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Factor I-mediated generation of activated C3 fragments in the circulation is a critical determinant for the development of MPGN2 associated with factor H (show CFH Proteins) deficiency.
Taken together, our data argue that multiple rare and ultra-rare alleles in CFI contribute to AMD (show AMD1 Proteins) pathogenesis; they improve the precision of the assessment of the contribution of CFI to AMD (show AMD1 Proteins)
Case Report: thrombotic microangiopathy with mutations in complement factor I and thrombomodulin (show THBD Proteins).
Our results indicate that CFI polymorphisms are not significantly associated with VKH syndrome.
Patients with advanced atrophic AMD (show AMD1 Proteins) carried these rare variants more frequently than patients with neovascular AMD (show AMD1 Proteins) (11 of 93 [11.8%] vs 40 of 835 [4.8%]; P = .04).
Low FI levels are strongly associated with rare CFI variants and age-related macular degeneration.
A missense variant (p.V412M) in CFI was discovered in two Tunisian Jewish families with early-onset age-related macular degeneration.
Regulatory components of the alternative complement pathway in endothelial cell cytoplasm, factor H (show CFH Proteins) and factor I, are not packaged in Weibel-Palade bodies.
In this study, the odds of AMD (show AMD1 Proteins) were highest in those with deficient vitamin D status and 2 risk alleles for the CFH (show CFH Proteins) and CFI genotypes, suggesting a synergistic effect between vitamin D status and complement cascade protein function.
association between rs10033900 and age-related macular degeneration risk in Han Chinese population
The mutations in the regulators CFH (show CFH Proteins), CFI and MCP (show CD46 Proteins) involve loss-of-function, whereas those for C3 involve gain-of-function.
This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene.
complement factor I
, I factor (complement)
, complement factor 1
, C3B/C4B inactivator
, Konglutinogen-activating factor
, complement component I
, complement control protein factor I
, complement factor I heavy chain
, light chain of factor I
, complement component 1