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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: tang y. Science. 2021 Dec 3;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 2. Science. 2021. PMID: 34855475
Cell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies.
Baik AD, Calafati P, Zhang X, Aaron NA, Mehra A, Moller-Tank S, Miloscio L, Praggastis M, Giovannone N, Pan C, Tang Y, Bridges S, Mujica A, Barbounis P, Yanolatos J, Gale N, Li N, Kyratsous CA, Schoenherr CJ, Murphy AJ, Economides AN, Cygnar KD. Baik AD, et al. Among authors: tang y. Mol Ther. 2021 Dec 1;29(12):3512-3524. doi: 10.1016/j.ymthe.2021.08.020. Epub 2021 Aug 14. Mol Ther. 2021. PMID: 34400331 Free PMC article.
Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.
Kojak N, Kuno J, Fittipaldi KE, Khan A, Wenger D, Glasser M, Donnianni RA, Tang Y, Zhang J, Huling K, Ally R, Mujica AO, Turner T, Magardino G, Huang PY, Kerk SY, Droguett G, Prissette M, Rojas J, Gomez T, Gagliardi A, Hunt C, Rabinowitz JS, Gong G, Poueymirou W, Chiao E, Zambrowicz B, Siao CJ, Kajimura D. Kojak N, et al. Among authors: tang y. Nucleic Acids Res. 2024 Apr 10:gkae250. doi: 10.1093/nar/gkae250. Online ahead of print. Nucleic Acids Res. 2024. PMID: 38597682
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. Nistala H, et al. Among authors: tang y. Hum Mol Genet. 2021 Jan 6;29(21):3516-3531. doi: 10.1093/hmg/ddaa237. Hum Mol Genet. 2021. PMID: 33105479 Free PMC article.
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