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Page 1
RAD51C deficiency in mice results in early prophase I arrest in males and sister chromatid separation at metaphase II in females.
Kuznetsov S, Pellegrini M, Shuda K, Fernandez-Capetillo O, Liu Y, Martin BK, Burkett S, Southon E, Pati D, Tessarollo L, West SC, Donovan PJ, Nussenzweig A, Sharan SK. Kuznetsov S, et al. Among authors: southon e. J Cell Biol. 2007 Feb 26;176(5):581-92. doi: 10.1083/jcb.200608130. Epub 2007 Feb 20. J Cell Biol. 2007. PMID: 17312021 Free PMC article.
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: southon e. 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. Among authors: southon e. 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.
Interaction with PALB2 Is Essential for Maintenance of Genomic Integrity by BRCA2.
Hartford SA, Chittela R, Ding X, Vyas A, Martin B, Burkett S, Haines DC, Southon E, Tessarollo L, Sharan SK. Hartford SA, et al. Among authors: southon e. PLoS Genet. 2016 Aug 4;12(8):e1006236. doi: 10.1371/journal.pgen.1006236. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27490902 Free PMC article.
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léoné M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A. Tubeuf H, et al. Among authors: southon e. Cancer Res. 2020 Sep 1;80(17):3593-3605. doi: 10.1158/0008-5472.CAN-20-0895. Epub 2020 Jul 8. Cancer Res. 2020. PMID: 32641407 Free PMC article.
Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.
Sullivan T, Thirthagiri E, Chong CE, Stauffer S, Reid S, Southon E, Hassan T, Ravichandran A, Wijaya E, Lim J, Taib NAM, Fadzli F, Yip CH, Hartman M, Li J, van Dam RM, North SL, Das R, Easton DF, Biswas K, Teo SH, Sharan SK; SGBCC Investigators; MYBRCA Investigators. Sullivan T, et al. Among authors: southon e. Hum Mutat. 2021 Feb;42(2):200-212. doi: 10.1002/humu.24154. Epub 2020 Dec 31. Hum Mutat. 2021. PMID: 33314489 Free PMC article.
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Biswas K, Couillard M, Cavallone L, Burkett S, Stauffer S, Martin BK, Southon E, Reid S, Plona TM, Baugher RN, Mellott SD, Pike KM, Albaugh ME, Maedler-Kron C, Hamel N, Tessarollo L, Marcus V, Foulkes WD, Sharan SK. Biswas K, et al. Among authors: southon e. Cell Death Dis. 2021 Sep 6;12(9):838. doi: 10.1038/s41419-021-04130-8. Cell Death Dis. 2021. PMID: 34489406 Free PMC article.
BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks.
Mishra AP, Hartford SA, Sahu S, Klarmann K, Chittela RK, Biswas K, Jeon AB, Martin BK, Burkett S, Southon E, Reid S, Albaugh ME, Karim B, Tessarollo L, Keller JR, Sharan SK. Mishra AP, et al. Among authors: southon e. Nat Commun. 2022 Apr 1;13(1):1751. doi: 10.1038/s41467-022-29409-y. Nat Commun. 2022. PMID: 35365640 Free PMC article.
35 results