Glukokortikoid-Rezeptor
Das NR3C1-Gen kodiert den Glukokortikoid-Rezeptor. Mutationen sind für die autosomal dominante Glukokortikoidresistenz und erbliche Hypertonusformen verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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80. |
NCBI article
NCBI 2908
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81. |
OMIM.ORG article
Omim 138040
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Update: 14. August 2020