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Mutation in CFH gene is associated with age-related macular degeneration.
CC rs1061170 CFH genotype may be associated with the age-related macular degeneration. Additionally, CC rs1061170 CFH genotype may promote a negative response to anti-VEGF (显示 VEGFA 蛋白) treatment, while patients with TT rs1061170 CFH genotype showed better functional and structural response to anti-VEGF (显示 VEGFA 蛋白) agents.
Our analysis showed stronger contribution of ARMS2 (显示 ARMS2 蛋白) in age-related macular degeneration (AMD (显示 AMD1 蛋白)) with reticular pseudodrusen (RPD) group versus AMD (显示 AMD1 蛋白) without RPD group, in comparison with CFH genotypes.
Study demonstrated that a novel complotype composed of CFB (显示 CFB 蛋白) (rs4151667) in combination with CFB (显示 CFB 蛋白) (rs641153) and CFH(rs800292) is strongly associated with complement activation and age-related macular degeneration status.
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD (显示 AMD1 蛋白).
AMD (显示 AMD1 蛋白) patients had significantly elevated nitrated CFH levels compared to controls (p = 0.0117). These findings strongly suggest that nitrated CFH contributes to AMD (显示 AMD1 蛋白) progression, and is a target for therapeutic intervention.
inhibition of the alternative pathway by factor H, with a concentration equivalent to a high physiological level, strongly reduced C5a levels and decreased proinflammatory cytokine production in human peripheral blood mononuclear cells.
Complement factor H Y402H (rs1061170) and age-related maculopathy susceptibility2 (ARMS2 (显示 ARMS2 蛋白))/LOC387715 A69S (rs10490924) polymorphisms shown to have significant association with age-related macular degeneration (Meta-Analysis).
Regression analysis showed that ARMS2 (显示 ARMS2 蛋白) TT genotype has a statistically significant effect on retinal angiomatous proliferation versus age-related macular degeneration compared to CFH genotypes (P < 0.001).
This study enclosed strong synergistic association of risk genotypes of C3 and CFH Y402H with AMD (显示 AMD1 蛋白). We also revealed synergistic influence of CCL2 (显示 CCL2 蛋白)-2518 and the at-risk genotype of the C3 in AMD (显示 AMD1 蛋白) with an estimated AP = 50.9% (adjusted AP = 24.7%). Present findings show that CCL2 (显示 CCL2 蛋白)-2518 polymorphism is not an innocent bystander (显示 SEPT1 蛋白) in AMD (显示 AMD1 蛋白) susceptibility when combined with the at-risk genotype of C3 (R102G).
this study shows that complement regulatory protein (显示 TGFB1 蛋白) Factor H is a soluble prion (显示 PRNP 蛋白) receptor that potentiates peripheral prion (显示 PRNP 蛋白) pathogenesis
Factor H and Crry (显示 CR1L 蛋白) are critical for regulating complement activation at distinct anatomic sites within the kidney.
VEGF (显示 VEGFA 蛋白) inhibition decreases local CFH and other complement regulators in the eye and kidney through reduced VEGFR2 (显示 KDR 蛋白)/PKC-alpha (显示 PKCa 蛋白)/CREB (显示 CREB1 蛋白) signaling.
environmental factors can drive retinal disease in these mice when linked to complement deficits impairing immune function. Both groups of mice had similar levels of retinal amyloid beta accumulation. Consequently there is no direct link between this and inflammation in Cfh(-/-) mice.
absence of plasma CfH conferred susceptibility to glomerulonephritis
This new understanding of the complicated interactions of CFH in AMD (显示 AMD1 蛋白)-like pathology provides an improved foundation for the development of targeted therapies for AMD (显示 AMD1 蛋白)
data suggest that altered interactions of Cfh with MDA-modified proteins may be relevant in explaining the effects of the Cfh variant.
Cfh and Cfhr2 (显示 CFHR2 蛋白) genes are expressed in the mouse outer retina. Only Cfh mRNA was detected in the retinal pigment epithelium, but no protein.
A spectrum of complement dysregulation was modeled on the APOE4 age related macular degeneration mouse model by crossing these mice to complement factor H knockout (cfh-/-) mice to test the impact of excess complement activation.
Data indicate that co-deficiency of factor H (FH) and MASP-1/MASP-3 (显示 MASP1 蛋白) did not ameliorate either the plasma Complement C3 (显示 C3 蛋白) (C3) activation or glomerular C3 accumulation in FH-deficient mice.
interaction between sialylated Neisseria gonorrhoeae and factor H [factor H]
Results report the molecular cloning and identification of complement factor H and complement factor H-like 1-4 (CFHL1 (显示 CFHR1 蛋白)-4) in Danio rerio.
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
H factor 1 (complement)
, H factor 2 (complement)
, adrenomedullin binding protein
, age-related maculopathy susceptibility 1
, factor H
, factor H-like 1
, complement regulator factor H
, complement factor H
, complement factor H related protein 3A4/5G4
, protein beta-1-H
, complement component factor H
, complement inhibitory factor H
, platelet complement factor H
, complement factor H L homeolog