Endocrine Abstracts

The cytoplasmic domains of EGF-like ligands have important biological functions. Stable transfectants of the human follicular thyroid carcinoma cell line FTC-133 over-expressing the cytoplasmic domain of proEGF (FTC-133-proEGFcyt) demonstrated a transcriptional up-regulation of the lysosomal hydrolases cathepsin- (cath-) B and -D and alterations in the processing of cath-L protein. Cath-L has strong elastinolytic activity and was the only of the three cathepsins to be secreted...

The cytoplasmic domain of the membrane-anchored human EGF proform is encoded by exons 22–24 and the function of this proEGFcyt is largely unkown. Stable transfectants of the human thyroid carcinoma (Ca) cell line FTC-133 were generated over-expressing (a) proEGFcyt, (b) truncated peptide version encoded by exons 22 and 23 (proEGF22.23), and (c) a natural splice version with a deletion of exon 23 and 24 (proEGFdel23). ProEGFcyt and proEGF22.23 transfectants, but not proEGF...

AUF1/heterogeneous nuclear ribonucleoprotein D (hnRNPD) is an adenylate uridylate-rich elements (ARE) binding protein, which regulates the mRNA stability of many genes related to growth regulation, such as proto-oncogenes, growth factors, cytokines and cell cycle regulatory genes. Several studies demonstrated AUF1 expression in kidneys, liver, lymphoid tissues and melanocytes, and its involvement in apoptosis, tumorigenesis and development by its interactions with AREs bearing...

Background: Silver-Russell syndrome (SRS) is a unique disorder characterised by characteristic features and growth restriction due to 11p15 LOM or upd(7)Mat in ~60% cases. Monogenic defects are a rare cause of SRS and HMGA2 mutations have been identified in 4 cases to date. The function of HMGA2 is poorly understood.Objectives: Assess the clinical phenotypes of 6 new patients with novel heterozygous HMGA2 defects and evaluate t...

Retinoic acid (RA) acts as an anti-proliferative and re-differentiation agent in the therapy of thyroid carcinoma but the molecular mechanisms by which RA mediates these effects are not well understood. We have investigated the effect of RA on the production and post-translational modification of the two ENO1 transcriptional products in the human follicular thyroid carcinoma cell line FTC-133. The single ENO1 transcript encodes a 48 kDa ENO1 with its unique N-terminal enolase ...

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Point mutations in HMGA2 have been reported in 4 patients worldwide causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective: Identify and f...