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Article

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.

PloS one - 1 Jan 2013

Hamajima Naoki, Johmura Yoshikazu, Suzuki Satoshi, Nakanishi Makoto, Saitoh Shinji

Abstract excerpt

Mutations in the proliferating cell nuclear antigen (PCNA)-binding domain of the CDKN1C gene were recently identified in patients with IMAGe syndrome. However, loss of PCNA binding and suppression of CDKN1C monoubiquitination by IMAGe-associated mutations hardly explain the reduced-growth phenotype characteristic of IMAGe syndrome. We demonstrate here that IMAGe-associated mutations in the CDKN1C gene...

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Source

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Identifiers

PMID: 24098681
DOI: 10.1371/journal.pone.0075137
PMCID: PMC3787065

Genes

PCNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.PMID 24098681Read ↗

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phaseSemantic proximity Read ↗

Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.Semantic proximity Read ↗

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Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay.Semantic proximity Read ↗

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A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.Semantic proximity Read ↗

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