A Novel Point Mutation of the Human Glucocorticoid Receptor Gene Causes Primary Generalized Glucocorticoid Resistance Through Impaired Interaction With the LXXLL Motif of the p160 Coactivators: Dissociation of the Transactivating and Transreppressive Activities

Abstract excerpt

CONTEXT: Primary generalized glucocorticoid resistance is a rare genetic disorder characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. The molecular basis of the condition has been ascribed to inactivating mutations in the human glucocorticoid receptor (hGR) gene. OBJECTIVE: The objective of the study was to present three new cases caused by a novel mutation in the hGR gene and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Hormones and Disorders
• Share to Estrogen and related hormone effects