ArticleScience (New York, N.Y.)2014
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
Article in Science (New York, N.Y.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed, 204 citations in OpenAlex.
- The βBritish journal of pharmacology · 2026Article
- Recent progress in pathophysiology of cortisol-producing adrenal tumor.Endocrine journal · 2026Review
- Review
- Human adrenocortical organoids for tissue regeneration and disease modeling.Stem cell reports · 2025Article
- Identifying factors associated with subsequent diagnosis of adrenal adenoma: a population-based historical case-control study.European journal of endocrinology · 2025Article
- Hedgehog pathway, cell cycle, and primary cilium.Cell death discovery · 2025Review
- ccfDNA analysis for the classification of adrenocortical adenomas.Journal of endocrinological investigation · 2025Article
- A lipid metabolism related gene signature predicts postoperative recurrence in pancreatic cancer through multicenter cohort validation.Scientific reports · 2025Article
- Molecular characterization of archival adrenal tumor tissue from patients with ACTH-independent Cushing syndrome.The Journal of steroid biochemistry and molecular biology · 2025Review
- Characterisation of aEndocrine oncology (Bristol, England) · 2025Article
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.International journal of molecular sciences · 2024Review
- Microcystin-LR activates serine/threonine kinases and alters the phosphoproteome in human HepaRG cells.Toxicon : official journal of the International Society on Toxinology · 2024Article
- PRKACB is a novel imprinted gene in marsupials.Epigenetics & chromatin · 2024Article
- Therapeutic, Clinicopathological, and Molecular Correlates ofPharmaceuticals (Basel, Switzerland) · 2024Article
- Rare correlation of somatic PRKACA mutations with pregnancy-associated aldosterone- and cortisol-producing adenomas: a case report and literature review.BMC endocrine disorders · 2024Review
- Steroids-producing nodules: a two-layered adrenocortical nodular structure as a precursor lesion of cortisol-producing adenoma.EBioMedicine · 2024Article
- Protein Kinase A in neurological disorders.Journal of neurodevelopmental disorders · 2024Review
- Discovery of a Cushing's syndrome protein kinase A mutant that biases signaling through type I AKAPs.Science advances · 2024Article
- cAMP-PKA/EPAC signaling and cancer: the interplay in tumor microenvironment.Journal of hematology & oncology · 2024Review
42 more citing papers are in PubMed but not listed here.
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23 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Cushing's syndrome is caused by excess cortisol production from the adrenocortical gland. In corticotropin-independent Cushing's syndrome, the excess cortisol production is primarily attributed to an adrenocortical adenoma, in which the underlying molecular pathogenesis has been poorly understood. 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. The L206R PRKACA mutant abolished its binding to the regulatory subunit of PKA (PRKAR1A) that inhibits catalytic activity of PRKACA, leading to constitutive, cAMP-independent PKA activation. These results highlight the major role of cAMP-independent activation of cAMP/PKA signaling by somatic mutations in corticotropin-independent Cushing's syndrome, providing insights into the diagnosis and therapeutics of this syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.