{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Baba R"],"funding":["BLRD VA","Suzuken Memorial Foundation","Takeda Science Foundation","NHLBI NIH HHS","National Heart, Lung, and Blood Institute","Mochida Memorial Foundation for Medical and Pharmaceutical Research","National Institute of General Medical Sciences","U.S. Department of Veterans Affairs","NIGMS NIH HHS","Japan Society for the Promotion of Science"],"pagination":["111456"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8551059"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["538"],"pubmed_abstract":["The intracellular molecular mechanisms underlying the genotype of cortisol-producing adenoma (CPA) have not been fully determined. We analyzed gene expressions in CPA and the human adrenocortical cell line (HAC15 cells) with PRKACA mutation. Clustering analysis using a gene set associated with responses to cAMP revealed the possible differences between PRKACA mutant CPAs and GNAS and CTNNB1 mutant CPAs. The levels of STAR, CYP11A1, CYP17A1, CYP21A2, and FDX1 transcripts and cortisol levels per unit area in PRKACA mutant CPAs were significantly higher than those in GNAS mutant CPAs. PRKACA mutations led to an increase in steroidogenic enzyme expression and cortisol production in HAC15 cells. Transcriptome analysis revealed differences between PRKACA mutant CPAs and GNAS and CTNNB1 mutant CP"],"journal":["Molecular and cellular endocrinology"],"pubmed_title":["Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations."],"pmcid":["PMC8551059"],"funding_grant_id":["JP19K17964","JP21K16058","1U54GM115428","I01 BX004681","JP21K08557","R01 HL144847","U54 GM115428"],"pubmed_authors":["Gomez-Sanchez CE","Nagano G","Otagaki Y","Oki K","Kodama T","Baba R","Kobuke K","Itcho K","Yoneda M","Hattori N","Ohno H"],"additional_accession":[]},"is_claimable":false,"name":"Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations.","description":"The intracellular molecular mechanisms underlying the genotype of cortisol-producing adenoma (CPA) have not been fully determined. We analyzed gene expressions in CPA and the human adrenocortical cell line (HAC15 cells) with PRKACA mutation. Clustering analysis using a gene set associated with responses to cAMP revealed the possible differences between PRKACA mutant CPAs and GNAS and CTNNB1 mutant CPAs. The levels of STAR, CYP11A1, CYP17A1, CYP21A2, and FDX1 transcripts and cortisol levels per unit area in PRKACA mutant CPAs were significantly higher than those in GNAS mutant CPAs. PRKACA mutations led to an increase in steroidogenic enzyme expression and cortisol production in HAC15 cells. Transcriptome analysis revealed differences between PRKACA mutant CPAs and GNAS and CTNNB1 mutant CP","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2025-04-26T09:41:01.133Z","creation":"2025-04-26T09:41:01.133Z"},"accession":"S-EPMC8551059","cross_references":{"pubmed":["34520814"],"doi":["10.1016/j.mce.2021.111456"]}}