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Article

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1.

Nature genetics - 1 Nov 2002

Fitzpatrick Galina V, Soloway Paul D, Higgins Michael J

Abstract excerpt

Genomic imprinting is an epigenetic modification that results in expression from only one of the two parental copies of a gene. Differences in methylation between the two parental chromosomes are often observed at or near imprinted genes. Beckwith-Wiedemann syndrome (BWS), which predisposes to ca...

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Source

Identifiers

PMID: 12410230
DOI: 10.1038/ng988

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12410230-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1.PMID 12410230Read ↗

Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndromeSemantic proximity Read ↗

Silencing of <i>CDKN1C</i> (<i>p57<sup>KIP2</sup> </i>) is associated with hypomethylation at KvDMR1 in Beckwith–Wiedemann syndromeSemantic proximity Read ↗

Imprinting of mouse Kvlqt1 is developmentally regulated.Semantic proximity Read ↗

Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1.Semantic proximity Read ↗

Methylation pattern at the KvDMR in a child with Beckwith–Wiedemann syndrome conceived by ICSISemantic proximity Read ↗

Intraspecific mating with CzechII/Ei mice rescue lethality associated with loss of function mutations of the imprinted genes, Igf2r and Cdkn1c.Semantic proximity Read ↗

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1.Semantic proximity Read ↗

Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovineSemantic proximity Read ↗

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.Semantic proximity Read ↗

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Imprinting disruption of the <i>CDKN1C</i>/<i>KCNQ1OT1</i> domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancerSemantic proximity Read ↗

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