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 15 of 15 for “"BCL11A"”.
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Investigating the transcriptional regulation of BCL11A in Triple-negative Breast Cancer
… the expression of the transcription regulator BCL11A, to be upregulated specifically in TNBC compared to the other subtypes of breast cancer. In addition, BCL11A has also been experimentally demonstrated to be an oncogene in these aggressive tumours, thus making it an interesting target for new …
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Exploring the role of BCL11A in the oesophagus and mammary gland using in vivo lineage tracing and 3D organoid models.
… of some epithelial tumours to be identified1. BCL11A has been identified as a triple negative breast cancer gene2. However, little is known about its function in the physiological mammary gland. In addition to its role in breast cancer, previous work in the lab has identified BCL11A as a …
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Characterisation of two genetic loci involved in fetal haemoglobin production: BCLIIA and HBSIL-MYB intergenic region
… controlling HbF levels, one in intron 2 of BCL11A gene, and the other, an intergenic region on chromosome 6 between the genes HBS1L and MYB, known as HMIP. Histone modification and RNA polymerase II binding at these loci and at the globin genes themselves were analysed using microarray-based …
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Identificazione e analisi funzionale di fattori regolatori dei geni globinici
… 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 novel technique for a selective enrichment at these target regions, to …
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Study of genetic modifiers of fetal hemoglobin and mechanisms of hydroxyurea-induced γ-globin expression in sickle cell disease
… 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. Similarly, numerous signalling pathways have been implicated in the regulation of γ-globin …
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Determinanti genetici dell’espressione dell’emoglobina HbF
… major loci on the HbF trait (HBG2, rs7482144; BCL11A, rs1427407; HBS1L-MYB, rs9399137), prevalent Sardinian mutations in human Kruppel-like factor 1 (KLF1) recently reported to be responsible for persistence of high levels of fetal hemoglobin (HPFH) and two new predicted polymorphisms (HBE1 …
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The Roles of Krüppel-Like Factor 1 (KLF1) in the Human Fetal Erythroid Compartment.
… 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 KLF1 knockdown but not in cells with low KLF1. KLF2 mRNA …
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Geni modificatori della Beta talassemia e sviluppo di un algoritmo per la predizione della severità clinica
… 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 pathology. In order to achieve this goal we characterized 54 genetic variants at these loci robustly …
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Genomics of sickle cell disease and fetal hemoglobin in African populations
… level have been identified in three major loci; BCL11A, HBS1LMYB, and HBG2. However, these loci jointly explain less than 30% of HbF variability in African sickle cell anemia (SCA) patients as compared to ~50% in African Americans and non-anemic Europeans. Genome-wide association studies have …
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The Role of the Nucleosome Remodeling and Histone Deacetylase (NuRD) Complex in Fetal γ-Globin Expression
… to and positively regulates both the KLF1 and BCL11A genes, which encode transcription factors critical for γ-globin gene silencing during β-type globin gene switching. Remarkably, less than 50% knockdown of Mi2β is sufficient to significantly induce γ-globin gene expression without disrupting …
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Genetic basis of hereditary persistence of fetal haemoglobin
… with the XmnI-HBG2 polymorphism. The SNPs in BCL11A and HBS1L-MYB failed to show statistical correlations with HbF. Heterozygosity for ten novel mutations in the KLF1 gene were indentified in patients with a high HbF indicating that a single altered KLF1 allele can elevate HbF. The …
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Genomic Characterization of Sickle Cell Mouse Models for Therapeutic Genome Editing Applications
… recruitment of the transcriptional repressor, BCL11A. This strategy results in potent HbF induction in human cells and is a promising therapeutic strategy. However, the efficiency of genome editing and the level of HbF induction required to arrest or reverse the pathologies of SCD are …
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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
… correlated with decreased hospitalisation (BCL11A-rs4671393, P = 0·026; HBS1L-MYB-rs28384513, P = 0·01). APOL1 G1/G2 correlated with increased hospitalisation (P = 0·048). A commercial genotyping array platform (PharmacoScan®) with 4627 markers located in 1191 genes was used to investigate …