Arterial aneurysms are vascular conditions associated with life-threatening consequences in patients, such as dissection and rupture. Understanding their genetic basis is an evolving field, driven by the robust reporting of genetic variants associated with aneurysms in patients. In this study, we present clinical and genetic data from nine unrelated subjects with arterial aneurysms who were identified to harbor rare variants in the TNXB gene, mainly affecting fibronectin type III (FNIII) domains. The cohort included three female and six male subjects with a mean age of 53.5 years (SD = 14.4). The most frequently affected vascular territory was the thoracic ascending aorta (n = 7). A range of pathogenic impacts was predicted via multiple in silico tools that analyze evolutionary conservation and biochemical properties. Computational protein structure modeling with AlphaFold 3 predicted domain-specific alterations across multiple FNIII regions for four unique missense variants and one in-frame deletion, and premature protein truncation resulting from two frameshift variants. To our knowledge, this study is one of the first and largest to associate TNXB variants with arterial aneurysmal disease. Our findings demonstrate the potential of computational genomics and structural modeling to advance the understanding of extracellular matrix gene alterations in aneurysm pathogenesis.

Increasingly severe crises, such as climate change, water scarcity and environmental pollution, pose significant challenges to global food security and sustainable agricultural development. For efficient and sustainable tomato cultivation management under resource constraints, quantitatively describing the relationship between yield-quality harvest and water-nitrogen application is practically beneficial. Two successive greenhouse experiments with three irrigation levels (1/3 FI, 2/3 FI, and full irrigation (FI)) and four nitrogen fertilizer treatments (0 FN, 1/3 FN, 2/3 FN, and full nitrogen (FN)) were conducted on tomatoes during the whole phenological stage. The tomato evapotranspiration and nitrogen application amount, yield, comprehensive quality, solid–acid ratio, and lycopene content were measured. Based on crop water production functions, three equation forms of water-nitrogen production functions containing 20 models were established and evaluated to predict tomato harvest parameters. The results show that water increased tomato yield while decreasing fruit quality, and the effect of nitrogen was primarily contrary. Water most significantly impacted tomato formation, and the interaction of water and nitrogen changed among different harvest parameters. Tomato yield and quality formation was more sensitive to water and nitrogen at the flowering and fruit maturation stages. Model Singh-2 outweighed other models for yield estimates, with an R² of 0.71 and an RMSE of 0.11. Singh-Log, Singh-sigmoid and Rao-Root models were effective models for comprehensive quality, solid–acid ratio, and lycopene content prediction, with an R² of 0.41, 0.62, and 0.42, and an RMSE of 0.33, 0.50, and 0.16, respectively. Finally, models in the form of f(ET_i)·f(N) were ideal for tomato harvest prevision and are recommended for water and nitrogen management in tomato cultivation.

The COL3A1 gene, encoding the pro-alpha chain of type III collagen, has been implicated in a range of collagen-mediated diseases such as Ehlers–Danlos syndrome and aortic aneurysms. In this report, we present evidence for the first time associating a single nucleotide variant p.P517R in exon 22 of COL3A1 with the development of diffuse coronary aneurysms in a human subject without prior atherosclerotic cardiovascular disease, connective tissue disorder, or phenotypic characteristics diagnostic for vascular Ehlers–Danlos syndrome. Computational modeling of this specific variant in AlphaFold and in silico analyses predict deleterious alterations in the structure and function of the COL3A1 gene product, alpha 1 chain of type III collagen. This novel phenotype-to-genotype correlation should prompt further investigation into the mechanistic basis of this association.