메뉴 건너뛰기




Volumn 124, Issue 4, 2011, Pages 551-555

Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene

Author keywords

Adrenal adenoma; Gene mutation; Generalized glucocorticoid resistance; Glucocorticoid receptor

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; GENOMIC DNA; GLUCOCORTICOID RECEPTOR ALPHA; HYDROCORTISONE; ISOLEUCINE; RNA; THREONINE;

EID: 79951791940     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2011.04.013     Document Type: Article
Times cited : (28)

References (17)
  • 1
    • 43249102598 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 9
    • 0022406877 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 12
    • 0037024524 scopus 로고    scopus 로고
    • Familial/sporadic glucocorticoid resistance syndrome and hypertension
    • Kino T, Vottero A, Charmandari E, Chrousos GP. Familial/sporadic glucocorticoid resistance syndrome and hypertension. Ann N Y Acad Sci 2002; 970: 101-111.
    • (2002) Ann N Y Acad Sci , vol.970 , pp. 101-111
    • Kino, T.1    Vottero, A.2    Charmandari, E.3    Chrousos, G.P.4
  • 13
    • 3042754450 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.