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Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

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Abstract

Mice lacking the imprinted Cdk inhibitor p57KIP2 have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; and lens cell hyperproliferation and apoptosis. Many of these phenotypes are also seen in patients with Beckwith–Wiedemann syndrome, a pleiotropic hereditary disorder characterized by overgrowth and predisposition to cancer, suggesting that loss of p57KIP2 expression may play a role in the condition.

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  1. Pumin Zhang and Nanette J. Liégeois: These authors contributed equally to this work

Authors and Affiliations

  1. Verna & Marrs McLean Department of Biochemistry, Baylor College of Medicine, Houston, Texas, 77030, USA

    Pumin Zhang, Calvin Wong, Janet C. Thompson, J. Wade Harper & Stephen J. Elledge

  2. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas, 77030, USA

    Calvin Wong, Janet C. Thompson & Stephen J. Elledge

  3. Department of Pathology, and Baylor College of Medicine, Houston, Texas, 77030, USA

    Milton Finegold

  4. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Stephen J. Elledge

  5. Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York, New York, 10461, USA

    Nanette J. Liégeois, Harry Hou, Adam Silverman & Ronald A. DePinho

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  1. Pumin Zhang
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  2. Nanette J. Liégeois
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Zhang, P., Liégeois, N., Wong, C. et al. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome. Nature 387, 151–158 (1997). https://doi.org/10.1038/387151a0

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  • DOI: https://doi.org/10.1038/387151a0

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