2015年9月28日 · Indeed, as our analysis demonstrates, 41.3% of patients harboring a homozygous risk allele genotype (CC) at the CFH Y402H locus showed good response with anti-VEGF treatment compared with 48.9%...

2020年6月25日 · Polymorphisms in the Complement Factor H (CFH) gene, coding for the Factor H protein (FH), can increase the risk for age-related macular degeneration (AMD). AMD-associated CFH risk variants,...

2019年2月11日 · We show that aged mice expressing the human H402, but not Y402 variant, (i) develop AMD-like symptoms and (ii) display differences in their systemic and ocular lipoprotein levels, but not in their complement activation, after diet. These findings support targeting lipoproteins for the treatment of AMD.

2023年11月8日 · Genetic variants in the gene encoding complement factor H (CFH) have been identified as an AMD susceptibility gene, however, the mechanistic link is debated. Here, we investigated the link...

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2013年12月15日 · Genetic abnormalities within the CFHR gene locus can result in hybrid proteins with affected dimerization or recognition domains which cause defective functions. Here we summarize the recent data about CFHR genes and proteins in order to better understand the role of CFHR proteins in complement activation and in complement associated diseases. 1.

Complement factor H (CFH) is a component of the mammalian complement system, which regulates the alternative pathway of complement activation and protects the host cell from inappropriate complement activation. CFH is a key regulator of innate immunity, and CFH deficiency leads to membranoproliferative glomerulonephritis type II.

2014年9月9日 · Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1–5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3–1 deletion (CFHR3–1∆) as the top signal for copy number variation.

2024年9月18日 · Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

We perform a study to investigate the CFH /CFHRs gene variants and their roles in IgAN with microangiopathy based on a previous genome-wide association study (GWAS). Methods: We re-review microangiopathic lesions in 2055 IgAN patients by light microscopy. And 204 IgAN patients with MA and 1851 IgAN without MA are confirmed in this study.