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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
2002 2
2004 1
2005 1
2006 3
2007 5
2008 7
2009 10
2010 8
2011 30
2012 32
2013 52
2014 47
2015 82
2016 93
2017 93
2018 108
2019 122
2020 159
2021 138
2022 68
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935 results
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Page 1
In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes.
Jin X, Simmons SK, Guo A, Shetty AS, Ko M, Nguyen L, Jokhi V, Robinson E, Oyler P, Curry N, Deangeli G, Lodato S, Levin JZ, Regev A, Zhang F, Arlotta P. Jin X, et al. Science. 2020 Nov 27;370(6520):eaaz6063. doi: 10.1126/science.aaz6063. Science. 2020. PMID: 33243861 Free PMC article.
We applied a scalable genetic screening approach, in vivo Perturb-Seq, to functionally evaluate 35 autism spectrum disorder/neurodevelopmental delay (ASD/ND) de novo loss-of-function risk genes. Using CRISPR-Cas9, we introduced frameshift mutations in these risk gen …
We applied a scalable genetic screening approach, in vivo Perturb-Seq, to functionally evaluate 35 autism spectrum disorder/ne …
Brain Organoids and the Study of Neurodevelopment.
Trujillo CA, Muotri AR. Trujillo CA, et al. Trends Mol Med. 2018 Dec;24(12):982-990. doi: 10.1016/j.molmed.2018.09.005. Epub 2018 Oct 28. Trends Mol Med. 2018. PMID: 30377071 Free PMC article. Review.
Brain organoids are 3D self-assembled structures composed of hundreds of thousands to millions of cells that resemble the cellular organization and transcriptional and epigenetic signature of a developing human brain. Advancements using brain organoids have been made to el …
Brain organoids are 3D self-assembled structures composed of hundreds of thousands to millions of cells that resemble the cellular or …
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, Brand H, Schwartz G, Nguyen R, Guerrero EE, Dias C; Autism Sequencing Consortium; iPSYCH-Broad Consortium, Betancur C, Cook EH, Gallagher L, Gill M, Sutcliffe JS, Thurm A, Zwick ME, Børglum AD, State MW, Cicek AE, Talkowski ME, Cutler DJ, Devlin B, Sanders SJ, Roeder K, Daly MJ, Buxbaum JD. Satterstrom FK, et al. Cell. 2020 Feb 6;180(3):568-584.e23. doi: 10.1016/j.cell.2019.12.036. Epub 2020 Jan 23. Cell. 2020. PMID: 31981491 Free PMC article.
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). ...Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., …
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with …
Beneficial action of resveratrol: How and why?
Diaz-Gerevini GT, Repossi G, Dain A, Tarres MC, Das UN, Eynard AR. Diaz-Gerevini GT, et al. Nutrition. 2016 Feb;32(2):174-8. doi: 10.1016/j.nut.2015.08.017. Epub 2015 Sep 25. Nutrition. 2016. PMID: 26706021 Review.
Brain-derived neurotrophic factor (BDNF) that is involved in the pathogenesis of obesity, type 2 diabetes mellitus, and metabolic syndrome is also altered in depression, schizophrenia, bipolar disorder, and autism. We noted that BDNF protects against cytotoxic actio …
Brain-derived neurotrophic factor (BDNF) that is involved in the pathogenesis of obesity, type 2 diabetes mellitus, and metabolic syndrome i …
Assembly of functionally integrated human forebrain spheroids.
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP. Birey F, et al. Nature. 2017 May 4;545(7652):54-59. doi: 10.1038/nature22330. Epub 2017 Apr 26. Nature. 2017. PMID: 28445465 Free PMC article.
However, these interregional interactions have not yet been modelled with human cells. Here we generate three-dimensional spheroids from human pluripotent stem cells that resemble either the dorsal or ventral forebrain and contain cortical glutamatergic or GA …
However, these interregional interactions have not yet been modelled with human cells. Here we generate three-dimensional spheroids f …
SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.
Zaslavsky K, Zhang WB, McCready FP, Rodrigues DC, Deneault E, Loo C, Zhao M, Ross PJ, El Hajjar J, Romm A, Thompson T, Piekna A, Wei W, Wang Z, Khattak S, Mufteev M, Pasceri P, Scherer SW, Salter MW, Ellis J. Zaslavsky K, et al. Nat Neurosci. 2019 Apr;22(4):556-564. doi: 10.1038/s41593-019-0365-8. Epub 2019 Mar 25. Nat Neurosci. 2019. PMID: 30911184 Free PMC article.
Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived from neurotypic and ASD-affected donors. ...These findings were phenocopied …
Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum disorder (ASD). We generated cortical ne …
Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids.
Costamagna G, Comi GP, Corti S. Costamagna G, et al. Int J Mol Sci. 2021 Mar 6;22(5):2659. doi: 10.3390/ijms22052659. Int J Mol Sci. 2021. PMID: 33800815 Free PMC article. Review.
In the last decade, different research groups in the academic setting have developed induced pluripotent stem cell-based protocols to generate three-dimensional, multicellular, neural organoids. Their use to model brain biology, early neural development, and human diseases …
In the last decade, different research groups in the academic setting have developed induced pluripotent stem cell-based protocols to …
Allogeneic Human Umbilical Cord Mesenchymal Stem Cells for the Treatment of Autism Spectrum Disorder in Children: Safety Profile and Effect on Cytokine Levels.
Riordan NH, Hincapié ML, Morales I, Fernández G, Allen N, Leu C, Madrigal M, Paz Rodríguez J, Novarro N. Riordan NH, et al. Stem Cells Transl Med. 2019 Oct;8(10):1008-1016. doi: 10.1002/sctm.19-0010. Epub 2019 Jun 11. Stem Cells Transl Med. 2019. PMID: 31187597 Free PMC article. Retracted. Clinical Trial.
Individuals with autism spectrum disorder (ASD) suffer from developmental disabilities that impact communication, behavior, and social interaction. ...Although some signals of efficacy were observed in a small group of children, possible links between inflammation l …
Individuals with autism spectrum disorder (ASD) suffer from developmental disabilities that impact communication, behavior, an …
Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.
Marchetto MC, Belinson H, Tian Y, Freitas BC, Fu C, Vadodaria K, Beltrao-Braga P, Trujillo CA, Mendes APD, Padmanabhan K, Nunez Y, Ou J, Ghosh H, Wright R, Brennand K, Pierce K, Eichenfield L, Pramparo T, Eyler L, Barnes CC, Courchesne E, Geschwind DH, Gage FH, Wynshaw-Boris A, Muotri AR. Marchetto MC, et al. Mol Psychiatry. 2017 Jun;22(6):820-835. doi: 10.1038/mp.2016.95. Epub 2016 Jul 5. Mol Psychiatry. 2017. PMID: 27378147 Free PMC article.
Autism spectrum disorders (ASD) are common, complex and heterogeneous neurodevelopmental disorders. ...Here, we reprogrammed fibroblasts to generate induced pluripotent stem cells, neural progenitor cells (NPCs) and neurons from ASD individuals with ea …
Autism spectrum disorders (ASD) are common, complex and heterogeneous neurodevelopmental disorders. ...Here, we reprogrammed fibrobla …
The autism-associated protein CHD8 is required for cerebellar development and motor function.
Kawamura A, Katayama Y, Kakegawa W, Ino D, Nishiyama M, Yuzaki M, Nakayama KI. Kawamura A, et al. Cell Rep. 2021 Apr 6;35(1):108932. doi: 10.1016/j.celrep.2021.108932. Cell Rep. 2021. PMID: 33826902 Free article.
Mutations in the gene encoding the chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) are a highly penetrant risk factor for autism spectrum disorder (ASD). Although cerebellar abnormalities have long been thought to be related to ASD pathogenesi …
Mutations in the gene encoding the chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) are a highly penetrant risk factor …
935 results