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Article

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.

Nature genetics - 1 Oct 1996

Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T

Abstract excerpt

p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome...

Topics

Beckwith-Wiedemann Syndrome
Child
Cyclin-Dependent Kinase Inhibitor p57
DNA Mutational Analysis
Female
Genes, Tumor Suppressor
Genetic Carrier Screening
Genomic Imprinting
Humans
Infant, Newborn
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Nuclear Proteins

Source

Identifiers

PMID: 8841187
DOI: 10.1038/ng1096-171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8841187-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.PMID 8841187Read ↗

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

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

Functional analysis of the p57KIP2 gene mutation 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 ↗

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

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.Semantic proximity Read ↗

p57K1P2 is expressed in Wilms' tumor with LOH of 11p15.5.Semantic proximity Read ↗

Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.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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