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Article

Glucocorticoid Receptor Mutations and Hypersensitivity to Endogenous and Exogenous Glucocorticoids.

The Journal of clinical endocrinology and metabolism - 1 Oct 2018

Santen Richard J, Jewell Christine M, Yue Wei, Heitjan Daniel F, Raff Hershel, Katen Kevin S, Cidlowski John A

Abstract excerpt

Background: The glucocorticoid receptor (GR) consists of two alternatively spliced isoforms: GRα, which activates gene transcription, and GRβ, a dominant-negative receptor. Theoretically, inactivating variants of GRβ could result in glucocorticoid hypersensitivity. Design: A 46-year-old woman presented for evaluation of adrenal insufficiency prompted by low plasma cortisol levels and multiple unexplained symptoms...

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Source

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Identifiers

PMID: 30020469
DOI: 10.1210/jc.2018-00352
PMCID: PMC6179182

Genes

FKBP5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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