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Expression Profile of Circulating miRNAs in Autism Spectrum Disorders

2015-06Conference object Restricted access
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dc.contributor.authorRodrigues, A.C.
dc.contributor.authorConceição, I.C.
dc.contributor.authorKwiatkowska, K.
dc.contributor.authorPicanço, I.
dc.contributor.authorCafé, C.
dc.contributor.authorAlmeida, J.
dc.contributor.authorMouga, S.
dc.contributor.authorEnguita, F.J.
dc.contributor.authorOliveira, G.
dc.contributor.authorVicente, A.M.
dc.date.accessioned2016-02-25T15:26:52Z
dc.date.available2016-02-25T15:26:52Z
dc.date.issued2015-06
dc.description.abstractAutism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have not yet been identified. Epigenetic factors may additionally modulate the effect of genetic variants. ASD overlaps with other Neurodevelopmental Disorders (NDD), both in clinical aspects and in causative genetic variants, frequently rendering specific diagnosis difficult1,5. Here we hypothesize that, while genetic variants overlap in a large extent between NDDs, epigenetic factors may regulate the expression, activity or function of genetic factors, leading to the characteristic phenotypic presentation that differentiates ASD from other NDDs. To test this hypothesis, we addressed the role of epigenetic factors in ASD, focusing on microRNAs (miRNAs). These small noncoding RNA molecules negatively regulate gene expression, influencing many biological processes and, because they are released from pathological tissues to plasma in disease situations, may constitute useful biomarkers. We thus profiled miRNAs in plasma from ASD patients and patients with other NDDs.pt_PT
dc.description.sponsorshipProjeto Autism Spectrum Disorder in the European Union - ASDEU financiado pela DG-SANCO; FCTpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3502
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.subjectPerturbações do Desenvolvimento Infantil e Saúde Mentalpt_PT
dc.subjectAutismopt_PT
dc.subjectAutism Spectrum Disorderspt_PT
dc.titleExpression Profile of Circulating miRNAs in Autism Spectrum Disorderspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceGlasgow, Reino Unidopt_PT
oaire.citation.titleEuropean Human Genetics Conference, 6–9 June 2015pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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