ReviewFrontiers in genetics2019
On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.
Review in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 71 citations in OpenAlex.
- Review
- Interchromosomal Translocations and Large Deletions Drive the Evolution of the Outlier Chromosome in the Smallest Photosynthetic Eukaryote.Genome biology and evolution · 2026Article
- Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report.Pediatric radiology · 2026Article
- From survival of irradiated mice to modern molecular insights: a seventy-year journey in radiobiology at the institute of biophysics, Czech academy of sciences.European biophysics journal : EBJ · 2025Review
- Endogenous p21 levels protect genomic stability by suppressing both excess and restrained nascent DNA syntheses.Science advances · 2025Article
- Artificial Intelligence and Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025Review
- In Vitro Effect of Estrogen and Progesterone on Cytogenetic Profile of Uterine Leiomyomas.International journal of molecular sciences · 2024Article
- Navigating Illumina DNA methylation data: biology versus technical artefacts.NAR genomics and bioinformatics · 2024Article
- Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping.Scientific reports · 2024Article
- Chromothripsis: an emerging crossroad from aberrant mitosis to therapeutic opportunities.Journal of molecular cell biology · 2024Review
- Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.Case reports in genetics · 2024Article
- Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.Human genetics · 2023Article
- Metastatic Adrenocortical Carcinoma With Chromothripsis: A Case Report and Literature Review.Cureus · 2023Article
- A View on Uterine Leiomyoma Genesis through the Prism of Genetic, Epigenetic and Cellular Heterogeneity.International journal of molecular sciences · 2023Review
- Chromoanagenesis in the asy1 meiotic mutant of Arabidopsis.G3 (Bethesda, Md.) · 2023Article
- Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model.International journal of molecular sciences · 2023Review
- Chromothripsis is correlated with reduced cytotoxic immune infiltration and diminished responsiveness to checkpoint blockade immunotherapy.Theranostics · 2023Article
- A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report.Molecular cytogenetics · 2022Article
- Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.Journal of human genetics · 2022Article
- Somatic structural variant formation is guided by and influences genome architecture.Genome research · 2022Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.
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