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Showing 1 to 12 of 12 for “"erythroid cell"”.
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GATA1 Occupancy Site Regulates Erythroid Cell Fitness through Pleiotropic Functions
… how non-coding variants influence cellular function remains a significant challenge in genetics, largely due to limited knowledge about regulatory sequence grammar, complex chromatin environments, and the transcriptional regulatory networks that link genotype to phenotype. In this …
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Regulation of human 5-aminolevulinate synthase 2 expression during erythroid differentiation and its role in x-linked sideroblastic anaemia.
Haem is required for many cellular processes including haemoglobin synthesis in erythroid cells, where the majority of the haem in the body is produced and utilised. Its synthesis requires tight regulation to prevent toxic levels of free haem from arising. 5-Aminolevulinate synthase 2 (ALAS2) is …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… with fetal hemoglobin (HbF) levels, number of F cell and β-thalassemia severity: the HBS1L-MYB intergenic region and the BCL11A gene. In order to understand the functional role of the associated variants at these loci we applied “Genome Wide Chromosome Conformation Capture” (Hi-C), followed by a …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
Sickle Cell Disease (SCD) is a growing global problem with firm roots in sub-Saharan Africa (SSA) representing over 3/4 of the global burden of the disease. The prevalence of the sickle mutation (HbS) in SSA has been amplified by the partial resistance to Plasmodium falciparum malaria, which is …
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The Role of AF9 and AF9-Mediated Protein Interactions in Hematopoiesis and Leukemogenesis
… bone marrow progenitor cells isolated from conditional Af9 knockout mice, we examined in vitro differentiation of hematopoietic progenitor cells to the erythroid, myeloid and megakaryocytic lineages in the presence or absence of Af9. Based on previously published studies, …
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Repression Of Autophagy During Erythroid Development By Gfi1b
<p>Erythropoiesis, the production of red blood cells, is an essential process in mammals. The unique shape and composition of red blood cells requires the removal of cellular organelles and macromolecular structures during the maturation of these cells. This clearance is orchestrated by the …
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Functional Investigation of Genetic Determinants of Red Blood Cell Traits
… thousands of genetic loci associated with blood cell traits. However, the identification and interpretation of candidate causal variants and genes remain challenging. With increasing power to detect genetic associations, many loci reveal multiple statistically independent signals, which - while …
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Determinants of GATA1-mediated gene regulation during erythroid maturation
… is the process through which mature red blood cells arise from progenitor cells. In this context, GATA1 is widely considered to be the master transcription factor for erythropoiesis, controlling the expression of a vast majority of the genes involved in red blood cell maturation. GATA1 …
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Generation and Characterization of a Knock-In Allele of EKLF: Probing the in vivo Role of the Chromatin Remodeling Domain in Definitive Hematopoietic Cells
… zinc finger-encoding transacting factor EKLF, or erythroid Krüppel-like factor, binds key regulatory elements of many erythroid-specific genes, and is essential for definitive erythropoiesis. Mice lacking this factor die of anemia by E15.5 of gestation, failing to activate β-globin gene …
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Genetic programming of human iPSC-derived macrophages provides a tool to study the Erythroblastic Island niche in vitro
… techniques, such as induced pluripotent stem cells (iPSCs), represents a valuable tool in the macrophage field. As a proof of principle, we used a human iPSC-line that was targeted in the safe harbour AAVS1 locus to express the fluorescent protein ZsGreen constitutively (SFCi55-ZsG). We …
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The Roles of Krüppel-like Transcription Factors KLF1 and KLF2 in Mouse Embryonic and Human Fetal Erythropoiesis
… Although the pathophysiology of sickle cell anemia and beta-thalassemia, two of the most common hemoglobinopathies, have been the focus of much research over the last century, patients affected by these diseases still lack a widely applicable and easily available cure. Sickle cell anemia …
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Analysis of Mouse EKLF/KLF2 E9.5 Double Knockout: Yolk Sac Morphology and Embryonic Erythroid Maturation
… with 3 Cys2/His2 zinc fingers that regulate cell differentiation and developmental processes. EKLF is involved in primitive and definitive erythropoiesis; KLF2 is implicated in the development of primitive erythroid and endothelial cells of the vasculature. Using light and electron …