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Page 1
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Loeb GB, Kathail P, Shuai R, Chung R, Grona RJ, Peddada S, Sevim V, Federman S, Mader K, Chu A, Davitte J, Du J, Gupta AR, Ye CJ, Shafer S, Przybyla L, Rapiteanu R, Ioannidis N, Reiter JF. Loeb GB, et al. Among authors: przybyla l. bioRxiv [Preprint]. 2024 Jun 22:2024.06.18.599625. doi: 10.1101/2024.06.18.599625. bioRxiv. 2024. Update in: Nat Genet. 2024 Oct;56(10):2078-2092. doi: 10.1038/s41588-024-01904-6 PMID: 38948875 Free PMC article. Updated. Preprint.
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Loeb GB, Kathail P, Shuai RW, Chung R, Grona RJ, Peddada S, Sevim V, Federman S, Mader K, Chu AY, Davitte J, Du J, Gupta AR, Ye CJ, Shafer S, Przybyla L, Rapiteanu R, Ioannidis NM, Reiter JF. Loeb GB, et al. Among authors: przybyla l. Nat Genet. 2024 Oct;56(10):2078-2092. doi: 10.1038/s41588-024-01904-6. Epub 2024 Sep 10. Nat Genet. 2024. PMID: 39256582
Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic.
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Yoon Low RL, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G. Logan T, et al. Among authors: przybyla l. Cell. 2024 Mar 14;187(6):1565-1566. doi: 10.1016/j.cell.2024.02.015. Cell. 2024. PMID: 38490183 Free article. No abstract available.
Compact CRISPR genetic screens enabled by improved guide RNA library cloning.
Heo SJ, Enriquez LD, Federman S, Chang AY, Mace R, Shevade K, Nguyen P, Litterman AJ, Shafer S, Przybyla L, Chow ED. Heo SJ, et al. Among authors: przybyla l. Genome Biol. 2024 Jan 19;25(1):25. doi: 10.1186/s13059-023-03132-3. Genome Biol. 2024. PMID: 38243310 Free PMC article.
A new era in functional genomics screens.
Przybyla L, Gilbert LA. Przybyla L, et al. Nat Rev Genet. 2022 Feb;23(2):89-103. doi: 10.1038/s41576-021-00409-w. Epub 2021 Sep 20. Nat Rev Genet. 2022. PMID: 34545248 Review.
Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic.
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Low RLY, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G. Logan T, et al. Among authors: przybyla l. Cell. 2021 Sep 2;184(18):4651-4668.e25. doi: 10.1016/j.cell.2021.08.002. Epub 2021 Aug 26. Cell. 2021. PMID: 34450028 Free PMC article.
Understanding LRRK2 kinase activity in preclinical models and human subjects through quantitative analysis of LRRK2 and pT73 Rab10.
Wang X, Negrou E, Maloney MT, Bondar VV, Andrews SV, Montalban M, Llapashtica C, Maciuca R, Nguyen H, Solanoy H, Arguello A, Przybyla L, Moerke NJ, Huntwork-Rodriguez S, Henry AG. Wang X, et al. Among authors: przybyla l. Sci Rep. 2021 Jun 18;11(1):12900. doi: 10.1038/s41598-021-91943-4. Sci Rep. 2021. PMID: 34145320 Free PMC article.
26 results