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 6 of 6 for “"ASXL1"”.
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The Regulation Of Myeloid Inflammatory Responses By Runx1: Roles In Normal And Malignant Hematopoiesis
… by which RUNX1 mutations cooperate with ASXL1 mutations in leukemia, given their significant co-occurrence in AML patients. We demonstrate that concurrent loss of RUNX1 and ASXL1 is not sufficient to induce hematologic malignancy but rather results in a lethal phenotype that is sensitive …
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Orthogonal Comparison of Nuclear and Mitochondrial Clonal Architectures in Hematologic Malignancies
… by nuclear mutations such as DNMT3A, IDH1, and ASXL1 frequently exhibited co-segregating mitochondrial variants, suggesting shared clonal ancestry. Comparison of mtDNAand nDNA-derived phylogenies showed partial concordance, particularly in recent clonal expansions, while older lineages displayed …
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Applications of next-generation technologies in the diagnosis of haematological diseases and cancer
… It was not only found that mutations in TP53 and ASXL1 may be key drivers in the progression of del(5q) MDS into AML but also that 40% of del(5q) patients harboured at least one mutation. A number of mutations were below the limit of detection for Sanger sequencing, and so this study expands our …
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Determinants of clinical phenotype in myeloproliferative neoplasms
… In particular a set of mutations that included ASXL1, SRSF2, U2AF1 and EZH2 was enriched in myelofibrosis and associated with poor outcomes. The JAK2 46/1 haplotype strongly correlated with the presence of 9pUPD and independently with a PV phenotype, demonstrating that the underlying germline …
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Detection, causes and consequences of sex chromosome mosaicism
… potential (CHIP) genes, DNMT3A, TET2 and ASXL1, were negatively associated with LOY. For LOX, rare damaging variants in FBXO10 were identified to increase the risk of LOX. In summary, this thesis shows that the accuracy of estimating LOY/LOX was improved by combining multiple approaches …