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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M. Gustavsson EK, et al. Among authors: adami a. Sci Adv. 2024 Jun 28;10(26):eadk1296. doi: 10.1126/sciadv.adk1296. Epub 2024 Jun 26. Sci Adv. 2024. PMID: 38924406 Free PMC article.
A cis-acting structural variation at the ZNF558 locus controls a gene regulatory network in human brain development.
Johansson PA, Brattås PL, Douse CH, Hsieh P, Adami A, Pontis J, Grassi D, Garza R, Sozzi E, Cataldo R, Jönsson ME, Atacho DAM, Pircs K, Eren F, Sharma Y, Johansson J, Fiorenzano A, Parmar M, Fex M, Trono D, Eichler EE, Jakobsson J. Johansson PA, et al. Among authors: adami a. Cell Stem Cell. 2022 Jan 6;29(1):52-69.e8. doi: 10.1016/j.stem.2021.09.008. Epub 2021 Oct 7. Cell Stem Cell. 2022. PMID: 34624206 Free article.
LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.
Garza R, Atacho DAM, Adami A, Gerdes P, Vinod M, Hsieh P, Karlsson O, Horvath V, Johansson PA, Pandiloski N, Matas-Fuentes J, Quaegebeur A, Kouli A, Sharma Y, Jönsson ME, Monni E, Englund E, Eichler EE, Gale Hammell M, Barker RA, Kokaia Z, Douse CH, Jakobsson J. Garza R, et al. Among authors: adami a. Sci Adv. 2023 Nov 3;9(44):eadh9543. doi: 10.1126/sciadv.adh9543. Epub 2023 Nov 1. Sci Adv. 2023. PMID: 37910626 Free PMC article.
Single-cell transcriptomics of human traumatic brain injury reveals activation of endogenous retroviruses in oligodendroglia.
Garza R, Sharma Y, Atacho DAM, Thiruvalluvan A, Abu Hamdeh S, Jönsson ME, Horvath V, Adami A, Ingelsson M, Jern P, Hammell MG, Englund E, Kirkeby A, Jakobsson J, Marklund N. Garza R, et al. Among authors: adami a. Cell Rep. 2023 Nov 28;42(11):113395. doi: 10.1016/j.celrep.2023.113395. Epub 2023 Nov 14. Cell Rep. 2023. PMID: 37967557 Free article.
Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.
Horváth V, Garza R, Jönsson ME, Johansson PA, Adami A, Christoforidou G, Karlsson O, Castilla Vallmanya L, Koutounidou S, Gerdes P, Pandiloski N, Douse CH, Jakobsson J. Horváth V, et al. Among authors: adami a. Nat Struct Mol Biol. 2024 Oct;31(10):1543-1556. doi: 10.1038/s41594-024-01320-8. Epub 2024 Jun 4. Nat Struct Mol Biol. 2024. PMID: 38834915 Free PMC article.
DNA methylation governs the sensitivity of repeats to restriction by the HUSH-MORC2 corepressor.
Pandiloski N, Horváth V, Karlsson O, Koutounidou S, Dorazehi F, Christoforidou G, Matas-Fuentes J, Gerdes P, Garza R, Jönsson ME, Adami A, Atacho DAM, Johansson JG, Englund E, Kokaia Z, Jakobsson J, Douse CH. Pandiloski N, et al. Among authors: adami a. Nat Commun. 2024 Aug 30;15(1):7534. doi: 10.1038/s41467-024-50765-4. Nat Commun. 2024. PMID: 39214989 Free PMC article.
282 results