Abstract Search

ea0022h1.3 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Libe Rossella , Horvath Anelia , Fratticci Amato , Vezzosi Delphine , Coste Joel , Guillaud-Bataille Marine , Groussin Lionel , Clauser Eric , Sanson Marie Laure Raffin , Bertagna Xavier , Stratakis Constantine , Bertherat Jerome

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...

0 shares

ea0016s14.3 | Basic highlights | ECE2008

Variants of the phosphodiesterase 11A (PDE11A4) gene and genetic predisposition to adrenocortical tumors (ACT)

Libe Rossella , Fratticci Amato , Coste Joel , Groussin Lionel , Horvath Anelia , Rene-Corail Fernande , Bertagna Xavier , Raffin Sanson Marie-Laure , Stratakis Constantine , Bertherat Jerome

Introduction: We have previously identified (using a whole-genome large scale SNP- screening approach) germline inactivating stop codon mutations of the PDE11A4 in patients with Cushing syndrome due to micronodular adrenal hyperplasia. PDE11A4 is a cAMP/cGMP phosphodiesterase.Aim of the study: To investigate the role of PDE11A genetic alterations in a large cohort of ACT.Materials and methods: Leukocyte DNA from 117 adrenocortical ...

0 shares

Endocrine Abstracts

ESE Young Investigator Award

Variants of the phosphodiesterase 11A (PDE11A4) gene and genetic predisposition to adrenocortical tumors (ACT)

BiosciAbstracts