Property Summary

NCBI Gene PubMed Count 70
Grant Count 13
R01 Count 12
Funding $1,688,177.31
PubMed Score 99.77
PubTator Score 149.33

Knowledge Summary

Patent

No data available

Expression

Gene RIF (58)

PMID Text
27196323 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR1]
26163426 These results suggest that the combination of quantitative and qualitative variations in the complement proteins encoded by CFH, CFHR3 and CFHR1 genes is key for the association of these haplotypes with disease.
25979655 Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
25659429 Data indicate that the autoantigenic epitope of complement factor H (CFH) and its homologous site in CFH-related protein-1(CFHR1) are structurally different
25205734 Genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby predispose patients to develop IgA nephropathy.
24557084 we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA).
24333077 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24280833 Factor H and the alternative spliced product FHL-1 are expressed in RPE cells.
24088957 Prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS.
23938460 These results provide evidence for a role of CFH and FHL-1 in cutaneous squamous cell carcinoma progression and identify them as progression markers and potential therapeutic targets.
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AA Sequence

MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRI      1 - 70
TCTEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKC     71 - 140
RSTDTSCVNPPTVQNAHILSRQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGP    141 - 210
PPPIDNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIAL    211 - 280
RWTAKQKLYLRTGESAEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR                        281 - 330
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Text Mined References (71)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
26163426 2015 Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
25979655 2015 Factor H-related proteins determine complement-activating surfaces.
25659429 2015 The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.
25205734 2015 Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
24557084 2014 Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration.
24333077 2014 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24280833 2014 Human complement factor H and factor H-like protein 1 are expressed in human retinal pigment epithelial cells.
24088957 2014 Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children.
23938460 2014 Complement factor H: a biomarker for progression of cutaneous squamous cell carcinoma.
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