Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We recently identified somatic mutations in PRKACA, the gene encoding the catalytic (C) α subunit of protein kinase A (PKA), as being responsible for cortisol-producing adrenocortical adenomas (CPAs), which are a major cause of Cushing syndrome.
|
30615103 |
2019 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome.
|
31276155 |
2019 |
Cushing Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
PRKACA-mutant adenomas were associated with young age, overt Cushing's syndrome and high cortisol levels compared with non-PRKACA-mutant or CTNNB1-mutant lesions.
|
27296931 |
2016 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified several mutations in genes of the cAMP/protein kinase A pathway, including three novel mutations in PRKACA, associated with female sex and Cushing's syndrome.
|
27389594 |
2016 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Targeting PRKACA mutations is promising in treating CS caused by adrenal adenomas.
|
27454103 |
2016 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Constitutional chromosomal PRKACA gene amplification is a recently identified genetic defect associated with CS, a trait that may be inherited in an autosomal dominant manner or occur de novo.
|
25924874 |
2015 |
Cushing Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Germline PRKACA amplification leads to Cushing syndrome caused by 3 adrenocortical pathologic phenotypes.
|
25449630 |
2015 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PRKACA-mutant lesions were associated with younger age, overt Cushing's syndrome, and higher cortisol levels vs non-PRKACA-mutant or CTNNB1-mutant lesions.
|
25750087 |
2015 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Despite somatic PRKACA mutations being a common finding in patients with clinically manifest Cushing's syndrome, the pathogenesis of adrenocortical adenomas associated with subclinical hypercortisolism seems to rely on a different molecular background.
|
26139209 |
2015 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome.
|
26130139 |
2015 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
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 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PRKACA heterozygous mutations were found in 22/64 samples of Cushing's syndrome patients (34%).
|
25057884 |
2014 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrated that 1) the prevalence of Japanese patients with CPA who showed overt Cushing's syndrome and whose somatic mutations in the PRKACA gene was similar to that in Western countries, 2) the mutation might be specific for CPAs causing overt Cushing's syndrome, and 3) the mutant PRKACA allele was expressed appropriately in CPAs.
|
25069672 |
2014 |
Cushing Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overall, PRKACA somatic mutations were identified in 22 of 59 unilateral adenomas (37%) from patients with overt Cushing's syndrome; these mutations were not detectable in 40 patients with subclinical hypercortisolism or in 82 patients with other adrenal tumors.
|
24571724 |
2014 |