作者
Ana Rita Marques, Hugo Martiniano, Muhammad Asif, João Pedro Santos, Astrid M Vicente
发表日期
2017/5/8
期刊
2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, INSA, 8 maio 2017
出版商
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
简介
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.
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AR Marques, H Martiniano, M Asif, JP Santos… - 2º Dia do Jovem Investigador do Instituto Nacional de …, 2017