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Showing 1 to 15 of 15 for “"Fetal hemoglobin"”.
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Genomics of sickle cell disease and fetal hemoglobin in African populations
… therapy is therefore an imperative. Fetal hemoglobin (HbF) has long been recognized to ameliorate SCD severity whereby patients harboring natural genetic variations that lead to the persistence of high HbF levels in their blood tend to live longer with fewer complications. The HbF …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
… 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 together account for 10 - 20% HbF variance in SCD …
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Determinanti genetici dell’espressione dell’emoglobina HbF
Background: Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce beta thalassemia severity. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs7482144; BCL11A, rs1427407; HBS1L-MYB, rs9399137), prevalent Sardinian mutations in human Kruppel-like factor 1 …
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The Roles of Krüppel-Like Factor 1 (KLF1) in the Human Fetal Erythroid Compartment.
… in KLF1 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 …
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Genomic Characterization of Sickle Cell Mouse Models for Therapeutic Genome Editing Applications
… 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 onset of symptoms coincides with the …
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Η ετερογένεια των γ-αλυσίδων σε περιπτώσεις με αυξημένη εμβρυϊκή αιμοσφαιρίνη
The fetal hemoglobin of Hellenic origin patients with a heterozygosity or homozygosity for β-thalassemia, heterozygosity for δβ-thalassemia, Hb Lepore, β-thal/HbS condition and normal newborns, was quantitated by alkali denaturation and further characterized by high pressure liquid chromatography. …
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Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica
… These factors are Alpha-globin genes defects and Fetal Hemoglobin modulators (HBG2:g.- 158C>T polymorphism, HBS1L-MYB intergenic region and the BCL11A gene). Metods In this work we studied an International cohort of 890 Beta Thalassemic patients to build a predictive severity model of the …
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The Role of the Nucleosome Remodeling and Histone Deacetylase (NuRD) Complex in Fetal γ-Globin Expression
<p>An 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 …
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Gene and Protein Profiling of the Preeclamptic Placenta
… PE placenta showed increased gene expression of fetal hemoglobin (Hb). Protein expression analysis confirmed the accumulation of free Hb, particularly the gamma chain was detected in the vascular lumen. Patients with increased resistance in the uterine arteries, expressed as a notch in blood …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… 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 applied “Genome Wide Chromosome …
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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
… 3' gene. This process occurs twice and is termed hemoglobin switching. The exact mechanism(s) of this process have not been fully described. Herein, we describe a role for DNA methylation and methyl binding domain protein 2 in the transcriptional regulation of the human embryonic and fetal beta …
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New predictive and diagnostic biomarkers for preeclampsia
… 3-8% of all pregnancies leading to maternal- and fetal morbidity and mortality. The etiology is still not known in detail. Previous findings have shown an up regulation of the genes coding for fetal hemoglobin (HbF) in preeclamptic placentas. The cell-free HbF protein was shown to be accumulating …
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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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Λειτουργική μελέτη του ρόλου νέων γονιδίων στην αύξηση των επιπέδων της εμβρυικής αιμοσφαιρίνης του ανθρώπου
Οι αιμοσφαιρινοπάθειες, κυρίως, η δρεπανοκυτταρική αναιμία και η β-θαλασσαιμία, αποτελούν τις πιο κοινές μενδελικές ασθένειες, ενώ επίσης θεωρούνται, ακόμη και σήμερα, από τα πιο κρίσιμα προβλήματα υγείας παγκοσμίως. Ο μοριακός χαρακτηρισμός, τόσο της δρεπανοκυτταρικής αναιμίας, όσο και της …
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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
… which is defined as homozygosity for the sickle hemoglobin (HbS). The majority (nearly 75%) of these births occur in sub-Saharan Africa, particularly in two countries: Nigeria, and the Democratic Republic of the Congo where there are poorly resourced healthcare systems. Early diagnosis, …