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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.
Nicolaides, Nicolas C; Roberts, Michael L; Kino, Tomoshige; Braatvedt, Geoffrey; Hurt, Darrell E; Katsantoni, Eleni; Sertedaki, Amalia; Chrousos, George P; Charmandari, Evangelia.
Affiliation
  • Nicolaides NC; Division of Endocrinology, Metabolism, and Diabetes (N.C.N., M.L.R., A.S., G.P.C., E.C.), First Department of Pediatrics, University of Athens Medical School, "Aghia Sophia" Children's Hospital, and Divisions of Endocrinology and Metabolism (N.C.N., M.L.R., A.S., G.P.C., E.C.) and Hematology (E.K.), Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens 11527, Greece; Unit on Molecular Hormone Action (T.K.), Program in Reproductive and Adult Endocrinology, Euni
J Clin Endocrinol Metab ; 99(5): E902-7, 2014 May.
Article in En | MEDLINE | ID: mdl-24483153
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pituitary-Adrenal System / Receptors, Glucocorticoid / Point Mutation / Hypothalamo-Hypophyseal System / Metabolism, Inborn Errors Type of study: Etiology_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pituitary-Adrenal System / Receptors, Glucocorticoid / Point Mutation / Hypothalamo-Hypophyseal System / Metabolism, Inborn Errors Type of study: Etiology_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article