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

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. O...

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Detalhes bibliográficos
Main Authors: Nicolaides, Nicolas C., Roberts, Michael L., Kino, Tomoshige, Braatvedt, Geoffrey, Hurt, Darrell E., Katsantoni, Eleni, Sertedaki, Amalia, Chrousos, George P., Charmandari, Evangelia
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2014
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4010692/
https://ncbi.nlm.nih.gov/pubmed/24483153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2013-3005
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