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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Chimeric Antigen Receptor (CAR) T cells are among the most promising cancer therapeutics of the past decade. However, immunogenic components, often of murine origin, can elicit anti-CAR immune responses that limit their persistence and efficacy. “Humanization” replaces murine sequences with human counterparts, reducing immunogenicity while preserving function. This article discusses mechanisms of CAR T cell rejection and the c...
Waterfowl Move Less in Heterogeneous and Human‐Populated Landscapes, With Implications for Spread of Avian Influenza VirusesNARA Subscribed
Animal movements contribute to the spread of infectious diseases and are driven in part by environmental conditions. We investigated the links among the environment, animal movement, and infectious disease dynamics in waterfowl, which are among the primary wildlife hosts of avian influenza viruses. By combining telemetry data on 4606 individuals from 26 waterfowl species with data on land cover, weather, and vegetation, we fou...
Quest for Orthologs in the era of Data Deluge and AI: Challenges and Innovations in Orthology Prediction and Data IntegrationNARA Subscribed
The rapid advancement of DNA sequencing technologies and computational algorithms has led to an unprecedented surge in genomic data, driven by several large-scale sequencing projects worldwide. Orthology plays a crucial role in understanding evolutionary patterns of genes and their functions. At the last Quest for Orthologs meeting (Montréal, Canada—2024), we discussed recent advances in orthology inference, with a focus on th...
Investigating impacts of the mycothiazole chemotype as a chemical probe for the study of mitochondrial function and agingNARA Subscribed
Small molecule inhibitors of the mitochondrial electron transport chain (ETC) hold significant promise to provide valuable insights to the field of mitochondrial research and aging biology. In this study, we investigated two molecules: mycothiazole (MTZ) - from the marine sponge C. mycofijiensis and its more stable semisynthetic analog 8- O -acetylmycothiazole (8-OAc) as potent and selective chemical probes based on their high...
Beyond ecosystem modeling: A roadmap to community cyberinfrastructure for ecological data‐model integrationNARA Subscribed
In an era of rapid global change, our ability to understand and predict Earth's natural systems is lagging behind our ability to monitor and measure changes in the biosphere. Bottlenecks to informing models with observations have reduced our capacity to fully exploit the growing volume and variety of available data. Here, we take a critical look at the information infrastructure that connects ecosystem modeling and measurement...
Vulnerability of rangeland beef cattle production to climate‐induced NPP fluctuations in the US Great PlainsNARA Subscribed
The vulnerability of rangeland beef cattle production to increasing climate variability in the US Great Plains has received minimal attention in spite of potentially adverse socioeconomic and ecological consequences. Vulnerability was assessed as the frequency and magnitude of years in which net primary production (NPP) deviated >±25% from mean values, to represent major forage surplus and deficit years, for a historic referen...
Phenological sensitivity to climate change is higher in resident than in migrant bird populations among European cavity breedersNARA Subscribed
Many organisms adjust their reproductive phenology in response to climate change, but phenological sensitivity to temperature may vary between species. For example, resident and migratory birds have vastly different annual cycles, which can cause differential temperature sensitivity at the breeding grounds, and may affect competitive dynamics. Currently, however, adjustment to climate change in resident and migratory birds hav...
Numerous current efforts seek to improve the representation of ecosystem ecology and vegetation demographic processes within Earth System Models ( ESM s). These developments are widely viewed as an important step in developing greater realism in predictions of future ecosystem states and fluxes. Increased realism, however, leads to increased model complexity, with new features raising a suite of ecological questions that requi...
Most species face multiple anthropogenic disruptions. Few studies have quantified the cumulative influence of multiple threats on species of conservation concern, and far fewer have quantified the potential relative value of multiple conservation interventions in light of these threats. We linked spatial distribution and population viability models to explore conservation interventions under projected climate change, urbanizat...