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Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B.
Papadopoulos P, Kafasi A, De Cuyper IM, Barroca V, Lewandowski D, Kadri Z, Veldthuis M, Berghuis J, Gillemans N, Benavente Cuesta CM, Grosveld FG, van Zwieten R, Philipsen S, Vernet M, Gutiérrez L, Patrinos GP. Papadopoulos P, et al. Hum Genomics. 2020 Oct 16;14(1):39. doi: 10.1186/s40246-020-00283-3. Hum Genomics. 2020. PMID: 33066815 Free PMC article.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Fetal globin expression is regulated by Friend of Prmt1.
van Dijk TB, Gillemans N, Pourfarzad F, van Lom K, von Lindern M, Grosveld F, Philipsen S. van Dijk TB, et al. Blood. 2010 Nov 18;116(20):4349-52. doi: 10.1182/blood-2010-03-274399. Epub 2010 Aug 5. Blood. 2010. PMID: 20688955 Free PMC article.
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.