Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 17 of 17 for “"beta-globin"”.
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The Roles of Krüppel-like Transcription Factors KLF1 and KLF2 in Mouse Embryonic and Human Fetal Erythropoiesis
Hemoglobinopathies are some of the most common monogenic disorders in the world, affecting millions of people and representing a growing burden on health systems worldwide. Although the pathophysiology of sickle cell anemia and beta-thalassemia, two of the most common hemoglobinopathies, have been …
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Expression der Gene ß-Globin, y-Globin und Glycophorin A in myeloischen Kolonien bei Kindern mit juveniler myelomonozytärer Leukämie
… und Southern-Blot auf eine Genexpression von beta-Globin, gamma-Globin und Glycophorin A untersucht. Tatsächlich läßt sich in myeloischen Kolonien von Patienten mit JMML eine Expression der RNA dieser Gene nachweisen. Allerdings läßt sich eine solche Expression auch in myeloischen Kolonien von …
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Sviluppo di vettori virali per la terapia genica della β−Talassemia
Beta−thalassemia major is a severe congenital anemi for which there is presently no curative therapy other than allogeneic hematopoietic stem cell transplantation. This therapeutic option, however, applies only to the minority of thalassemia patients who have an HLA−matched bone marrow donor. Gene …
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Enhancing mRNA stability through the addition of stabilizing untranslated regions
… GFP gene was prepared with four different hemoglobin untranslated regions (UTR's), which are known for their stabilization effects on mRNA. Each mRNA template was created through the digestion and ligation of a cDNA template, reversed transcribed from total RNA, and transfected into …
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Mapping and characterisation of genomic binding sites of the chromatin barrier protein VEZF1
… demarcating the 5' boundary of the chicken β-globin domain. BGP1 binding sites are required for chromatin barrier activity and are associated with protection from de novo DNA methylation. Gene targeting experiments in mice have also revealed crucial roles for Vezf1 in vascular and lymphatic …
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Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica
Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder with a highly variable phenotype, beyond mutations in the causative Beta-globin gene (chr 11). These factors are Alpha-globin genes defects and Fetal Hemoglobin modulators (HBG2:g.- 158C>T …
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Pulmonary hypertension in adolescents with sickle cell disease
… have a similar mutation in at least one of the beta-globin chains of hemoglobin. This results in a change of the hemoglobin to sickle shaped cells when in the deoxygenated state. It is these sickled cells that lead to the symptoms and complications characteristic of sickle cell disease, …
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BAC transgene arrays as a model system for studying large-scale chromatin structure
… a 200 kb human genomic fragment containing the beta-globin locus autonomously targets to the nuclear periphery. Using BAC recombineering, we dissected this 200kb region and identified two genomic regions sufficient to target the BAC transgenes to nuclear periphery. This study represents a first …
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Angiotensin II-mediated Regulation of the Human Angiotensin II Type 1 Receptor Gene
… observed in Northern blot experiments utilizing beta-globin fusion with 3'-UTR that led to stabilization of the chimeric mRNA. Luciferase fusion constructs with both 5'- and 3'-UTRs demonstrated that UTRs are not involved in the Ang II-mediated degradation of hAT1R mRNA. Experiments using …
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Mechanisms and functional significance of nuclear compartmentalization
… including the 6 kb PTR1, target the ~100 kb beta-globin gene cluster and LCR region to the nuclear periphery and confer increased H3K9me3 modification, as assayed both by immunofluorescence and chromatin immunoprecipitation. PTRs within HBB BACs bias a competition between peripheral versus …
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Biological Clocks, Inflammation, and Multiorgan Damage In Sickle Cell Disease
… caused by a genetic mutation on the human beta-globin gene that contributes to erythrocyte sickling, the hallmark of the disease. Previous metabolomics studies have confirmed that elevated sphingosine kinase 1 (SphK1) mediates sphingosine-1-phosphate (S1P) production to promote erythrocyte …
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Functional analysis of insulin-like growth factor binding protein -4 and -6 in transgenic mice
… containing the murine H-2Kb promoter and a human beta-globin splicing cassette was used to construct the transgenes, to obtain ubiquitous expression of the mouse Igfbp4 and Igfbp6 cDNA. Two lines of H-2Kb-mcIGFBP-4 and ten lines of H-2Kb-mcIGFBP-6 transgenic mice were generated. The transgene was …
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Investigating the function of DNA G-quadruplex structures in human enhancers
… for accurate gene regulation at the human β-globin locus. First, a new methodology, viewpoint Hi-C on accessible regulatory DNA (ViCAR), was developed to map 3D chromatin interactions which contain a folded G4 structure for the first time. This allowed for the identification of G4s which may …
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Tie-ing the endothelium: development of an mRNA-based nanotherapeutic to restore microvascular barrier function for the treatment of sepsis-induced multiple organ failure
… cells in vitro. The inclusion of human beta-globin untranslated regions and m1 nucleoside modifications in the EGFP-tagged Tie2 mRNA led to the most robust Tie2-EGFP protein expression by up to 50-fold and 20-fold compared to the endogenous levels in HUVECs and HPMECs, respectively. …
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Pharmacogenomics of sickle cell disease therapeutics: pain and drug metabolism associated gene variants and hydroxyurea-induced post-transcriptional expression of miRNAs
… substitution (c.20T>A, p.Glu6Val) in the beta globin gene on chromosome 11. The prevalence of the disease is high throughout large areas in sub-Saharan Africa, the Mediterranean basin, the Middle East, and India due to the level of protection that the sickle cell trait, provides against …