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http://purl.uniprot.org/citations/19429701http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/19429701http://www.w3.org/2000/01/rdf-schema#comment"

Context

Bilateral adrenal hyperplasias (BAHs) may be caused by mutations of genes that code for molecules that participate in cAMP signaling. Little is known about cAMP signaling in adrenal lesions associated with ACTH-independent Cushing syndrome (AICS) that do not harbor mutations in known genes.

Objective

We assessed the cAMP-signaling pathway by enzymatic and molecular studies.

Design

Samples from 27 patients (ages 5-60 years) were studied and compared with normal adrenocortical tissue (n=4) and aldosterone-producing adenomas (APA, n=5). All samples were sequenced for GNAS, PRKAR1A, PDE11A, and PDE8B sequencing defects. cAMP levels and binding, protein kinase A, and phosphodiesterase (PDE) activities were assayed. Immunohistochemistry was used for certain studies and the phosphorylation status of CREB was studied.

Patients

A total of 36 samples from patients were used.

Results

Cortisol-producing adenomas (CPAs) and other lesions that were GNAS, PRKAR1A, PDE11A, and PDE8B gene mutation-negative were compared with PRKAR1A mutation-positive lesions, normal tissue, and APAs; abnormalities of the cAMP-signaling pathway were found in both BAHs and CPAs. Interestingly, mutation-negative CPAs had significantly decreased PDE activity.

Conclusion

Lesions of the adrenal associated with AICS, independently of their GNAS, PRKAR1A, PDE11A, and PDE8B mutation status, have functional abnormalities of cAMP signaling. It is probable that epigenetic events or additional defects of genes involved in this pathway are responsible for this phenomenon."xsd:string
http://purl.uniprot.org/citations/19429701http://purl.org/dc/terms/identifier"doi:10.1530/eje-09-0027"xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/author"Stratakis C.A."xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/author"Nesterova M."xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/author"Bimpaki E.I."xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/date"2009"xsd:gYear
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/name"Eur J Endocrinol"xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/pages"153-161"xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/title"Abnormalities of cAMP signaling are present in adrenocortical lesions associated with ACTH-independent Cushing syndrome despite the absence of mutations in known genes."xsd:string
http://purl.uniprot.org/citations/19429701http://purl.uniprot.org/core/volume"161"xsd:string
http://purl.uniprot.org/citations/19429701http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/19429701
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