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Article

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

PLoS genetics - 1 Mar 2013

Occhi Gianluca, Regazzo Daniela, Trivellin Giampaolo, Boaretto Francesca, Ciato Denis, Bobisse Sara, Ferasin Sergio, Cetani Filomena, Pardi Elena, Korbonits Márta, Pellegata Natalia S, Sidarovich Viktoryia, Quattrone Alessandro, Opocher Giuseppe, Mantero Franco, Scaroni Carla

Abstract excerpt

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 central role in regulating the cell cycle. Recently, germline mutations in CDKN1B have been associated with the...

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Identifiers

PMID: 23555276
DOI: 10.1371/journal.pgen.1003350
PMCID: PMC3605397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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