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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0031437,
umls-concept:C0039590,
umls-concept:C0243067,
umls-concept:C0332183,
umls-concept:C0406810,
umls-concept:C0521428,
umls-concept:C0913577,
umls-concept:C1314792,
umls-concept:C1418413,
umls-concept:C1418907,
umls-concept:C1514623,
umls-concept:C1516451,
umls-concept:C1880177
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-6
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pubmed:abstractText |
Carney complex (CNC) is an autosomal dominant multiple neoplasia, caused mostly by inactivating mutations of the regulatory subunit 1A of the protein kinase A (PRKAR1A). Primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine manifestation of CNC with a great inter-individual variability. Germline, protein-truncating mutations of phosphodiesterase type 11A (PDE11A) have been described to predispose to a variety of endocrine tumors, including adrenal and testicular tumors.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1945-7197
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pubmed:author |
pubmed-author:BertagnaXavierX,
pubmed-author:BertheratJeromeJ,
pubmed-author:ClauserEricE,
pubmed-author:CosteJoelJ,
pubmed-author:Drori-HerishanuLimorL,
pubmed-author:FauczFabio RuedaFR,
pubmed-author:FratticciAmatoA,
pubmed-author:GroussinLionelL,
pubmed-author:Guillaud-BatailleMarineM,
pubmed-author:HorvathAneliaA,
pubmed-author:LibéRossellaR,
pubmed-author:LodishMayaM,
pubmed-author:MoranJasonJ,
pubmed-author:NesterovaMariaM,
pubmed-author:PerlemoineKarineK,
pubmed-author:Raffin-SansonMarie-LaureML,
pubmed-author:RagazzonBrunoB,
pubmed-author:SiegelJenniferJ,
pubmed-author:StratakisConstantine ACA,
pubmed-author:VezzosiDelphineD
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pubmed:issnType |
Electronic
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pubmed:volume |
96
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
E208-14
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pubmed:dateRevised |
2011-2-15
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pubmed:meshHeading |
pubmed-meshheading:21047926-Adolescent,
pubmed-meshheading:21047926-Adrenal Gland Neoplasms,
pubmed-meshheading:21047926-Adult,
pubmed-meshheading:21047926-Carney Complex,
pubmed-meshheading:21047926-Child,
pubmed-meshheading:21047926-Child, Preschool,
pubmed-meshheading:21047926-Cyclic AMP-Dependent Protein Kinase RIalpha Subunit,
pubmed-meshheading:21047926-Female,
pubmed-meshheading:21047926-Genetic Variation,
pubmed-meshheading:21047926-HEK293 Cells,
pubmed-meshheading:21047926-Humans,
pubmed-meshheading:21047926-Male,
pubmed-meshheading:21047926-Middle Aged,
pubmed-meshheading:21047926-Mutation,
pubmed-meshheading:21047926-Phenotype,
pubmed-meshheading:21047926-Phosphoric Diester Hydrolases,
pubmed-meshheading:21047926-RNA, Small Interfering,
pubmed-meshheading:21047926-Sertoli Cell Tumor,
pubmed-meshheading:21047926-Sex Factors,
pubmed-meshheading:21047926-Testicular Neoplasms
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pubmed:year |
2011
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pubmed:articleTitle |
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
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pubmed:affiliation |
Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural,
Research Support, N.I.H., Intramural
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