Ever since initial suggestions that instability at common fragile sites (CFSs) could be responsible for chromosome rearrangements in cancers, CFSs and associated genes have been the subject of numerous studies, leading to questions and controversies about their role and importance in cancer. It is now clear that CFSs are not frequently involved in translocations or other cancer-associated recurrent gross chromosome rearrangements. However, recent studies have provided new insights into the mechanisms of CFS instability, their effect on genome instability, and their role in generating focal copy number alterations that affect the genomic landscape of many cancers.
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http://dx.doi.org/10.1038/nrc.2017.52 | DOI Listing |
BMC Public Health
January 2025
KIT Royal Tropical Institute, Amsterdam, The Netherlands.
Background: Access to healthcare is a major challenge in South Sudan, but evidence on the factors influencing health seeking behaviour (HSB) and the magnitude of their effect is limited. This study aims to identify which determinants are associated with seeking care for perceived health needs and with seeking care at private or public healthcare facilities in South Sudan.
Methods: A cross-sectional household survey was conducted in three purposefully-selected states (Central Equatoria, Western Equatoria and Warrap).
Nucleic Acids Res
December 2024
Department of Biology, Tufts University, Suite 4700, 200 Boston Ave, Medford, MA 02155, USA.
Long AT repeat tracts form non-B DNA structures that stall DNA replication and cause chromosomal breakage. AT repeats are abundant in human common fragile sites (CFSs), genomic regions that undergo breakage under replication stress. Using an in vivo yeast model system containing AT-rich repetitive elements from human CFS FRA16D, we find that DNA polymerase zeta (Pol ζ) is required to prevent breakage and subsequent deletions at hairpin and cruciform forming (AT/TA)n sequences, with little to no role at an (A/T)28 repeat or a control non-structure forming sequence.
View Article and Find Full Text PDFJBJS Essent Surg Tech
December 2024
Department of Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut.
Background: For complete disruption of the posterolateral corner (PLC) structures, operative treatment is most commonly advocated, as nonoperative treatment has higher rates of persistent lateral laxity and posttraumatic arthritis. Some studies have shown that acute direct repair results in revision rates upwards of 37% to 40% compared with 6% to 9% for initial reconstruction. In a recent study assessing the outcomes of acute repair of PLC avulsion injuries with 2 to 7 years of follow-up, patients with adequate tissue were shown to have a much lower failure rate than previously documented.
View Article and Find Full Text PDFEnviron Pollut
December 2024
State Key Laboratory of Marine Resource Utilization in South China Sea, Hainan University, Haikou, 570228, China. Electronic address:
FEBS Lett
December 2024
Department of Biochemistry and Molecular Biology, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC, USA.
Genome maintenance is essential for the integrity of the genetic blueprint, of which only a small fraction is transcribed in higher eukaryotes. DNA lesions occurring in the transcribed genome trigger transcription pausing and transcription-coupled DNA repair. There are two major transcription-coupled DNA repair pathways.
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