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341 results

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Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome.
Voronov SV, Frere SG, Giovedi S, Pollina EA, Borel C, Zhang H, Schmidt C, Akeson EC, Wenk MR, Cimasoni L, Arancio O, Davisson MT, Antonarakis SE, Gardiner K, De Camilli P, Di Paolo G. Voronov SV, et al. Among authors: borel c. Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9415-20. doi: 10.1073/pnas.0803756105. Epub 2008 Jun 30. Proc Natl Acad Sci U S A. 2008. PMID: 18591654 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. Among authors: borel c. 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.
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.
Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y. Brault V, et al. Among authors: borel c. PLoS Genet. 2015 Mar 24;11(3):e1005062. doi: 10.1371/journal.pgen.1005062. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25803843 Free PMC article.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE. Letourneau A, et al. Among authors: borel c. Nature. 2014 Apr 17;508(7496):345-50. doi: 10.1038/nature13200. Nature. 2014. PMID: 24740065
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes.
De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G. De Cegli R, et al. Among authors: borel c. Genome Biol. 2010;11(6):R64. doi: 10.1186/gb-2010-11-6-r64. Epub 2010 Jun 22. Genome Biol. 2010. PMID: 20569505 Free PMC article.
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes.
Sethupathy P, Borel C, Gagnebin M, Grant GR, Deutsch S, Elton TS, Hatzigeorgiou AG, Antonarakis SE. Sethupathy P, et al. Among authors: borel c. Am J Hum Genet. 2007 Aug;81(2):405-13. doi: 10.1086/519979. Epub 2007 Jul 12. Am J Hum Genet. 2007. PMID: 17668390 Free PMC article.
341 results