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Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

27 Mar 2015

Abstract excerpt

CDKN1C (also known as P57 (kip2) ) is a cyclin-dependent kinase inhibitor that functions as a negative regulator of cell proliferation through G1 phase cell cycle arrest. Recently, our group described gain-of-function mutations in the PCNA-binding site of CDKN1C that result in an undergrowth syndrome called IMAGe Syndrome (Intrauterine Growth Restriction, Metaphyseal dysplasia, Adrenal hypoplasia, and Genital...

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PMID: 25861374
DOI: 10.1186/s13008-015-0008-8

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