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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: chen j. 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 dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. Huang H, et al. Among authors: chen j. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119. Proc Natl Acad Sci U S A. 2022. PMID: 35121658 Free PMC article.
A simple one-step PCR assay for SNP detection.
Chen J, Schedl T. Chen J, et al. MicroPubl Biol. 2021 Jun 11;2021:10.17912/micropub.biology.000399. doi: 10.17912/micropub.biology.000399. MicroPubl Biol. 2021. PMID: 34131639 Free PMC article.
Role of GLD-3 in suppression of the germline stem cell fate.
Mohammad A, Chen J, Schedl T. Mohammad A, et al. Among authors: chen j. MicroPubl Biol. 2020 May 27;2020:10.17912/micropub.biology.000259. doi: 10.17912/micropub.biology.000259. MicroPubl Biol. 2020. PMID: 32550517 Free PMC article. No abstract available.
136,361 results
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