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Items: 1 to 20 of 116

1.

A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.

Nader N, Bachrach BE, Hurt DE, Gajula S, Pittman A, Lescher R, Kino T.

J Clin Endocrinol Metab. 2010 May;95(5):2281-5. doi: 10.1210/jc.2009-2463. Epub 2010 Mar 24.

2.

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

Charmandari E, Kino T, Ichijo T, Jubiz W, Mejia L, Zachman K, Chrousos GP.

J Clin Endocrinol Metab. 2007 Oct;92(10):3986-90. Epub 2007 Jul 17.

PMID:
17635946
3.

A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.

Nicolaides NC, Roberts ML, Kino T, Braatvedt G, Hurt DE, Katsantoni E, Sertedaki A, Chrousos GP, Charmandari E.

J Clin Endocrinol Metab. 2014 May;99(5):E902-7. doi: 10.1210/jc.2013-3005. Epub 2014 Jan 31.

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Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

Mendonca BB, Leite MV, de Castro M, Kino T, Elias LL, Bachega TA, Arnhold IJ, Chrousos GP, Latronico AC.

J Clin Endocrinol Metab. 2002 Apr;87(4):1805-9.

PMID:
11932321
7.

Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).

McMahon SK, Pretorius CJ, Ungerer JP, Salmon NJ, Conwell LS, Pearen MA, Batch JA.

J Clin Endocrinol Metab. 2010 Jan;95(1):297-302. doi: 10.1210/jc.2009-1003. Epub 2009 Nov 20.

PMID:
19933394
8.

Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

Ruiz M, Lind U, Gåfvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikström AC, Werner S.

Clin Endocrinol (Oxf). 2001 Sep;55(3):363-71.

PMID:
11589680
9.

A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.

Roberts ML, Kino T, Nicolaides NC, Hurt DE, Katsantoni E, Sertedaki A, Komianou F, Kassiou K, Chrousos GP, Charmandari E.

J Clin Endocrinol Metab. 2013 Apr;98(4):E790-5. doi: 10.1210/jc.2012-3549. Epub 2013 Feb 20.

10.

Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.

Trebble P, Matthews L, Blaikley J, Wayte AW, Black GC, Wilton A, Ray DW.

J Clin Endocrinol Metab. 2010 Dec;95(12):E490-9. doi: 10.1210/jc.2010-0705. Epub 2010 Sep 22.

11.

Doubling the size of the glucocorticoid receptor ligand binding pocket by deacylcortivazol.

Suino-Powell K, Xu Y, Zhang C, Tao YG, Tolbert WD, Simons SS Jr, Xu HE.

Mol Cell Biol. 2008 Mar;28(6):1915-23. Epub 2007 Dec 26.

12.

Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism.

Witchel SF, Smith RR.

Mol Genet Metab. 1999 Feb;66(2):137-41.

PMID:
10068517
13.

Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.

Bouligand J, Delemer B, Hecart AC, Meduri G, Viengchareun S, Amazit L, Trabado S, Fève B, Guiochon-Mantel A, Young J, Lombès M.

PLoS One. 2010 Oct 22;5(10):e13563. doi: 10.1371/journal.pone.0013563.

14.

A novel mutation of the hGR gene causing Chrousos syndrome.

Nicolaides NC, Geer EB, Vlachakis D, Roberts ML, Psarra AM, Moutsatsou P, Sertedaki A, Kossida S, Charmandari E.

Eur J Clin Invest. 2015 Aug;45(8):782-91. doi: 10.1111/eci.12470. Epub 2015 Jul 14.

PMID:
26031419
16.

Functional analysis of R651 mutations in the putative helix 6 of rat glucocorticoid receptors.

Huang Y, Simons SS Jr.

Mol Cell Endocrinol. 1999 Dec 20;158(1-2):117-30.

PMID:
10630412
17.

Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype.

Charmandari E, Kino T, Souvatzoglou E, Vottero A, Bhattacharyya N, Chrousos GP.

J Clin Endocrinol Metab. 2004 Apr;89(4):1939-49.

PMID:
15070967
18.

Mutation of isoleucine 747 by a threonine alters the ligand responsiveness of the human glucocorticoid receptor.

Roux S, Térouanne B, Balaguer P, Jausons-Loffreda N, Pons M, Chambon P, Gronemeyer H, Nicolas JC.

Mol Endocrinol. 1996 Oct;10(10):1214-26.

PMID:
9121489
19.

A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.

Charmandari E, Ichijo T, Jubiz W, Baid S, Zachman K, Chrousos GP, Kino T.

J Clin Endocrinol Metab. 2008 Dec;93(12):4963-8. doi: 10.1210/jc.2008-0892. Epub 2008 Sep 30.

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