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The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.

DNA Repair (Amst)

January 2025

Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Translational Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil.

Myelodysplastic Neoplasm (MDS) is a cancer associated with aging, often leading to acute myeloid leukemia (AML). One of its hallmarks is hypermethylation, particularly in genes responsible for DNA repair. This study aimed to evaluate the methylation and mutation status of DNA repair genes (single-strand - XPA, XPC, XPG, CSA, CSB and double-strand - ATM, BRCA1, BRCA2, LIG4, RAD51) in MDS across three patient cohorts (Cohort A-56, Cohort B-100, Cohort C-76), using methods like pyrosequencing, real-time PCR, immunohistochemistry, and mutation screening.

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Background: People with cerebral palsy are largely dependent on their caregivers, who are most often members of their family. Caring for people with disabilities can be challenging as both dependents and caregivers face problems of social isolation and stigmatization.

Aim: The aim of this study was to understand the experiences of caregivers of dependents with cerebral palsy in Greece.

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Cold-temperate and Arctic hard bottom coastal ecosystems are dominated by kelp forests, which have a high biomass production and provide important ecosystem services, but are subject to change due to ocean warming. However, the photophysiological response to increasing temperature of ecologically relevant species, such as Laminaria digitata, might depend on the local thermal environment where the population has developed. Therefore, the effects of temperature on growth rate, biochemical composition, maximum quantum yield, photosynthetic quotient and carbon budget of young cultured sporophytes of Laminaria digitata from the Arctic at Spitsbergen (SPT; cultured at 4, 10 and 16 °C) and from the cold-temperate North Sea island of Helgoland (HLG; cultured at 10, 16 and 22 °C) were comparatively analyzed.

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We argue that "processes versus objects" is not a useful dichotomy. There is, instead, substantial theoretical utility in viewing "objects" and "processes" as complementary ways of describing persistence through time, and hence the possibility of observation and manipulation. This way of thinking highlights the role of memory as an essential resource for observation, and makes it clear that "memory" and "time" are also mutually inter-defined, complementary concepts.

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