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1,276 results

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Page 1
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). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false di …
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with …
Single-cell brain organoid screening identifies developmental defects in autism.
Li C, Fleck JS, Martins-Costa C, Burkard TR, Themann J, Stuempflen M, Peer AM, Vertesy Á, Littleboy JB, Esk C, Elling U, Kasprian G, Corsini NS, Treutlein B, Knoblich JA. Li C, et al. Nature. 2023 Sep;621(7978):373-380. doi: 10.1038/s41586-023-06473-y. Epub 2023 Sep 13. Nature. 2023. PMID: 37704762 Free PMC article.
Here we show that perturbation of 36 high-risk autism spectrum disorder genes related to transcriptional regulation uncovers their effects on cell fate determination. ...Specifically, mutating the BAF subunit ARID1B affects the fate transition of progenitors to olig …
Here we show that perturbation of 36 high-risk autism spectrum disorder genes related to transcriptional regulation uncovers t …
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 …
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 …
Stem Cell-Based Organoid Models of Neurodevelopmental Disorders.
Wang L, Owusu-Hammond C, Sievert D, Gleeson JG. Wang L, et al. Biol Psychiatry. 2023 Apr 1;93(7):622-631. doi: 10.1016/j.biopsych.2023.01.012. Epub 2023 Jan 24. Biol Psychiatry. 2023. PMID: 36759260 Free PMC article. Review.
These discoveries provide opportunities to understand cellular and molecular mechanisms as well as potential gene-gene and gene-environment interactions to support novel therapies. Stem cell-based models, particularly human brain organoids, can capture disease-associated a …
These discoveries provide opportunities to understand cellular and molecular mechanisms as well as potential gene-gene and gene-environment …
Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP. Chen X, et al. Nature. 2024 Apr;628(8009):818-825. doi: 10.1038/s41586-024-07310-6. Epub 2024 Apr 24. Nature. 2024. PMID: 38658687 Free PMC article.
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions(1). ...Broadly, these experiments illustrate how a multilevel, in vivo and in vitro stem cell model-based approac …
Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsy …
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 …
Maturation and circuit integration of transplanted human cortical organoids.
Revah O, Gore F, Kelley KW, Andersen J, Sakai N, Chen X, Li MY, Birey F, Yang X, Saw NL, Baker SW, Amin ND, Kulkarni S, Mudipalli R, Cui B, Nishino S, Grant GA, Knowles JK, Shamloo M, Huguenard JR, Deisseroth K, Pașca SP. Revah O, et al. Nature. 2022 Oct;610(7931):319-326. doi: 10.1038/s41586-022-05277-w. Epub 2022 Oct 12. Nature. 2022. PMID: 36224417 Free PMC article.
MRI reveals post-transplantation organoid growth across multiple stem cell lines and animals, whereas single-nucleus profiling shows progression of corticogenesis and the emergence of activity-dependent transcriptional programs. ...We anticipate that this approach will be …
MRI reveals post-transplantation organoid growth across multiple stem cell lines and animals, whereas single-nucleus profiling shows …
Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.
Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D. Fiddes IT, et al. Cell. 2018 May 31;173(6):1356-1369.e22. doi: 10.1016/j.cell.2018.03.051. Epub 2018 May 31. Cell. 2018. PMID: 29856954 Free PMC article.
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of neuronal number in the mammalian cortex. ...Furthermore, NOTCH2NL genes provide the breakpoints in 1q21.1 distal deletion/duplication syndrome, where duplications are associated wi …
Notch signaling is essential for radial glia stem cell proliferation and is a determinant of neuronal number in the mammalian cortex. …
Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies.
Nestor MW, Phillips AW, Artimovich E, Nestor JE, Hussman JP, Blatt GJ. Nestor MW, et al. Autism Res. 2016 May;9(5):513-35. doi: 10.1002/aur.1570. Epub 2015 Oct 1. Autism Res. 2016. PMID: 26426199 Review.
Autism Spectrum Disorder (ASD) is a behaviorally defined neurodevelopmental condition. ...This is in part due to lack of appropriate models for complete molecular and pharmacological studies. The advent of induced pluripotent stem cells (iPSC) has rein …
Autism Spectrum Disorder (ASD) is a behaviorally defined neurodevelopmental condition. ...This is in part due to lack of appro …
1,276 results