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Functional study of OPTN promoter: new OPTN regulators and effect of genetic variants

2016-04Journal article Restricted access
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dc.contributor.authorSilva, I. A. L.
dc.contributor.authorMichou, L.
dc.contributor.authorCancela, M. Leonor
dc.contributor.authorConceição, Natércia
dc.date.accessioned2017-04-07T15:56:49Z
dc.date.available2017-04-07T15:56:49Z
dc.date.issued2016-04
dc.description.abstractBackground: Optineurin (OPTN) is a gene located in chromosome 10 that has been associated with several pathologies, including Paget’s disease of bone (PDB). Using DNA samples from our cohort of PDB patients we have found two SNPs in OPTN promoter (rs3829923 and RV -9906) that could alter OPTN expression. However little is known about the role of this gene in bone and how this gene is regulated.
dc.identifier.issn0014-2972
dc.identifier.urihttp://hdl.handle.net/10400.1/9534
dc.language.isoeng
dc.peerreviewedyes
dc.relation.isbasedonWOS:000375378000302
dc.titleFunctional study of OPTN promoter: new OPTN regulators and effect of genetic variants
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage124
oaire.citation.startPage124
oaire.citation.titleEuropean Journal of Clinical Investigation
oaire.citation.volume46
person.familyNameCancela
person.familyNameConceição
person.givenNameM. Leonor
person.givenNameNatércia
person.identifier.ciencia-id7C11-760D-F425
person.identifier.orcid0000-0003-3114-6662
person.identifier.orcid0000-0002-5057-0912
rcaap.rightsopenAccess
rcaap.typearticle
relation.isAuthorOfPublicationb9bbfe32-3dfe-4131-ad14-a4394008447f
relation.isAuthorOfPublication62064ac0-1f34-407d-96b7-b7074325a84e
relation.isAuthorOfPublication.latestForDiscovery62064ac0-1f34-407d-96b7-b7074325a84e

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