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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: washington me. 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.
A microbiome-targeting fibre-enriched nutritional formula is well tolerated and improves quality of life and haemoglobin A1c in type 2 diabetes: A double-blind, randomized, placebo-controlled trial.
Frias JP, Lee ML, Carter MM, Ebel ER, Lai RH, Rikse L, Washington ME, Sonnenburg JL, Damman CJ. Frias JP, et al. Among authors: washington me. Diabetes Obes Metab. 2023 May;25(5):1203-1212. doi: 10.1111/dom.14967. Epub 2023 Jan 23. Diabetes Obes Metab. 2023. PMID: 36594522 Clinical Trial.