Mouse model of congenital heart defects, dysmorphic facial features and intellectual developmental disorders as a result of nonfunctional CDK13

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dc.contributor.authorNováková, Monikacs
dc.contributor.authorHampl, Marekcs
dc.contributor.authorVrábel, Davidcs
dc.contributor.authorProcházka, Jancs
dc.contributor.authorPetrezselyova, Silviacs
dc.contributor.authorProcházková, Michaelacs
dc.contributor.authorSedláček, Radislavcs
dc.contributor.authorKavková, Michaelacs
dc.contributor.authorZikmund, Tomášcs
dc.contributor.authorKaiser, Jozefcs
dc.contributor.authorJuan, Hsien-Chiacs
dc.contributor.authorFann, Ming-Jics
dc.contributor.authorBuchtová, Marcelacs
dc.contributor.authorKohoutek, Jiřícs
dc.coverage.issue155cs
dc.coverage.volume7cs
dc.date.accessioned2020-08-04T11:03:34Z
dc.date.available2020-08-04T11:03:34Z
dc.date.issued2019-07-23cs
dc.description.abstractCongenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFFID) syndrome in humans was recently associated with mutation in CDK13 gene. In order to assess the loss of function of Cdk13 during mouse development, we employed gene trap knock-out allele in Cdk13 gene. Embryonic lethality of Cdk13-deficient animals was observed by the embryonic day 16.5, live embryos were observed on E15.5. At this stage, improper development of multiple organs has been documented, partly resembling defects observed in patients with mutated CDK13. In particular, slower brain development, incomplete palate formation, kidney failure accompanied by congenital heart defects were detected. Based on further analyses, the lethality at this stage is a result of heart failure most likely due to multiple heart defects followed by insufficient blood circulation resulting in multiple organs dysfunctions. Thus, Cdk13 knock-out mice might be a very useful model for further studies focused on delineating signaling circuits and molecular mechanisms underlying CHDFFID caused by mutation in CDK13 gene.en
dc.formattextcs
dc.format.extent1-19cs
dc.format.mimetypeapplication/pdfcs
dc.identifier.citationFrontiers in Cell and Developmental Biology. 2019, vol. 7, issue 155, p. 1-19.en
dc.identifier.doi10.3389/fcell.2019.00155cs
dc.identifier.issn2296-634Xcs
dc.identifier.other157858cs
dc.identifier.urihttp://hdl.handle.net/11012/193257
dc.language.isoencs
dc.publisherFrontiers Media SAcs
dc.relation.ispartofFrontiers in Cell and Developmental Biologycs
dc.relation.urihttps://www.frontiersin.org/articles/10.3389/fcell.2019.00155/fullcs
dc.rightsCreative Commons Attribution 4.0 Internationalcs
dc.rights.accessopenAccesscs
dc.rights.sherpahttp://www.sherpa.ac.uk/romeo/issn/2296-634X/cs
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/cs
dc.subjectcyclin-denpendent kinaseen
dc.subjectTranscription Regulationen
dc.subjectdevelopmenten
dc.subjectcyclin-dependent kinase 13en
dc.subjectCyclin Ken
dc.titleMouse model of congenital heart defects, dysmorphic facial features and intellectual developmental disorders as a result of nonfunctional CDK13en
dc.type.driverarticleen
dc.type.statusPeer-revieweden
dc.type.versionpublishedVersionen
sync.item.dbidVAV-157858en
sync.item.dbtypeVAVen
sync.item.insts2020.08.04 13:03:34en
sync.item.modts2020.08.04 12:27:59en
thesis.grantorVysoké učení technické v Brně. Středoevropský technologický institut VUT. Charakterizace materiálů a pokročilé povlaky 1-06cs
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