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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. Among authors: de vita s. 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.
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J. De Vita S, et al. Br J Haematol. 2007 May;137(4):337-41. doi: 10.1111/j.1365-2141.2007.06574.x. Br J Haematol. 2007. PMID: 17456055 Free article.
450 results