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dc.contributor.authorGeorgiades, Pantelisen
dc.contributor.authorWatkins, M.en
dc.contributor.authorSurani, M. A.en
dc.contributor.authorFerguson-Smith, A. C.en
dc.creatorGeorgiades, Pantelisen
dc.creatorWatkins, M.en
dc.creatorSurani, M. A.en
dc.creatorFerguson-Smith, A. C.en
dc.date.accessioned2019-11-04T12:50:37Z
dc.date.available2019-11-04T12:50:37Z
dc.date.issued2000
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53095
dc.description.abstractGenetic analysis has shown that the distal portion of mouse chromosome 12 is imprinteden
dc.description.abstracthowever, the developmental roles of imprinted genes in this region are not known. We have therefore generated conceptuses with uniparental disomy for chromosome 12, in which both copies of chromosome 12 are either paternally or maternally derived (pUPD12 and mUPD12, respectively). Both types of UPD12 result in embryos that are non-viable and that exhibit distinct developmental abnormalities. Embryos with pUPD12 die late in gestation, whereas embryos with mUPD12 can survive to term but die perinatally. The mUPD12 conceptuses are invariably growth-retarded while pUPD12 conceptuses exhibit placentomegaly. Skeletal muscle maturation defects are evident in both types of UPD12. In addition, embryos with paternal UPD12 have costal cartilage defects and hypo-ossification of mesoderm-derived bones. In embryos with mUPD12, the development of the neural crest-derived middle ear ossicles is defective. Some of these anomalies are consistent with those seen with uniparental disomies of the orthologous chromosome 14 region in humans. Thus, imprinted genes on chromosome 12 are essential for viability, the regulation of prenatal growth, and the development of mesodermal and neural crest-derived lineages.en
dc.sourceDevelopmenten
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0033694804&partnerID=40&md5=43e280bcfb18fbc351b182370b33a53f
dc.subjectarticleen
dc.subjectcontrolled studyen
dc.subjectfemaleen
dc.subjectpriority journalen
dc.subjectBone and Bonesen
dc.subjectsurvivalen
dc.subjectPlacentaen
dc.subjectPregnancyen
dc.subjectgrowth retardationen
dc.subjectmaleen
dc.subjectnonhumanen
dc.subjectgestational ageen
dc.subjectAnimalsen
dc.subjectMiceen
dc.subjectanimal cellen
dc.subjectanimal experimenten
dc.subjectanimal modelen
dc.subjectanimal tissueen
dc.subjectmouseen
dc.subjectskeletal muscleen
dc.subjectgenetic analysisen
dc.subjectheredityen
dc.subjectdevelopmental disorderen
dc.subjectplacenta disorderen
dc.subjectGenotypeen
dc.subjectAbnormalitiesen
dc.subjectAnimaliaen
dc.subjectembryoen
dc.subjectembryo developmenten
dc.subjectMuscle, Skeletalen
dc.subjectVertebrataen
dc.subjectmesodermen
dc.subjectprenatal developmenten
dc.subjectcell lineageen
dc.subjectChromosome Mappingen
dc.subjectgenome imprintingen
dc.subjectGenomic Imprintingen
dc.subjectEmbryonic and Fetal Developmenten
dc.subjectmuscle developmenten
dc.subjectAneuploidyen
dc.subjectUniparental disomyen
dc.subjectauditory ossicleen
dc.subjectbone malformationen
dc.subjectChromosome 12en
dc.subjectchromosome 14en
dc.subjectconceptionen
dc.subjectCrosses, Geneticen
dc.subjectembryo deathen
dc.subjectFetal growthen
dc.subjectImprintingen
dc.subjectMouse developmenten
dc.subjectneural cresten
dc.subjectperinatal deathen
dc.subjectrib cartilageen
dc.subjectrib malformationen
dc.subjectRodentiaen
dc.titleParental origin-specific developmental defects in mice with uniparental disomy for chromosome 12en
dc.typeinfo:eu-repo/semantics/article
dc.description.volume127
dc.description.startingpage4719
dc.description.endingpage4728
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :133</p>en
dc.source.abbreviationDevelopment (Cambridge)en
dc.contributor.orcidGeorgiades, Pantelis [0000-0002-5538-3163]
dc.gnosis.orcid0000-0002-5538-3163


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