Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes | Zendy

Jérôme Bertherat | Zendy; Anélia Horvath | Zendy; Lionel Groussin | Zendy; Sophie Grabar | Zendy; Sosipatros A. Boikos | Zendy; Laure Cazabat | Zendy; Rossella Libé | Zendy; Fernande René-Corail | Zendy; Sotirios Stergiopoulos | Zendy; Isabelle Bourdeau | Zendy; Thalia Bei | Zendy; Éric Clauser | Zendy; Alain Calender | Zendy; Lawrence S. Kirschner | Zendy; Xavier Bertagna | Zendy; J. Aidan Carney | Zendy; Constantine A. Stratakis | Zendy

Open Access

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Author(s) -

Jérôme Bertherat,

Anélia Horvath,

Lionel Groussin,

Sophie Grabar,

Sosipatros A. Boikos,

Laure Cazabat,

Rossella Libé,

Fernande René-Corail,

Sotirios Stergiopoulos,

Isabelle Bourdeau,

Thalia Bei,

Éric Clauser,

Alain Calender,

Lawrence S. Kirschner,

Xavier Bertagna,

J. Aidan Carney,

Constantine A. Stratakis

Publication year - 2009

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-2333

Subject(s) - phenotype , protein subunit , cyclic adenosine monophosphate , protein kinase a , gene , carney complex , genotype , genotype phenotype distinction , biology , genetics , cancer research , kinase , receptor

The "complex of myxomas, spotty skin pigmentation, and endocrine overactivity," or "Carney complex" (CNC), is caused by inactivating mutations of the regulatory subunit type 1A of the cAMP-dependent protein kinase (PRKAR1A) gene and as yet unknown defect(s) in other gene(s). Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research