Ontology type: schema:ScholarlyArticle
2016-05
AUTHORSMaya Lodish, Constantine A. Stratakis
ABSTRACTPrimary adrenal Cushing syndrome is the result of cortisol hypersecretion mainly by adenomas and, rarely, by bilateral micronodular or macronodular adrenocortical hyperplasia. cAMP-dependent protein kinase A (PKA) signalling is the major activator of cortisol secretion in the adrenal cortex. Many adenomas and hyperplasias associated with primary hypercortisolism carry somatic or germline mutations in genes that encode constituents of the cAMP-PKA pathway. In this Review, we discuss Cushing syndrome and its linkage to dysregulated cAMP-PKA signalling, with a focus on genetic findings in the past few years. In addition, we discuss the presence of germline inactivating mutations in ARMC5 in patients with primary bilateral macronodular adrenocortical hyperplasia. This finding has implications for genetic counselling of affected patients; hitherto, most patients with this form of adrenal hyperplasia and Cushing syndrome were thought to have a sporadic and not a familial disorder. More... »
PAGES255-262
http://scigraph.springernature.com/pub.10.1038/nrendo.2016.24
DOIhttp://dx.doi.org/10.1038/nrendo.2016.24
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/26965378
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curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nrendo.2016.24'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nrendo.2016.24'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nrendo.2016.24'
This table displays all metadata directly associated to this object as RDF triples.
307 TRIPLES
21 PREDICATES
101 URIs
28 LITERALS
16 BLANK NODES