Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7780-2_15
Abstract: The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints,… read more here.
Keywords: biological pathways; chromothripsis; double strand; genes proteins ... See more keywords
Chromothripsis Detection and Characterization Using the CTLPScanner Web Server.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7780-2_17
Abstract: Accurate detection of chromothripsis event is important to study the mechanisms underlying this phenomenon. CTLPScanner ( http://cgma.scu.edu.cn/CTLPScanner/ ) is a web-based tool for identification and annotation of chromothripsis-like pattern (CTLP) in genomic array data. In… read more here.
Keywords: ctlpscanner; chromothripsis detection; detection characterization; chromothripsis ... See more keywords
Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo.
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DOI: 10.1007/978-1-4939-7780-2_3
Abstract: The discovery of a new class of massive chromosomal rearrangement, baptized chromothripsis, in different cancers and congenital disorders has deeply modified our understanding on the genesis of complex genomic rearrangements. Several mechanisms, involving abortive apoptosis,… read more here.
Keywords: genesis complex; chromothripsis; chromothripsis genesis; potential role ... See more keywords
Processing-Challenges Generated by Clusters of DNA Double-Strand Breaks Underpin Increased Effectiveness of High-LET Radiation and Chromothripsis.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-13-0593-1_10
Abstract: Whereas most endogenous and exogenous DNA damaging agents typically generate lesions that are relatively isolated and can be repaired easily, ionizing radiation (IR) also induces clustered lesions causing DNA double strand breaks (DSBs). Moreover, forms… read more here.
Keywords: dsb clusters; processing; chromothripsis; high let ... See more keywords
Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.06.009
Abstract: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous hematological disorder defined by morphological, genetic, and clinical features. Patients with AML-MRC often show cytogenetic changes, which are associated with poor prognosis. Straightforward criteria for… read more here.
Keywords: myeloid leukemia; acute myeloid; case; chromothripsis ... See more keywords
APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis
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DOI: 10.1038/s41588-020-0667-5
Abstract: Chromothripsis and kataegis are frequently observed in cancer and may arise from telomere crisis, a period of genome instability during tumorigenesis when depletion of the telomere reserve generates unstable dicentric chromosomes 1 – 5 .… read more here.
Keywords: chromothripsis; chromothripsis kataegis; trex1; telomere crisis ... See more keywords
Mitotic clustering of pulverized chromosomes from micronuclei
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DOI: 10.1101/2022.07.19.500697
Abstract: Complex genome rearrangements can be generated by the catastrophic pulverization of missegregated chromosomes trapped within micronuclei through a process known as chromothripsis^ 1 – 5 . As each chromosome contains a single centromere, it remains… read more here.
Keywords: pulverized chromosomes; chromosomes micronuclei; clustering pulverized; mitotic clustering ... See more keywords
Chromothripsis in Hepatocarcinogenesis: The Role of a Micronuclear Aberration and Polyploidy
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DOI: 10.1134/s1062359018050163
Abstract: In this study, we used the mouse model of chemically induced hepatocarcinogenesis to investigate the chromosomal aberrations in hepatic cells. The model was obtained by combined treatment of mice with Dipin (radiomimetic drug) followed by… read more here.
Keywords: chromothripsis hepatocarcinogenesis; role micronuclear; micronuclear aberration; chromothripsis ... See more keywords
Chromothripsis and Chromoplexy Are Associated with DNA Instability and Adverse Clinical Outcome in Multiple Myeloma
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DOI: 10.1182/blood-2018-99-117359
Abstract: Introduction: Chromothripsis and chromoplexy are gross structural events that deregulate multiple genes simultaneously and may help explain rapid changes in clinical behavior. Previous screening studies in multiple myeloma (MM) using copy number arrays have identified… read more here.
Keywords: consultancy honoraria; corporation employment; chromothripsis; celgene corporation ... See more keywords
Copy Number Signatures Predict Chromothripsis and Poor Clinical Outcome in Newly Diagnosed Multiple Myeloma Patients
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-137281
Abstract: Chromothripsis is emerging as a strong and independent prognostic factor in multiple myeloma (MM), predicting shorter progression-free (PFS) and overall survival (Rustad BioRxiv 2019). Reliable detection requires whole genome sequencing (WGS), with 24% prevalence in… read more here.
Keywords: chromothripsis; consultancy honoraria; consultancy; research funding ... See more keywords