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Article

Loss of imprinting mutations define both distinct and overlapping roles for misexpression of IGF2 and of H19 lncRNA.

Nucleic acids research - 15 Dec 2017

Park Ki-Sun, Mitra Apratim, Rahat Beenish, Kim Keekwang, Pfeifer Karl

Abstract excerpt

Imprinted genes occur in discrete clusters that are coordinately regulated by shared DNA elements called Imprinting Control Regions. H19 and Igf2 are linked imprinted genes that play critical roles in development. Loss of imprinting (LOI) at the IGF2/H19 locus on the maternal chromosome is associated with the developmental disorder Beckwith Wiedemann Syndrome (BWS) and with several cancers. Here we use...

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Source

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Identifiers

PMID: 29244185
DOI: 10.1093/nar/gkx896
PMCID: PMC5727439

Genes

IGF2

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Loss of imprinting mutations define both distinct and overlapping roles for misexpression of IGF2 and of H19 lncRNA.PMID 29244185Read ↗

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNASemantic proximity Read ↗

Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA.Semantic proximity Read ↗

Igf2-H19, an imprinted tandem gene, is an important regulator of embryonic development, a guardian of proliferation of adult pluripotent stem cells, a regulator of longevity, and a ‘passkey’ to cancerogenesisSemantic proximity Read ↗

Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.Semantic proximity Read ↗

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Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes.Semantic proximity Read ↗

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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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