Endocrine Abstracts

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...

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...

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...

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...

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...