While more data are becoming available on gene activity at different levels of biological organization, our understanding of the underlying biology remains incomplete. Here, we introduce a metabolic efficiency framework that considers highly expressed proteins (HEPs), their length, and biosynthetic costs in terms of the amino acids (AAs) they contain to address the observed balance of expression costs in cells, tissues, and cancer transformation. Notably, the combined set of HEPs in either cells or tissues shows an abundance of large and costly proteins, yet tissues compensate this with short HEPs comprised of economical AAs, indicating a stronger tendency toward mitigating costs.
View Article and Find Full Text PDFMotivation: Knowledge of the specific cell types affected by genetic alterations in rare diseases is crucial for advancing diagnostics and treatments. Despite significant progress, the cell types involved in the majority of rare disease manifestations remain largely unknown. In this study, we integrated scRNA-seq data from non-diseased samples with known genetic disorder genes and phenotypic information to predict the specific cell types disrupted by pathogenic mutations for 482 disease phenotypes.
View Article and Find Full Text PDFThe CoMentG resource contains millions of relationships between terms of biomedical interest obtained from the scientific literature. At the core of the system is a methodology for detecting significant co-mentions of concepts in the entire PubMed corpus. That method was applied to nine sets of terms covering the most important classes of biomedical concepts: diseases, symptoms/clinical signs, molecular functions, biological processes, cellular compartments, anatomic parts, cell types, bacteria and chemical compounds.
View Article and Find Full Text PDFSignaling and detoxification of Reactive Oxygen Species (ROS) are important patho-physiologcal processes. Despite this, we lack comprehensive information on individual cells and cellular structures and functions affected by ROS, which is essential to build quantitative models of the effects of ROS. The thiol groups from cysteines (Cys) in proteins play a major role in redox defense, signaling, and protein function.
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