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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. Marom R, et al. Among authors: silverman ga. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. eCollection 2023 Nov. PLoS Genet. 2023. PMID: 37934770 Free PMC article.
C. elegans in high-throughput drug discovery.
O'Reilly LP, Luke CJ, Perlmutter DH, Silverman GA, Pak SC. O'Reilly LP, et al. Among authors: silverman ga. Adv Drug Deliv Rev. 2014 Apr;69-70:247-53. doi: 10.1016/j.addr.2013.12.001. Epub 2013 Dec 12. Adv Drug Deliv Rev. 2014. PMID: 24333896 Free PMC article. Review.
134 results