Abstract
Mice lacking the imprinted Cdk inhibitor p57(KIP2) 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 p57(KIP2) expression may play a role in the condition.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abdomen
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Abnormalities, Multiple / embryology
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adrenal Cortex / embryology
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Adrenal Cortex / pathology
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Animals
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Animals, Newborn
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Apoptosis
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Beckwith-Wiedemann Syndrome / genetics*
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Beckwith-Wiedemann Syndrome / metabolism
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Beckwith-Wiedemann Syndrome / pathology
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Cartilage / cytology
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Cartilage / metabolism
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Cartilage / pathology
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Cell Differentiation*
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Cell Division*
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Crosses, Genetic
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Cyclin-Dependent Kinase Inhibitor p57
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Cyclin-Dependent Kinases / antagonists & inhibitors
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Enzyme Inhibitors
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Female
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Gene Expression
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Gene Targeting
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Hernia, Umbilical / embryology
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Hernia, Umbilical / genetics
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Hernia, Umbilical / pathology
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Kidney Medulla / embryology
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Kidney Medulla / pathology
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Lens, Crystalline / cytology
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Male
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Mice
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Mice, Inbred C57BL
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Muscle, Skeletal / embryology
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Muscle, Skeletal / pathology
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Nuclear Proteins / genetics*
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Nuclear Proteins / physiology
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Osteogenesis
Substances
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Cdkn1c protein, mouse
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Cyclin-Dependent Kinase Inhibitor p57
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Enzyme Inhibitors
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Nuclear Proteins
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Cyclin-Dependent Kinases