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Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review

2022Journal article Open access
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dc.contributor.authorCouto, Ana Rita
dc.contributor.authorParreira, Bruna
dc.contributor.authorPower, Deborah
dc.contributor.authorPinheiro, Luís
dc.contributor.authorMadruga Dias, João
dc.contributor.authorNovofastovski, Irina
dc.contributor.authorEshed, Iris
dc.contributor.authorSarzi-Puttini, Piercarlo
dc.contributor.authorPappone, Nicola
dc.contributor.authorAtzeni, Fabiola
dc.contributor.authorVerlaan, Jorrit-Jan
dc.contributor.authorKuperus, Jonneke
dc.contributor.authorBieber, Amir
dc.contributor.authorAmbrosino, Pasquale
dc.contributor.authorKiefer, David
dc.contributor.authorKhan, Muhammad Asim
dc.contributor.authorMader, Reuven
dc.contributor.authorBaraliakos, Xenofon
dc.contributor.authorBruges-Armas, Jácome
dc.date.accessioned2023-01-24T10:46:33Z
dc.date.available2023-01-24T10:46:33Z
dc.date.issued2022
dc.description.abstractDiffuse Idiopathic Skeletal Hyperostosis (DISH) and Ossification of the Posterior Longitudinal Ligament (OPLL) are common disorders characterized by the ossification of spinal ligaments. The cause for this ossification is currently unknown but a genetic contribution has been hypothesized. Over the last decade, many studies on the genetics of ectopic calcification disorders have been performed, mainly on OPLL. Most of these studies were based on linkage analysis and case control association studies. Animal models have provided some clues but so far, the involvement of the identified genes has not been confirmed in human cases. In the last few years, many common variants in several genes have been associated with OPLL. However, these associations have not been at definitive levels of significance and evidence of functional significance is generally modest. The current evidence suggests a multifactorial aetiopathogenesis for DISH and OPLL with a subset of cases showing a stronger genetic component.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.3389/fgene.2022.987867pt_PT
dc.identifier.eissn1664-8021
dc.identifier.urihttp://hdl.handle.net/10400.1/18904
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherFrontiers Mediapt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectOssificationpt_PT
dc.subjectGeneticspt_PT
dc.subjectEctopic calcificationpt_PT
dc.subjectDiffuse idiopathic skeletal hyperostosispt_PT
dc.titleEvidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative reviewpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleFrontiers in Geneticspt_PT
oaire.citation.volume13pt_PT
person.familyNamePower
person.givenNameDeborah Mary
person.identifier.ciencia-id891A-8A44-3CAE
person.identifier.orcid0000-0003-1366-0246
person.identifier.scopus-author-id7101806760
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationc68f5ffb-63f6-4c70-8957-29e464fb59c0
relation.isAuthorOfPublication.latestForDiscoveryc68f5ffb-63f6-4c70-8957-29e464fb59c0

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