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Mussels enhance digestive enzyme activity in preparation for stressful fluctuating environmentsNARA Subscribed
Elevated heat and low phytoplankton abundance are physiologically and ecologically challenging marine organisms of the northeast Pacific, including the mussel Mytilus californianus . During low tide, mussels are exposed to warm air and undergo anaerobic metabolism. Tidal variation coincides with daily fluctuations in food availability requiring flexible response systems (e.g., changes in digestive enzyme activity) to maintain...
Intra-tumoural heterogeneity and cancer cell plasticity in colorectal cancer (CRC) have been key challenges to effective treatment for patients. It has been suggested that a subpopulation of LGR5-expressing cancer stem cells (CSCs) is responsible for driving tumour relapse and therapy resistance in CRC. However, studies have revealed that the LGR5 +ve CSC population is highly sensitive to chemotherapy. It has been hypothesised...
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes ProjectNARA Subscribed
Background Genome sequencing was first offered clinically in the UK through the 100,000 Genomes Project (100KGP). Analysis was restricted to predefined gene panels associated with the patient’s phenotype. However, panels rely on clearly characterised phenotypes and risk missing diagnoses outside of the panel(s) applied. We propose a complementary method to rapidly identify pathogenic variants, including those missed by 100KGP...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
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