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Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency.
Wessels MW, Cnossen MH, van Dijk TB, Gillemans N, Schmidt KLJ, van Lom K, Vinjamur DS, Coyne S, Kurita R, Nakamura Y, de Man SA, Pfundt R, Azmani Z, Brouwer RWW, Bauer DE, van den Hout MCGN, van IJcken WFJ, Philipsen S. Wessels MW, et al. Among authors: nakamura y. Blood Adv. 2021 May 11;5(9):2339-2349. doi: 10.1182/bloodadvances.2020003753. Blood Adv. 2021. PMID: 33938942 Free PMC article.
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.
Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE, Shalem O, Chen DD, Schupp PG, Vinjamur DS, Garcia SP, Luc S, Kurita R, Nakamura Y, Fujiwara Y, Maeda T, Yuan GC, Zhang F, Orkin SH, Bauer DE. Canver MC, et al. Among authors: nakamura y. Nature. 2015 Nov 12;527(7577):192-7. doi: 10.1038/nature15521. Epub 2015 Sep 16. Nature. 2015. PMID: 26375006 Free PMC article.
Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin.
Masuda T, Wang X, Maeda M, Canver MC, Sher F, Funnell AP, Fisher C, Suciu M, Martyn GE, Norton LJ, Zhu C, Kurita R, Nakamura Y, Xu J, Higgs DR, Crossley M, Bauer DE, Orkin SH, Kharchenko PV, Maeda T. Masuda T, et al. Among authors: nakamura y. Science. 2016 Jan 15;351(6270):285-9. doi: 10.1126/science.aad3312. Science. 2016. PMID: 26816381 Free PMC article.
KLF1 drives the expression of fetal hemoglobin in British HPFH.
Wienert B, Martyn GE, Kurita R, Nakamura Y, Quinlan KGR, Crossley M. Wienert B, et al. Among authors: nakamura y. Blood. 2017 Aug 10;130(6):803-807. doi: 10.1182/blood-2017-02-767400. Epub 2017 Jun 28. Blood. 2017. PMID: 28659276 Free article.
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch.
Liu N, Hargreaves VV, Zhu Q, Kurland JV, Hong J, Kim W, Sher F, Macias-Trevino C, Rogers JM, Kurita R, Nakamura Y, Yuan GC, Bauer DE, Xu J, Bulyk ML, Orkin SH. Liu N, et al. Among authors: nakamura y. Cell. 2018 Apr 5;173(2):430-442.e17. doi: 10.1016/j.cell.2018.03.016. Epub 2018 Mar 29. Cell. 2018. PMID: 29606353 Free PMC article.
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