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Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.
Gentien D, Saberi-Ansari E, Servant N, Jolly A, de la Grange P, Némati F, Liot G, Saule S, Teissandier A, Bourc'his D, Girard E, Wong J, Masliah-Planchon J, Narmanli E, Liu Y, Torun E, Goulancourt R, Rodrigues M, Gaudé LV, Reyes C, Bazire M, Chenegros T, Henry E, Rapinat A, Bohec M, Baulande S, M'kacher R, Jeandidier E, Nicolas A, Ciriello G, Margueron R, Decaudin D, Cassoux N, Piperno-Neumann S, Stern MH, Gibcus JH, Dekker J, Heard E, Roman-Roman S, Waterfall JJ. Gentien D, et al. Among authors: margueron r. Cell Rep. 2023 Sep 26;42(9):113132. doi: 10.1016/j.celrep.2023.113132. Epub 2023 Sep 13. Cell Rep. 2023. PMID: 37708024 Free PMC article.
PBRM1 Deficiency Confers Synthetic Lethality to DNA Repair Inhibitors in Cancer.
Chabanon RM, Morel D, Eychenne T, Colmet-Daage L, Bajrami I, Dorvault N, Garrido M, Meisenberg C, Lamb A, Ngo C, Hopkins SR, Roumeliotis TI, Jouny S, Hénon C, Kawai-Kawachi A, Astier C, Konde A, Del Nery E, Massard C, Pettitt SJ, Margueron R, Choudhary JS, Almouzni G, Soria JC, Deutsch E, Downs JA, Lord CJ, Postel-Vinay S. Chabanon RM, et al. Among authors: margueron r. Cancer Res. 2021 Jun 1;81(11):2888-2902. doi: 10.1158/0008-5472.CAN-21-0628. Cancer Res. 2021. PMID: 33888468
Quantitative mass spectrometry revealed that multiple R-loop processing factors were downregulated in PBRM1-defective tumor cells. Exogenous expression of the R-loop resolution enzyme RNase H1 reversed the sensitivity of PBRM1-deficient cells to PARP inhibitors, sug …
Quantitative mass spectrometry revealed that multiple R-loop processing factors were downregulated in PBRM1-defective tumor cells. Ex …
Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.
Rombaut D, Lefèvre C, Rached T, Bondu S, Letessier A, Mangione RM, Farhat B, Lesieur-Pasquier A, Castillo-Guzman D, Boussaid I, Friedrich C, Tourville A, De Carvalho M, Levavasseur F, Leduc M, Le Gall M, Battault S, Temple M, Houy A, Bouscary D, Willems L, Park S, Raynaud S, Cluzeau T, Clappier E, Fenaux P, Adès L, Margueron R, Wassef M, Alsafadi S, Chapuis N, Kosmider O, Solary E, Constantinou A, Stern MH, Droin N, Palancade B, Miotto B, Chédin F, Fontenay M. Rombaut D, et al. Among authors: margueron r. Nat Commun. 2024 Apr 8;15(1):3016. doi: 10.1038/s41467-024-46547-7. Nat Commun. 2024. PMID: 38589367 Free PMC article.
Importantly, histone deacetylase inhibition using vorinostat restores R-loop formation, slows down DNA replication forks and improves SF3B1-mutated erythroblast differentiation. In conclusion, loss of R-loops with associated DNA replication stress represents a hallm …
Importantly, histone deacetylase inhibition using vorinostat restores R-loop formation, slows down DNA replication forks and improves …
Versatile and precise gene-targeting strategies for functional studies in mammalian cell lines.
Wassef M, Luscan A, Battistella A, Le Corre S, Li H, Wallace MR, Vidaud M, Margueron R. Wassef M, et al. Among authors: margueron r. Methods. 2017 May 15;121-122:45-54. doi: 10.1016/j.ymeth.2017.05.003. Epub 2017 May 10. Methods. 2017. PMID: 28499832 Review.
Given the more precise type of modifications that can be introduced upon homology-directed repair (HDR), we have developed HDR-based gene-targeting strategies that greatly facilitate the process of knockout generation in cell lines. To generate reversible knockouts (R-KO), …
Given the more precise type of modifications that can be introduced upon homology-directed repair (HDR), we have developed HDR-based gene-ta …
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.
A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome.
Bondu S, Alary AS, Lefèvre C, Houy A, Jung G, Lefebvre T, Rombaut D, Boussaid I, Bousta A, Guillonneau F, Perrier P, Alsafadi S, Wassef M, Margueron R, Rousseau A, Droin N, Cagnard N, Kaltenbach S, Winter S, Kubasch AS, Bouscary D, Santini V, Toma A, Hunault M, Stamatoullas A, Gyan E, Cluzeau T, Platzbecker U, Adès L, Puy H, Stern MH, Karim Z, Mayeux P, Nemeth E, Park S, Ganz T, Kautz L, Kosmider O, Fontenay M. Bondu S, et al. Among authors: margueron r. Sci Transl Med. 2019 Jul 10;11(500):eaav5467. doi: 10.1126/scitranslmed.aav5467. Sci Transl Med. 2019. PMID: 31292266 Free PMC article. Clinical Trial.
Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor.
Derrien AC, Houy A, Ganier O, Dingli F, Ningarhari M, Mobuchon L, Espejo Díaz MI, Loew D, Cassoux N, Cussenot O, Cancel-Tassin G, Margueron R, Noirel J, Zucman-Rossi J, Rodrigues M, Stern MH. Derrien AC, et al. Among authors: margueron r. Am J Hum Genet. 2022 Dec 1;109(12):2196-2209. doi: 10.1016/j.ajhg.2022.11.004. Am J Hum Genet. 2022. PMID: 36459980 Free PMC article.