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Showing 1 to 20 of 32 for “"GLOBIN GENE"”.
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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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The Role of the Nucleosome Remodeling and Histone Deacetylase (NuRD) Complex in Fetal γ-Globin Expression
… understanding of the human fetal to adult hemoglobin switch offers the potential to ameliorate β-type globin gene disorders such as sickle cell anemia and β-thalassemia through activation of the fetal γ-globin gene. Chromatin modifying complexes, including MBD2-NuRD and GATA-1/FOG-1/NuRD play a …
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ΜΕΛΕΤΗ ΤΗΣ ΕΚΦΡΑΣΗΣ ΤΟΥ ΑΝΘΡΩΠΙΝΟΥ ΕΜΒΡΥΟΝΙΚΟΥ Ε-ΣΦΑΙΡΙΝΙΚΟΥ ΓΟΝΙΔΙΟΥ
… IS CENTRAL TO THE STUDY OF REGULATION OF GENE EXPRESSION. THE GLOBIN GENE SYSTEM IS ONE OF THE BEST STUDIED IN THIS DIRECTION. THE ANALYSIS OF TRANSCRIPTION AND RNA PROCESSING OF THE HUMAN EMBRYONIC E-GLOBIN GENE HAS BEEN STUDIED AND IS REPORTED IN THIS THESIS. WE ANALYZED TOTAL CELLULAR …
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The Role of DNA Methylation and Methyl Binding Domain Protein 2 in the Regulation of Human Embryonic and Fetal Beta Type Globin Genes
The genes of the human β-globin locus are located on chromosome 11 in the order of their expression during development: 5' ε, γ, β 3'. During development, silencing of the 5' gene occurs with activation of the immediate 3' gene. This process occurs twice and is termed hemoglobin switching. The …
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Sviluppo di vettori virali per la terapia genica della β−Talassemia
… 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 therapy by the delivery of a regulated globin gene to autologous …
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Purification and Characterization of a Methyl-DNA Binding Protein Complex from Primary Erythroid Cells
The chicken embryonic β-type globin gene, ρ, is silenced on day five of embryogenesis. Concomitant with this silencing is methylation of cytosine residues in the promoter and proximal transcribed region of the gene, which is first detected on day seven and is complete in adult cells. Once …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
… along tropical equatorial Africa. Several genetic variants 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 …
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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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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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Generation and Characterization of a Knock-In Allele of EKLF: Probing the in vivo Role of the Chromatin Remodeling Domain in Definitive Hematopoietic Cells
… 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 transcription, and demonstrating a block in the erythroid differentiation program at the primitive …
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Analysis Of The Mouse p100H Mutation: Implications For Two Disease Related Genes: P and Sox6
My dissertation is focused on the genetics analyses of a mouse mutation, p100H. This mutation is caused by a radiation-induced chromosomal inversion that disrupts both the p gene and Sox6. The human counterparts of these two murine genes are either known to cause human disease (human P gene) or …
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ΕΠΙ ΤΗΣ ΕΝΕΡΓΟΠΟΙΗΣΕΩΣ ΤΗΣ ΕΜΒΡΥΙΚΗΣ ΑΙΜΟΣΦΑΙΡΙΝΗΣ ΕΙΣ ΤΟΝ ΕΝΗΛΙΚΟΝ
… LIFE THERE IS A SWITCH FROM FETAL TO ADULT HEMOGLOBIN PRODUCTION, BUT TRACE AMOUNT OF FETAL GLOBIN EXPRESSION CAN BE DETECTED THROUGHOUT THE ADULT LIFE. KNOWLEDGE OF THE MECHANISMS OF REGULATION OF GLOBIN GENE EXPRESSION IS VERY INTERESTING BECAUSE OF THE ELACIDATION OF THE PHENOMENON AND THE …
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Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, …
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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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ΗΘΙΚΗ ΚΑΙ ΚΟΙΝΩΝΙΚΗ ΠΟΛΙΤΙΚΗ ΥΓΕΙΑΣ. ΗΘΙΚΕΣ ΚΑΙ ΚΟΙΝΩΝΙΚΕΣ ΠΡΩΤΕΡΑΙΟΤΗΤΕΣ ΓΙΑ ΓΕΝΕΤΙΚΕΣ ΥΠΗΡΕΣΙΕΣ ΣΤΗΝ ΕΛΛΑΔΑ
… ARGUMENT IN THIS STUDY IS THAT THE PRIORITY OF GENETIC SERVICES MUST BE CONSIDERED WITHIN THE FRAMEWORK OF AN OVERRIDING IMPERATIVE FOR A GREEK SYSTEM OF HEALTH CARE, THAT PROVIDES FAIR ACCESS TO A DECENT MINIMUM OF MEDICALCARE. THE ETHICAL REASONS FOR THE ALLOCATION OF FUNDS FOR HEALTH CARE, …
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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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Partial structural characterization of the cytoplasmic hemoglobin of Nostoc commune UTEX 584 expressed in Escherichia coli
… in cyanobacterium Nostoc commune revealed a gene encoding for a hemoprotein, known as cyanoglobin. The cyanoglobin gene was isolated and subcloned into Escherichia coli previously. The study presented here encompasses the optimization of growth conditions for the transformed F. coli, with …
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