Searchable abstracts of presentations at key conferences in endocrinology

ea0005p255 | Thyroid | BES2003

Preliminary evidence for genetic heterogeneity in the autoimmune polyendocrinopathy and enteropathy syndrome (IPEX)

Owen C , Jennings C , Imrie H , Lachaux A , Bridges N , Cheetham T , Pearce S

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...

ea0002p48 | Genetics | SFE2001

Association analysis of the Deleted in colorectal carcinoma (DCC) gene in Graves' disease

Jennings C , Imrie H , Vaidya B , Kendall-Taylor P , Pearce S

Graves' disease (GD) is inherited as a complex trait and previous studies have identified linkage and association of both GD and type 1 diabetes to markers on chromosome 18q21. A candidate gene for autoimmunity that is contained within the critical interval on 18q21 is the apoptosis regulator 'Deleted in Colorectal Carcinoma' (DCC).317 Graves' disease probands and 311 controls were genotyped for a single nucleotide polymorphism that encodes a glycine to ...

ea0019p140 | Diabetes, Metabolism and Cardiovascular | SFEBES2009

Heterozygous knockout of the insulin-like growth factor 1 receptor in mice leads to impaired glucose tolerance, enhanced insulin sensitivity and increased endothelial basal nitric oxide production

Abbas A , Imrie H , Viswambharan H , Rajwani A , Kahn M , Cubbon R , Gage M , Wheatcroft S , Grant P , Kearney M

Introduction: Insulin-like growth factor 1 (IGF-1), acting via similar signalling pathways to insulin, enhances glucose uptake and nitric oxide (NO) production. Observational studies suggest a role for (IGF-1) in insulin resistance and cardiovascular disease. To investigate this further we used a murine model with heterozygous knockout of the IGF-1 receptor.Methods: Metabolic tolerance tests were performed in vivo on unanaesthetised mice, heterozy...