Glucocorticoid resistance, generalized; GCCR

Disease ID:396
Name:Glucocorticoid resistance, generalized; GCCR
Associated with:1 target
Database Links
OMIM: 615962
Orphanet: ORPHA786

Targets

Glucocorticoid receptor
Comments:  Glucocorticoid resistance has been attributed to various mutations in the glucocorticoid receptor
References:  1-2
Mutations:  Glucocorticoid receptor is associated with 8 mutation. Click here for details

Ligands

No ligand related data available for Glucocorticoid resistance, generalized; GCCR

References

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1. Bray PJ, Cotton RG. (2003) Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum. Mutat., 21 (6): 557-68. [PMID:12754700]

2. Brönnegård M, Stierna P, Marcus C. (1996) Glucocorticoid resistant syndromes--molecular basis and clinical presentations. J. Neuroendocrinol., 8 (6): 405-15. [PMID:8809670]

3. Hurley DM, Accili D, Stratakis CA, Karl M, Vamvakopoulos N, Rorer E, Constantine K, Taylor SI, Chrousos GP. (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 (2): 680-6. [PMID:1704018]

4. Karl M, Lamberts SW, Detera-Wadleigh SD, Encio IJ, Stratakis CA, Hurley DM, Accili D, Chrousos GP. (1993) Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J. Clin. Endocrinol. Metab., 76 (3): 683-9. [PMID:8445027]

5. Kino T, Stauber RH, Resau JH, Pavlakis GN, Chrousos GP. (2001) 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., 86 (11): 5600-8. [PMID:11701741]

6. Koper JW, Stolk RP, de Lange P, Huizenga NA, Molijn GJ, Pols HA, Grobbee DE, Karl M, de Jong FH, Brinkmann AO et al.. (1997) Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. Hum. Genet., 99 (5): 663-8. [PMID:9150737]

7. Mendonca BB, Leite MV, de Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP, Latronico AC. (2002) Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. J. Clin. Endocrinol. Metab., 87 (4): 1805-9. [PMID:11932321]

8. Vottero A, Kino T, Combe H, Lecomte P, Chrousos GP. (2002) A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. J. Clin. Endocrinol. Metab., 87 (6): 2658-67. [PMID:12050230]