Article

A Novel Patient-Derived Mutation in Glucocorticoid Receptor Reveals an Essential Role for DNA binding in Development and Endocrine Regulation

2025-12-13

Abstract excerpt

Glucocorticoid receptors (GRs) are vital transcription factors regulating stress responses, metabolism, and development. We report here a novel heterozygous NR3C1 c.1310C>T (p.T437I) variant within the GR DNA-binding domain found in a family exhibiting clinical and hormonal manifestations of partial glucocorticoid resistance. Patient-derived fibroblasts demonstrated an overall suppression in dexamethasone-induced...

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Literature Corpus work: fae78470-982b-5db4-a11e-1deafff90ae4
DOI: 10.64898/2025.12.12.693739

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