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Article

Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14.

European journal of human genetics : EJHG - 1 Nov 2016

Martinez Maria Elena, Cox David F, Youth Brian P, Hernandez Arturo

Abstract excerpt

Individuals with uniparental disomy of chromosome 14 (Temple and Kagami-Ogata syndromes) exhibit a number of developmental abnormalities originating, in part, from aberrant developmental expression of imprinted genes in the DLK1-DIO3 cluster. Although genomic imprinting has been reported in humans for some genes in the cluster, little evidence is available about the imprinting status of DIO3, which modulates...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27329732
DOI: 10.1038/ejhg.2016.66
PMCID: PMC5110063

Genes

DIO3
DLK1

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.

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Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14.PMID 27329732Read ↗

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A bipartite element with allele-specific functions safeguards DNA methylation imprints at the <i>Dlk1-Dio3</i> locusSemantic proximity Read ↗

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