The Undiagnosed Diseases Network uncovered three unrelated individuals with mutations in the gene encoding serine palmitoyltransferase small subunit A (SPTSSA).
Recent findings have unveiled some integrins are associated with Mendelian conditions. In a recent study, researchers directed efforts toward studying integrin-beta 8 (ITGB8) and its association with pathology, especially with neurological pathology, as none of them have been linked to neuropathology to date.
Brain-derived neurotrophic factor (BDNF) is a pleiotropic cytokine that has been shown to be involved in metabolic regulation, development of lung disease and support of hematopoiesis, apart from its known roles in the central nervous system. Its plasma levels during sepsis were investigated in this study.
Based on an analysis of critical transcription factors, researchers have stratified rheumatoid arthritis (RA) into two subtypes where gene expression was driven by RAR-α or TGF-β, respectively. The findings, published in Nature Communications on Oct. 20, 2022, by researchers from the University of California, San Diego, give new insights into factors that affect the treatment response in RA, and could point to novel treatment strategies.
The use of cannabis and childhood trauma have been proposed as environmental factors impacting the risk of psychosis. Recent findings have suggested a link between genetic variants in the cannabinoid receptor 1 gene (CNR1) and cannabis use with the risk of psychosis development.
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