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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本文引用的文献
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Mutations in topoisomerase IIβ result in a B cell immunodeficiency.拓扑异构酶 IIβ 突变导致 B 细胞免疫缺陷。
Nat Commun. 2019 Aug 13;10(1):3644. doi: 10.1038/s41467-019-11570-6.
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Genome Organization Drives Chromosome Fragility.基因组组织驱动染色体脆弱性。
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Roles of eukaryotic topoisomerases in transcription, replication and genomic stability.真核生物拓扑异构酶在转录、复制和基因组稳定性中的作用。
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Topoisomerase II beta interacts with cohesin and CTCF at topological domain borders.拓扑异构酶IIβ在拓扑结构域边界与黏连蛋白和CTCF相互作用。
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
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