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An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level.
Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C, Shao Z, Canver MC, Smith EC, Pinello L, Sabo PJ, Vierstra J, Voit RA, Yuan GC, Porteus MH, Stamatoyannopoulos JA, Lettre G, Orkin SH. Bauer DE, et al. Among authors: smith ec. Science. 2013 Oct 11;342(6155):253-7. doi: 10.1126/science.1242088. Science. 2013. PMID: 24115442 Free PMC article.
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.
Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE, Shalem O, Chen DD, Schupp PG, Vinjamur DS, Garcia SP, Luc S, Kurita R, Nakamura Y, Fujiwara Y, Maeda T, Yuan GC, Zhang F, Orkin SH, Bauer DE. Canver MC, et al. Among authors: smith ec. Nature. 2015 Nov 12;527(7577):192-7. doi: 10.1038/nature15521. Epub 2015 Sep 16. Nature. 2015. PMID: 26375006 Free PMC article.
Strict in vivo specificity of the Bcl11a erythroid enhancer.
Smith EC, Luc S, Croney DM, Woodworth MB, Greig LC, Fujiwara Y, Nguyen M, Sher F, Macklis JD, Bauer DE, Orkin SH. Smith EC, et al. Blood. 2016 Nov 10;128(19):2338-2342. doi: 10.1182/blood-2016-08-736249. Epub 2016 Oct 5. Blood. 2016. PMID: 27707736 Free PMC article.
Chronic Myelogenous Leukemia- Initiating Cells Require Polycomb Group Protein EZH2.
Xie H, Peng C, Huang J, Li BE, Kim W, Smith EC, Fujiwara Y, Qi J, Cheloni G, Das PP, Nguyen M, Li S, Bradner JE, Orkin SH. Xie H, et al. Among authors: smith ec. Cancer Discov. 2016 Nov;6(11):1237-1247. doi: 10.1158/2159-8290.CD-15-1439. Epub 2016 Sep 14. Cancer Discov. 2016. PMID: 27630126 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Virtual Screening of a Chemically Diverse "Superscaffold" Library Enables Ligand Discovery for a Key GPCR Target.
Grotsch K, Sadybekov AV, Hiller S, Zaidi S, Eremin D, Le A, Liu Y, Smith EC, Illiopoulis-Tsoutsouvas C, Thomas J, Aggarwal S, Pickett JE, Reyes C, Picazo E, Roth BL, Makriyannis A, Katritch V, Fokin VV. Grotsch K, et al. Among authors: smith ec. ACS Chem Biol. 2024 Apr 19;19(4):866-874. doi: 10.1021/acschembio.3c00602. Epub 2024 Apr 10. ACS Chem Biol. 2024. PMID: 38598723
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT, Liu SW, Francescatto L, Behura A, Anneling M, Jackson DG, Deak KL, Hornik CD, ElMallah MK, Pizoli CE, Smith EC, Tan KGQ, McDonald MT. Cocanougher BT, et al. Among authors: smith ec. HGG Adv. 2024 Apr 1;5(3):100288. doi: 10.1016/j.xhgg.2024.100288. Online ahead of print. HGG Adv. 2024. PMID: 38566418 Free PMC article.
395 results