Objective "Background: Pituitary adenomas are a public health problem, due to their prevalence, morbidity and medical costs. AIP is a tumor suppressor gene that was recently linked to pituitary tumors in up to 30% of the familial isolated pituitary adenoma syndrome (FIPA) families, an autosomal dominant disease with incomplete penetrance. AIP mutation-positive patients are younger (children/young adults), have more aggressive disease, and respond less well to treatment than non-mutated patients. The mechanisms by which inactivating AIP mutations promote tumorigenesis remain unknown. Abnormal, mislocalised AIP expression in sporadic pituitary adenomas suggest a possible role in sporadic pituitary adenoma development as well. Very little is known about the normal and pathological regulation of AIP expression.Objective: To uncover major AIP transcription regulation by its canonical promoter, miRNA species and epistatic action of distant regulatory SNPs (eQTLs).Methods: 1) In vitro functional promoter dissection and identification of operating transcription factors and investigation of promoter mutations in FIPA families.2) Screening and validation of miRNA species acting on AIP and study of their expression in pituitary adenomas and correlation with clinical / pathological features.3) Detection and validation of AIP eQTLs and study of their implication in AIP mutation penetrance and their association with sporadic pituitary adenomas and their clinical/pathological features.Work programme relevance: Training through research in a major European pituitary centre will ensure development of essential experimental, theoretical and organizational skills of the fellow and will advance research at the host institution, thus improving quality of research at the ERA. The research results will have a significant impact not only on pituitary research, but also endocrinology (including pediatrics) and cancer research." Fields of science medical and health scienceshealth sciencespublic healthnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicineoncologymedical and health sciencesclinical medicineendocrinology Programme(s) FP7-PEOPLE - Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Topic(s) FP7-PEOPLE-2011-IEF - Marie-Curie Action: "Intra-European fellowships for career development" Call for proposal FP7-PEOPLE-2011-IEF See other projects for this call Funding Scheme MC-IEF - Intra-European Fellowships (IEF) Coordinator QUEEN MARY UNIVERSITY OF LONDON Address 327 mile end road E1 4NS London United Kingdom See on map Region London Inner London — East Tower Hamlets Activity type Higher or Secondary Education Establishments Administrative Contact Tanya Szendeffy (Ms.) Links Contact the organisation Opens in new window Website Opens in new window EU contribution No data
