Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia [17]

New England Journal of Medicine

Volumn 358, Issue 7, 2008, Pages 750-752

  Horvath, Anelia ^a   Mericq, Veronica ^b   Stratakis, Constantine A ^a  

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

^b UNIVERSITY OF CHILE   (Chile)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP PHOSPHODIESTERASE; G PROTEIN COUPLED RECEPTOR; HYDROCORTISONE; PHOSPHODIESTERASE 11A; PHOSPHODIESTERASE 8B; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ADRENAL CORTEX TUMOR; ADRENAL HYPERPLASIA; AMINO ACID SUBSTITUTION; COMPUTER ASSISTED TOMOGRAPHY; CUSHING SYNDROME; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HORMONE SYNTHESIS; HUMAN; INHERITANCE; LETTER; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 39049101528     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc0706182     Document Type: Letter

References (5)

1. Stratakis CA. Genetics of adrenocortical tumors: gatekeepers, landscapers and conductors in symphony. Trends Endocrinol Metab 2003;14:404-10.
2. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89-92.
3. Horvath A, Boikos S, Giatzakis C, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 2006;38:794-800.
4. Horvath A, Giatzakis C, Robinson-White A, et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 2006;66:11571-5.
5. Bender AT, Beavo JA. Cyclic nucleotide phosphodiesterases: molecular regulation to clinical use. Pharmacol Rev 2006;58:488-520.