 scopus 로고    scopus 로고
    • 17-Hydroxylase/C17, 20-lyase (CYP17) is not the enzyme responsible for side-chain cleavage of cortisol and its metabolites
    • Shackleton, C. H., Neres, M. S., Hughes, B. A., Stewart, P. M., & Kater, C. E. (2008). 17-Hydroxylase/C17, 20-lyase (CYP17) is not the enzyme responsible for side-chain cleavage of cortisol and its metabolites. Steroids, 73, 652-656.
    • (2008) Steroids , vol.73 , pp. 652-656
    • Shackleton, C.H.1    Neres, M.S.2    Hughes, B.A.3    Stewart, P.M.4    Kater, C.E.5
  • 26
    • 1542782363 scopus 로고    scopus 로고
    • CYP17 mutation E305G causes isolated 17, 20-lyase deficiency by selectively altering substrate binding
    • Sherbet, D. P., Tiosano, D., Kwist, K. M., Hochberg, Z., & Auchus, R. J. (2003). CYP17 mutation E305G causes isolated 17, 20-lyase deficiency by selectively altering substrate binding. The Journal of Biological Chemistry, 278, 48563-48569.
    • (2003) The Journal of Biological Chemistry , vol.278 , pp. 48563-48569
    • Sherbet, D.P.1    Tiosano, D.2    Kwist, K.M.3    Hochberg, Z.4    Auchus, R.J.5
  • 27
    • 40949144759 scopus 로고    scopus 로고
    • Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17, 20-lyase activity
    • Tiosano, D., Knopf, C., Koren, I., Levanon, N., Hartmann, M. F., Hochberg, Z., et al. (2008). Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17, 20-lyase activity. European Journal of Endocrinology, 158, 385-392.
    • (2008) European Journal of Endocrinology , vol.158 , pp. 385-392
    • Tiosano, D.1    Knopf, C.2    Koren, I.3    Levanon, N.4    Hartmann, M.F.5    Hochberg, Z.6    Wudy, S.A.7
  • 29
    • 0027230963 scopus 로고
    • Perifusion of rat pituitary cells with gonadotropin-releasing hormone, activin, and inhibin reveals distinct effects on gonadotropin gene expression and secretion
    • Weiss, J., Crowley, W. F., Jr., Halvorson, L. M., & Jameson, J. L. (1993). Perifusion of rat pituitary cells with gonadotropin-releasing hormone, activin, and inhibin reveals distinct effects on gonadotropin gene expression and secretion. Endocrinology, 132, 2307-2311.
    • (1993) Endocrinology , vol.132 , pp. 2307-2311
    • Weiss, J.1    Crowley Jr., W.F.2    Halvorson, L.M.3    Jameson, J.L.4
  • 30
    • 35148880699 scopus 로고    scopus 로고
    • Sexual dimorphism in cortisol secretion starts after age 10 in healthy children: Urinary cortisol metabolite excretion rates during growth
    • Wudy, S. A., Hartmann, M. F., & Remer, T. (2007). Sexual dimorphism in cortisol secretion starts after age 10 in healthy children: urinary cortisol metabolite excretion rates during growth. American Journal of Physiology. Endocrinology and Metabolism, 293, E970-E976.
    • (2007) American Journal of Physiology. Endocrinology and Metabolism , vol.293
    • Wudy, S.A.1    Hartmann, M.F.2    Remer, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.