Boyling A - Search Results

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Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets.

Krishnaraj R, Haase F, Coorey B, Luca EJ, Wong I, Boyling A, Ellaway C, Christodoulou J, Gold WA. Krishnaraj R, et al. Among authors: boyling a. Hum Mutat. 2019 Dec;40(12):2184-2196. doi: 10.1002/humu.23887. Epub 2019 Aug 23. Hum Mutat. 2019. PMID: 31379106 Review.

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

Boyling A, Perez-Siles G, Kennerson ML. Boyling A, et al. Front Genet. 2022 Mar 25;13:842860. doi: 10.3389/fgene.2022.842860. eCollection 2022. Front Genet. 2022. PMID: 35401663 Free PMC article. Review.

CSA-90 reduces periprosthetic joint infection in a novel rat model challenged with local and systemic Staphylococcus aureus.

Mills RJ, Boyling A, Cheng TL, Peacock L, Savage PB, Tägil M, Little DG, Schindeler A. Mills RJ, et al. Among authors: boyling a. J Orthop Res. 2020 Sep;38(9):2065-2073. doi: 10.1002/jor.24618. Epub 2020 Feb 11. J Orthop Res. 2020. PMID: 32009241 Free article.

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement.

Narayanan RK, Perez-Siles G, Marzec KA, Boyling A, Neumann B, Menezes MP, Kennerson ML. Narayanan RK, et al. Among authors: boyling a. Genes Dis. 2023 Aug 8;11(4):101071. doi: 10.1016/j.gendis.2023.06.038. eCollection 2024 Jul. Genes Dis. 2023. PMID: 38515939 Free PMC article. No abstract available.

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Cutrupi AN, Narayanan RK, Perez-Siles G, Grosz BR, Lai K, Boyling A, Ellis M, Lin RCY, Neumann B, Mao D, Uesugi M, Nicholson GA, Vucic S, Saporta MA, Kennerson ML. Cutrupi AN, et al. Among authors: boyling a. Brain. 2023 Mar 1;146(3):880-897. doi: 10.1093/brain/awac424. Brain. 2023. PMID: 36380488 Free PMC article.

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