Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: Augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1433-1442

  Groussin, Lionel ^a,b   Kirschner, Lawrence S ^c   Vincent Dejean, Caroline ^a   Perlemoine, Karine ^a   Jullian, Eric ^a   Delemer, Brigitte ^d   Zacharieva, Sabina ^e   Pignatelli, Duarte ^f   Carney, J Aidan ^g   Luton, Jean Pierre ^a,b   Bertagna, Xavier ^a,b   Stratakis, Constantine A ^c   Bertherat, Jérôme ^a,b  

^a CNRS   (France)

^b Hôpital Cochin ^*  (France)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^d REIMS UNIVERSITY HOSPITAL   (France)

^e MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^f Faculty of Medicine   (Portugal)

^g MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP DEPENDENT PROTEIN KINASE A REGULATORY SUBUNIT 1A; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ADRENAL CORTEX DISEASE; ADRENAL TUMOR; ADULT; ALLELE; ANIMAL CELL; ARTICLE; CARCINOGENESIS; CARNEY COMPLEX; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; EXON; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; INTRON; MALE; NONHUMAN; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PATHOPHYSIOLOGY; PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ANIMALIA;

EID: 0036907704     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344579     Document Type: Article

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