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

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 5, 2014, Pages

  Nicolaides, Nicolas C ^a,b   Roberts, Michael L ^a,b   Kino, Tomoshige ^c   Braatvedt, Geoffrey ^e   Hurt, Darrell E ^d   Katsantoni, Eleni ^b   Sertedaki, Amalia ^a,b   Chrousos, George P ^a,b   Charmandari, Evangelia ^a,b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^d NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^e UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

DEXAMETHASONE; GLYCINE; HYDROCORTISONE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; NUCLEAR RECEPTOR COACTIVATOR 2; VALINE;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL EVALUATION; CONTROLLED STUDY; CUSHING SYNDROME; DEXAMETHASONE SUPPRESSION TEST; DISSOCIATION; GENE REPRESSION; GENETIC DISORDER; HETEROZYGOSITY; HGR GENE; HIRSUTISM; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYDROCORTISONE URINE LEVEL; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; IN VITRO STUDY; LIGAND BINDING; LXXLL MOTIF; MALE; MOLECULAR INTERACTION; MOLECULAR MODEL; POINT MUTATION; PRIMARY GENERALIZED GLUCOCORTICOID RESISTANCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DNA BINDING; PROTEIN DOMAIN; PROTEIN MOTIF; SIGNAL TRANSDUCTION; STRUCTURE ANALYSIS; TRANSACTIVATION; TRANSACTIVATION ASSAY; TRANSREPRESSION;

ADULT; AGED; BINDING SITES; FEMALE; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; PITUITARY-ADRENAL SYSTEM; POINT MUTATION; RECEPTORS, GLUCOCORTICOID;

EID: 84899991790     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3005     Document Type: Article

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