Affinage

PRKAR1A

cAMP-dependent protein kinase type I-alpha regulatory subunit · UniProt P10644

Length
381 aa
Mass
43.0 kDa
Annotated
2026-06-10
100 papers in source corpus 41 papers cited in narrative 40 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PRKAR1A encodes RIα, the type Iα regulatory subunit of cAMP-dependent protein kinase A (PKA), which restrains PKA activity by sequestering and inhibiting the catalytic subunit and is released upon cAMP binding (PMID:18241045, PMID:24122441). It was first identified as the TSE1 gene product mediating tissue-specific transcriptional extinction of liver genes through suppression of basal PKA, reduced CREB Ser-133 phosphorylation, and lost occupancy at the CRE (PMID:1971524, PMID:1832337, PMID:1889088). PRKAR1A functions as a tumor suppressor: germline inactivating mutations cause Carney complex, operating predominantly through haploinsufficiency enforced by nonsense-mediated decay of premature-stop transcripts and proteasomal degradation of elongated escapee proteins, while expressed missense and splice mutations act by impairing cAMP and/or catalytic-subunit binding to raise PKA activity (PMID:11115848, PMID:18241045, PMID:22205709). Constitutive PKA activation downstream of RIα loss is driven primarily by excess catalytic subunit Cα, since genetic reduction of Cα rescues both developmental lethality and tumorigenesis (PMID:21852354, PMID:20534695). The resulting unrestrained PKA signaling reverses normal PKA-mediated inhibition of the ERK1/2/MAPK cascade, activates Wnt/β-catenin and NF-κB signaling, and dysregulates cell-cycle entry via cyclin D1, E2F1, and CDK4 (PMID:12812976, PMID:20080939, PMID:25268545). In specific lineages it suppresses NF2/Merlin through Rac1–Pak signaling (PMID:23045281), drives proteasome-dependent vimentin loss producing mesenchymal-to-epithelial transition (PMID:18413734, PMID:27995993), impairs Runx2-dependent osteogenic differentiation (PMID:24506536), and must overcome Bim-mediated apoptosis to permit transformation (PMID:25012505). Tissue-specific knockouts establish RIα loss as sufficient to initiate tumors of the adrenal cortex, pituitary, pancreas, thyroid, bone, and peripheral nerve and to cause embryonic cardiac failure (PMID:17975024, PMID:18316483, PMID:20548949, PMID:27803029). Distinct PRKAR1A mutations that impair cAMP binding without accelerated degradation instead cause acrodysostosis with hormone resistance (PMID:22723333, PMID:26405036).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1991 High

    Established the molecular identity of the tissue-specific extinguisher TSE1 as the PKA regulatory subunit RIα and showed it represses liver-specific transcription by lowering basal PKA activity and CREB phosphorylation at the CRE.

    Evidence Somatic cell hybrid genetics, subtractive cDNA cloning, in vivo footprinting, and transfection of wild-type/cAMP-binding mutant RIα in hepatoma cells

    PMID:1832337 PMID:1889088 PMID:1971524

    Open questions at the time
    • Did not address the gene's role in disease or tumorigenesis
    • Mechanism beyond CREB/CRE not explored
  2. 2000 High

    Defined the disease mechanism of Carney complex as PRKAR1A haploinsufficiency, showing premature-stop transcripts are eliminated by NMD and truncated proteins are absent in patient cells.

    Evidence Genomic sequencing of 54 CNC kindreds with NMD assays, immunoblot for protein absence, and linkage analysis

    PMID:11115848

    Open questions at the time
    • Did not establish downstream PKA-driven oncogenic pathways
    • Did not address mutations that escape NMD
  3. 2002 High

    Demonstrated that altered (not absent) RIα can augment nuclear PKA activity, showing dominant mechanisms beyond simple haploinsufficiency.

    Evidence RT-PCR and immunoblot of an exon-6-skipping splice mutant plus in vitro PKA assays and LOH analysis in patient tumors

    PMID:12424709

    Open questions at the time
    • Did not resolve catalytic-subunit binding behavior of the mutant
    • Single mutation context
  4. 2003 High

    Linked PRKAR1A inactivation to paradoxical activation of the ERK1/2 MAPK pathway, identifying the first oncogenic signaling consequence of elevated PKA, and extended PKA dysregulation to sporadic adrenal tumors.

    Evidence PKA enzymatic assays, phospho-ERK immunoblots, proliferation assays with PKA inhibitor validation in patient-derived cells; sequencing and FISH in sporadic adrenocortical tumors

    PMID:12812976 PMID:14500362

    Open questions at the time
    • Mechanism converting cAMP/PKA signal into ERK activation not defined
    • Tissue specificity of the paradoxical ERK response unclear
  5. 2003 Medium

    Identified PAP7 as an RIα-interacting partner co-regulated in steroidogenic tissue, and placed RIα/mTOR complexes at autophagosomal membranes, expanding RIα interactions beyond canonical PKA.

    Evidence Cloning, IHC, and immunoblot in PPNAD/CNC tissue (PAP7); confocal imaging, co-IP, and mTOR phosphorylation assays on Rab7/LC3 membranes

    PMID:12692076 PMID:17204847

    Open questions at the time
    • PAP7 interaction lacked reciprocal IP in this work
    • RIα–mTOR functional consequence for autophagy not established
    • Single-lab observations
  6. 2008 High

    Catalogued the in vitro functional defects of expressed PRKAR1A mutations, showing they raise PKA activity by impairing cAMP and/or catalytic-subunit binding across all RIα domains, and demonstrated loss of Cα binding with reduced nuclear Cα for the exon-6-deleted mutant.

    Evidence In vitro PKA activity, cAMP-binding and catalytic-subunit binding assays with domain-mapping mutagenesis; live-cell imaging of GFP-RIα/Cerulean-Cα

    PMID:18223213 PMID:18241045 PMID:18451138

    Open questions at the time
    • Did not link each mutation to specific tissue phenotypes
    • Structural basis of binding loss inferred from modeling
  7. 2008 High

    Established RIα loss as sufficient to drive lineage-specific phenotypes in vivo — pituitary GH tumors, embryonic cardiac failure with loss of cardiac transcription factors, and mesenchymal-to-epithelial transition via proteasomal vimentin degradation.

    Evidence Tissue-specific Cre-lox Prkar1a knockouts (Pit1 lineage, cardiac, neural crest) with PKA assays, IHC, and proteasome-inhibitor rescue in primary MEFs

    PMID:17975024 PMID:18316483 PMID:18413734

    Open questions at the time
    • E3 ligase mediating vimentin degradation not identified
    • Why phenotypes differ by tissue not mechanistically resolved
  8. 2009 High

    Showed that a PRKAR1A-RARα fusion transforms hematopoietic progenitors in APL, with leukemic transformation depending critically on RXRα interaction rather than the RIα dimerization domain.

    Evidence Murine bone marrow retroviral transformation assay, gel-shift DNA binding, domain mutagenesis, and RXRα shRNA knockdown

    PMID:19965660

    Open questions at the time
    • Relationship of fusion oncogenesis to native RIα tumor-suppressor function unclear
    • Downstream transcriptional targets not mapped
  9. 2010 High

    Defined oncogenic effector pathways downstream of PKA activation — Wnt/β-catenin and CCND1/E2F1/CDK4-driven cell-cycle entry, RANKL overexpression in bone, and craniofacial ossification defects rescued specifically by Cα reduction.

    Evidence Transcriptome profiling with siRNA epistasis and G0/G1 arrest readouts; mouse OSA oncogenomics; adrenal-specific KO with steroidogenic profiling; neural crest KO with Prkaca/Prkacb genetic epistasis

    PMID:20080939 PMID:20534695 PMID:20548949 PMID:20697156

    Open questions at the time
    • How PKA selectively engages Wnt versus other effectors per tissue unresolved
    • RANKL regulation inferred from expression not direct mechanism
  10. 2011 High

    Demonstrated that proteasomal degradation of NMD-escaping elongated mutant proteins acts as a second surveillance layer enforcing haploinsufficiency, and that excess Cα (not Cβ) is the primary driver of Prkar1a-loss phenotypes.

    Evidence Mutagenesis with cell-free translation and proteasome-inhibitor rescue; genetic epistasis of Prkar1a with Prkaca/Prkacb null alleles in cardiac and schwannoma KO models

    PMID:21852354 PMID:22205709

    Open questions at the time
    • Identity of the degradation machinery for elongated RIα not specified
    • Residual Cβ contribution to schwannoma not fully eliminated
  11. 2012 High

    Resolved how RIα loss reshapes spatial cAMP/PKA signaling and identified Rac1–Pak-mediated NF2/Merlin suppression as the schwannoma effector pathway.

    Evidence Compartment-targeted FRET cAMP/PKA reporters with phospho-VASP validation in patient adrenal cells; Prkar1a×Rac1 double-KO genetics with Pak inhibitor experiments

    PMID:23045281 PMID:24122441

    Open questions at the time
    • Mechanism creating opposing plasma-membrane vs cytoplasmic PKA responses unclear
    • Posttranscriptional route from Rac1 to Merlin loss incompletely defined
  12. 2013 High

    Connected RIα loss to impaired terminal differentiation, showing PKA activation represses Runx2 transcriptional activity by reducing FOXO1 and ATF4, and disrupts Schwann cell axon sorting and proliferation control.

    Evidence Prkar1a knockdown osteoblast differentiation assays with ChIP and luciferase reporters; Schwann cell-specific KO with in vivo nerve histology and PKA assays

    PMID:24227708 PMID:24506536

    Open questions at the time
    • How PKA reduces FOXO1/ATF4 levels not defined
    • Link between differentiation block and tumorigenesis not directly tested
  13. 2014 High

    Integrated PKA with mTOR and NF-κB/apoptotic control: Prkar1a loss co-activates PKA and mTOR to drive thyroid cancer, dysregulates cyclin/NF-κB/Bcl-xL programs, and induces Bim-dependent apoptosis that must be overcome for transformation.

    Evidence Prkar1a×Pten thyroid double KO with pathway IHC in mouse/human FTC; comparative PRKAR1A vs PRKAR2B siRNA with cyclin/NF-κB readouts; Prkar1a×Bim double KO with xenografts

    PMID:24512487 PMID:25012505 PMID:25268545

    Open questions at the time
    • Direct PKA substrates linking to mTOR not identified
    • Mechanism of pro-apoptotic Bcl-2 family transcriptional activation unclear
  14. 2015 High

    Distinguished the molecular basis of two PRKAR1A diseases: acrodysostosis mutations impair domain-specific cAMP binding alone, while Carney complex mutations at homologous positions add accelerated protein degradation, explaining their more severe phenotype.

    Evidence CRE-luciferase and BRET dissociation assays with domain-specific cAMP analogs, protein-stability assays, and molecular modeling; phospho-CREB and reporter assays for the p.T239A acrodysostosis mutant

    PMID:22723333 PMID:26405036

    Open questions at the time
    • Why differential degradation occurs for homologous positions not explained
    • Tissue determinants of acrodysostosis vs CNC phenotype unresolved
  15. 2016 High

    Extended the tumor-suppressor role to additional epithelial tissues, demonstrating pancreatic carcinoma with full penetrance after RIα loss and an ERK–Snail–E-cadherin axis controlling proliferation and migration in lung adenocarcinoma.

    Evidence Pdx1-Cre Prkar1a KO with PKA assays and tumor characterization; shRNA knockdown/re-expression with E-cadherin rescue and xenograft assays in A549 cells

    PMID:27803029 PMID:27995993

    Open questions at the time
    • Whether sporadic human pancreatic/lung tumors carry PRKAR1A defects not established here
    • Direct PKA targets in the Snail axis not identified

Open questions

Synthesis pass · forward-looking unresolved questions
  • How a single regulatory subunit loss produces such divergent tissue-specific effectors (Wnt, Rac1–Merlin, Runx2, mTOR, Bim) remains unresolved, as does the spatial logic that channels excess Cα activity to distinct compartments and substrates.
  • No unifying model linking compartmentalized PKA activity to tissue-specific effector selection
  • Direct PKA substrates for most downstream pathways unmapped
  • E3 ligases mediating vimentin and mutant-RIα degradation unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 3 GO:0140096 catalytic activity, acting on a protein 3 GO:0140110 transcription regulator activity 3
Localization
GO:0005634 nucleus 2 GO:0005829 cytosol 2 GO:0005768 endosome 1 GO:0005886 plasma membrane 1
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1640170 Cell Cycle 3 R-HSA-1643685 Disease 3 R-HSA-74160 Gene expression (Transcription) 3 R-HSA-5357801 Programmed Cell Death 2
Partners
MTORPRKACAPRKACBRXRA
Complex memberships
PKA holoenzyme

Evidence

Reading pass · 40 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1990 TSE1/PRKAR1A-mediated transcriptional extinction operates through repression of basal PKA activity, reduced phosphorylation of CREB at Ser-133, and a corresponding reduction of in vivo protein binding at the cAMP response element (CRE) of the tyrosine aminotransferase hepatocyte-specific enhancer. Somatic cell hybrid genetics, in vivo footprinting, cAMP signaling assays Cell High 1832337 1971524
1991 The TSE1 locus on human chromosome 17 encodes the regulatory subunit RIα of cAMP-dependent protein kinase A (PKA); transfection of wild-type or cAMP-binding mutant RIα cDNA into hepatoma cells reproduces TSE1-mediated extinction of liver-specific genes, demonstrating that RIα is the TSE1 product. Subtractive cDNA hybridization cloning, high-resolution chromosomal mapping, stable transfection with wild-type and cAMP-binding mutant RIα constructs, mRNA correlation analysis Cell High 1832337 1889088
2000 PRKAR1A mutations causing Carney complex are all functionally null; mutant mRNAs containing premature stop codons are eliminated by nonsense-mediated mRNA decay, and the predicted truncated PRKAR1A protein products are absent in patient cells, establishing PRKAR1A haploinsufficiency as the molecular mechanism. Genomic sequencing of 54 CNC kindreds, Northern blot/RT-PCR for NMD, immunoblot for protein absence, linkage analysis Human molecular genetics High 11115848
2002 An expressed splice-site PRKAR1A mutation (IVS6+1G→T) causes exon 6 skipping, producing a shorter RIα protein that activates PKA signaling at the nuclear level; this demonstrates that altered (not absent) RIα function is sufficient to augment PKA activity and cause tumorigenesis without complete allelic loss. RT-PCR characterization of mutant mRNA, immunoblot detection of mutant protein in leukocytes and tumors, in vitro PKA signaling assays at nuclear level, LOH analysis American journal of human genetics High 12424709
2003 PRKAR1A-inactivating mutations in CNC/PPNAD cells lead to increased baseline and cAMP-stimulated PKA activity, decreased RIα protein, and loss of the normal PKA-mediated inhibition of the ERK1/2 (MAPK) pathway; in mutant cells, cAMP stimulation with forskolin or isoproterenol paradoxically increases LPA-induced ERK1/2 phosphorylation and cell proliferation instead of inhibiting them. PKA enzymatic activity assays, quantitative mRNA analysis, immunoblot of ERK1/2 phosphorylation, cell proliferation and metabolic assays, PKA inhibitor experiments in patient-derived lymphocytes and pituitary tumor cell line Human molecular genetics High 12812976
2003 Human PAP7 (PBR- and PKA-associated protein 7) physically interacts with PRKAR1A (RIα) and is co-expressed in steroidogenic tissues; PAP7 levels are decreased in CNC/PPNAD nodules in parallel with PRKAR1A, suggesting it participates in PRKAR1A-mediated steroidogenesis regulation. Molecular cloning, expression pattern analysis by IHC, Western blot in PPNAD and CNC lymphoblasts FASEB journal Medium 12692076
2003 Somatic inactivating PRKAR1A mutations in sporadic adrenocortical tumors are associated with RIα down-regulation and higher PKA activity by enzymatic assay, establishing PKA dysregulation as a mechanism in sporadic adrenal tumorigenesis. PRKAR1A sequencing, FISH-based LOH analysis, quantitative mRNA and protein studies, PKA enzymatic activity assay Cancer research Medium 14500362
2004 Loss of Prkar1a function (via antisense transgene) in mice leads to increased total type II PKA activity and higher RIIβ protein levels, recapitulating the biochemical changes observed in Carney complex tumors with PRKAR1A-inactivating mutations. Transgenic mouse model (antisense Prkar1a exon 2), PKA activity assays, Western blot for PKA subunits, LOH analysis of mouse chromosome 11 Journal of medical genetics High 15591278
2006 In PRKAR1A-mutant adrenocortical tissue, increased cAMP-stimulated PKA activity is accompanied by a 2.4-fold decrease in RIα mRNA, increased other PKA subunits, decreased baseline ERK1/2 with increased phospho-ERK1/2, and elevated B-Raf, phospho-MEK1/2, and phospho-c-Myc, but not phospho-Akt, indicating specific activation of the MAPK pathway without PI3K/Akt involvement. Quantitative RT-PCR, immunoblot of PKA subunits and MAPK components, PKA activity assays, immunohistochemistry on adrenocortical samples The Journal of clinical endocrinology and metabolism Medium 16569736
2006 PRKAR1A inactivation in human B lymphocytes leads to increased ERK1/2 and B-Raf phosphorylation, MEK1/2 and c-Myc activation, inhibition of c-Raf-1, increased cell cycle rates, and decreased apoptosis, resulting in net proliferative gain; this occurs even with partial (heterozygous) RIα loss without loss of the second allele. Immunoblot of MAPK pathway components, cell cycle analysis, apoptosis assays in patient-derived lymphocytes with PRKAR1A-inactivating mutations Cancer research Medium 17079485
2007 RIα localizes to Rab7-positive late endosomes and LC3-positive autophagosomal membranes; RIα physically interacts with mTOR kinase and affects its phosphorylation and activity, and mTOR co-localizes with RIα-, Rab7-, and LC3-positive membranes, placing the RIα–mTOR complex at autophagosome maturation. Confocal microscopy (GFP-tagged RIα), co-immunoprecipitation/physical interaction studies, phosphorylation assays of mTOR, subcellular fractionation Autophagy Medium 17204847
2007 Complete pituitary-specific knockout of Prkar1a in the Pit1 lineage is sufficient to cause GH-secreting pituitary tumors and markedly elevated serum GH in mice, demonstrating that total Prkar1a loss in pituitary cells drives pituitary tumorigenesis. Tissue-specific Cre-lox knockout (GHRH receptor promoter-Cre × Prkar1a conditional null), serum GH measurements, tumor characterization by IHC Molecular endocrinology High 17975024
2007 Prkar1a null primary mouse embryonic fibroblasts with constitutive PKA signaling undergo mesenchymal-to-epithelial transition (MET), with loss of vimentin (occurring at the posttranslational level, rescued by proteasomal inhibition) and up-regulation of E-cadherin; this MET was confirmed in neural crest-specific Prkar1a KO schwannomas and in adrenal nodules of CNC patients. Neural crest-specific Prkar1a KO mice, primary MEF cultures, vimentin/E-cadherin immunoblot, proteasome inhibitor rescue experiments, IHC of CNC patient adrenal nodules Cancer research High 18413734
2007 Tissue-specific ablation of Prkar1a in neural crest precursor cells causes schwannomas featuring near-complete loss of both NF1 and NF2 (Merlin) proteins despite increased transcript levels, indicating posttranscriptional regulation; Rac1 is activated in these tumors whereas ERK and Akt signaling are not. Neural crest-specific Prkar1a KO (TEC3KO), immunoblot for NF1/NF2 proteins and transcripts, small GTPase activation assays, histopathology Neoplasia Medium 18953430
2007 Prkar1a (+/-) mouse bone tumor cells show decreased Prkar1a protein and increased PKA activity; Wnt signaling pathway members are up-regulated and markers of bone differentiation are down-regulated, and tumor cells exhibit enhanced growth in response to PKA-stimulating agents. Prkar1a(+/-) mouse model, primary bone tumor cell cultures, IHC, PKA activity assays, gene expression analysis, xenograft in immunocompromised mice Molecular endocrinology Medium 17932105
2008 An expressed PRKAR1A mutation (IVS6+1G>T, producing RIαΔ6 lacking exon 6 sequences) leads to diffuse cytoplasmic RIα without discrete aggregates, absence of binding to the PKA catalytic subunit (Cα) at baseline and after cAMP stimulation, decreased nuclear Cα, and increased PKA activity without an increase in type II PKA subunits. Confocal microscopy with GFP-tagged RIα and Cerulean-tagged Cα, PKA activity assays, immunoblot of PKA subunits, transfection of mutant vs. wild-type constructs in cells Cancer research High 18451138
2008 Seven expressed PRKAR1A mutations not subject to NMD (p.Ser9Asn, p.Glu60_Lys116del, p.Arg74Cys, p.Arg146Ser, p.Asp183Tyr, p.Ala213Asp, p.Gly289Trp), spread across all functional RIα domains, all exhibit increased PKA activity attributable to decreased binding to cAMP and/or the catalytic subunit. In vitro functional assays of PKA activity, cAMP binding assays, mutagenesis with domain mapping, transfection studies Human mutation High 18241045
2008 A large PRKAR1A deletion removing exon 3 produces an expressed shorter protein lacking the primary site for interaction with the PKA catalytic subunit; in vitro transfection studies showed impaired cAMP binding and activation of PKA, and this mutation was associated with a more severe CNC phenotype than haploinsufficiency mutations. Southern hybridization for large deletion detection, in vitro transfection of mutant PRKAR1A, PKA activity and cAMP binding assays Clinical cancer research Medium 18223213
2008 Cardiac-specific knockout of Prkar1a causes embryonic death at E11.5–12.5 with thin-walled dilated hearts, elevated PKA activity, decreased cardiomyocyte proliferation, down-regulation of cardiac transcription factors (SRF, Gata4, Nkx2-5), and myxomatous degeneration in specific areas of the heart wall. Cre-lox cardiac-specific KO, PKA activity assays, IHC for transcription factors, histopathology for myxomatous changes Circulation High 18316483
2009 PRKAR1A-RARα fusion protein in APL transforms bone marrow progenitor/stem cells; it binds retinoic acid response elements as a homodimer and as a heterodimer with RXRα; the RIIa domain mediates homodimerization and interaction with wild-type RIα but is not required for transformation; leukemic transformation critically depends on RXRα interaction. Murine bone marrow retroviral transduction/transformation assay, gel-shift assays, point mutations in RARα portion, RXRα shRNA knockdown, RXRα agonist treatment Blood High 19965660
2010 Adrenal cortex-specific Prkar1a knockout mice develop Cushing's syndrome with increased PKA activity, autonomous steroidogenic gene expression, increased proliferation, resistance to apoptosis, and improper maintenance of fetal adrenocortical cells with centrifugal expansion, demonstrating that RIα loss alone is sufficient to initiate PPNAD. Adrenal cortex-specific Cre-lox Prkar1a KO, PKA activity assays, steroidogenic gene expression profiling, histopathology, cell proliferation and apoptosis assays PLoS genetics High 20548949
2010 Prkar1a haploinsufficiency activates the Wnt signaling pathway and causes cell cycle dysregulation (via CCND1, E2F1, CDK4); siRNA knockdown of Ctnnb1, E2f1, or Cdk4 inhibits proliferation of PRKAR1A-mutant human adrenal cells and arrests them at G0/G1, placing Wnt/cell cycle activation downstream of PRKAR1A loss. Whole-genome transcriptome profiling, qRT-PCR array, IHC, siRNA epistasis experiments with G0/G1 cell cycle arrest readout in human adrenal cells and Prkar1a(+/-) MEFs Human molecular genetics High 20080939
2010 Prkar1a is a bone tumor suppressor gene; its deletions in mouse OSA define a molecularly distinct subclass featuring RANKL overexpression, and mouse genetics established that Prkar1a loss is sufficient to direct this subclass and drive RANKL overexpression during OSA tumorigenesis. Mouse OSA model with integrative oncogenomics (SNP array CGH), mouse genetic epistasis, gene expression analysis for RANKL The Journal of clinical investigation Medium 20697156
2010 Simultaneous siRNA inactivation of both PRKAR1A and PDE11A leads to an increase in cAMP-regulatory element-mediated transcriptional activity under basal conditions and after forskolin stimulation, establishing functional interaction between these two cAMP pathway regulators. siRNA dual knockdown of PRKAR1A and PDE11A, CRE-luciferase reporter assay The Journal of clinical endocrinology and metabolism Medium 21047926
2011 PRKAR1A mutations that cause frameshift in the last coding exon (predicted to escape NMD) produce elongated proteins that are absent in patient cells due to proteasomal degradation; proteasome inhibitors rescue detection of the aberrant proteins in transfected cells, adding protein surveillance to NMD as a cellular mechanism ensuring RIα haploinsufficiency. Site-directed mutagenesis, in vitro transcription/translation, transfection in adrenal/testicular/embryonic cells, Western blot with and without proteasome inhibitors, patient cell analysis The Journal of clinical endocrinology and metabolism High 22205709
2011 Genetic reduction of the PKA catalytic subunit Prkaca (Cα) rescues the embryonic lethality of cardiac Prkar1a KO and suppresses schwannoma formation in neural crest Prkar1a KO mice; reduction of Prkacb has minimal cardiac rescue and only ~80% schwannoma suppression, demonstrating that developmental and tumor phenotypes caused by Prkar1a mutation are primarily driven by excess PKA-Cα activity. Genetic epistasis using double KO of Prkar1a with Prkaca or Prkacb null alleles, PKA activity biochemical assays, tumor incidence analysis Molecular endocrinology High 21852354
2011 The S147G PRKAR1A missense mutation leads to decreased cAMP binding and decreased catalytic subunit binding by RIα, resulting in increased PKA activity in vitro, without loss of heterozygosity in the associated adrenocortical cancer. In vitro PKA activity assays, cAMP binding assays, catalytic subunit binding assays, LOH analysis in tumor tissue The Journal of clinical endocrinology and metabolism Medium 22112814
2012 Activated Rac1 downstream of PKA (activated by Prkar1a loss) suppresses NF2/Merlin protein production in Schwann cells through a Pak-dependent mechanism; genetic double KO of Prkar1a and Rac1 reduces tumor formation with re-expression of Nf2, and activated Rac1 can downregulate Nf2 in vitro, revealing bidirectional NF2–Rac1 signaling modulated by PKA. Double KO mouse genetics (Prkar1a × Rac1 in Schwann cells), tumor incidence analysis, proliferation/apoptosis assays, in vitro Rac1 activation of Nf2 downregulation, Pak inhibitor experiments Oncogene High 23045281
2012 PRKAR1A inactivation leads to compartment-specific alterations in cAMP/PKA signaling: RIα knockdown increases PKA activity in the cytoplasm and at the outer mitochondrial membrane, but decreases PKA response and increases basal PKA activity at the plasma membrane; cAMP is increased in all compartments tested. FRET-based cAMP and PKA activity reporters (AKAR3 and Epac1-camps) targeted to cytoplasm, outer mitochondrial membrane, and plasma membrane; Western blot of phospho-VASP; siRNA knockdown; human adrenal cells with RIα mutation Human molecular genetics High 24122441
2012 A novel PRKAR1A mutation p.T239A at cAMP-binding domain A causes acrodysostosis with hormone resistance by impairing the protein kinase A response to cAMP; CRE-binding protein phosphorylation is markedly reduced in patient lymphoblastoid cells stimulated with forskolin, and CRE-luciferase reporter assays demonstrate significantly impaired PKA response to cAMP from the mutant protein. Western blot of phospho-CREB in patient lymphoblastoid cells, CRE-luciferase reporter assay in HEK293 cells transfected with mutant p.T239A protein The Journal of clinical endocrinology and metabolism Medium 22723333
2013 Prkar1a knockdown in mouse and human osteoblastic cells suppresses osteogenic differentiation, bone nodule formation, and expression of osteocalcin/osteopontin; mechanistically, Prkar1a ablation represses DNA binding and transcriptional activity of Runx2 by reducing levels of cooperating transcription factors FOXO1 and ATF4. Stable Prkar1a knockdown, osteogenic differentiation assays, chromatin immunoprecipitation (ChIP), luciferase reporter assays, qRT-PCR of osteoblast markers Molecular endocrinology High 24506536
2013 Prkar1a loss in Schwann cells causes a persistent axonal sorting defect, decreased Schwann cell proliferation in vivo (cell-autonomous, recapitulated in vitro), premature myelination with increased Oct-6 and myelin basic protein, revealing essential roles of PKA (elevated by Prkar1a KO) in axon sorting and SC proliferation control. Schwann cell-specific Prkar1a conditional KO, in vivo nerve histology, in vitro SC cultures with PKA activity measurement, IHC for Oct-6 and MBP The Journal of neuroscience High 24227708
2014 Prkar1a loss in mouse thyrocytes causes PKA and mTOR dual activation; combined thyroid-specific Prkar1a and Pten double KO develops follicular thyroid cancer recapitulating human FTC with strong activation of both PKA (pCREB) and mTOR pathways, confirmed in human FTC samples. Tissue-specific double KO (Prkar1a × Pten in thyroid), IHC for pCREB, pAKT, pERK, pmTOR in mouse and human FTC, gene expression profiling The Journal of clinical endocrinology and metabolism High 24512487
2014 Loss of Prkar1a transcriptionally activates several pro-apoptotic Bcl-2 family members causing cell death; combined loss of Bim and Prkar1a increases colony formation and tumor growth in immunodeficient mice, establishing that Prkar1a-mediated apoptosis through Bim must be overcome for tumorigenesis. Genetically modified mice with Prkar1a loss, Prkar1a × Bim double KO, colony formation assay, xenograft in immunodeficient mice, gene expression analysis of Bcl-2 family Cell death and differentiation High 25012505
2014 PRKAR1A depletion in adrenocortical H295R cells leads to accumulation of cyclin D1 and p27kip (distinct from PRKAR2B depletion which accumulates cyclins A, B, cdk1, cdc2, and p21Cip); both depletions activate PKA and MEK/ERK pathways, impair IκB leading to NF-κB activation, and promote Bcl-xL expression and apoptosis resistance, but with different cyclin profiles. siRNA knockdown of PRKAR1A vs. PRKAR2B, cell cycle analysis, apoptosis assays, Western blot of cyclins/CDKs and signaling molecules Hormone and metabolic research Medium 25268545
2015 All acrodysostosis-causing PRKAR1A mutations impair cAMP binding to the domain containing the mutation (verified by domain-specific cAMP analogs and BRET dissociation assay), constituting a single shared molecular mechanism; Carney complex mutations at homologous positions share cAMP resistance but additionally cause accelerated PRKAR1A protein degradation, explaining their distinct and more severe phenotype. CRE-luciferase reporter assay (forskolin-induced PKA activation), BRET assay (cAMP-induced PRKAR1A–catalytic subunit dissociation), domain-specific cAMP analogs (domain A: 8-piperidino-cAMP; domain B: 8-AHA-cAMP), protein stability/degradation assays, molecular modeling The Journal of biological chemistry High 26405036
2016 Pancreas-specific Prkar1a knockout (pdx1-Cre) leads to endocrine or mixed endocrine/acinar cell carcinomas with 100% penetrance by 4–5 months, with high PKA activity, supporting Prkar1a as a tumor suppressor gene in the pancreas acting through the PKA pathway. Pdx1-Cre-driven Prkar1a KO, PKA activity assays, histopathology, electron microscopy, IHC for neuroendocrine markers Endocrine-related cancer High 27803029
2016 PRKAR1A knockdown in lung adenocarcinoma A549 cells activates ERK/Snail signaling, which inhibits E-cadherin expression; re-expression of PRKAR1A suppresses cell proliferation and migration; elevated E-cadherin rescues the proliferation and migration phenotype induced by PRKAR1A knockdown, placing PRKAR1A upstream of an ERK–Snail–E-cadherin axis. Stable shRNA knockdown and re-expression of PRKAR1A in lung adenocarcinoma cells, proliferation and migration assays in vitro and in vivo (xenograft, circulating tumor cell colonization), E-cadherin overexpression rescue experiment, Western blot of ERK/Snail/E-cadherin Scientific reports Medium 27995993
2007 In a cell line bearing an inactivating PRKAR1A mutation (IVS2+1 G→A), introduction of PKA subunits alters cell cycle: wild-type PRKAR1A transfection decreases aneuploidy and G2/M; PRKAR2B, mutant RIαP, or catalytic subunit transfection increases S phase and aneuploidy. E2F1 was identified as a mediator of PKA effects on cell cycle by siRNA epistasis. Stable transfection of PKA subunits into PRKAR1A-mutant immortalized cell line, cell cycle analysis, siRNA knockdown of E2F1, cyclin/E2F expression analysis, cAMP level measurement The Journal of clinical endocrinology and metabolism Medium 18056771
2010 Neural crest-specific Prkar1a inactivation causes perinatal lethality from dysmorphic craniofacial development with anomalous intramembranous ossification; genetic reduction of PKA catalytic subunit Cα rescues the phenotype whereas Cβ reduction has no effect, demonstrating that excess Cα-mediated PKA activity is responsible for craniofacial bone defects. Neural crest-specific Prkar1a Cre-lox KO, genetic epistasis with Prkaca and Prkacb null alleles, histopathology of craniofacial bones Molecular endocrinology High 20534695

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2000 Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Human molecular genetics 318 11115848
2009 Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. The Journal of clinical endocrinology and metabolism 303 19293268
2003 Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity. Cancer research 204 14500362
1991 The tissue-specific extinguisher locus TSE1 encodes a regulatory subunit of cAMP-dependent protein kinase. Cell 185 1832337
2004 Minireview: PRKAR1A: normal and abnormal functions. Endocrinology 166 15331577
2010 The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clinical genetics 151 20507346
2002 Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD. American journal of human genetics 148 12424709
2010 Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Human mutation 147 20358582
1990 A cyclic AMP response element mediates repression of tyrosine aminotransferase gene transcription by the tissue-specific extinguisher locus Tse-1. Cell 147 1971524
2019 Glioma exosomes mediate the expansion and function of myeloid-derived suppressor cells through microRNA-29a/Hbp1 and microRNA-92a/Prkar1a pathways. International journal of cancer 140 30536597
2002 Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. The Journal of clinical endocrinology and metabolism 139 12213893
1991 Subtractive hybridization cloning of a tissue-specific extinguisher: TSE1 encodes a regulatory subunit of protein kinase A. Cell 138 1889088
2011 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. The New England journal of medicine 121 21651393
2004 Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice. Proceedings of the National Academy of Sciences of the United States of America 121 15371594
2007 The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia. Blood 94 17712046
2004 A transgenic mouse bearing an antisense construct of regulatory subunit type 1A of protein kinase A develops endocrine and other tumours: comparison with Carney complex and other PRKAR1A induced lesions. Journal of medical genetics 93 15591278
2010 Cushing's syndrome and fetal features resurgence in adrenal cortex-specific Prkar1a knockout mice. PLoS genetics 91 20548949
2006 A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. The Journal of clinical endocrinology and metabolism 88 16464939
2010 Prkar1a is an osteosarcoma tumor suppressor that defines a molecular subclass in mice. The Journal of clinical investigation 87 20697156
2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. The Journal of clinical endocrinology and metabolism 83 23043190
2010 Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. The Journal of clinical endocrinology and metabolism 81 21047926
2017 Genomic Analysis of Pigmented Epithelioid Melanocytomas Reveals Recurrent Alterations in PRKAR1A, and PRKCA Genes. The American journal of surgical pathology 79 28796000
2002 Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. Genes, chromosomes & cancer 77 12203783
2008 Large deletions of the PRKAR1A gene in Carney complex. Clinical cancer research : an official journal of the American Association for Cancer Research 76 18223213
2003 Protein kinase-A activity in PRKAR1A-mutant cells, and regulation of mitogen-activated protein kinases ERK1/2. Human molecular genetics 76 12812976
2014 PRKAR1A in the development of cardiac myxoma: a study of 110 cases including isolated and syndromic tumors. The American journal of surgical pathology 75 24618615
2003 Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease! FEBS letters 67 12829237
2002 Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex). Annals of the New York Academy of Sciences 66 12119264
2002 Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours. Clinical endocrinology 64 12354125
2008 In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Human mutation 58 18241045
2006 PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. The Journal of clinical endocrinology and metabolism 58 16569736
2008 Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer research 56 18451138
2007 Pituitary-specific knockout of the Carney complex gene Prkar1a leads to pituitary tumorigenesis. Molecular endocrinology (Baltimore, Md.) 55 17975024
2018 Fibrolamellar carcinoma in the Carney complex: PRKAR1A loss instead of the classic DNAJB1-PRKACA fusion. Hepatology (Baltimore, Md.) 53 29222914
2008 Heart-specific ablation of Prkar1a causes failure of heart development and myxomagenesis. Circulation 53 18316483
2010 Mouse Prkar1a haploinsufficiency leads to an increase in tumors in the Trp53+/- or Rb1+/- backgrounds and chemically induced skin papillomas by dysregulation of the cell cycle and Wnt signaling. Human molecular genetics 52 20080939
2010 PRKAR1A is overexpressed and represents a possible therapeutic target in human cholangiocarcinoma. International journal of cancer 52 20824711
2011 A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. The Journal of clinical endocrinology and metabolism 51 22112814
1988 Coordinate regulation of two genes encoding gluconeogenic enzymes by the trans-dominant locus Tse-1. Proceedings of the National Academy of Sciences of the United States of America 50 2902627
2012 Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. The Journal of clinical endocrinology and metabolism 49 22259056
2008 Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain. European journal of endocrinology 46 18694911
2015 Consistent copy number changes and recurrent PRKAR1A mutations distinguish Melanotic Schwannomas from Melanomas: SNP-array and next generation sequencing analysis. Genes, chromosomes & cancer 45 26031761
2013 Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. The Journal of clinical endocrinology and metabolism 45 24170103
1989 Hormonal regulation of TSE1-repressed genes: evidence for multiple genetic controls in extinction. Molecular and cellular biology 45 2571076
2021 MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene. European journal of endocrinology 42 33444222
2012 Structural insights into the effector-immunity system Tse1/Tsi1 from Pseudomonas aeruginosa. PloS one 42 22792331
2012 Structural insights into the Pseudomonas aeruginosa type VI virulence effector Tse1 bacteriolysis and self-protection mechanisms. The Journal of biological chemistry 41 22700987
2016 Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 39 26763073
2003 GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24. Clinical endocrinology 38 12641630
2012 Thyroid-specific ablation of the Carney complex gene, PRKAR1A, results in hyperthyroidism and follicular thyroid cancer. Endocrine-related cancer 37 22514108
2006 PRKAR1A mutations in primary pigmented nodular adrenocortical disease. Pituitary 36 17036196
2020 Genomic and Clinicopathologic Characteristics of PRKAR1A-inactivated Melanomas: Toward Genetic Distinctions of Animal-type Melanoma/Pigment Synthesizing Melanoma. The American journal of surgical pathology 33 32118628
2009 Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene. Human pathology 33 20004940
2007 An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits. The Journal of clinical endocrinology and metabolism 33 18056771
2012 PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. The Journal of clinical endocrinology and metabolism 32 22723333
2006 PRKAR1A inactivation leads to increased proliferation and decreased apoptosis in human B lymphocytes. Cancer research 32 17079485
2015 Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. The Journal of biological chemistry 31 26405036
2008 Targeted deletion of Prkar1a reveals a role for protein kinase A in mesenchymal-to-epithelial transition. Cancer research 31 18413734
2007 mTOR kinase and the regulatory subunit of protein kinase A (PRKAR1A) spatially and functionally interact during autophagosome maturation. Autophagy 30 17204847
2007 Mutation of Prkar1a causes osteoblast neoplasia driven by dysregulation of protein kinase A. Molecular endocrinology (Baltimore, Md.) 30 17932105
2017 PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. European journal of endocrinology 29 28522647
2014 Follicular thyroid cancers demonstrate dual activation of PKA and mTOR as modeled by thyroid-specific deletion of Prkar1a and Pten in mice. The Journal of clinical endocrinology and metabolism 29 24512487
2005 PRKAR1A gene mutation in patients with cardiac myxoma. International journal of cardiology 29 15982496
2003 Molecular cloning, chromosomal localization of human peripheral-type benzodiazepine receptor and PKA regulatory subunit type 1A (PRKAR1A)-associated protein PAP7, and studies in PRKAR1A mutant cells and tissues. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 29 12692076
2008 Tissue-specific ablation of Prkar1a causes schwannomas by suppressing neurofibromatosis protein production. Neoplasia (New York, N.Y.) 28 18953430
2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis. Clinical genetics 27 23425300
2005 Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas. Genes, chromosomes & cancer 27 16001434
2012 Crystal structure of type VI effector Tse1 from Pseudomonas aeruginosa. FEBS letters 25 22750141
2010 PRKAR1A and the evolution of pituitary tumors. Molecular and cellular endocrinology 25 20451576
2016 PRKAR1A is a functional tumor suppressor inhibiting ERK/Snail/E-cadherin pathway in lung adenocarcinoma. Scientific reports 24 27995993
1985 The role of polypeptides L and NS in the transcription process of vesicular stomatitis virus New Jersey using the temperature-sensitive mutant tsE1. The Journal of general virology 24 2987393
2022 PRKAR1A and SDCBP Serve as Potential Predictors of Heart Failure Following Acute Myocardial Infarction. Frontiers in immunology 23 35592331
2018 Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. European journal of human genetics : EJHG 23 30006632
2011 Differential role of PKA catalytic subunits in mediating phenotypes caused by knockout of the Carney complex gene Prkar1a. Molecular endocrinology (Baltimore, Md.) 23 21852354
2009 Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. The Journal of clinical endocrinology and metabolism 23 19915019
2016 Prkar1a gene knockout in the pancreas leads to neuroendocrine tumorigenesis. Endocrine-related cancer 22 27803029
2012 Structural insight into how Pseudomonas aeruginosa peptidoglycanhydrolase Tse1 and its immunity protein Tsi1 function. The Biochemical journal 21 22931054
2009 Leukemic transformation by the APL fusion protein PRKAR1A-RAR{alpha} critically depends on recruitment of RXR{alpha}. Blood 21 19965660
2008 A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations. Clinical endocrinology 21 18445140
2004 Eyelid myxoma in Carney complex without PRKAR1A allelic loss. American journal of medical genetics. Part A 21 15368482
2000 PECAM1, MPO and PRKAR1A at chromosome 17q21-q24 and susceptibility for multiple sclerosis in Sweden and Sardinia. Journal of neuroimmunology 21 10900349
2010 Neural crest-specific loss of Prkar1a causes perinatal lethality resulting from defects in intramembranous ossification. Molecular endocrinology (Baltimore, Md.) 20 20534695
2022 Sporadic superficial angiomyxomas demonstrate loss of PRKAR1A expression. Histopathology 19 34532875
2022 Large cell calcifying Sertoli cell tumour: a contemporary multi-institutional case series highlighting the diagnostic utility of PRKAR1A immunohistochemistry. Histopathology 19 34780072
2019 Somatic PRKAR1A Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor. Journal of the Endocrine Society 19 31286102
2012 Rac1 is required for Prkar1a-mediated Nf2 suppression in Schwann cell tumors. Oncogene 19 23045281
2011 In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex. The Journal of clinical endocrinology and metabolism 19 22205709
2014 Comparison of the effects of PRKAR1A and PRKAR2B depletion on signaling pathways, cell growth, and cell cycle control of adrenocortical cells. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 18 25268545
2009 The Carney complex gene PRKAR1A plays an essential role in cardiac development and myxomagenesis. Trends in cardiovascular medicine 18 19577711
2022 Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics. The American journal of surgical pathology 17 35319526
2021 Role of CNC1 gene in TDP-43 aggregation-induced oxidative stress-mediated cell death in S. cerevisiae model of ALS. Biochimica et biophysica acta. Molecular cell research 17 33647321
2021 PRKAR1A and Thyroid Tumors. Cancers 17 34359735
2013 Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters. Human molecular genetics 16 24122441
2013 The protein kinase A regulatory subunit R1A (Prkar1a) plays critical roles in peripheral nerve development. The Journal of neuroscience : the official journal of the Society for Neuroscience 16 24227708
2017 Carney complex with PRKAR1A gene mutation: A case report and literature review. Medicine 15 29390296
2014 Knockdown of PRKAR1A, the gene responsible for Carney complex, interferes with differentiation in osteoblastic cells. Molecular endocrinology (Baltimore, Md.) 15 24506536
2014 Loss of Prkar1a leads to Bcl-2 family protein induction and cachexia in mice. Cell death and differentiation 14 25012505
2014 Germline deletion and a somatic mutation of the PRKAR1A gene in a Carney complex-related pituitary adenoma. European journal of endocrinology 13 25336503
2013 Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications. The Journal of clinical endocrinology and metabolism 13 24248186
2009 Analysis of GNAS1 and PRKAR1A gene mutations in human cardiac myxomas not associated with multiple endocrine disorders. Journal of endocrinological investigation 13 19494712

Missed literature

Know a paper Affinage missed for PRKAR1A? Flag it for the maintainers and the community.

No submissions yet.