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A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Westbroek W, Nguyen M, Siebert M, Lindstrom T, Burnett RA, Aflaki E, Jung O, Tamargo R, Rodriguez-Gil JL, Acosta W, Hendrix A, Behre B, Tayebi N, Fujiwara H, Sidhu R, Renvoise B, Ginns EI, Dutra A, Pak E, Cramer C, Ory DS, Pavan WJ, Sidransky E. Westbroek W, et al. Dis Model Mech. 2016 Jul 1;9(7):769-78. doi: 10.1242/dmm.024588. Epub 2016 May 19. Dis Model Mech. 2016. PMID: 27482815 Free PMC article.
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Rodriguez-Gil JL, Baxter LL, Watkins-Chow DE, Johnson NL, Davidson CD, Carlson SR, Incao AA; NISC Comparative Sequencing Program; Wallom KL, Farhat NY, Platt FM, Dale RK, Porter FD, Pavan WJ. Rodriguez-Gil JL, et al. Hum Mol Genet. 2021 Nov 30;30(24):2456-2468. doi: 10.1093/hmg/ddab194. Hum Mol Genet. 2021. PMID: 34296265 Free PMC article.
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.
Adedokun B, Du Z, Gao G, Ahearn TU, Lunetta KL, Zirpoli G, Figueroa J, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Deming-Halverson SL, Rodriguez-Gil JL, Yao S, Ogundiran TO, Ojengbede O, Blot W, Troester MA, Nathanson KL, Hennis A, Nemesure B, Ambs S, Fiorica PN, Sucheston-Campbell LE, Bensen JT, Kushi LH, Torres-Mejia G, Hu D, Fejerman L, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Wang Q, Sandler DP, Taylor JA, O'Brien KM, Kitahara CM, Falusi AG, Babalola C, Yarney J, Awuah B, Addai-Wiafe B; GBHS Study Team; Chanock SJ, Olshan AF, Ambrosone CB, Conti DV, Ziv E, Olopade OI, Garcia-Closas M, Palmer JR, Haiman CA, Huo D. Adedokun B, et al. Nat Commun. 2021 Jul 7;12(1):4198. doi: 10.1038/s41467-021-24327-x. Nat Commun. 2021. PMID: 34234117 Free PMC article.
76 results