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.
Results
Showing 1 to 8 of 8 for “"SF3B1"”.
-
Identifizierung von Cyclin L2 und des Spleißfaktors SF3B1 als Substrate der Proteinkinase DYRK1A
… were identified. Two of them, cyclin L2 and SF3B1, were chosen for further investigations. Cyclin L2 combines a cyclin domain with an arginine-serine-rich (RS)-domain and was extensively characterised in this work. Alternatively spliced transcripts were identified and their expression in …
-
Mechanisms driving the expansion and progression of splicing factor-mutant clonal haematopoiesis
… Mutations in splicing factor genes (namely SF3B1, SRSF2, and U2AF1) are frequent drivers of CH, particularly in the elderly, and confer a high risk of progression to haematological malignancy. Despite over a decade of research into CH, we still lack an understanding of the mechanisms through …
-
Single-Cell Approaches in Hematologic Cancer Research: Deciphering the lmpact of Splicing Factor Mutations
… de las mutaciones en los factores de splicing SF3B1 y U1 en muestras de pacientes de leucemia linfática crónica. En los tumores portadores de la mutación U1 g.3A>C se detectó una firma de expresión única, marcada por una sobreactivación sostenida de la vía NF-κB, así como una expansión clonal …
-
Evolution and vulnerabilities of somatic copy number alterations in cancer
… CYCLOPS genes and show that the splicing factor SF3B1 is one of them. Biochemical analyses showed that cancer cells harboring hemizygous loss of SF3BI lack a buffer of SF3BI present in cells whose SF3BI locus is intact. These data provide evidence for the utility of developing nononcogene …
-
Development and evaluation of methodologies for analysis of CTC and ctDNA in patients with ovarian carcinoma
… included TP53 (67%), KRAS (11%), PIK3CA (2%) and SF3B1 (2%). A total of 41 gene variants were identified in either pre- or post-NACT samples; 36 (87.8%) of them had variants in TP53 alone, and 3 (7.4%) in KRAS and 1 (2.4%) each for PIK3CA and SF3B1. Undetectable levels of ctDNA post, but not prior …
-
Applications of next-generation technologies in the diagnosis of haematological diseases and cancer
… in key CLL driver genes including TP53, SF3B1, NOTCH1 and ATM. Both clinically relevant CNAs and translocations were detected in the cohort. Four mutation signatures were detected across the CLL genomes and are both associated with, and vary in their prevalence according to, specific …
-
Deciphering the Mechanisms of Heterogeneity within Haematopoiesis in Health, Development & Disease
… erythropoiesis and luspatercept efficacy in SF3B1-mutant erythroid cells – a common myelodysplastic syndrome (MDS) mutation in a component of the spliceosome. Understanding the intricacies of haematopoietic heterogeneity is crucial, given its implications for various diseases and its …
-
Modelling the age-dependent dynamics of clonal haematopoiesis
… In contrast, expansion of clones carrying SRSF2, SF3B1, and IDH2 variants showed no evidence of deceleration, consistent with previous findings. The evolutionary model was adapted to test two potential explanations for this deceleration. Firstly, variation in fitness between individuals with the …