rs56149945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We evaluate the prevalence of the four GR (NR3C1) polymorphisms BclI, N363S, ER22/23EK, and A3669G in patients with Cushing's syndrome (CS) compared with healthy controls (HC) and we investigate their role in the development of metabolic abnormalities in patients with CS according to their hormonal profile.
|
22048965 |
2012 |
rs56149945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To compare the frequency of N363S, ER22/23EK and BclI SNPs in patients with AI with the general population and to evaluate whether these SNPs are linked to consequences of cortisol excess.
|
27649075 |
2016 |
rs56149945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS).
|
26873309 |
2016 |
rs56149945
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To evaluate the effects of glucocorticoid receptor (GR) polymorphisms (BclI, N363S, ER22/23EK and A3669G) which influence peripheral glucocorticoid sensitivity on muscular function in endogenous CS.
|
31613324 |
2020 |
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Accordingly, biochemical Cushing's syndrome was present only in the patient with the p.Leu206Arg mutation.
|
27270477 |
2016 |
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Of the 13 patients with CPA who showed overt Cushing's syndrome, 3 (23%) had recurrent somatic mutations of the PRKACA gene, p.L206R (c.617 T>G), and there were no mutations in subclinical Cushing's syndrome.
|
25069672 |
2014 |
rs386352352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report a hotspot mutation (L206R) in PRKACA, which encodes the catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA), in more than 50% of cases with adrenocortical adenomas associated with corticotropin-independent Cushing's syndrome.
|
24855271 |
2014 |
rs11554273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the 15 (13%) CPAs with overt Cushing's syndrome and one of the 9 (11%) CPAs with subclinical Cushing's syndrome examined had the somatic mutations, p.R201S and p.R201C in the GNAS gene.
|
26743443 |
2016 |
rs1333998849
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novel heterozygous missense NR3C1 mutations (R477S, Y478C, and L672P) were identified in patients presenting with adrenal incidentalomas, glucocorticoid excess without Cushing syndrome.
|
27120390 |
2016 |
rs41423247
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS).
|
26873309 |
2016 |
rs6189
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS).
|
26873309 |
2016 |
rs6190
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS).
|
26873309 |
2016 |
rs6198
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To evaluate the presence of GR polymorphisms (BclI (rs41423247), N363S (rs56149945), ER22/23EK (rs6189/rs6190), and 9β (rs6198) and investigate their associations with metabolic alterations in patients in long-term remission of Cushing's syndrome (CS).
|
26873309 |
2016 |
rs76308115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of these, located in the phosphodiesterase 11A (PDE11A) gene (R307X), has previously been reported to cause loss of PDE11A function and Cushing's syndrome in female carriers.
|
26820475 |
2016 |