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    Article

    Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

    Sjaak Philipsen and colleagues report that haploinsufficiency for KLF1 causes hereditary persistence of fetal hemoglobin in a large Maltese family. They further show that KLF1 is a key activator of BCL11A, whi...

    Joseph Borg, Petros Papadopoulos, Marianthi Georgitsi, Laura Gutiérrez in Nature Genetics (2010)

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    Open Access

    Mild dyserythropoiesis and β-like globin gene expression imbalance due to the loss of histone chaperone ASF1B

    The expression of the human β-like globin genes follows a well-orchestrated developmental pattern, undergoing two essential switches, the first one during the first weeks of gestation (ε to γ), and the second ...

    Petros Papadopoulos, Athanassia Kafasi, Iris M. De Cuyper, Vilma Barroca in Human Genomics (2020)