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 20 of 20 for “"β-globin"”.
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β-Globin Enhancers Regulate Bistable Gene Expression States
… human cells. To examine the role of the human β-globin enhancers in controlling single-cell expression phenotypes, we engineered a haploid locus in K562 cells that fluorescently reports the expression of HBG1. We isolated combinatorial enhancer deletion clones having single-cell expression …
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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
… by E15.5 of gestation, failing to activate β-globin gene transcription, and demonstrating a block in the erythroid differentiation program at the primitive erythroblast stage. In contrast, megakaryocytic progenitors are amplified in EKLF-null embryos, with increased Fli-1 gene expression, a …
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The Roles of Krüppel-Like Factor 1 (KLF1) in the Human Fetal Erythroid Compartment.
… can cause hereditary persistence of fetal hemoglobin. We show that KLF1 positively regulates β-globin and Bcl11A gene expression using KLF1 knockdown in in vitro-differentiated CD34+ human umbilical cord blood cells. -globin expression appears dependent on KLF1; it is increased with modest …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
… have since been associated with fetal hemoglobin (HbF), the disease-ameliorating globin protein, including variants at three principal loci; BCL11A, HBS1L-MYB intergenic polymorphisms (HMIP1/2) and the β-globin gene cluster, which together account for 10 - 20% HbF variance in SCD patients. …
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Genomic Characterization of Sickle Cell Mouse Models for Therapeutic Genome Editing Applications
… disease (SCD) is caused by a mutation of the β-globin gene (HBB), resulting in abnormal hemoglobin molecules that polymerize when deoxygenated, forming “sickle” shaped red blood cells (RBCs). Sickle RBCs lead to anemia, multi-organ damage and pain crises, beginning the first year of life. The …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… two quantitative trait loci outside of the β-globin cluster associated 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 …
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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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Sickle cell anaemia in Cameroon : co-inheritance of α-thalassemia, HBB gene haplotypes, clinical & haematological characterisations
… diagnosis of SCA and for the study of the β-globin (HBB) gene cluster haplotypes. Multiplex Gap-PCR was performed to investigate the 3.7kb and 4.2kb α-thalassemia gene deletions.
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Isothermal Nucleic Acid Assays for the Detection of HIV Drug Resistance and Sickle Cell Disease in Low-Resource Settings
… that results from a point mutation in the β-globin gene which causes red blood cells to sickle. This in turn leads to painful vaso-occlusion and a host of other clinical consequences. The goal of this thesis work was to develop low-cost nucleic acid tests that can improve early detection of …
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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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Different Methodologies to Characterize and Diagnose Sickle Cell Disease in Both Developed and Developing Nations
… become sickle shaped due to a mutation in the β-globin gene encoding the protein hemoglobin. This disease causes reduced oxygen carrying capacity of RBC resulting in painful crisis, hemolytic anemia, and infection susceptibility. SCD affects around 100,000 individuals in USA alone and 14 million …
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Old protein, new perspective : the role of Oct-1 during embryonic development and lymphopoiesis
… penetrance due to a selective reduction of β-globin expression. Cells derived from these embryos show a 40-fold decrease in protein activity and 30-fold decrease in total detectable Oct-i polypeptides as well as a complete lack of octamer-dependent promoter activity in vivo.
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Construction of a COL11A1 Transgene Vector
… of the cDNA was fused with a genomic mouse α-globin fragment to provide a polyadenylation signal. The resulting cDNA/α-globin segment was inserted into p1757, the expression vector to be used for future transgenic studies. p1757 contains a Col2a1 promoter, a β-globin splice sequence and a …
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Characterization of the Interactions Between Kaposi’s Sarcoma-Associated Herpesvirus ORF57 and Its RNA Partners
… also inserted into the 3' UTR of an intronless β-globin reporter to test ORF57 responsiveness in vivo. Our analyses revealed an ORF57 responsive element (ORE) at the 5' end of PAN RNA that we hypothesize functions as a high-affinity binding site to recruit ORF57. Next, we optimized the …
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Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce
… and several informative SNPs spread in the β-globin gene cluster. The data analysis of each cffDNA sample and the inference of the most likely inherited haplotypes were determined by an automated pipeline which firstly constructs the parental haplotypes, using the sequencing data from the …
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Functional analyses of ζ-crystallin binding to the 3'-UTR of glutaminase (GA) mRNA
… LLC-PK1-FBPase+ cells that stably express a β-globin-glutaminase (βG-GA) construct were used to generate stable cell lines that over-express mouse ζ-crystallin. Western analysis established that a 4-fold increase in ζ-crystallin expression was obtained. An adenovirus was also used to …
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Evolution of the ZRS and the Regulation of SHH Expression in the Forelimbs of Bats.
… have different wing shapes) was linked to a β-globin-LacZ reporter construct and used in transgenic mice experiments. A mouse ZRS with bat mutations as well as a wild type mouse ZRS (the control) were also tested. Transgenic results suggest that the bat ZRS has the elements necessary to alter …
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Molecular epidemiology of haemoglobin in the population of Libya and the molecular biology of normal and abnormal globin gene expression
… prevalence of different types of abnormal haemoglobins and thalassaemia in the population of Tripoli, Western and Southern Regions of Libya. 985 newborn babies from Tripoli were tested. Abnormal Hb's were noted in 10 samples (= 1.0%). Some of these were Hb C, Hb S, Hb S-β+ thaI, Hb Setif The aim …
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Caratterizzazione strutturale e funzionale dei sistemi emoglobinici di due specie di pesci (Mugil cephalus e Ophisurus serpens) e di due varianti emoglobiniche umane (HbRoma e HbF-SS-Monserrato)
The hemoglobin is a very important protein that in vertebrates binds reversibly the oxygen and transport it to the tissue through the circulatory sistem. The aim of this study is to contribute to the knowledge of structural-functional relationship of the hemoglobin molecule through structural and …
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Sviluppo di vettori virali per la terapia genica della β−Talassemia
… Gene therapy by the delivery of a regulated globin gene to autologous hematopoietic stem cells is an attractive alternative approach as it is in principle applicable to all thalassemic subjects. Current vectors, althougheffective in correcting thalassemia in murine models still suffer some …