Skills (1)
Research experience
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Mar 2013–
presentResearch: National Institutes of Health
National Institutes of Health · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Dr StratakisUSA · Bethesda -
Feb 2011–
Feb 2013Research: Queen Mary University of London
Queen Mary University of London · Centre for Endocrinology · Prof KorbonitsUnited Kingdom · London -
Oct 2009–
Sep 2010Research: Queen Mary University of London
Queen Mary, University of London · Centre for Endocrinology · Prof KorbonitsUnited Kingdom · London -
Jan 2008–
Jan 2011Research: University-Hospital of Padova
University-Hospital of Padova · Prof Mantero-ScaroniItaly · Padova
Other
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LanguagesItalian, English
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Scientific MembershipsSociety for Endocrinology, European Society of Endocrinology, Endocrine Society
Publications (19) View all
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Dataset: Supplemetary data for Occhi 2011 Journal of Neuroendocrinology GIPR overexpression in acromegaly
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Dataset: Supplementary data for Trivellin 2011 AIP and its interacting partners
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Dataset: Supplementary data for Igreja 2010 Characterization of AIP mutations in FIPA families
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Dataset: Supplementary data for Morgan 2012 Structure of the TPR domain of AIP - lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for PAP
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Article: Genetics of pituitary adenomas.
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ABSTRACT: Pituitary adenomas are common tumors of the adenohypophysis which can cause considerable morbidity, due to excessive hormonal secretion or compression and local invasion of surrounding structures. The vast majority of pituitary adenomas occur sporadically. Altered gene expression is commonly detected but somatic mutations, epigenetic changes and abnormal microRNAs have also been described. Occurrence of GNAS mutations at a postzygotic stage lead to McCune-Albright syndrome (MAS), a disease causing endocrine hyperfunction and tumors in several organs, including the pituitary. Familial pituitary adenomas occur as part of a syndrome affecting other organs, such as in MEN1 or Carney complex, or occur with pituitary adenomas only as in familial isolated pituitary adenoma (FIPA). FIPA, an autosomal-dominant disease with variable penetrance, is explained in 20% of patients by germline mutations in the tumor suppressor aryl hydrocarbon receptor interacting protein(AIP), while no gene abnormality has been identified to date in the majority of the FIPA families. AIP mutation-positive patients have a characteristic clinical phenotype with usually young- or childhood-onset growth hormone (GH) and/or prolactin (PRL)-secreting adenomas and can be seen in cases with no apparent family history as well. Understanding the tumorigenic process in AIP-positive and AIP-negative FIPA patients could result in better diagnostic and treatment options for both familial and sporadic cases.Frontiers of hormone research 01/2013; 41:111-40. · 1.71 Impact Factor
