PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 9, 2012, Pages

  Nagasaki, Keisuke ^a,b   Iida, Tomoko ^c   Sato, Hidetoshi ^b   Ogawa, Yohei ^b   Kikuchi, Toru ^b   Saitoh, Akihiko ^b   Ogata, Tsutomu ^a,d   Fukami, Maki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c Niigata National Hospital   (Japan)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; CYCLIC AMP DEPENDENT PROTEIN KINASE; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; FORSKOLIN; G PROTEIN COUPLED RECEPTOR;

ACRODYSOSTOSIS; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL STIMULATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GNAS GENE; HETEROZYGOTE DETECTION; HORMONE RESISTANCE; HUMAN; INFANT; MALE; MISSENSE MUTATION; PHOSPHODIESTERASE 4D GENE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN KINASE CAMP DEPENDENT REGULAROTY TYPE 1 ALPHA GENE; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; WESTERN BLOTTING;

BLOTTING, WESTERN; BODY HEIGHT; BRACHYDACTYLY; CELL LINE, TUMOR; CHILD, PRESCHOOL; CYCLIC AMP; CYCLIC AMP-DEPENDENT PROTEIN KINASE RIALPHA SUBUNIT; CYCLIC AMP-DEPENDENT PROTEIN KINASES; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 3; DYSOSTOSES; FEMALE; HEK293 CELLS; HUMANS; INTELLECTUAL DISABILITY; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PARATHYROID HORMONE; PHOSPHORYLATION; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION; THYROTROPIN; TRANSFECTION;

EID: 84866170771     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1369     Document Type: Article

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