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References

  • 1
    Clark, A.J.L. & Weber, A. (1998) Adrenocorticotropin insensitivity syndromes. Endocrine Reviews, 19, 828843.
  • 2
    Clark, A.J.L., Metherell, L.A., Cheetham, M.E. & Huebner, A. (2005) Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends in Endocrinology and Metabolism, 16, 451457.
  • 3
    Clark, A.J.L., McLoughlin, L. & Grossman, A. (1993) Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet, 341, 461462.
  • 4
    Tsigos, C., Arai, K., Hung, W. & Chrousos, G.P. (1993) Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor. Journal of Clinical Investigation, 92, 24582461.
  • 5
    Clark, A.J.L. & Weber, A. (1994) Molecular insights into inherited ACTH resistance syndromes. Trends in Endocrinology and Metabolism, 5, 209214.
  • 6
    Weber, A., Toppari, J., Harvey, R.D., Klann, R.C., Shaw, N.J., Ricker, A.T., Nanto-Salonen, K., Bevan, J.S. & Clark, A.J.L. (1995) Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. Journal of Clinical Endocrinology and Metabolism, 80, 6571.
  • 7
    Naville, D., Barjhoux, L., Jaillard, C., Faury, D., Despert, F., Esteva, B., Durand, P., Saez, J.M. & Begeot, M. (1996) Demonstration by transfection studies that mutations in the adrenocorticotropin receptor are one cause of the hereditary syndrome of glucocorticoid deficiency. Journal of Clinical Endocrinology and Metabolism, 81, 14421448.
  • 8
    Slavotinek, A.M., Hurst, J.A., Dunger, D. & Wilkie, A.O. (1998) ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clinical Genetics, 53, 5762.
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  • 9
    Ishii, T., Ogata, T., Sasaki, G., Sato, S., Kinoshita, E. & Matsuo, N. (2000) Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clinical Endocrinology, 53, 389392.
  • 10
    Elias, L.L., Huebner, A., Pullinger, G.D., Mirtella, A. & Clark, A.J. (1999) Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. Journal of Clinical Endocrinology and Metabolism, 84, 27662770.
  • 11
    Flück, C.E., Martens, J.W.M., Conte, F.A. & Miller, W.L. (2002) Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. Journal of Clinical Endocrinology and Metabolism, 87, 43184323.
  • 12
    Elias, L.L., Huebner, A., Metherell, L.A., Canas, A., Warne, G.L., Bitti, M.L., Cianfarani, S., Clayton, P.E., Savage, M.O. & Clark, A.J. (2000) Tall stature in familial glucocorticoid deficiency. Clinical Endocrinology, 53, 423430.
  • 13
    Xia, Y. & Wikberg, J.E. (1996) Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland. Cell and Tissue Research, 286, 6368.
  • 14
    Reincke, M., Beuschlein, F., Menig, G., Hofmockel, G., Arlt, W., Lehmann, R., Karl, M. & Allilio, B. (1998) Localization and expression of adrenocorticotropic hormone mRNA in normal and neoplastic human adrenal cortex. Journal of Endocrinology, 156, 415423.
  • 15
    Arvat, E., Di Vito, L., Lanfranco, F., Maccario, M., Baffoni, C., Rossetto, R., Aimaretti, G., Camanni, F. & Ghigo, E. (2000) Stimulatory effect of adrenocorticotropin on cortisol, aldosterone and dehydroepiandrosterone secretion in normal humans: dose–response study. Journal of Clinical Endocrinology and Metabolism, 85, 31413146.
  • 16
    Kowarski, A.A., Katz, H. & Migeon, C.J. (1974) Plasma aldosterone concentration in normal subjects from infancy to adulthood. Journal of Clinical Endocrinology and Metabolism, 38, 489491.
  • 17
    Sippell, W.G., Dorr, H.G., Bidlingmaier, F. & Knorr, D. (1980) Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood. Pediatric Research, 14, 3946.
  • 18
    Rosler, A. (1984) The natural history of salt-wasting disorders of adrenal and renal origin. Journal of Clinical Endocrinology and Metabolism, 59, 689700.
  • 19
    Reutens, A.T., Achermann, J.C., Ito, M., Ito, M., Gu, W.X., Habiby, R.L., Donohoue, P.A., Pang, S., Hindmarsh, P.C. & Jameson, J.L. (1999) Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. Journal of Clinical Endocrinology and Metabolism, 84, 504511.
  • 20
    Menard, J. & Catt, K.J. (1972) Measurement of renin activity, concentration and substrate in rat plasma by radioimmunoassay of angiotensin I. Endocrinology, 90, 422430.
  • 21
    Dillon, M.J. (1975) Measurement of plasma renin activity by semi-micro radioimmunoassay of generated angiotensin I. Journal of Clinical Pathology, 28, 625630.
  • 22
    Lin, L. & Achermann, J.C. (2004) Inherited adrenal hypoplasia: Not just for kids! Clinical Endocrinology, 60, 529537.
  • 23
    Fujieda, K. & Tajima, T. (2005) Molecular basis of adrenal insufficiency. Pediatric Research, 57, 6269.
  • 24
    Spark, R.F. & Etzkorn, J.R. (1977) Absent aldosterone response to ACTH in familial glucocorticoid deficiency. New England Journal of Medicine, 297, 917920.
  • 25
    Davidai, G., Kahana, L. & Hochberg, Z. (1984) Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH. Clinical Endocrinology, 20, 515520.
  • 26
    Handschug, K., Sperling, S., Yoon, S.J., Hennig, S., Clark, A.J. & Huebner, A. (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Human Molecular Genetics, 10, 281290.
  • 27
    Metherell, L.A., Chapple, J.P., Cooray, S., David, A., Becker, C., Ruschendorf, F., Naville, D., Begeot, M., Khoo, B., Nurnberg, P., Huebner, A., Cheetham, M.E. & Clark, A.J. (2005) Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nature Genetics, 37, 166170.
  • 28
    Clyne, C.D., Zhang, Y., Slutsker, L., Mathis, J.M., White, P.C. & Rainey, W.E. (1997) Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements. Molecular Endocrinology, 11, 638649.
  • 29
    Bassett, M.H., White, P.C. & Rainey, W.E. (2004) The regulation of aldosterone synthase expression. Molecular and Cellular Endocrinology, 217, 6774.