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Gene expression dysregulation domains are not a specific feature of Down syndrome.
Ahlfors H, Anyanwu N, Pakanavicius E, Dinischiotu N, Lana-Elola E, Watson-Scales S, Tosh J, Wiseman F, Briscoe J, Page K, Fisher EMC, Tybulewicz VLJ. Ahlfors H, et al. Among authors: wiseman f. Nat Commun. 2019 Jun 6;10(1):2489. doi: 10.1038/s41467-019-10129-9. Nat Commun. 2019. PMID: 31171815 Free PMC article.
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.
Watson-Scales S, Kalmar B, Lana-Elola E, Gibbins D, La Russa F, Wiseman F, Williamson M, Saccon R, Slender A, Olerinyova A, Mahmood R, Nye E, Cater H, Wells S, Yu YE, Bennett DLH, Greensmith L, Fisher EMC, Tybulewicz VLJ. Watson-Scales S, et al. Among authors: wiseman f. PLoS Genet. 2018 May 10;14(5):e1007383. doi: 10.1371/journal.pgen.1007383. eCollection 2018 May. PLoS Genet. 2018. PMID: 29746474 Free PMC article.
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D, Brunmeir R, Yeap YJ, O'Brien NL, Groet J, Shao X, Havlicek S, Dunn NR, Kvartsberg H, Brinkmalm G, Hithersay R, Startin C, Hamburg S, Phillips M, Pervushin K, Turmaine M, Wallon D, Rovelet-Lecrux A, Soininen H, Volpi E, Martin JE, Foo JN, Becker DL, Rostagno A, Ghiso J, Krsnik Ž, Šimić G, Kostović I, Mitrečić D; LonDownS Consortium; Francis PT, Blennow K, Strydom A, Hardy J, Zetterberg H, Nižetić D. Alić I, et al. Mol Psychiatry. 2021 Oct;26(10):5766-5788. doi: 10.1038/s41380-020-0806-5. Epub 2020 Jul 10. Mol Psychiatry. 2021. PMID: 32647257 Free PMC article.
57 results