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The two beta-TI patients were homozygous for a new mutation c.942delA in exon 3 of KLF1. Mutations in modifier genes can cause or affect thalassemia. Therefore, exact investigation of globin genes and modifiers such as KLF1 is necessary in areas where globin gene disorders are most prevalent to understand the reason of clinical and hematological symptoms of thalassemia and facilitate newborn screening or prenatal diagn...
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Our results suggest that if there are mutations in KLF1 associated with erythroid malignancies, they are exceedingly rare.
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KLF1 and KLF9 synergistically regulated erythroid differentiation through the PI3K-Akt and FoxO signaling pathways.
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This case illustrates the E325K mutation in KLF1 presenting with severe anemia in infancy, persistently elevated fetal hemoglobin, and progressive improvement with age. This case of CDA because of KLF1 mutation highlights the common features and expected disease course of Congenital dyserythropoetic anemia type IV.
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These results suggest that hypomethylation of the EKLF promoter has functional significance in the establishment and maintenance of erythroid-specific gene expression.
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To the best of our knowledge, this is the first report of p.Ser102Pro (c.304T>C) in the KLF1 gene in beta-thalassemia patients with increased level of fetal hemoglobin
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A Chinese family with KLF1 mutation causing mild beta-thalassemia
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KLF1 gene variants are common in Chinese subjects with alpha-thal and increased Hb F levels, and KLF1 gene mutations decreased the red blood cell (RBC) indices in alpha-thal carriers as that in normal adults.
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miR-326 suppresses EKLF expression directly by targeting its 3' UTR. In K562 cells, mir-326 overexpression reduced EKLF and increased gamma-globin production, while EKLF inhibition did the opposite.
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KLF1 promoted metastasis and invasion via the PI3K/Akt signaling pathway in cervical cancer cells.
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3 new mutations were found KLF1*90A (p.Trp30Ter), KLF*911A (p.Thr304Lys), and KLF1*304C,318G (p. Ser102Pro, Tyr106Ter) in 2 unrelated individuals. 2 others had c.954dupG (p.Arg319Glufs*34), that is, KLF1*BGM06. A child with unexplained anemia had c.973G>A (p.Glu325Lys), associated with congenital dyserythropoietic anemia. The common c.304T>C was found in 2 of 7 samples and 60 of 100 blood donors.
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4 individuals who were Lua and Lub negative were identified from 5420 unrelated blood donors. KLF1 allele with c.199delA and c.304T>C in Exon 2 was identified in one individual, which caused a frameshift at AA67 and formed a new premature stop codon at nucleotide position 708 p.(Gly68AlafsTer236). One KLF1 allele with c.304T>C and c.604G>A was found in another, which resulted which resulted in p.Ser102Pro and p.Gly202A.
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Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation.
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Reduction of KLF1 expression in beta(0)-thalassemia/HbE erythroblasts can increase HbF levels.
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Alterations in high HbF levels may be associated with KLF1 gene mutations.
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KLF1 enhancer sequence is frequently hypermethylated in juvenile myelomonocytic leukemia.
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Findings suggest that the induction of an indel mutation in the Kruppel like factor 1 (KLF1) gene leading to a null allele.
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KLF1 is an important genetic factor associated with increased Hb F and in combination with other modifying factors could explain the phenotypic variation of Hb F expression in this common hemoglobinopathy.
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Activation of KLF1 at day 10 of the differentiation process when hematopoietic progenitor cells were present, enhanced erythroid commitment and differentiation.
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Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion