|
Cholangiocarcinoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
For example, IDH catalytic site mutations and constitutively active FGFR2 fusion genes are predominantly identified in iCCA, whereas KRAS mutations and PRKACB fusions genes are identified in pCCA and dCCA.
|
28844952 |
2018 |
|
Cholangiocarcinoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Promising candidates for targeted, personalized therapy have emerged, including potential driver fibroblast growth factor receptor (FGFR) gene fusions and somatic mutations in isocitrate dehydrogenase (IDH)1/2 in iCCA, protein kinase cAMP-activated catalytic subunit alpha (PRKACA) or beta (PRKACB) gene fusions in pCCA, and ELF3 mutations in dCCA/ampullary carcinoma.
|
28389139 |
2017 |
|
Cholangiocarcinoma
|
0.320 |
Biomarker
|
disease |
CTD_human |
Genomic spectra of biliary tract cancer.
|
26258846 |
2015 |
|
Intrahepatic Cholangiocarcinoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Intrahepatic cholangiocarcinomas are most likely to harbor mutations in isocitrate dehydrogenase genes (IDH1, IDH2), fibroblast growth factor receptors (FGFR1, FGFR2, FGFR3), Eph receptor 2 (EPHA2), and BAP1 (gene involved in chromatin remodeling) genes, whereas ARID1B, ELF3, PBRM1, cAMP dependent protein kinase (PRKACA, and PRKACB) genetic mutations were implicated more commonly in distal and perihilar subtypes.
|
31255945 |
2019 |
|
Cushing Syndrome
|
0.310 |
Biomarker
|
disease |
CTD_human |
In this study, we identified by whole-exome sequencing the somatic mutation p.S54L in the PRKACB gene, encoding the catalytic subunit β (Cβ) of PKA, in a CPA from a patient with severe Cushing syndrome.
|
29669941 |
2018 |
|
Adrenal Cortical Adenoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
Activating PRKACB somatic mutation in cortisol-producing adenomas.
|
29669941 |
2018 |
|
Cushing Syndrome
|
0.310 |
Biomarker
|
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 |
|
Intrahepatic Cholangiocarcinoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
Genomic spectra of biliary tract cancer.
|
26258846 |
2015 |
|
Adrenal Cortical Adenoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have identified L206R mutations in the alpha catalytic subunit of protein kinase A (PRKACA) in cortisol-producing adrenocortical adenomas and amplification of the beta catalytic subunit of protein kinase A PRKACB in acromegaly associated with Carney complex.
|
25225481 |
2014 |
|
Prostatic Neoplasms
|
0.310 |
Biomarker
|
group |
CTD_human |
Androgen dependent regulation of protein kinase A subunits in prostate cancer cells.
|
16949795 |
2007 |
|
Prostatic Neoplasms
|
0.310 |
Biomarker
|
group |
LHGDN |
Androgen dependent regulation of protein kinase A subunits in prostate cancer cells.
|
16949795 |
2007 |
|
Conn Adenoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Activating PRKACB somatic mutation in cortisol-producing adenomas.
|
29669941 |
2018 |
|
Biliary Tract Neoplasm
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic spectra of biliary tract cancer.
|
26258846 |
2015 |
|
Biliary Tract Cancer
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic spectra of biliary tract cancer.
|
26258846 |
2015 |
|
Extrahepatic Cholangiocarcinoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic spectra of biliary tract cancer.
|
26258846 |
2015 |
|
Malignant neoplasm of prostate
|
0.300 |
Biomarker
|
disease |
CTD_human |
Androgen dependent regulation of protein kinase A subunits in prostate cancer cells.
|
16949795 |
2007 |
|
Brain Ischemia
|
0.200 |
Biomarker
|
disease |
RGD |
Impairment of cerebral cAMP-mediated signal transduction system and of spatial memory function after microsphere embolism in rats.
|
12150772 |
2002 |
|
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
|
23001122 |
2012 |
|
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
|
23001122 |
2012 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Targeting the MAPK signal transduction pathway through the targeting of the FGF2, FGF9, MECOM, PLA2G4C and PRKACB might increase tumor responsiveness to irinotecan treatment.
|
28749961 |
2017 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
We identified nine tumor subtypes; a new subclass (comprising about 7% of the samples) exhibits high deregulation in 38 PKA pathways, induced by overexpression of the gene PRKACB.
|
25963740 |
2015 |
|
Neural Tube Defects
|
0.020 |
GeneticVariation
|
group |
BEFREE |
The T-allele of rs594631 in PRKACB was correlative with NTDs in male but not in female.
|
24294386 |
2013 |
|
Neural Tube Defects
|
0.020 |
Biomarker
|
group |
BEFREE |
Nonetheless, it is important to examine the possible gene-gene interactions between PRKACA and PRKACB when evaluating the risk for NTDs, as well as genes encoding regulatory subunits of PKA.
|
16080189 |
2005 |
|
Papillary neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
Recurrent Rearrangements in PRKACA and PRKACB in Intraductal Oncocytic Papillary Neoplasms of the Pancreas and Bile Duct.
|
31678302 |
2020 |
|
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We identified fusions in PRKACA and PRKACB genes in pancreatic and biliary IOPNs, as well as in PDACs and pancreatic cyst fluid and bile duct cells from the same patients.
|
31678302 |
2020 |