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Auteur James ELLIS |
Documents disponibles écrits par cet auteur (1)
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Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells / P. Joel ROSS in Molecular Autism, 11 (2020)
[article]
Titre : Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells Type de document : Texte imprimé et/ou numérique Auteurs : P. Joel ROSS, Auteur ; Rebecca S. F. MOK, Auteur ; Brandon S. SMITH, Auteur ; Deivid C. RODRIGUES, Auteur ; Marat MUFTEEV, Auteur ; Stephen SCHERER, Auteur ; James ELLIS, Auteur Article en page(s) : 33 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to directly test the effects of genomic variation on neuronal gene expression, synapse function, and connectivity. The combined use of human pluripotent stem cells with genome editing to introduce or correct specific variants has proved to be a powerful approach for exploring the functional consequences of ASD-associated variants in protein-coding genes and, more recently, long non-coding RNAs (lncRNAs). Here, we review recent studies that implicate lncRNAs, other non-coding mutations, and regulatory variants in ASD susceptibility. We also discuss experimental design considerations for using iPSCs and genome editing to study the role of the non-protein-coding genome in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00333-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 33 p.[article] Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells [Texte imprimé et/ou numérique] / P. Joel ROSS, Auteur ; Rebecca S. F. MOK, Auteur ; Brandon S. SMITH, Auteur ; Deivid C. RODRIGUES, Auteur ; Marat MUFTEEV, Auteur ; Stephen SCHERER, Auteur ; James ELLIS, Auteur . - 33 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 33 p.
Index. décimale : PER Périodiques Résumé : Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to directly test the effects of genomic variation on neuronal gene expression, synapse function, and connectivity. The combined use of human pluripotent stem cells with genome editing to introduce or correct specific variants has proved to be a powerful approach for exploring the functional consequences of ASD-associated variants in protein-coding genes and, more recently, long non-coding RNAs (lncRNAs). Here, we review recent studies that implicate lncRNAs, other non-coding mutations, and regulatory variants in ASD susceptibility. We also discuss experimental design considerations for using iPSCs and genome editing to study the role of the non-protein-coding genome in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00333-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427