In Vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3′-untranslated open reading frame: Proteasomal degradation leads to RIα haploinsufficiency and carney complex

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 3, 2012, Pages

  Patronas, Yianna ^a   Horvath, Anelia ^a   Greene, Elizabeth ^a   Tsang, Kitman ^a   Bimpaki, Eirini ^a   Haran, Michelle ^a   Nesterova, Maria ^a   Stratakis, Constantine A ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE REGULATORY SUBUNIT IALPHA;

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CARNEY COMPLEX; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; NONSENSE MEDIATED MRNA DECAY; OPEN READING FRAME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRKAR1A GENE; PROTEIN DEGRADATION; PROTEIN FOLDING; SITE DIRECTED MUTAGENESIS; STOP CODON; WESTERN BLOTTING;

ADOLESCENT; ADULT; CARNEY COMPLEX; CHILD; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; FEMALE; GENOTYPE; HAPLOINSUFFICIENCY; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; OPEN READING FRAMES; PHENOTYPE; PROTEASOME ENDOPEPTIDASE COMPLEX;

EID: 84858054011     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2220     Document Type: Article

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