-
1
-
-
43249102598
-
Generalized glucocorticoid resistance: Clinical aspects, molecular mechanisms, and implications of a rare genetic disorder
-
Charmandari E, Kino T, Ichijo T, Chrousos GP. Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. J Clin Endocrinol Metab 2008; 93: 1563-1572.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 1563-1572
-
-
Charmandari, E.1
Kino, T.2
Ichijo, T.3
Chrousos, G.P.4
-
3
-
-
77952755679
-
A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain
-
Nader N, Bachrach BE, Hurt DE, Gajula S, Pittman A, Lescher R, et al. A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. J Clin Endocrinol Metab 2010; 95: 2281-2285.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 2281-2285
-
-
Nader, N.1
Bachrach, B.E.2
Hurt, D.E.3
Gajula, S.4
Pittman, A.5
Lescher, R.6
-
4
-
-
75149124307
-
Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1)
-
McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, Pearen MA, et al. Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1). J Clin Endocrinol Metab 2010; 95: 297-302.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 297-302
-
-
McMahon, S.K.1
Pretorius, C.J.2
Ungerer, J.P.3
Salmon, N.J.4
Conwell, L.S.5
Pearen, M.A.6
-
5
-
-
0027232267
-
Identification of the activation-labile gene: A single point mutation in the human glucocorticoid receptor presents as two distinct receptor phenotypes
-
Ashraf J, Thompson EB. Identification of the activation-labile gene: a single point mutation in the human glucocorticoid receptor presents as two distinct receptor phenotypes. Mol Endocrinol 1993; 7: 631-642.
-
(1993)
Mol Endocrinol
, vol.7
, pp. 631-642
-
-
Ashraf, J.1
Thompson, E.B.2
-
6
-
-
1942536210
-
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: Molecular genotype, genetic transmission, and clinical phenotype
-
Charmandari E, Kino T, Souvatzoglou E, Vottero A, Bhattacharyya N, Chrousos GP. Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype. J Clin Endocrinol Metab 2004; 89: 1939-1949.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1939-1949
-
-
Charmandari, E.1
Kino, T.2
Souvatzoglou, E.3
Vottero, A.4
Bhattacharyya, N.5
Chrousos, G.P.6
-
7
-
-
0030179298
-
Cushing's disease preceded by generalized glucocorticoid resistance: Clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation
-
Karl M, Lamberts SW, Koper JW, Katz DA, Huizenga NE, Kino T, et al. Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. Proc Assoc Am Physicians 1996; 108: 296-307.
-
(1996)
Proc Assoc Am Physicians
, vol.108
, pp. 296-307
-
-
Karl, M.1
Lamberts, S.W.2
Koper, J.W.3
Katz, D.A.4
Huizenga, N.E.5
Kino, T.6
-
8
-
-
0036783767
-
Expression of glucocorticoid receptor alpha- and beta-isoforms in human cells and tissues
-
Pujols L, Mullol J, Roca-Ferrer J, Torrego A, Xaubet A, Cidlowski JA, et al. Expression of glucocorticoid receptor alpha- and beta-isoforms in human cells and tissues. Am J Physiol Cell Physiol 2002; 283: C1324-C1331.
-
(2002)
Am J Physiol Cell Physiol
, vol.283
-
-
Pujols, L.1
Mullol, J.2
Roca-Ferrer, J.3
Torrego, A.4
Xaubet, A.5
Cidlowski, J.A.6
-
9
-
-
0022406877
-
Domain structure of human glucocorticoid receptor and its relationship to the v-erb-A oncogene product
-
Weinberger C, Hollenberg SM, Rosenfeld MG, Evans RM. Domain structure of human glucocorticoid receptor and its relationship to the v-erb-A oncogene product. Nature 1985; 318: 670-672.
-
(1985)
Nature
, vol.318
, pp. 670-672
-
-
Weinberger, C.1
Hollenberg, S.M.2
Rosenfeld, M.G.3
Evans, R.M.4
-
10
-
-
3242876293
-
Structure and function of the glucocorticoid receptor ligand binding domain
-
Bledsoe RK, Stewart EL, Pearce KH. Structure and function of the glucocorticoid receptor ligand binding domain. Vitam Horm 2004; 68: 49-91.
-
(2004)
Vitam Horm
, vol.68
, pp. 49-91
-
-
Bledsoe, R.K.1
Stewart, E.L.2
Pearce, K.H.3
-
11
-
-
18444405534
-
Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition
-
Bledsoe RK, Montana VG, Stanley TB, Delves CJ, Apolito CJ, McKee DD, et al. Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition. Cell 2002; 110: 93-105.
-
(2002)
Cell
, vol.110
, pp. 93-105
-
-
Bledsoe, R.K.1
Montana, V.G.2
Stanley, T.B.3
Delves, C.J.4
Apolito, C.J.5
McKee, D.D.6
-
13
-
-
3042754450
-
Familial/sporadic glucocorticoid resistance: Clinical phenotype and molecular mechanisms
-
Charmandari E, Kino T, Chrousos GP. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. Ann N Y Acad Sci 2004; 1024: 168-181.
-
(2004)
Ann N Y Acad Sci
, vol.1024
, pp. 168-181
-
-
Charmandari, E.1
Kino, T.2
Chrousos, G.P.3
-
14
-
-
0035187441
-
Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: Importance of the ligand-binding domain for intracellular GR trafficking
-
Kino T, Stauber RH, Resau JH, Pavlakis GN, Chrousos GP. Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. J Clin Endocrinol Metab 2001; 86: 5600-5608.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5600-5608
-
-
Kino, T.1
Stauber, R.H.2
Resau, J.H.3
Pavlakis, G.N.4
Chrousos, G.P.5
-
15
-
-
0034845924
-
Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance
-
Ruiz M, Lind U, Gafvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, et al. Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endocrinol (Oxf) 2001; 55: 363-371.
-
(2001)
Clin Endocrinol (Oxf)
, vol.55
, pp. 363-371
-
-
Ruiz, M.1
Lind, U.2
Gafvels, M.3
Eggertsen, G.4
Carlstedt-Duke, J.5
Nilsson, L.6
-
16
-
-
21244432841
-
A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: The importance of the C terminus of hGR LBD in conferring transactivational activity
-
Charmandari E, Raji A, Kino T, Ichijo T, Tiulpakov A, Zachman K, et al. A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. J Clin Endocrinol Metab 2005; 90: 3696-3705.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3696-3705
-
-
Charmandari, E.1
Raji, A.2
Kino, T.3
Ichijo, T.4
Tiulpakov, A.5
Zachman, K.6
-
17
-
-
35349002759
-
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance
-
Charmandari E, Kino T, Ichijo T, Jubiz W, Mejia L, Zachman K, et al. A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. J Clin Endocrinol Metab 2007; 92: 3986-3990.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3986-3990
-
-
Charmandari, E.1
Kino, T.2
Ichijo, T.3
Jubiz, W.4
Mejia, L.5
Zachman, K.6
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