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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Biswas K, Das R, Eggington JM, Qiao H, North SL, Stauffer S, Burkett SS, Martin BK, Southon E, Sizemore SC, Pruss D, Bowles KR, Roa BB, Hunter N, Tessarollo L, Wenstrup RJ, Byrd RA, Sharan SK. Biswas K, et al. Among authors: burkett ss. Hum Mol Genet. 2012 Sep 15;21(18):3993-4006. doi: 10.1093/hmg/dds222. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678057 Free PMC article.
BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.
Thirthagiri E, Klarmann KD, Shukla AK, Southon E, Biswas K, Martin BK, North SL, Magidson V, Burkett S, Haines DC, Noer K, Matthai R, Tessarollo L, Loncarek J, Keller JR, Sharan SK. Thirthagiri E, et al. Hum Mol Genet. 2016 May 15;25(10):1934-1945. doi: 10.1093/hmg/ddw066. Epub 2016 Feb 26. Hum Mol Genet. 2016. PMID: 26920070 Free PMC article.
Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies.
Ding X, Ray Chaudhuri A, Callen E, Pang Y, Biswas K, Klarmann KD, Martin BK, Burkett S, Cleveland L, Stauffer S, Sullivan T, Dewan A, Marks H, Tubbs AT, Wong N, Buehler E, Akagi K, Martin SE, Keller JR, Nussenzweig A, Sharan SK. Ding X, et al. Nat Commun. 2016 Aug 8;7:12425. doi: 10.1038/ncomms12425. Nat Commun. 2016. PMID: 27498558 Free PMC article.
Degradation of 5hmC-marked stalled replication forks by APE1 causes genomic instability.
Kharat SS, Ding X, Swaminathan D, Suresh A, Singh M, Sengodan SK, Burkett S, Marks H, Pamala C, He Y, Fox SD, Buehler EC, Muegge K, Martin SE, Sharan SK. Kharat SS, et al. Among authors: burkett s. Sci Signal. 2020 Aug 18;13(645):eaba8091. doi: 10.1126/scisignal.aba8091. Sci Signal. 2020. PMID: 32817374 Free PMC article.
64 results