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Altered cogs of the clock: Insights into the embryonic etiology of spondylocostal dysostosis

2021-01-29Journal article Open access
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dc.contributor.authorNóbrega, Mónica
dc.contributor.authorMaia-Fernandes, Ana C
dc.contributor.authorAndrade, Raquel P.
dc.date.accessioned2021-04-16T12:37:43Z
dc.date.available2021-04-16T12:37:43Z
dc.date.issued2021-01-29
dc.date.updated2021-03-26T14:06:11Z
dc.description.abstractSpondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches.pt_PT
dc.description.sponsorshipPTDC/BEX-BID/5410/2014, SFRH/BD/146043/2019, UID/BIM/04773/2019
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJournal of Developmental Biology 9 (1): 5 (2021)pt_PT
dc.identifier.doidoi: 10.3390/jdb9010005
dc.identifier.issn2221-3759
dc.identifier.urihttp://hdl.handle.net/10400.1/15395
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectSpondylocostal dysostosispt_PT
dc.subjectSomitogenesis clockpt_PT
dc.subjectSomite formationpt_PT
dc.subjectHES7pt_PT
dc.subjectLFNGpt_PT
dc.subjectMESP2pt_PT
dc.subjectTBX6pt_PT
dc.subjectRIPPLY2pt_PT
dc.titleAltered cogs of the clock: Insights into the embryonic etiology of spondylocostal dysostosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage5
oaire.citation.titleJournal of Developmental Biologypt_PT
oaire.citation.volume9
person.familyNameBettencourt de Nóbrega
person.familyNameMaia-Fernandes
person.familyNameAndrade
person.givenNameMónica Fabiana
person.givenNameAna C
person.givenNameRaquel
person.identifier.ciencia-idE91E-B388-3230
person.identifier.ciencia-id2312-360B-227A
person.identifier.orcid0000-0002-5086-2632
person.identifier.orcid0000-0002-0397-5917
person.identifier.scopus-author-id7103114918
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication0cfc9fa4-ef75-415f-8fa2-cfcaafbd8130
relation.isAuthorOfPublication3aa188b9-f18f-41da-9dd0-16ea21aea80c
relation.isAuthorOfPublicationf2d3fc39-a8f6-4d83-9e60-2e2fdfbc2b4a
relation.isAuthorOfPublication.latestForDiscovery0cfc9fa4-ef75-415f-8fa2-cfcaafbd8130

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