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Risk category system to identify pituitary adenoma patients with AIP mutations.
BACKGROUND: Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system ...
Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.
While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ...
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ...
Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.
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, ...