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Genetic dissection of the α-globin super-enhancer in vivo.
Nat Genet. 2016 Aug;48(8):895-903. doi: 10.1038/ng.3605. Epub 2016 Jul 4.
Nat Genet. 2016.
PMID: 27376235
Free PMC article.
A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker.
Bozhilov YK, Downes DJ, Telenius J, Marieke Oudelaar A, Olivier EN, Mountford JC, Hughes JR, Gibbons RJ, Higgs DR.
Bozhilov YK, et al.
Nat Commun. 2021 Jun 21;12(1):3806. doi: 10.1038/s41467-021-23980-6.
Nat Commun. 2021.
PMID: 34155213
Free PMC article.
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Reactivation of a developmentally silenced embryonic globin gene.
King AJ, Songdej D, Downes DJ, Beagrie RA, Liu S, Buckley M, Hua P, Suciu MC, Marieke Oudelaar A, Hanssen LLP, Jeziorska D, Roberts N, Carpenter SJ, Francis H, Telenius J, Olijnik AA, Sharpe JA, Sloane-Stanley J, Eglinton J, Kassouf MT, Orkin SH, Pennacchio LA, Davies JOJ, Hughes JR, Higgs DR, Babbs C.
King AJ, et al.
Nat Commun. 2021 Jul 21;12(1):4439. doi: 10.1038/s41467-021-24402-3.
Nat Commun. 2021.
PMID: 34290235
Free PMC article.
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