Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Glucocorticoid receptor

The NR3C1 gene encodes the glucocorticoid receptor. Mutations cause autosomal dominant glucocorticoid resistance and may contribute to familial hypertension.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Glucocorticoid resistance
NR3C1
Glucocorticoid triggered hypertension
NR3C1

References:

1.

Muller M et al. (1991) The glucocorticoid receptor.

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2.

Theriault A et al. (1989) Regional chromosomal assignment of the human glucocorticoid receptor gene to 5q31.

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3.

Francke U et al. (1989) The glucocorticoid receptor gene is in 5q31-q32 [corrected].

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4.

Weinberger C et al. (1985) Identification of human glucocorticoid receptor complementary DNA clones by epitope selection.

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5.

Zhang L et al. (2013) ZFP36L2 is required for self-renewal of early burst-forming unit erythroid progenitors.

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6.

Druker J et al. (2013) RSUME enhances glucocorticoid receptor SUMOylation and transcriptional activity.

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7.

Niwa M et al. (2013) Adolescent stress-induced epigenetic control of dopaminergic neurons via glucocorticoids.

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8.

Barik J et al. (2013) Chronic stress triggers social aversion via glucocorticoid receptor in dopaminoceptive neurons.

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9.

Huebner K et al. (1990) Order of genes on human chromosome 5q with respect to 5q interstitial deletions.

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10.

Lamia KA et al. (2011) Cryptochromes mediate rhythmic repression of the glucocorticoid receptor.

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11.

Hollenberg SM et al. () Primary structure and expression of a functional human glucocorticoid receptor cDNA.

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12.

Meijsing SH et al. (2009) DNA binding site sequence directs glucocorticoid receptor structure and activity.

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13.

Finken MJ et al. (2007) The 23K variant of the R23K polymorphism in the glucocorticoid receptor gene protects against postnatal growth failure and insulin resistance after preterm birth.

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14.

Charmandari E et al. (2007) A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

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15.

Jewell CM et al. (2007) Molecular evidence for a link between the N363S glucocorticoid receptor polymorphism and altered gene expression.

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16.

Pepin MC et al. (1992) Impaired type II glucocorticoid-receptor function in mice bearing antisense RNA transgene.

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17.

Encío IJ et al. (1991) The genomic structure of the human glucocorticoid receptor.

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18.

DeRijk RH et al. (2006) A common polymorphism in the mineralocorticoid receptor modulates stress responsiveness.

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19.

van den Akker EL et al. (2006) Glucocorticoid receptor polymorphism affects transrepression but not transactivation.

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20.

Majnik J et al. (2006) Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas.

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21.

Oakley RH et al. (1996) The human glucocorticoid receptor beta isoform. Expression, biochemical properties, and putative function.

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22.

Reichardt HM et al. (1998) DNA binding of the glucocorticoid receptor is not essential for survival.

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23.

Huizenga NA et al. (1998) Human adrenocorticotropin-secreting pituitary adenomas show frequent loss of heterozygosity at the glucocorticoid receptor gene locus.

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24.

Huizenga NA et al. (1998) A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo.

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25.

Koper JW et al. (1997) Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance.

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26.

Roux S et al. (1996) Mutation of isoleucine 747 by a threonine alters the ligand responsiveness of the human glucocorticoid receptor.

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27.

Lind U et al. (1996) Identification of single amino acid substitutions of Cys-736 that affect the steroid-binding affinity and specificity of the glucocorticoid receptor using phenotypic screening in yeast.

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28.

Karl M et al. (1996) Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation.

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29.

Ray DW et al. (1996) Glucocorticoid receptor structure and function in glucocorticoid-resistant small cell lung carcinoma cells.

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30.

Montkowski A et al. (1995) Long-term antidepressant treatment reduces behavioural deficits in transgenic mice with impaired glucocorticoid receptor function.

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31.

Hurley DM et al. (1991) Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance.

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32.

Ashraf J et al. (1993) Identification of the activation-labile gene: a single point mutation in the human glucocorticoid receptor presents as two distinct receptor phenotypes.

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33.

Bamberger CM et al. (1995) Glucocorticoid receptor beta, a potential endogenous inhibitor of glucocorticoid action in humans.

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34.

Kontula K et al. (1980) Glucocorticoid receptors in adrenocorticoid disorders.

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35.

Gehring U et al. (1985) Assignment of the human gene for the glucocorticoid receptor to chromosome 5.

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36.

Weinberger C et al. () Domain structure of human glucocorticoid receptor and its relationship to the v-erb-A oncogene product.

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37.

Carlstedt-Duke J et al. (1987) Domain structure of the glucocorticoid receptor protein.

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38.

Weinberger C et al. (1987) Human steroid receptors and erb-A gene products form a superfamily of enhancer-binding proteins.

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39.

Giuffra LA et al. (1988) Glucocorticoid receptor maps to the distal long arm of chromosome 5.

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40.

Tronche F et al. (1999) Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety.

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41.

Ruiz M et al. (2001) Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance.

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42.

Breslin MB et al. (2001) Multiple promoters exist in the human GR gene, one of which is activated by glucocorticoids.

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43.

Webster JC et al. (2001) Proinflammatory cytokines regulate human glucocorticoid receptor gene expression and lead to the accumulation of the dominant negative beta isoform: a mechanism for the generation of glucocorticoid resistance.

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44.

Dobson MG et al. (2001) The N363S polymorphism of the glucocorticoid receptor: potential contribution to central obesity in men and lack of association with other risk factors for coronary heart disease and diabetes mellitus.

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45.

Strickland I et al. (2001) High constitutive glucocorticoid receptor beta in human neutrophils enables them to reduce their spontaneous rate of cell death in response to corticosteroids.

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46.

Kayes-Wandover KM et al. (2000) Steroidogenic enzyme gene expression in the human heart.

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47.

McNally JG et al. (2000) The glucocorticoid receptor: rapid exchange with regulatory sites in living cells.

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48.

Diamond MI et al. (2000) Regulation of expanded polyglutamine protein aggregation and nuclear localization by the glucocorticoid receptor.

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49.

Rivers C et al. (1999) Insertion of an amino acid in the DNA-binding domain of the glucocorticoid receptor as a result of alternative splicing.

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50.

Hagendorf A et al. (2005) Expression of the human glucocorticoid receptor splice variants alpha, beta, and P in peripheral blood mononuclear leukocytes in healthy controls and in patients with hyper- and hypocortisolism.

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51.

Karl M et al. (1993) Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.

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52.

Chrousos GP et al. (1983) Primary cortisol resistance: a family study.

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53.

Chrousos GP et al. (1982) Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease.

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54.

Iida S et al. (1985) Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family.

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55.

Lamberts SW et al. (1986) Familial cortisol resistance: differential diagnostic and therapeutic aspects.

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56.

Brönnegård M et al. (1986) Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom.

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57.

Lipsett MB et al. (1985) The defective glucocorticoid receptor in man and nonhuman primates.

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58.

Vingerhoeds AC et al. (1976) Spontaneous hypercortisolism without Cushing's syndrome.

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59.

Bray PJ et al. (2003) Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms.

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60.

Welch WJ et al. (2001) Glucocorticoid modulation of androgen receptor nuclear aggregation and cellular toxicity is associated with distinct forms of soluble expanded polyglutamine protein.

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61.

Charmandari E et al. (2006) Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance.

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62.

Russcher H et al. (2005) Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression.

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63.

Revest JM et al. (2005) The MAPK pathway and Egr-1 mediate stress-related behavioral effects of glucocorticoids.

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64.

Charmandari E et al. (2005) A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity.

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65.

Schoneveld OJ et al. (2004) Mechanisms of glucocorticoid signalling.

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66.

van Rossum EF et al. (2004) The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults.

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67.

Wei Q et al. (2004) Glucocorticoid receptor overexpression in forebrain: a mouse model of increased emotional lability.

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68.

van Rossum EF et al. (2004) Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men.

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69.

Tronche F et al. (2004) Glucocorticoid receptor function in hepatocytes is essential to promote postnatal body growth.

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70.

Stevens A et al. (2004) Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype.

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71.

Syed AA et al. (2004) Low prevalence of the N363S polymorphism of the glucocorticoid receptor in South Asians living in the United Kingdom.

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72.

Brewer JA et al. (2003) T-cell glucocorticoid receptor is required to suppress COX-2-mediated lethal immune activation.

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73.

Webster JI et al. (2003) Anthrax lethal factor represses glucocorticoid and progesterone receptor activity.

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74.

van Rossum EF et al. (2002) A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels.

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75.

Bledsoe RK et al. (2002) Crystal structure of the glucocorticoid receptor ligand binding domain reveals a novel mode of receptor dimerization and coactivator recognition.

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76.

Vottero A et al. (2002) A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators.

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77.

Mendonca BB et al. (2002) Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene.

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78.

Kino T et al. (2001) Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking.

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79.

Orphanet article

Orphanet ID 123916 external link
80.

NCBI article

NCBI 2908 external link
81.

OMIM.ORG article

Omim 138040 external link
82.

Wikipedia article

Wikipedia EN (Glucocorticoid_receptor) external link
Update: Aug. 14, 2020
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