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 8 of 8 for “"chromothripsis"”.
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Reconstructing Chromothriptic Chromosomes in Oesophageal Adenocarcinomas
… of this contribution is not fully understood. Chromothripsis is a localised catastrophic genome shattering event that can be used to study how the underlying genomic sequence affects this higher order structuring. Since chromothripsis tends to affect only one of the two alleles, in every cell a …
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THE AUTOPHAGIC RECEPTOR P62 MODULATES MICRONUCLEUS STABILITY
… nuclei, may lead to the mutagenic event of chromothripsis. Through ruptures, the micronuclear DNA can be recognized by the cGAS-STING pathway which activates inflammation triggering innate immunity as well as promoting metastasis formation. Considering the defective features associated with …
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Dissecting the genomic and epigenomic alterations underlying glioblastoma
… SVs such as extrachromosomal DNA (ecDNA) and chromothripsis. We discovered underappreciated features of ecDNAs in GBM, including a high prevalence of ecDNAs generated via episomal exclusion, and uncovered the extent by which ecDNAs shape tumoural heterogeneity via seismic amplification and …
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Comprehensive Integrated Genomic and Histopathological Analysis of Paediatric Diffuse Intrinsic Pontine Glioma
… is instead characterized by hypermethylation and chromothripsis of chromosome 2p with high-level amplifications of MYCN and ID2. The Silent subgroup affects younger children, has genomes with minimal genomic instability and fewer mutations. Histologically, DIPG represent a spectrum of grade II-IV …
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Developing Novel Models and Therapeutics for ZFTA-RELA Ependymoma
… the supratentorial region, of which 70% are by chromothripsis of chromosome 11q that results in a gene translocation between the Zinc Finger Translocation Associated (ZFTA) gene and V-Rel Avian Reticuloendotheliosis Viral Oncogene Homolog A (RELA), the principal effector of NF-KB signalling. …
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Vulnerability to G - Quadruplexes in BRCA2 - Null Medulloblastoma: A Protective Role for the PIF1 Helicase
… a complex mutational landscape characterized by chromothripsis in p53-deficient tumors and a high level of somatic mutation in many other cases.We utilized a mouse model of spontaneous medulloblastoma development driven by BRCA2 loss in the central nervous system coupled with global inactivation …
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Patterns of somatic genome rearrangement in human cancer
… their utility for preliminary classification of chromothripsis and other complex phenomena. This comprehensive study of somatic genome rearrangement provides detailed insight into SV patterns and properties across event classes, genome regions, samples, and cancer types. To extrapolate from the …
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Algorithms for analyzing complex structural variations in cancer genomes
Analysis of somatic alterations in cancer genomes has been accelerated through the rapid growth of the quantity, quality and depth of data generated by next-generation sequencing (NGS). Previously most of cancer genome studies were focusing on single nucleotide variations (SNVs), small insertions …