Charmandari E, Kino T, Ichijo T, Chrousos GP (2008) Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder. J Clin Endocrinol Metab 93:1563–1572. https://doi.org/10.1210/jc.2008-0040

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nicolaides NC, Kino T, Roberts ML, Katsantoni E, Sertedaki A, Moutsatsou P, Psarra AG, Chrousos GP, Charmandari E (2017) The role of S-palmitoylation of the human glucocorticoid receptor (hGR) in mediating the nongenomic glucocorticoid actions. J Mol Biochem 6:3–12

CAS  PubMed  PubMed Central  Google Scholar 

Ruiz M, Lind U, Gåfvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikström AC, Werner S (2001) Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endocrinol (Oxf) 55:363–371. https://doi.org/10.1046/j.1365-2265.2001.01323.x

Article  CAS  PubMed  Google Scholar 

Kino T, Vottero A, Charmandari E, Chrousos GP (2002) Familial/sporadic glucocorticoid resistance syndrome and hypertension. Ann N Y Acad Sci 970:101–111. https://doi.org/10.1111/j.1749-6632.2002.tb04416.x

Article  CAS  PubMed  Google Scholar 

Vitellius G, Lombes M (2020) Genetics in endocrinology: glucocorticoid resistance syndrome. Eur J Endocrinol 182:R15–R27. https://doi.org/10.1530/EJE-19-0811

Article  CAS  PubMed  Google Scholar 

Charmandari E, Kino T, Chrousos GP (2004) Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms. Ann N Y Acad Sci 1024:168–181. https://doi.org/10.1196/annals.1321.014

Article  CAS  PubMed  Google Scholar 

Huizenga NA, de Lange P, Koper JW, de Herder WW, Abs R, Kasteren JH, de Jong FH, Lamberts SW (2000) Five patients with biochemical and/or clinical generalized glucocorticoid resistance without alterations in the glucocorticoid receptor gene. J Clin Endocrinol Metab 85:2076–2081. https://doi.org/10.1210/jcem.85.5.6542

Article  CAS  PubMed  Google Scholar 

Charmandari E, Ichijo T, Jubiz W, Baid S, Zachman K, Chrousos GP, Kino T (2008) A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression. J Clin Endocrinol Metab 93:4963–4968. https://doi.org/10.1210/jc.2008-0892

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lin L, Wu X, Hou Y, Zheng F, Xu R (2019) A novel mutation in the glucocorticoid receptor gene causing resistant hypertension: a case report. Am J Hypertens 32:1126–1128. https://doi.org/10.1093/ajh/hpz137

Article  PubMed  Google Scholar 

Tatsi C, Xekouki P, Nioti O, Bachrach B, Belyavskaya E, Lyssikatos C, Stratakis CA (2019) A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy. J Hypertens 37:1475–1481. https://doi.org/10.1097/HJH.0000000000002048

Article  CAS  PubMed  PubMed Central  Google Scholar 

Danielian PS, White R, Lees JA, Parker MG (1992) Identification of a conserved region required for hormone-dependent transcriptional activation by steroid hormone receptors. EMBO J 11:1025–1033. https://doi.org/10.1002/j.1460-2075.1992.tb05141.x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mackeh R, Marr AK, Dargham SR, Syed N, Fakhro KA, Kino T (2017) Single-nucleotide variations of the human nuclear hormone receptor genes in 60,000 individuals. J Endocr Soc 2:77–90. https://doi.org/10.1210/js.2017-00406

Article  CAS  PubMed  PubMed Central  Google Scholar 

Härd T, Kellenbach E, Boelens R, Maler BA, Dahlman K, Freedman LP, Carlstedt-Duke J, Yamamoto KR, Gustafsson JA, Kaptein R (1990) Solution structure of the glucocorticoid receptor DNA-binding domain. Science 249:157–160. https://doi.org/10.1126/science.2115209

Article  PubMed  Google Scholar 

Bledsoe RK, Montana VG, Stanley TB, Delves CJ, Apolito CJ, McKee DD, Consler TG, Parks DJ, Stewart EL, Willson TM, Lambert MH, Moore JT, Pearce KH, Xu HE (2002) Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition. Cell 110:93–105. https://doi.org/10.1016/s0092-8674(02)00817-6

Article  CAS  PubMed  Google Scholar 

Paragliola RM, Costella A, Corsello A, Urbani A, Concolino P (2020) A novel pathogenic variant in the N-terminal domain of the glucocorticoid receptor, causing glucocorticoid resistance. Mol Diagn Ther 24:473–485. https://doi.org/10.1007/s40291-020-00480-9

Article  CAS  PubMed  Google Scholar 

Mauri S, Nieto-Moragas J, Obón M, Oriola J (2024) The glucocorticoid resistance syndrome: two cases of a novel pathogenic variant in the glucocorticoid receptor gene. JCEM Case Rep 2:luad153. https://doi.org/10.1210/jcemcr/luad153

Article  PubMed  PubMed Central  Google Scholar 

Verouti S, Hummler E, Vanderriele PE (2022) Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia. Pflugers Arch Eur J Physiol 474:829–840. https://doi.org/10.1007/s00424-022-02715-6

Article  CAS  Google Scholar 

-Karl M, Lamberts SW, Detera-Wadleigh SD, Encio IJ, Stratakis CA, Hurley DM, Accili D, Chrousos GP (1993) Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J Clin Endocrinol Metab 76:683–689. https://doi.org/10.1210/jcem.76.3.8445027

Article  CAS  PubMed  Google Scholar 

Molnár Á, Patócs A, Likó I, Nyírő G, Rácz K, Tóth M, Sármán B (2018) An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation: case report and review of the literature. BMC Med Genet 19:37. https://doi.org/10.1186/s12881-018-0552-6

Article  CAS  PubMed  PubMed Central  Google Scholar 

Al Argan R, Saskin A, Yang JW, D’Agostino MD, Rivera J (2018) Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation. Endocr J 65:1139–1146. https://doi.org/10.1507/endocrj.EJ18-0135

Article  CAS  PubMed  Google Scholar