Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

CDKN1C mutations: two sides of the same coin.

Trends in molecular medicine - 1 Nov 2014

Eggermann Thomas, Binder Gerhard, Brioude Frédéric, Maher Eamonn R, Lapunzina Pablo, Cubellis Maria Vittoria, Bergadá Ignacio, Prawitt Dirk, Begemann Matthias

Abstract excerpt

Cyclin-dependent kinase (CDK)-inhibitor 1C (CDKN1C) negatively regulates cellular proliferation and it has been shown that loss-of-function mutations in the imprinted CDKN1C gene (11p15.5) are associated with the overgrowth disorder Beckwith-Wiedemann syndrome (BWS). With recent reports of gain-of-function mutations of the PCNA domain of CDKN1C in growth-retarded patients with IMAGe syndrome or Silver-Russell...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease Management
Share to Fetal Growth Retardation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteochondrodysplasias

Share to Urogenital Abnormalities

Share to Chromosomes, Human, Pair 11

Share to Cyclin-Dependent Kinase Inhibitor p57

Share to Adrenal Insufficiency

Share to Beckwith-Wiedemann Syndrome

Source

Identifiers

PMID: 25262539
DOI: 10.1016/j.molmed.2014.09.001

Genes

PCNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CDKN1C mutations: two sides of the same coin.PMID 25262539Read ↗

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.Semantic proximity Read ↗

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.Semantic proximity Read ↗

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

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

Analysis of CDKN1C in fetal growth restriction and pregnancy lossSemantic proximity Read ↗

CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.Semantic proximity Read ↗

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

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.Semantic proximity Read ↗

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.Semantic proximity Read ↗

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.Semantic proximity Read ↗

Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read ↗

Molecular genetics of Wiedemann-Beckwith syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.