Searchable abstracts of presentations at key conferences in endocrinology

ea0014s3.2 | Signaling and regulation of G-protein-coupled hormone receptors | ECE2007

Pharmacological chaperones rescue the membrane expression and function of a mutant of the vasopressin V1b/V3 receptor

Clauser Eric , Robert Jessica , Auzan Colette , Ventura Marie Ange

The majority of loss-of function mutations of G protein coupled receptors, leading to diseases, such as diabetes insipidus (V2 vasopressin receptor) or retinitis pigmentosa (rhodopsin) are consecutive to retention of the receptor in the endoplasmic reticulum (ER). Cell surface expression and biological function can be restored by membrane-permeable ligands called pharmacological chaperones. The V1b/V3R, one of the 3 subtypes of vasopressin receptors, is involved in the regulat...

ea0063oc10.4 | Adrenal 2 | ECE2019

Cullin 3 is a partner of armadillo repeat containing 5 (ARMC5), the product of the gene responsible for primary bilateral macronodular adrenal hyperplasia

Cavalcante Isadora , Vaczlavik Anna , Drougat Ludivine , Lotfi Claudimara , Fragoso Maria , Clauser Eric , Rizk-Rabin Marthe , Bertherat Jerome , Ragazzon Bruno

Background: Germline mutations of ARMC5 (Armadillo repeat containing 5 gene) were identified as a frequent cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). ARMC5 is considered as a tumor suppressor gene regulating apoptosis and steroidogenesis by unknown mechanisms. The ARMC5 protein contains a N-terminal domain made of Armadillo (ARM) repeats and a C-terminal ‘Bric-a-Brac, Tramtrack, Broad-complex/Pox virus and Zinc finger (BTB/POZ)&...

ea0022p47 | Adrenal | ECE2010

Genomic DNA alterations in adrenocortical tumors (ACTs): diagnostic and prognostic value

Assie Guillaume , Barreau Olivia , De Reynies Aurelien , Tissier Fredrique , Groussin Lionel , Bertagna Xavier , Bertherat Jerome , Clauser Eric

The outcome of ACTs can be determined by gene expression level at the RNA level. However RNA handling is challenging. In contrast tumor DNA is robust and therefore easier to use.Aim: To characterize the ACTs DNA alterations; to identify markers with diagnostic and prognostic value using tumor DNA.Methods: The mapping of chromosomal gains and losses of 60 ACTs (39 adenomas (ACAs), 21 carcinomas (ACCs)) was performed with CGH arrays ...

ea0056oc5.5 | Diving deep into adrenal cortex diseases | ECE2018

Cullin 3 is a partner of Armadillo Repeat Containing 5 (ARMC5), the product of the gene responsible for Primary Bilateral Macronodular Adrenal Hyperplasia

Cavalcante Isadora , Clauser Eric , Vaczlavik Anna , Drougat Ludivine , Lotfi Claudimara , Fragoso Maria , Rizk-Rabin Marthe , Bertherat Jerome , Ragazzon Bruno

Background: ARMC5 (armadillo repeat containing 5) has been identified as the gene responsible for PBMAH (Primary Bilateral Macronodular Adrenal Hyperplasia). ARMC5 inactivating mutations are reported in 20 to 25% of PBMAH patients. ARMC5, is considered as a tumor suppressor gene controlling apoptosis and regulating steroidogenesis. The mechanisms of action of ARMC5 are unknown. The structure of the ARMC5 protein contains ARM repeats and a BT...

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...

ea0020htc3 | Hot topics: Clinical | ECE2009

ESE Young Investigator Award

Assie Guillaume , de Reynies Aurelien , Rickman David , Tissier Frederique , Groussin Lionel , Rene-Corail Fernande , Dousset Bertrand , Bertagna Xavier , Clauser Eric , Bertherat Jerome

Diagnosing malignancy and assessing the prognosis of adrenocortical tumors is challenging. The aim is to identify molecular predictors of malignancy and of survival.Patients and methods: Of 153 unilateral adrenocortical tumors were studied by microarray (n=92) or RT-qPCR (n=148). A 2-gene predictor of malignancy was built using the disease-free survival as the end-point in a training cohort (n=47), then validated in an independent va...

ea0041oc1.2 | Adrenal - Basic & Clinical | ECE2016

Focal DNA methylation measurement in adrenocortical carcinoma is a prognostic marker independent from tumor stage and Ki67; an ENSAT study

Assie Guillaume , Jouinot Anne , Libe Rossella , Fassnacht Martin , Sbiera Silviu , Ronchi Cristina , De Krijger Ronald , Waldmann Jens , Quinkler Marcus , Tabarin Antoine , Chabre Olivier , Mantero Franco , Mannelli Massimo , Kerlan Veronique , Groussin Lionel , Baudin Eric , Beuschlein Felix , Clauser Eric , Coste Joel , Bertherat Jerome

Recent pan-genomic analyses of tumor DNA identified specific patterns of DNA methylation –e.g. CpG islands hypermethylation in the promoter regions of genes- as pejorative prognostic markers in adrenocortical cancer (ACC). Integrated genomics clearly shows that ACC with such an hypermethylation belongs to specific subgroups of ACC with increased driver genes alterations and a poor survival.Aim: To confirm the prognostic value of this methylation pat...