Mutations in topoisomerase IIβ result in a B cell immunodeficiency
Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation.
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Nature Portfolio
2019
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oai:doaj.org-article:f68d775e267842bf9a3e97c19180cf332021-12-02T15:35:39ZMutations in topoisomerase IIβ result in a B cell immunodeficiency10.1038/s41467-019-11570-62041-1723https://doaj.org/article/f68d775e267842bf9a3e97c19180cf332019-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11570-6https://doaj.org/toc/2041-1723Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation.Lori BroderickShawn YostDong LiMatthew D. McGeoughLaela M. BooshehriMarisela GuaderramaSusannah D. BrydgesKarolina KucharovaNiraj C. PatelMargaret HarrHakon HakonarsonElaine ZackaiIan G. CowellCaroline A. AustinBoris HügleCorinna GebauerJianguo ZhangXun XuJian WangBen A. CrokerKelly A. FrazerChristopher D. PutnamHal M. HoffmanNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Lori Broderick Shawn Yost Dong Li Matthew D. McGeough Laela M. Booshehri Marisela Guaderrama Susannah D. Brydges Karolina Kucharova Niraj C. Patel Margaret Harr Hakon Hakonarson Elaine Zackai Ian G. Cowell Caroline A. Austin Boris Hügle Corinna Gebauer Jianguo Zhang Xun Xu Jian Wang Ben A. Croker Kelly A. Frazer Christopher D. Putnam Hal M. Hoffman Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| description |
Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation. |
| format |
article |
| author |
Lori Broderick Shawn Yost Dong Li Matthew D. McGeough Laela M. Booshehri Marisela Guaderrama Susannah D. Brydges Karolina Kucharova Niraj C. Patel Margaret Harr Hakon Hakonarson Elaine Zackai Ian G. Cowell Caroline A. Austin Boris Hügle Corinna Gebauer Jianguo Zhang Xun Xu Jian Wang Ben A. Croker Kelly A. Frazer Christopher D. Putnam Hal M. Hoffman |
| author_facet |
Lori Broderick Shawn Yost Dong Li Matthew D. McGeough Laela M. Booshehri Marisela Guaderrama Susannah D. Brydges Karolina Kucharova Niraj C. Patel Margaret Harr Hakon Hakonarson Elaine Zackai Ian G. Cowell Caroline A. Austin Boris Hügle Corinna Gebauer Jianguo Zhang Xun Xu Jian Wang Ben A. Croker Kelly A. Frazer Christopher D. Putnam Hal M. Hoffman |
| author_sort |
Lori Broderick |
| title |
Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| title_short |
Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| title_full |
Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| title_fullStr |
Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| title_full_unstemmed |
Mutations in topoisomerase IIβ result in a B cell immunodeficiency |
| title_sort |
mutations in topoisomerase iiβ result in a b cell immunodeficiency |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/f68d775e267842bf9a3e97c19180cf33 |
| work_keys_str_mv |
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| _version_ |
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