Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.

doi:10.1007/s004390050937

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Article

Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.

Human genetics - 1 Mar 1999

Bhuiyan Z A, Yatsuki H, Sasaguri T, Joh K, Soejima H, Zhu X, Hatada I, Morisaki H, Morisaki T, Mukai T

Abstract excerpt

p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/cyclin-dependent kinase (Cdk) complexes, and is a negative regulator of cell proliferation. The gene encoding p57KIP2 is located at 11p15.5, a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome (BWS). Previously we demonstrated that p57KIP2 is imprinted and only the maternal allele is expressed in both mice and humans. We...

Topics

Animals
Beckwith-Wiedemann Syndrome
CDC2-CDC28 Kinases
COS Cells
Cell Nucleus
Cyclin-Dependent Kinase 2
Cyclin-Dependent Kinase Inhibitor p57
Cyclin-Dependent Kinases
Escherichia coli
Fluorescent Antibody Technique

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Expression Regulation, Bacterial

Humans

Mutation

Nuclear Proteins

Plasmids

Protein Serine-Threonine Kinases

Recombinant Fusion Proteins

Source

Open in PubMed

Identifiers

PMID: 10323243
DOI: 10.1007/s004390050937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome.PMID 10323243Read ↗

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