A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.

The CDKN1B gene encodes the cyclin-dependent kinase inhibitor p27(KIP1), an atypical tumor suppressor playing a key role in cell cycle regulation, cell proliferation, and differentiation. Impaired p27(KIP1) expression and/or localization are often observed in tumor cells, further confirming its cent...

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Bibliographic Details
Main Authors: Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, Francesca Boaretto, Denis Ciato, Sara Bobisse, Sergio Ferasin, Filomena Cetani, Elena Pardi, Márta Korbonits, Natalia S Pellegata, Viktoryia Sidarovich, Alessandro Quattrone, Giuseppe Opocher, Franco Mantero, Carla Scaroni
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3605397?pdf=render