91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
January 2008 in “US endocrinology” This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.