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• W2138002108 abstract "Abstract Background Austism spectrum disorder (ASD) is a heterogeneous behavioral disorder or condition characterized by severe impairment of social engagement and the presence of repetitive activities. The molecular etiology of ASD is still largely unknown despite a strong genetic component. Part of the difficulty in turning genetics into disease mechanisms and potentially new therapeutics is the sheer number and diversity of the genes that have been associated with ASD and ASD symptoms. The goal of this work is to use shRNA-generated models of genetic defects proposed as causative for ASD to identify the common pathways that might explain how they produce a core clinical disability. Methods Transcript levels of Mecp2 , Mef2a , Mef2d , Fmr1 , Nlgn1 , Nlgn3 , Pten , and Shank3 were knocked-down in mouse primary neuron cultures using shRNA constructs. Whole genome expression analysis was conducted for each of the knockdown cultures as well as a mock-transduced culture and a culture exposed to a lentivirus expressing an anti-luciferase shRNA. Gene set enrichment and a causal reasoning engine was employed to identify pathway level perturbations generated by the transcript knockdown. Results Quantification of the shRNA targets confirmed the successful knockdown at the transcript and protein levels of at least 75% for each of the genes. After subtracting out potential artifacts caused by viral infection, gene set enrichment and causal reasoning engine analysis showed that a significant number of gene expression changes mapped to pathways associated with neurogenesis, long-term potentiation, and synaptic activity. Conclusions This work demonstrates that despite the complex genetic nature of ASD, there are common molecular mechanisms that connect many of the best established autism candidate genes. By identifying the key regulatory checkpoints in the interlinking transcriptional networks underlying autism, we are better able to discover the ideal points of intervention that provide the broadest efficacy across the diverse population of autism patients." @default.
• W2138002108 created "2016-06-24" @default.
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• W2138002108 date "2013-11-15" @default.
• W2138002108 modified "2023-10-13" @default.
• W2138002108 title "Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action" @default.
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• W2138002108 cites W1973880590 @default.
• W2138002108 cites W1982646704 @default.
• W2138002108 cites W1983194657 @default.
• W2138002108 cites W1985114015 @default.
• W2138002108 cites W1985189974 @default.
• W2138002108 cites W1996222881 @default.
• W2138002108 cites W1996820190 @default.
• W2138002108 cites W1998532096 @default.
• W2138002108 cites W1998944144 @default.
• W2138002108 cites W2004091189 @default.
• W2138002108 cites W2005149292 @default.
• W2138002108 cites W2010457001 @default.
• W2138002108 cites W2010866820 @default.
• W2138002108 cites W2011389660 @default.
• W2138002108 cites W2019690396 @default.
• W2138002108 cites W2024663595 @default.
• W2138002108 cites W2031863862 @default.
• W2138002108 cites W2032782148 @default.
• W2138002108 cites W2035074539 @default.
• W2138002108 cites W2035090622 @default.
• W2138002108 cites W2038599400 @default.
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• W2138002108 cites W2065894981 @default.
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• W2138002108 cites W2093108299 @default.
• W2138002108 cites W2093191343 @default.
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• W2138002108 doi "https://doi.org/10.1186/2040-2392-4-45" @default.
• W2138002108 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4176301" @default.
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