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TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C; Undiagnosed Diseases Network; Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CA. Akula SK, et al. Among authors: bunton stasyshyn rk. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209964120. doi: 10.1073/pnas.2209964120. Epub 2023 Jan 20. Proc Natl Acad Sci U S A. 2023. PMID: 36669111 Free PMC article.
Screening and validation of genome-edited animals.
Bunton-Stasyshyn RK, Codner GF, Teboul L. Bunton-Stasyshyn RK, et al. Lab Anim. 2022 Feb;56(1):69-82. doi: 10.1177/00236772211016922. Epub 2021 Jul 1. Lab Anim. 2022. PMID: 34192966 Free PMC article.
Mendelian gene identification through mouse embryo viability screening.
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu CW, Van den Veyver IB, Flenniken AM, McKerlie C, Murray SA, Teboul L, Heaney JD, Lloyd KCK, Lanoue L, Braun RE, White JK, Creighton AK, Laurin V, Guo R, Qu D, Wells S, Cleak J, Bunton-Stasyshyn R, Stewart M, Harrisson J, Mason J, Haseli Mashhadi H, Parkinson H, Mallon AM; International Mouse Phenotyping Consortium; Genomics England Research Consortium; Smedley D. Cacheiro P, et al. Genome Med. 2022 Oct 13;14(1):119. doi: 10.1186/s13073-022-01118-7. Genome Med. 2022. PMID: 36229886 Free PMC article.
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. iScience. 2021 Nov 15;24(12):103463. doi: 10.1016/j.isci.2021.103463. eCollection 2021 Dec 17. iScience. 2021. PMID: 34988393 Free PMC article.
Is SOD1 loss of function involved in amyotrophic lateral sclerosis?
Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P. Saccon RA, et al. Among authors: bunton stasyshyn rk. Brain. 2013 Aug;136(Pt 8):2342-58. doi: 10.1093/brain/awt097. Epub 2013 May 17. Brain. 2013. PMID: 23687121 Free PMC article. Review.
Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.
Jones JM, Dionne L, Dell'Orco J, Parent R, Krueger JN, Cheng X, Dib-Hajj SD, Bunton-Stasyshyn RK, Sharkey LM, Dowling JJ, Murphy GG, Shakkottai VG, Shrager P, Meisler MH. Jones JM, et al. Among authors: bunton stasyshyn rk. Neurobiol Dis. 2016 May;89:36-45. doi: 10.1016/j.nbd.2016.01.018. Epub 2016 Jan 22. Neurobiol Dis. 2016. PMID: 26807988 Free PMC article.
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia K, Jones JM, Maniaci MR, Parent JM, Goodkin HP, Patel MK, Meisler MH. Bunton-Stasyshyn RKA, et al. Brain. 2019 Feb 1;142(2):362-375. doi: 10.1093/brain/awy324. Brain. 2019. PMID: 30601941 Free PMC article.
15 results