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Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.
Langouët M, Jolicoeur C, Javed A, Mattar P, Gearhart MD, Daiger SP, Bertelsen M, Tranebjærg L, Rendtorff ND, Grønskov K, Jespersgaard C, Chen R, Sun Z, Li H, Alirezaie N, Majewski J, Bardwell VJ, Sui R, Koenekoop RK, Cayouette M. Langouët M, et al. Sci Adv. 2022 Sep 9;8(36):eabh2868. doi: 10.1126/sciadv.abh2868. Epub 2022 Sep 7. Sci Adv. 2022. PMID: 36070393 Free PMC article.
BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes.
Schaefer EJ, Wang HC, Karp HQ, Meyer CA, Cejas P, Gearhart MD, Adelman ER, Fares I, Apffel A, Lim K, Xie Y, Gibson CJ, Schenone M, Murdock HM, Wang ES, Gondek LP, Carroll MP, Vedula RS, Winer ES, Garcia JS, Stone RM, Luskin MR, Carr SA, Long HW, Bardwell VJ, Figueroa ME, Lindsley RC. Schaefer EJ, et al. Blood Cancer Discov. 2022 Mar 1;3(2):116-135. doi: 10.1158/2643-3230.BCD-21-0115. Blood Cancer Discov. 2022. PMID: 35015684 Free PMC article.
Bcor insufficiency promotes initiation and progression of myelodysplastic syndrome.
Tara S, Isshiki Y, Nakajima-Takagi Y, Oshima M, Aoyama K, Tanaka T, Shinoda D, Koide S, Saraya A, Miyagi S, Manabe I, Matsui H, Koseki H, Bardwell VJ, Iwama A. Tara S, et al. Blood. 2018 Dec 6;132(23):2470-2483. doi: 10.1182/blood-2018-01-827964. Epub 2018 Sep 18. Blood. 2018. PMID: 30228234 Free PMC article.
A Non-canonical BCOR-PRC1.1 Complex Represses Differentiation Programs in Human ESCs.
Wang Z, Gearhart MD, Lee YW, Kumar I, Ramazanov B, Zhang Y, Hernandez C, Lu AY, Neuenkirchen N, Deng J, Jin J, Kluger Y, Neubert TA, Bardwell VJ, Ivanova NB. Wang Z, et al. Cell Stem Cell. 2018 Feb 1;22(2):235-251.e9. doi: 10.1016/j.stem.2017.12.002. Epub 2018 Jan 11. Cell Stem Cell. 2018. PMID: 29337181 Free PMC article.
Structure and Role of BCOR PUFD in Noncanonical PRC1 Assembly and Disease.
Wong SJ, Senkovich O, Artigas JA, Gearhart MD, Ilangovan U, Graham DW, Abel KN, Yu T, Hinck AP, Bardwell VJ, Kim CA. Wong SJ, et al. Biochemistry. 2020 Jul 28;59(29):2718-2728. doi: 10.1021/acs.biochem.0c00285. Epub 2020 Jul 10. Biochemistry. 2020. PMID: 32628469 Free PMC article.
Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.
Kutscher LM, Okonechnikov K, Batora NV, Clark J, Silva PBG, Vouri M, van Rijn S, Sieber L, Statz B, Gearhart MD, Shiraishi R, Mack N, Orr BA, Korshunov A, Gudenas BL, Smith KS, Mercier AL, Ayrault O, Hoshino M, Kool M, von Hoff K, Graf N, Fleischhack G, Bardwell VJ, Pfister SM, Northcott PA, Kawauchi D. Kutscher LM, et al. Genes Dev. 2020 Sep 1;34(17-18):1161-1176. doi: 10.1101/gad.337584.120. Epub 2020 Aug 20. Genes Dev. 2020. PMID: 32820036 Free PMC article.