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dc.contributor.authorTunster, Simon J
dc.contributor.authorVan de Pette, Mathew
dc.contributor.authorCreeth, Hugo DJ
dc.contributor.authorLefebvre, Louis
dc.contributor.authorJohn, Rosalind M
dc.date.accessioned2018-11-13T00:31:03Z
dc.date.available2018-11-13T00:31:03Z
dc.date.issued2018-11-16
dc.identifier.issn1754-8403
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284973
dc.description.abstractBeckwith-Wiedemann syndrome (BWS) is a complex imprinting disorder involving fetal overgrowth and placentomegaly, and is associated with a variety of genetic and epigenetic mutations affecting the expression of imprinted genes on human chromosome 11p15.5. Most BWS cases are linked to loss of methylation at the imprint control region 2 (ICR2) within this domain, which in mice regulates the silencing of several maternally expressed imprinted genes. Modelling this disorder in mice is confounded by the unique embryonic requirement for Ascl2, which is imprinted in mice but not in humans. To overcome this issue, we generated a novel model combining a truncation of distal chromosome 7 allele (DelTel7) with transgenic rescue of Ascl2 expression. This novel model recapitulated placentomegaly associated with BWS, but did not lead to fetal overgrowth.
dc.description.sponsorshipCanadian Institutes of Health Research (MOP-451 119357) NSERC (RGPIN 386979-12) The Waterloo Foundation Ewan Maclean Fellowship
dc.format.mediumElectronic
dc.languageeng
dc.publisherThe Company of Biologists
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectTrophoblasts
dc.subjectFetus
dc.subjectPlacenta
dc.subjectAnimals
dc.subjectMice
dc.subjectEmbryo Loss
dc.subjectFetal Growth Retardation
dc.subjectBeckwith-Wiedemann Syndrome
dc.subjectDisease Models, Animal
dc.subjectGlycogen
dc.subjectGene Expression Regulation, Developmental
dc.subjectCell Lineage
dc.subjectPregnancy
dc.subjectModels, Genetic
dc.subjectFemale
dc.subjectBasic Helix-Loop-Helix Transcription Factors
dc.subjectBiomarkers
dc.titleFetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.
dc.typeArticle
prism.issueIdentifier11
prism.publicationDate2018
prism.publicationNameDis Model Mech
prism.volume11
dc.identifier.doi10.17863/CAM.32344
dcterms.dateAccepted2018-08-17
rioxxterms.versionofrecord10.1242/dmm.035832
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
rioxxterms.licenseref.startdate2018-11-16
dc.contributor.orcidTunster, Simon J [0000-0002-2242-9452]
dc.identifier.eissn1754-8411
rioxxterms.typeJournal Article/Review
cam.issuedOnline2018-11-16


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International