A Novel Point Mutation in Helix 11 of the Ligand-Binding Domain of the Human Glucocorticoid Receptor Gene Causing Generalized Glucocorticoid Resistance | Zendy

Evangelia Charmandari | Zendy; Tomoshige Kino | Zendy; Takamasa Ichijo | Zendy; William Jubiz | Zendy; Liliana María Cardona Mejía | Zendy; Keith Zachman | Zendy; George P. Chrousos | Zendy

Open Access

A Novel Point Mutation in Helix 11 of the Ligand-Binding Domain of the Human Glucocorticoid Receptor Gene Causing Generalized Glucocorticoid Resistance

Author(s) -

Evangelia Charmandari,

Tomoshige Kino,

Takamasa Ichijo,

William Jubiz,

Liliana María Cardona Mejía,

Keith Zachman,

George P. Chrousos

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2830

Subject(s) - glucocorticoid receptor , glucocorticoid , coactivator , nuclear receptor coactivator 2 , biology , nuclear receptor , point mutation , endocrinology , receptor , mutant , ligand (biochemistry) , medicine , microbiology and biotechnology , gene , biochemistry , transcription factor

Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in adrenocorticotropic hormone and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We have identified a new case of glucocorticoid resistance caused by a novel mutation of the human glucocorticoid receptor (hGR) gene and studied the molecular mechanisms through which the mutant receptor impairs glucocorticoid signal transduction.

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