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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, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical...

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PMID: 8841187
DOI: 10.1038/ng1096-171

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

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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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