Searchable abstracts of presentations at key conferences in endocrinology

ea0011oc42 | Endocrine genetics | ECE2006

Linkage of a fourth gene for familial glucocorticoid deficiency to chromosome 13q

Metherell LA , Becker C , Ruschendorf F , Naville D , Begeot M , Nurnberg P , Huebner A , Savage MO , Clark AJL

Expression of the ACTH receptor (MC2R), a 7 transmembrane GPCR, has been difficult to achieve in cell lines that are not of adrenal origin. Heterologous expression of this gene in many cell lines (CHO, Hela, H295R, HEK293) produces a protein that is trapped in the ER, suggesting that an accessory factor(s) might be necessary to traffic MC2R through the cell. We recently identified such an accessory factor, MRAP that rescues MC2R expression in some, but not all, cell lines. Mut...

ea0025s2.2 | Novel pathways and treatments in neuroendocrine tumours | SFEBES2011

Integrated genome-wide DNA methylation and mRNA expression analysis of pancreatic NETs

Thirlwell Christina , Schulz Laura , Eymard Marianne , Meyer Tim , Davidson Brian , Teschendorff Andrew , Jiao Yan , Luong Tu-Vinh , Caplin Martyn , Beck Stephan

Integration of genetics and epigenetics has emerged as a powerful approach to study cellular differentiation and tumourigenesis. The study of DNA methylation is of particular importance in cancer as causal involvement has been demonstrated and it is the most stable of all epigenetic modifications, making it a desirable marker for both early detection and treatment of tumours. Hypermethylation of CpG sites in gene promoter regions leads to decreased gene expression, if such a g...