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Page 1
Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L; Regeneron Genetics Center Collaboration‡; Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR. Montasser ME, et al. Among authors: pefanis e. Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2. Science. 2021. PMID: 34855475
The RNA Exosome Syncs IAV-RNAPII Transcription to Promote Viral Ribogenesis and Infectivity.
Rialdi A, Hultquist J, Jimenez-Morales D, Peralta Z, Campisi L, Fenouil R, Moshkina N, Wang ZZ, Laffleur B, Kaake RM, McGregor MJ, Haas K, Pefanis E, Albrecht RA, Pache L, Chanda S, Jen J, Ochando J, Byun M, Basu U, García-Sastre A, Krogan N, van Bakel H, Marazzi I. Rialdi A, et al. Among authors: pefanis e. Cell. 2017 May 4;169(4):679-692.e14. doi: 10.1016/j.cell.2017.04.021. Cell. 2017. PMID: 28475896 Free PMC article.
Tissue-specific activation of gene expression by the Synergistic Activation Mediator (SAM) CRISPRa system in mice.
Hunt C, Hartford SA, White D, Pefanis E, Hanna T, Herman C, Wiley J, Brown H, Su Q, Xin Y, Voronin D, Nguyen H, Altarejos J, Crosby K, Haines J, Cancelarich S, Drummond M, Moller-Tank S, Malpass R, Buckley J, Del Pilar Molina-Portela M, Droguett G, Frendewey D, Chiao E, Zambrowicz B, Gong G. Hunt C, et al. Among authors: pefanis e. Nat Commun. 2021 May 13;12(1):2770. doi: 10.1038/s41467-021-22932-4. Nat Commun. 2021. PMID: 33986266 Free PMC article.
Nuclear Proximity of Mtr4 to RNA Exosome Restricts DNA Mutational Asymmetry.
Lim J, Giri PK, Kazadi D, Laffleur B, Zhang W, Grinstein V, Pefanis E, Brown LM, Ladewig E, Martin O, Chen Y, Rabadan R, Boyer F, Rothschild G, Cogné M, Pinaud E, Deng H, Basu U. Lim J, et al. Among authors: pefanis e. Cell. 2017 Apr 20;169(3):523-537.e15. doi: 10.1016/j.cell.2017.03.043. Cell. 2017. PMID: 28431250 Free PMC article.
15 results