Complement system in diseases

The paper estimates the carrier frequency and genetic prevalence of Upshaw-Schulman syndrome using gnomAD data and pathogenic variant analysis.

This study shows that complement components C3 and C3aR differentially affect innate anxiety and conditioned fear in mice, linking complement pathways to psychiatric disorder risk.

This study shows that Sez6 family members inhibit C3 convertase activity in both classical and alternative complement pathways.

This paper creates a mouse model expressing human CR1 and CR2 variants to study their role in disease.

The paper genotypes MBL2 gene polymorphisms in four Russian Arctic populations and finds significant differences in allele frequencies compared to Russians and European populations.

This study shows that deficiency of C1QA prevents cerebrovascular damage and white matter loss in obese mice, suggesting a role for the complement cascade in obesity-induced brain pathology.

The paper analyzes complement molecule expression and deposition in human pre-implantation embryos, showing complement activation and defense mechanisms at early stages of development.

The paper predicts 35 novel nsSNPs in ADAMTS13 that may cause TTP using bioinformatics tools.

The paper presents a mathematical model of molecular crypsis by pathogenic fungi using human factor H, finding that pathogen abundance relative to host cells determines the success of crypsis and potential autoreactivity.

The paper identifies cell type-specific complement expression patterns in healthy and diseased retinas across human and murine models, highlighting age-related and disease-induced changes.

The paper identifies CSMD1 variants linked to gonadal function in both sexes and shows that Csmd1 knockout mice have reproductive defects, implicating the complement system in postnatal development.

The paper develops a reduced order mathematical model of the human complement system that is predictive and computationally efficient, showing that multiple therapeutic targets are needed to disrupt complement activation.