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Article

Activating PRKACB somatic mutation in cortisol-producing adenomas.

JCI insight - 19 Apr 2018

Espiard Stéphanie, Knape Matthias J, Bathon Kerstin, Assié Guillaume, Rizk-Rabin Marthe, Faillot Simon, Luscap-Rondof Windy, Abid Daniel, Guignat Laurence, Calebiro Davide, Herberg Friedrich W, Stratakis Constantine A, Bertherat Jérôme

Abstract excerpt

Mutations in the gene encoding the protein kinase A (PKA) catalytic subunit α have been found to be responsible for cortisol-producing adenomas (CPAs). 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. Bioluminescence resonance energy transfer and surface plasmon...

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Source

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Identifiers

PMID: 29669941
DOI: 10.1172/jci.insight.98296
PMCID: PMC5931119

Genes

PRKACB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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