TLDR Mutations in certain receptors can cause diseases and offer new treatment options.
The document reviewed recent advances in understanding the structure-and-function relationship of steroid nuclear receptors, particularly focusing on the androgen receptor (AR) and its dysregulation in prostate cancer (PCa) and androgen insensitivity syndromes (AIS). It also discussed conditions linked to mutations in the glucocorticoid receptor (GR) gene and the thyroid hormone receptor (TR). The review highlighted the implications of these findings for the etiology of human diseases and explored potential novel and selective therapeutic strategies based on these insights.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
15 citations
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April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
47 citations
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February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
299 citations
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March 2001 in “Journal of Investigative Dermatology” Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
25 citations
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
