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12th European Congress of Endocrinology


Oral Communications Highlights 1

ea0022h1.1 | Oral Communications Highlights 1 | ECE2010

PEX11β deficiency impaired ossification by indirectly activating PPARγ expression and diminishing Runx2 activity

Qian Guofeng , Ahlemeyer Barbara , Obert Martin , Traupe Horst , Baumgart-Vogt Eveline

Ossification defects have been described in patients with peroxisomal disorders, autosomal-recessive diseases due to the impairment of peroxisome biogenesis. However, the functions of peroxisomes in skeletal tissues are unknown. In the present study, we used a knockout (KO) mouse model, defective in the PEX11β gene, to investigate the molecular pathogenesis of the ossification defect. Alizarin Red/Alzian Blue stainings, flat-panel volume-CT (fpvCT), and immunofluorescence...

ea0022h1.2 | Oral Communications Highlights 1 | ECE2010

Novel pathogenetic pathways of adrenocortical tumors revealed by meta-analysis of genomics data

Szabo Peter , Tamasi Viola , Andrasfalvy Marton , Patocs Attila , Toth Miklos , Falus Andras , Racz Karoly , Igaz Peter

Objective: Sporadic adrenocortical tumors are common, but their pathogenesis is poorly elucidated. Several mRNA profiling and comparative genome hybridization (CGH) studies have been performed on adrenocortical tumors to date. Meta-analysis of these results may be warranted due to the low number of tumor samples examined in several individual studies. Here, we present an integrative meta-analysis of gene expression microarray and CGH studies performed to date on sporadic adren...

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...

ea0022h1.4 | Oral Communications Highlights 1 | ECE2010

Physiological rescue by functional complementation of mutated LH receptors in transgenic mice

Rivero-Muller Adolfo , Chou Yen-Yin , Lajic Svetlana , Hanyaloglu Aylin , Jonas Kim , Rahman Nafis , Ji Tae , Huhtaniemi Ilpo

The LH receptor (LHR) is a 7-transmembrane domain G-protein coupled receptor (GPCR) mainly expressed in the gonads with a major role in the development and maintenance of gonadal steroidogenesis and gametogenesis. Its ligand LH, secreted by the pituitary gland, binds to the extracellular domain of LHR triggering a conformational change in the transmembrane domain and leading to activation of intracellular signalling cascades.As a member of the GPCR famil...

ea0022h1.5 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Cirello Valentina , Muzza Marina , Castorina Pierangela , Beck-Peccoz Paolo , Fugazzola Laura

Mutations in SLC26A4 cause Pendred syndrome (PS) and a non syndromic deafness associated with the enlargement of the vestibular aqueduct (LVAS). In many patients with a PS/LVAS phenotype, mutation screening of SLC26A4 fails to identify two disease-causing allele variants, suggesting that other genetic factors could be involved. Indeed, mutations in the SLC26A4 promoter (FBS1), in FOXI1, a transcriptional activator of SLC26A4, and in a K+ channel gene (KCNJ10) have been very re...