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The genetic background of acromegaly.
(2017-02)
Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have ...
Reduced protein expression of the phosphodiesterases PDE4A4 and PDE4A8 in AIP mutation positive somatotroph adenomas
© 2018 Type 4 phosphodiesterases (PDE4s) of the large PDE enzyme superfamily have unique specificity for cAMP and may, therefore, be relevant for somatotroph tumorigenesis. Somatotroph adenomas typically overexpress PDEs ...
Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland.
(2018-02-06)
Despite the well-recognized role of loss-of-function mutations of the aryl hydrocarbon receptor interacting protein gene (AIP) predisposing to pituitary adenomas, the pituitary-specific function of this tumor suppressor ...
AIP and the somatostatin system in pituitary tumours.
(2017-12)
Classic somatostatin analogues aimed at somatostatin receptor type 2, such as octreotide and lanreotide, represent the mainstay of medical treatment for acromegaly. These agents have the potential to decrease hormone ...
Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.
(2017-03)
INTRODUCTION: Although most pituitary adenomas occur sporadically, these common tumors can present in a familial setting in approximately 5% of cases. Germline mutations in several genes with autosomal dominant (AIP, MEN1, ...
Genetics of Pituitary Tumours.
(Springer Nature Switzerland AG, 2019-10-07)
Pituitary tumours are relatively common in the general population. Most often they occur sporadically, with somatic mutations accounting for a significant minority of somatotroph and corticotroph adenomas. Pituitary tumours ...
Circulating aryl hydrocarbon receptor-interacting protein (AIP) is independent of GH secretion.
(2019-04)
Background: Aryl hydrocarbon receptor-interacting protein (AIP) is evolutionarily conserved and expressed widely throughout the organism. Loss-of-function AIP mutations predispose to young-onset pituitary adenomas. AIP ...