Glucocorticoid receptors and Cushing's disease

Molecular and Cellular Endocrinology - Tập 197 - Trang 69-72 - 2002
S.W.J Lamberts1
1Department of Medicine, Erasmus University Rotterdam, Rotterdam, The Netherlands

Tài liệu tham khảo

Chrousos, 1993, Syndromes of glucocorticoid resistance, Ann. Int. Med., 11, 1113, 10.7326/0003-4819-119-11-199312010-00009 Chrousos, 1983, Primary cortisol resistance: a family study, J. Clin. Endocrinol. Metab., 56, 1243, 10.1210/jcem-56-6-1243 Dahia, 1999, 20, 136 Huizenga, 1998, Interperson variability but intraperson stability of baseline plasma cortisol concentrations, and its relation to feedback sensitivity of the hypothalamo-pituitary-adrenal axis to a low-dose of dexamethasone in elderly individuals, J. Clin. Endocrinol. Metab., 83, 47, 10.1210/jc.83.1.47 Huizenga, 1998, A polymorphism in the glucocorticoid receptor may be associated with an increased sensitivity in vivo, J. Clin. Endocrinol. Metab., 83, 144, 10.1210/jc.83.1.144 Huizenga, 1998, Human ACTH secreting pituitary adenomas show frequent loss of heterozygosity at the glucocorticoid receptor gene locus, J. Clin. Endocrinol. Metab., 83, 917, 10.1210/jc.83.3.917 Huizenga, 2000, Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene, J. Clin. Endocrinol. Metab., 85, 2076, 10.1210/jc.85.5.2076 Hurley, 1991, Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance, J. Clin. Invest., 87, 680, 10.1172/JCI115046 Karl, 1993, Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene, J. Clin. Endocrinol. Metab., 76, 683, 10.1210/jc.76.3.683 Karl, 1996, Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-neagtive glucocorticoid receptor mutation, Proc. Assoc. Am. Phys., 108, 296 Koper, 1997, Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance, Hum. Genet., 99, 663, 10.1007/s004390050425 Lamberts, 1986, Familial cortisol resistance: differential diagnostic and therapeutic aspects, J. Clin. Endocrinol. Metab., 63, 1328, 10.1210/jcem-63-6-1328 Lamberts, 1992, Cortisol receptor resistance: the variability of its clinical presentation and response to treatment, J. Clin. Endocrinol. Metab., 74, 313, 10.1210/jc.74.2.313 Lin, 1999, High penetrance, overweight and glucocorticoid receptor vriant: case–control study, Br. Med. J., 319, 1337, 10.1136/bmj.319.7221.1337 Malchoff, 1990, Primary cortisol resistance presenting as isosexual precocity, J. Clin. Endocrinol. Metab., 70, 503, 10.1210/jcem-70-2-503 Malchoff, 1993, A mutation of the glucocorticoid receptor in primary cortisol resistance, J. Clin. Invest., 91, 1918, 10.1172/JCI116410 Mendonca, 1999, 273 New, 1999, Resistance to several steroids in two sisters, J. Clin. Endocrinol. Metab., 84, 4454, 10.1210/jc.84.12.4454 Ruiz, 2001, Characterization of two novel mutations in the glucorticoid receptor gene in patients with primary cortisol resistance, Clin. Endocrinol., 55, 363, 10.1046/j.1365-2265.2001.01323.x Vottero, 1999