Introduction: MENX is a spontaneous multiple endocrine neoplasia syndrome in the rat showing phenotypic overlap with both MEN1 and MEN2 human syndromes. MENX is caused by a biallelic germline mutation of the Cdkn1b (p27) gene and it was described as recessively inherited. CDKN1B alterations have been also identified in human patients with MEN1-like features but no MEN1 mutations (MEN4).
Presenting Author: PhD Sara Molatore
Introduction: The Cdkn1b gene, encoding p27, is a tumor susceptibility gene for multiple endocrine neoplasia syndromes in rats (MENX) and humans (MEN4) with development of pheochromocytoma (PCC), respectively. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Andrea Richter