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Year Number of Results
2013 2
2014 1
2015 3
2016 2
2018 3
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2020 5
2021 1
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2023 1
2024 0

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24 results

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Page 1
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. 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.
Release of CHK-2 from PPM-1.D anchorage schedules meiotic entry.
Baudrimont A, Paouneskou D, Mohammad A, Lichtenberger R, Blundon J, Kim Y, Hartl M, Falk S, Schedl T, Jantsch V. Baudrimont A, et al. Sci Adv. 2022 Feb 18;8(7):eabl8861. doi: 10.1126/sciadv.abl8861. Epub 2022 Feb 16. Sci Adv. 2022. PMID: 35171669 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. 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.
Characterization of Metabolic Patterns in Mouse Oocytes during Meiotic Maturation.
Li L, Zhu S, Shu W, Guo Y, Guan Y, Zeng J, Wang H, Han L, Zhang J, Liu X, Li C, Hou X, Gao M, Ge J, Ren C, Zhang H, Schedl T, Guo X, Chen M, Wang Q. Li L, et al. Mol Cell. 2020 Nov 5;80(3):525-540.e9. doi: 10.1016/j.molcel.2020.09.022. Epub 2020 Oct 16. Mol Cell. 2020. PMID: 33068521 Free PMC article.
The NEMP family supports metazoan fertility and nuclear envelope stiffness.
Tsatskis Y, Rosenfeld R, Pearson JD, Boswell C, Qu Y, Kim K, Fabian L, Mohammad A, Wang X, Robson MI, Krchma K, Wu J, Gonçalves J, Hodzic D, Wu S, Potter D, Pelletier L, Dunham WH, Gingras AC, Sun Y, Meng J, Godt D, Schedl T, Ciruna B, Choi K, Perry JRB, Bremner R, Schirmer EC, Brill JA, Jurisicova A, McNeill H. Tsatskis Y, et al. Sci Adv. 2020 Aug 28;6(35):eabb4591. doi: 10.1126/sciadv.abb4591. eCollection 2020 Aug. Sci Adv. 2020. PMID: 32923640 Free PMC article.
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