A Novel Point Mutation in the DNA-Binding Domain (DBD) of the Human Glucocorticoid Receptor Causes Primary Generalized Glucocorticoid Resistance by Disrupting the Hydrophobic Structure of its DBD

CONTEXT: Primary generalized glucocorticoid resistance is a rare genetic condition characterized by partial end-organ insensitivity to glucocorticoids. Most affected subjects present with clinical manifestations of mineralocorticoid and androgen excess. The condition has been associated with inactiv...

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Main Authors: Roberts, Michael L., Kino, Tomoshige, Nicolaides, Nicolas C., Hurt, Darrell E., Katsantoni, Eleni, Sertedaki, Amalia, Komianou, Filadelfia, Kassiou, Korina, Chrousos, George P., Charmandari, Evangelia
Format: Artigo
Language:Inglês
Published: Endocrine Society 2013
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JCEM Online: Advances in Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3615201/
https://ncbi.nlm.nih.gov/pubmed/23426617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3549
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