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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...

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PMID: 10323243
DOI: 10.1007/s004390050937

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.Semantic proximity Read ↗

p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors.Semantic proximity Read ↗

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.Semantic proximity Read ↗

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.Semantic proximity Read ↗

Mice lacking a CDK inhibitor, p57Kip2, exhibit skeletal abnormalities and growth retardation.Semantic proximity Read ↗

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.Semantic proximity Read ↗

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