Primary cortisol resistance

07/01/2012 - "Type II GCS resistance involves generalized primary cortisol resistance, which affects all tissues and is likely to be associated with a mutation in the glucocorticoid receptor (GCR) gene or in genes that modulate GCR function. "
09/01/2001 - "Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance."
05/01/1993 - "A mutation of the glucocorticoid receptor in primary cortisol resistance."
01/01/1990 - "A glucocorticoid receptor mutation in a subject with primary cortisol resistance."
05/01/1986 - "Decreased glucocorticoid receptors in cultured skin fibroblasts from a patient with primary cortisol resistance."

04/01/1995 - "We have previously shown an increased specific DNA-binding of liganded unactivated glucocorticoid receptor (GR) to the LTR-region of MMTV DNA in a patient with primary cortisol resistance and receptor thermolability indicating a defective interaction of GR with hsp90. "
02/01/1989 - "We describe the analysis of the mRNA and genomic DNA from the Epstein-Barr (EB) virus transformed cells of two siblings with Primary Cortisol Resistance. "
03/01/1987 - "Impaired glucocorticoid effect on deoxyribonucleic acid synthesis in skin fibroblasts from a patient with a new type of primary cortisol resistance."
07/01/1987 - "In vitro studies of skin fibroblasts from a patient with a new type of primary cortisol resistance: glucocorticoid receptor status and glucocorticoid effect on DNA synthesis."

06/01/2002 - "Primary cortisol resistance is a rare, inherited or sporadic form of generalized end-organ insensitivity to glucocorticoids. "
07/01/1987 - "These results suggest that the resistance of target tissues to glucocorticoids is due to the reduction in receptor number and that this is the primary defect in this new type of primary cortisol resistance in man."
03/01/1987 - "Impaired glucocorticoid effect on deoxyribonucleic acid synthesis in skin fibroblasts from a patient with a new type of primary cortisol resistance."
07/01/1987 - "In vitro studies of skin fibroblasts from a patient with a new type of primary cortisol resistance: glucocorticoid receptor status and glucocorticoid effect on DNA synthesis."

09/01/2001 - "We have performed genetic analysis of the glucocorticoid receptor (GR) gene in 12 unrelated patients with primary cortisol resistance as defined by a pathological dexamethasone suppression test. "
05/01/1993 - "In a subject with primary cortisol resistance we have observed glucocorticoid receptors (hGR) with a decreased affinity for dexamethasone. "
06/01/1983 - "Primary cortisol resistance is an autosomal disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing's syndrome. "
01/01/1986 - "Primary cortisol resistance in man is a familial disease characterized by increased plasma cortisol concentrations, high urinary free cortisol excretion, a normal circadian pattern of cortisol secretion, resistance to adrenal suppression by dexamethasone and absence of the clinical stigmata of Cushing's syndrome or signs of adrenal insufficiency. "

06/01/1982 - "We have studied a man suspected of having primary cortisol resistance on the basis of high 24-h mean plasma cortisol levels (27.4 micrograms/dl) and no stigmata of Cushing's syndrome. "
06/01/1983 - "Primary cortisol resistance is an autosomal disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing's syndrome. "
01/01/1986 - "Primary cortisol resistance in man is a familial disease characterized by increased plasma cortisol concentrations, high urinary free cortisol excretion, a normal circadian pattern of cortisol secretion, resistance to adrenal suppression by dexamethasone and absence of the clinical stigmata of Cushing's syndrome or signs of adrenal insufficiency. "

04/01/1994 - "The forms of mineralocorticoid excess considered in the hypokalemic hypertensive patient with low aldosterone values include congenital adrenal hyperplasia (11 beta-hydroxylase and 17alpha-hydroxylase deficiencies), deoxycorticosterone-producing tumor, Cushing's syndrome, primary cortisol resistance, and 11 beta-hydroxysteroid dehydrogenase deficiency (apparent mineralocorticoid excess syndrome). "

01/01/1986 - "The New World primates, unlike men with the syndrome of primary cortisol resistance, have compensated for their condition with intra-adrenal and mineralocorticoid receptor adaptations. "

05/01/1993 - "The isoleucine for valine substitution at amino acid 729 impairs the function of the hGR and is the likely cause of primary cortisol resistance in this subject."

04/01/1994 - "The forms of mineralocorticoid excess considered in the hypokalemic hypertensive patient with low aldosterone values include congenital adrenal hyperplasia (11 beta-hydroxylase and 17alpha-hydroxylase deficiencies), deoxycorticosterone-producing tumor, Cushing's syndrome, primary cortisol resistance, and 11 beta-hydroxysteroid dehydrogenase deficiency (apparent mineralocorticoid excess syndrome). "

02/01/1989 - "We describe the analysis of the mRNA and genomic DNA from the Epstein-Barr (EB) virus transformed cells of two siblings with Primary Cortisol Resistance. "
02/01/1989 - "Abnormal glucocorticoid receptor gene and mRNA in primary cortisol resistance."