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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: margueron r. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Modulating BAP1 expression affects ROS homeostasis, cell motility and mitochondrial function.
Hebert L, Bellanger D, Guillas C, Campagne A, Dingli F, Loew D, Fievet A, Jacquemin V, Popova T, Jean D, Mechta-Grigoriou F, Margueron R, Stern MH. Hebert L, et al. Among authors: margueron r. Oncotarget. 2017 Aug 3;8(42):72513-72527. doi: 10.18632/oncotarget.19872. eCollection 2017 Sep 22. Oncotarget. 2017. PMID: 29069806 Free PMC article.
BAP1 complex promotes transcription by opposing PRC1-mediated H2A ubiquitylation.
Campagne A, Lee MK, Zielinski D, Michaud A, Le Corre S, Dingli F, Chen H, Shahidian LZ, Vassilev I, Servant N, Loew D, Pasmant E, Postel-Vinay S, Wassef M, Margueron R. Campagne A, et al. Among authors: margueron r. Nat Commun. 2019 Jan 21;10(1):348. doi: 10.1038/s41467-018-08255-x. Nat Commun. 2019. PMID: 30664650 Free PMC article.
The Multiple Facets of PRC2 Alterations in Cancers.
Wassef M, Margueron R. Wassef M, et al. Among authors: margueron r. J Mol Biol. 2017 Jun 30;429(13):1978-1993. doi: 10.1016/j.jmb.2016.10.012. Epub 2016 Oct 12. J Mol Biol. 2017. PMID: 27742591 Review.
Chromatin biology: Breaking into the PRC2 cage.
Holoch D, Margueron R. Holoch D, et al. Among authors: margueron r. Nat Chem Biol. 2017 Apr;13(4):345-346. doi: 10.1038/nchembio.2313. Epub 2017 Jan 30. Nat Chem Biol. 2017. PMID: 28135238 No abstract available.
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P, Richart L, Aflaki S, Petitalot A, Burton M, Michaud A, Masliah-Planchon J, Kuhnowski F, Le Cam S, Baliñas-Gavira C, Méaudre C, Luscan A, Hamza A, Legoix P, Vincent-Salomon A, Wassef M, Holoch D, Margueron R. Romero P, et al. Among authors: margueron r. Nat Commun. 2024 Apr 24;15(1):3452. doi: 10.1038/s41467-024-47701-x. Nat Commun. 2024. PMID: 38658543 Free PMC article.
The Polycomb complex PRC2 and its mark in life.
Margueron R, Reinberg D. Margueron R, et al. Nature. 2011 Jan 20;469(7330):343-9. doi: 10.1038/nature09784. Nature. 2011. PMID: 21248841 Free PMC article. Review.
76 results