Publication
Exploratory analysis of mutations targeting noncoding RNAs in autism
| dc.contributor.author | Marques, Ana Rita | |
| dc.contributor.author | Martiniano, Hugo | |
| dc.contributor.author | Asif, Muhammad | |
| dc.contributor.author | Santos, João Pedro | |
| dc.contributor.author | M. Vicente, Astrid | |
| dc.date.accessioned | 2017-07-06T10:28:37Z | |
| dc.date.available | 2017-07-06T10:28:37Z | |
| dc.date.issued | 2017-05-08 | |
| dc.description.abstract | Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors. Heritability estimates indicate that genetic factors account for ~50% risk of ASD, sugesting a role of epigenetic factors, such as long noncoding RNA (lncRNA) and microRNA (miRNA), as modulators of genetic expression and clinical presentation. Our goal is to identify variants in lncRNA and miRNA loci that disrupt the function of target genes and modulating the high genotypic and phenotypic heterogeneity characteristic of ASD. | pt_PT |
| dc.description.sponsorship | Support for this work was provided by Fundação para a Ciência e a Tecnologia (grant PD/BD/113773/2015 to A.R.Marques). | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/4742 | |
| dc.language.iso | eng | pt_PT |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | pt_PT |
| dc.subject | Autism Spectrum Disorder | pt_PT |
| dc.subject | Autism Genome Project | pt_PT |
| dc.subject | Perturbações do Desenvolvimento Infantil e Saúde Mental | pt_PT |
| dc.subject | Autismo | pt_PT |
| dc.title | Exploratory analysis of mutations targeting noncoding RNAs in autism | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | 2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, INSA, 8 maio 2017 | pt_PT |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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