Article
Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance.
The Journal of clinical endocrinology and metabolism - 1 Apr 2006
Charmandari Evangelia, Kino Tomoshige, Ichijo Takamasa, Zachman Keith, Alatsatianos Anton, Chrousos George P
Abstract excerpt
BACKGROUND: Glucocorticoid resistance is often a result of mutations in the human glucocorticoid receptor alpha (hGRalpha) gene, which impair one or more of hGRalpha's functions. We investigated the molecular mechanisms through which two previously described mutant receptors, hGRalphaR477H and hGRalphaG679S, with amino acid substitutions in the DNA- and ligand-binding domains, respectively, affect glucocorticoid...
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