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Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

2018-10Journal article Restricted access
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dc.contributor.authorAlves, Ana Catarina
dc.contributor.authorBenito-Vicente, Asier
dc.contributor.authorMedeiros, Ana Margarida
dc.contributor.authorReeves, Kaajal
dc.contributor.authorMartin, Cesar
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2018-10-18T10:47:48Z
dc.date.available2018-10-18T10:47:48Z
dc.date.issued2018-10
dc.description.abstractAPOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH.pt_PT
dc.description.abstractHighlights: The spectrum of functional alterations in APOB outside the fragments routinely screened is growing; We characterized two rare novel variants in APOB, p.(Thr3826Met) is pathogenic and p.(Pro994Leu) is neutral; The study of all 29 exons of APOB should be performed in routine diagnosis, now possible by NGS, since it is expected that a further 5–10% of clinical FH patients can have FH due to a novel APOB mutation; Due to low penetrance of APOB variants and high rate of common variants inAPOB, all novel variants need to be functionally characterized to prove their pathogenicity.pt_PT
dc.description.sponsorshipFunding was obtained from the Portuguese Science and Technology Foundation [PTDC/SAU-GMG/101874/2008], the Spanish Ministry of Economy and Competitiveness (grant N BFU 2012-36241), and the Basque Government (Grupos Consolidados IT849- 13). ABV was supported by a grant PIF (2014e2015) Gobierno Vasco.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAtherosclerosis. 2018 Oct;277:448-456. doi: 10.1016/j.atherosclerosis.2018.06.819.pt_PT
dc.identifier.doi10.1016/j.atherosclerosis.2018.06.819pt_PT
dc.identifier.issn0021-9150
dc.identifier.urihttp://hdl.handle.net/10400.18/5622
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationNovel genes causing Familial Hypercholesterolaemia
dc.relation.publisherversionhttps://doi.org/10.1016/j.atherosclerosis.2018.06.819pt_PT
dc.subjectAPOB Variantspt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectFunctional Studiespt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFurther evidence of novel APOB mutations as a cause of familial hypercholesterolaemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleNovel genes causing Familial Hypercholesterolaemia
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT
oaire.citation.endPage456pt_PT
oaire.citation.startPage448pt_PT
oaire.citation.titleAtherosclerosispt_PT
oaire.citation.volume277pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationf2cced4d-dbf7-43c7-98a7-a370b6dbb952
relation.isProjectOfPublication.latestForDiscoveryf2cced4d-dbf7-43c7-98a7-a370b6dbb952

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