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Topoisomerase 2β mutation impairs early B-cell development.

作者信息

Papapietro Olivier, Chandra Anita, Eletto Davide, Inglott Sarah, Plagnol Vincent, Curtis James, Maes Mailis, Alisaac Ali, Albuquerque Adriana S, Basseres Eugenie, Hermine Olivier, Picard Capucine, Fischer Alain, Durandy Anne, Kracker Sven, Burns Siobhan O, Cuchet-Lourenco Delphine, Okkenhaug Klaus, Nejentsev Sergey

机构信息

Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

Department of Molecular Cell Biology and Immunology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

出版信息

Blood. 2020 Apr 23;135(17):1497-1501. doi: 10.1182/blood.2019003299.

Abstract
摘要

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1
Mutations in topoisomerase IIβ result in a B cell immunodeficiency.
Nat Commun. 2019 Aug 13;10(1):3644. doi: 10.1038/s41467-019-11570-6.
2
Genome Organization Drives Chromosome Fragility.
Cell. 2017 Jul 27;170(3):507-521.e18. doi: 10.1016/j.cell.2017.06.034. Epub 2017 Jul 20.
3
Roles of eukaryotic topoisomerases in transcription, replication and genomic stability.
Nat Rev Mol Cell Biol. 2016 Nov;17(11):703-721. doi: 10.1038/nrm.2016.111. Epub 2016 Sep 21.
4
Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders.
Genome Biol. 2016 Aug 31;17(1):182. doi: 10.1186/s13059-016-1043-8.
5
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
6
Glucocorticoid Receptor Transcriptional Activation via the BRG1-Dependent Recruitment of TOP2β and Ku70/86.
Mol Cell Biol. 2015 Aug;35(16):2799-817. doi: 10.1128/MCB.00230-15. Epub 2015 Jun 8.
7
Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes.
Cell. 2015 Jun 18;161(7):1592-605. doi: 10.1016/j.cell.2015.05.032. Epub 2015 Jun 4.
8
The I-TASSER Suite: protein structure and function prediction.
Nat Methods. 2015 Jan;12(1):7-8. doi: 10.1038/nmeth.3213.
9
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
J Clin Invest. 2013 Nov;123(11):4781-5. doi: 10.1172/JCI71927.
10
Topoisomerases facilitate transcription of long genes linked to autism.
Nature. 2013 Sep 5;501(7465):58-62. doi: 10.1038/nature12504. Epub 2013 Aug 28.

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