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Page 1
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K, Noy S, Sheppard O, Collins T, Powell C, Sarell CJ, Rickman M, Choong X, Tosh JL, Siganporia C, Whittaker HT, Stewart F, Szaruga M; London Down syndrome consortium; Murphy MP, Blennow K, de Strooper B, Zetterberg H, Bannerman D, Holtzman DM, Tybulewicz VLJ, Fisher EMC; LonDownS Consortium. Wiseman FK, et al. Among authors: fisher emc. Brain. 2018 Aug 1;141(8):2457-2474. doi: 10.1093/brain/awy159. Brain. 2018. PMID: 29945247 Free PMC article.
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.
O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S, Vanes L, Hernandez D, Linehan JM, Sharpe PT, Brandner S, Bliss TV, Henderson DJ, Nizetic D, Tybulewicz VL, Fisher EM. O'Doherty A, et al. Science. 2005 Sep 23;309(5743):2033-7. doi: 10.1126/science.1114535. Science. 2005. PMID: 16179473 Free PMC article.
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, Shipley J, Denyer G, Epstein CJ, Fillat C, Estivill X, Tybulewicz VL, Fisher EM, Antonarakis SE, Nizetic D. Canzonetta C, et al. Am J Hum Genet. 2008 Sep;83(3):388-400. doi: 10.1016/j.ajhg.2008.08.012. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771760 Free PMC article.
Species-specific transcription in mice carrying human chromosome 21.
Wilson MD, Barbosa-Morais NL, Schmidt D, Conboy CM, Vanes L, Tybulewicz VL, Fisher EM, Tavaré S, Odom DT. Wilson MD, et al. Science. 2008 Oct 17;322(5900):434-8. doi: 10.1126/science.1160930. Epub 2008 Sep 11. Science. 2008. PMID: 18787134 Free PMC article.
228 results