Gene References into Functions | - In Pseudohypoparathyroidism, mutations were found in PRKAR1A, PDE4D, TRPS1, and PTHLH. PMID: 29499646
- A report of the occurrence of an aberrant serotonergic regulatory loop in primary pigmented nodular adrenocortical disease tissues from patients with PRKAR1A mutations. PMID: 27699247
- Splice site mutation of the PRKAR1A gene is associated with Carney complex. PMID: 29318463
- PRKAR1A is a potent tumor suppressor that inhibits the ERK/Snail/E-cadherin pathway in lung adenocarcinoma PMID: 27995993
- t-Darpp phosphorylation at T39 seems to be crucial for t-Darpp-mediated PKA activation and this activation appears to occur through an association with RI and sequestering of RI away from PKAc. The t-Darpp-RI interaction could be a druggable target to reduce PKA activity in drug-resistant cancer. PMID: 28867659
- the T allele of SNP rs60684937 located at 67,419,130 bp on chromosome 17 was associated with increased plasma EPO and a relatively increased expression of a non-coding transcript of PRKAR1A in sickle cell disease patients PMID: 28173069
- In this study we demonstrate a new role of MRAP2 in the regulation of the orexin receptor 1 (OX1R) and identify the specific regions of MRAP2 required for the regulation of OX1R and PKR1. Importantly, like MC4R and PKRs, OX1R is predominately expressed in the brain where it regulates food intake PMID: 28939058
- Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism PMID: 26763073
- we used next-generation sequencing to assess 480 cancer-related genes and performed immunohistochemistry on 13 cases morphologically consistent with pigmented epithelioid melanocytoma. These results further validate the concept of pigmented epithelioid melanocytoma as a distinctive intermediate/borderline melanocytic tumor, and also illustrate its molecular heterogeneity PMID: 28796000
- Found evidence for kidney and liver cystic phenotypes in the Carney complex, a tumoral syndrome caused by mutations in PRKAR1A. PMID: 28615245
- Data suggest that introduction of cGMP-specific residues using site-directed mutagenesis reduces selectivity of cyclic nucleotide-binding domain (CNBD) of PRKAR1A; combination of two mutations (G316R/A336T) results in a cGMP-selective binding site in the C-terminal CNBD; introduction of corresponding mutations (T192R/A212T) into the N-terminal CNBD results in a highly cGMP-selective binding site. PMID: 28583991
- Data show that ELOVL7, SOCS3, ACSL4 and CLU were upregulated while PRKAR1A and ABCG1 were downregulated in the phlegm-dampness group. PMID: 27928700
- Electrostatic interactions are mediators in the allosteric activation of protein kinase A RIalpha. PMID: 28221775
- The obtained data on the mechanism of cAMP-dependent activation of PKA I alpha may contribute to new approaches to designing pharmaceuticals based on cAMP analogs. PMID: 28367443
- the present study reported for the first time an intronic splice site mutation in the PRKAR1A gene of a Chinese family with Carney complex, which probably caused skin pigmentation observed in affected family members. PMID: 26788925
- This study reports a novel point mutation of the PRKAR1A gene in a patient with Carney complex who presented with significant osteoporosis and fractures. PMID: 27377598
- Letter/Case Report: novel PRKAR1A mutation resulting in a splicing variant in a case of Carney complex. PMID: 26354069
- P-Rex1 contributes to the spatiotemporal localization of type I PKA, which tightly regulates this guanine exchange factor by a multistep mechanism. PMID: 26797121
- In the absence of a PRKAR1A gene mutation, our Cushing"s syndrome patients do not fit the criteria for Carney"s complex PMID: 26619967
- Case Report: although there was no family history of any of the Carney complex features and no mutations in the PRKAR1A gene were found, findings lead to the diagnosis of sporadic Carney complex. PMID: 25576349
- this study evaluated the functional characteristics of PRKAR1A regulatory subunits carrying eight different mutations identified in patients with acrodysostosis and compared the results with those obtained for the two alternative mutations involved in the Carney complex PMID: 26405036
- PRKAR1A gene and its locus are altered in mixed odontogenic tumors. Expression is decreased in a subset of tumors, and Prkar1a(+) (/) (-) mice do not show abnormalities, which indicates that additional genes play a role in this tumor"s pathogenesis. PMID: 25870248
- The truncated enzyme lacks the functional cyclic adenosine monophosphate (cAMP) binding domain at the C-terminus, causing PRKAR1A haploinsufficiency. PMID: 26416542
- PRKAR1A gene mutation of c.491_492delTG is associated with multiple and extensive cardiac myxomas and skin pigmentation. PMID: 25890363
- our data shows that an increased PRKAR1A expression is associated with aggressive and undifferentiated thyroid tumors PMID: 25393625
- Protein Kinase A Opposes the Phosphorylation-dependent Recruitment of Glycogen Synthase Kinase 3beta to A-kinase Anchoring Protein 220. PMID: 26088133
- Although the depletion of PRKAR1A and PRKAR2B in adrenocortical cells has similar effects on cell proliferation and apoptosis; loss of these PKA subunits differentially affects cyclin expression. PMID: 25268545
- Results show that mouse Prkar1a and human PRKAR2A exhibited a dynamic spatio-temporal expression in tooth development, whereas neither human PRKAR1A nor mouse Prkar2a showed their expression in odontogenesis. PMID: 24755349
- A Carney complex-related pituitary adenoma with a somatic mutation and a large inherited deletion of the PRKAR1A gene was identified. PMID: 25336503
- we conclude that PRKAR1A mutations may play no major role in the pathogenesis of BDE. PMID: 23425300
- These results show that RIalpha inactivation leads to multiple, compartment-specific alterations of the cAMP/PKA pathway revealing new aspects of signaling dysregulation in tumorigenesis. PMID: 24122441
- PRKAR1A appears to play a role in the development of both syndromic and nonsyndromic cardiac myxomas PMID: 24618615
- Mutagenesis of residues on Protein Kinase A RIalpha interface not only leads to structural and biochemical changes, but is also linked to Carney complex disease. PMID: 24316401
- Increased PKA signaling in perirenal adipose tissue was associated with lower BMI in Cushing syndrome. Differences in fat distribution may contribute to phenotypic differences between patients with Cushing syndrome with and without PRKAR1A mutations. PMID: 24248186
- A significant number (21.6%) of patients with Carney complex that are negative in currently available testing may have PRKAR1A haploinsufficiency due to genomic defects that are not detected by Sanger sequencing. PMID: 24170103
- Data suggest that gene rearrangement in PRKAR1A can result in Carney complex; a large in-frame deletion of exons 3-6 has been identified in three members of a Portuguese family; the truncated PRKAR1A produced in these subjects is unstable. PMID: 24144965
- Data suggest that protein kinase A enzymatic activity in parathyroid adenoma is less than in normal glands; however, 5 out of 8 parathyroid adenoma tissues expressed higher content of PKA-RIalpha protein as compared with normal parathyroid tissues. PMID: 23197043
- Evidence for a new mechanism by which hypercapnia via soluble adenylyl cyclase, cAMP, PKA Type Ialpha, and alpha-adducin regulates Na,K-ATPase endocytosis in alveolar epithelial cells. PMID: 23349050
- REVIEW: Prkar1a in the regulation of insulin secretion PMID: 22951902
- RIaalpha and RIIaalpha were identified as cCMP-binding proteins. PMID: 22808067
- Phenotypic differences, including the presence of resistance to GPCR-cAMP signaling hormones in PRKAR1A but not PDE4D patients, indicate phenotype-genotype correlations and highlight the specific contributions of PRKAR1A and PDE4D in cAMP signaling. PMID: 23043190
- Epithelioid and fusiform blue nevus of chronically sun-damaged skin is a unique subtype of blue nevus without loss of PRKAR1A expression. PMID: 22892599
- PRKAR1A overexpression is associated with increased ECPKA autoantibody in liver fluke-associated cholangiocarcinoma. PMID: 22922884
- PRKAR1A mutational analysis and PKA enzymatic activity in endometrial tumors. PMID: 22461635
- PRKAR1A mutation is associated with Carney complex. PMID: 22297707
- We treated a 40-year-old man who presented with an embolic stroke. He had a family history of cardiac myxoma and underwent resection of a right atrial myxoma 7 years ago. Genetic evaluation revealed a heterozygous mutation in the PRKAR1A gene. PMID: 22632512
- Protein kinase A 1 selectively regulates Kv1.3 channels in human T lymphocytes. PMID: 22378744
- This was the first demonstration of proteasomal degradation of RIalpha protein variants leading to PRKAR1A haploinsufficiency and Carney complex, adding protein surveillance to nonsense mRNA decay in the cellular mechanisms overseeing RIalpha synthesis. PMID: 22205709
- Data suggest that not all cAMP activation is the same; adrenal lesions harboring PRKAR1A or GNAS mutations share downstream activation of certain oncogenic signals (such as MAPK and cell cycle genes) but differ substantially in effects on others. PMID: 22259056
- A novel PRKAR1A mutation in Korean Carney complex family. PMID: 22020668
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