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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 signal transduction.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

Functional Characterization of the Natural Human Glucocorticoid Receptor (hGR) Mutants hGRαR477H and hGRαG679S Associated with Generalized Glucocorticoid Resistance