De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
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Título: | De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
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Autor/a: | Alonso González, Aitana
Rodríguez Fontenla, María Cristina
Carracedo Álvarez, Ángel María
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Centro/Departamento: | Universidade de Santiago de Compostela. Centro de Investigación en Química Biolóxica e Materiais Moleculares Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría
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Palabras chave: | Autism Spectrum Disorder | Genetics | Post-zygotic mutations | Neurodevelopmental disorders | de novo mutations | Gene networks | Pathway analysis | Whole exome sequencing | |
Data: | 2018-09-21
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Editor: | Frontiers Media
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Cita bibliográfica: | Alonso-Gonzalez A, Rodriguez-Fontenla C and Carracedo A (2018) De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. Front. Genet. 9:406. doi: 10.3389/fgene.2018.00406
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Resumo: | Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, de novo mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (post-zygotic mutations), and we outline the main bioinformatics tools commonly employed to study these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be provided |
Versión do editor: | https://doi.org/10.3389/fgene.2018.00406 |
URI: | http://hdl.handle.net/10347/17641
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DOI: | 10.3389/fgene.2018.00406 |
E-ISSN: | 1664-8021
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Dereitos: | © 2018 Alonso-Gonzalez, Rodriguez-Fontenla and Carracedo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms Atribución 4.0 Internacional
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