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Description:
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CDKN1C (a cyclin-dependent kinase inhibitor, p57KIP2) is maternally expressed in humans and mouse. It is completely imprinted in mouse (Hatada I et al, 1995) but only partially in humans (Matsuoka S et al, 1996; Chung WY et al, 1996; Taniguchi T et al, 1997). Silencing of this transcript in persons with Beckwith-Wiedemann syndrome appears to be associated with loss of maternal methylation at the differentially methylated region KvDMR1 (Diaz-Meyer N et al, 2003).
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