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Page 1
Down syndrome: searching for the genetic culprits.
Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. Lana-Elola E, et al. Among authors: watson scales sd. Dis Model Mech. 2011 Sep;4(5):586-95. doi: 10.1242/dmm.008078. Dis Model Mech. 2011. PMID: 21878459 Free PMC article. Review.
Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.
Lana-Elola E, Aoidi R, Llorian M, Gibbins D, Buechsenschuetz C, Bussi C, Flynn H, Gilmore T, Watson-Scales S, Haugsten Hansen M, Hayward D, Song OR, Brault V, Herault Y, Deau E, Meijer L, Snijders AP, Gutierrez MG, Fisher EMC, Tybulewicz VLJ. Lana-Elola E, et al. Among authors: watson scales s. Sci Transl Med. 2024 Jan 24;16(731):eadd6883. doi: 10.1126/scitranslmed.add6883. Epub 2024 Jan 24. Sci Transl Med. 2024. PMID: 38266108 Free PMC article.
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: watson scales s. Nat Commun. 2019 Jun 6;10(1):2489. doi: 10.1038/s41467-019-10129-9. Nat Commun. 2019. PMID: 31171815 Free PMC article.
Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes.
Lana-Elola E, Cater H, Watson-Scales S, Greenaway S, Müller-Winkler J, Gibbins D, Nemes M, Slender A, Hough T, Keskivali-Bond P, Scudamore CL, Herbert E, Banks GT, Mobbs H, Canonica T, Tosh J, Noy S, Llorian M, Nolan PM, Griffin JL, Good M, Simon M, Mallon AM, Wells S, Fisher EMC, Tybulewicz VLJ. Lana-Elola E, et al. Among authors: watson scales s. Dis Model Mech. 2021 Oct 1;14(10):dmm049157. doi: 10.1242/dmm.049157. Epub 2021 Oct 15. Dis Model Mech. 2021. PMID: 34477842 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. 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.
12 results