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.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
1 citations
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November 2008 in “Acta crystallographica” This study reports the crystallization of the human androgen receptor's ligand-binding domain with nonsteroidal ligands, which may aid in understanding the differences in binding compared to steroidal ligands.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.
April 2019 in “Journal of the Endocrine Society” This case report documents successful virilization, including penile length increase, in a boy with partial androgen insensitivity syndrome using high-dose testosterone combined with anastrozole.