ReviewGenes & diseases2025
Ribonucleases in Mendelian disease: Characterization and insight from model organisms.
Review in Genes & diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
Ribonucleases (RNases), essential for RNA metabolism, are implicated in human diseases, including neurodevelopmental, developmental, hematopoietic and other dysfunctions through mutations that disrupt their enzymatic functions. Exploring RNase mutations across organisms offers insights into Mendelian diseases, facilitating molecular dissection of pathological pathways and therapeutic development. By employing model organisms, our analysis underscores the evolutionary conservation of RNase genes, facilitating deeper insights into disease mechanisms. These models are vital for uncovering rare molecular dysfunctions and potential therapeutic targets, demonstrating the effectiveness of integrated research approaches in addressing complex genetic disorders. Drawing from phylogenetic analyses, literature survey, and databases documenting the effects of human disease-causing mutations, the review highlights the significance and advantages of employing model organisms to study specific Mendelian disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.