Complement factor H

Seddon JM et al. (2006) CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration.

Coffey PJ et al. (2007) Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction.

Kunert A et al. (2007) Immune evasion of the human pathogen Pseudomonas aeruginosa: elongation factor Tuf is a factor H and plasminogen binding protein.

Stark K et al. (2007) The common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors.

Wegscheider BJ et al. (2007) Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration.

Nicaud V et al. (2007) Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction.

Scott WK et al. (2007) Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration.

Grassi MA et al. (2007) Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Tedeschi-Blok N et al. (2007) Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease.

Johnson PT et al. (2006) Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid.

Li M et al. (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.

Boon CJ et al. (2008) Basal laminar drusen caused by compound heterozygous variants in the CFH gene.

Clark SJ et al. (2006) His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form.

Gotoh N et al. (2006) No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese.

Kardys I et al. (2006) A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.

Zee RY et al. (2006) Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study.

Zareparsi S et al. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration.

Hageman GS et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Klein RJ et al. (2005) Complement factor H polymorphism in age-related macular degeneration.

Edwards AO et al. (2005) Complement factor H polymorphism and age-related macular degeneration.

Haines JL et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration.

Kömpf J et al. (1989) Linkage analyses of human peptidase C (PEPC), human factor H (HF), and coagulation factor XIIIB (F13B).

Ohali M et al. (1998) Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.

Edelsten AD et al. (1978) Familial haemolytic uraemic syndrome.

Rodríguez de Córdoba S et al. (1984) Genetic polymorphism of human factor H (beta 1H).

Kömpf J et al. (1988) Human factor H (beta 1H-globulin): linkage analysis.

Ripoche J et al. (1988) The complete amino acid sequence of human complement factor H.

Day AJ et al. (1988) Sequence polymorphism of human complement factor H.

Rodriguez de Cordoba S et al. (1987) New alleles of C4-binding protein and factor H and further linkage data in the regulator of complement activation (RCA) gene cluster in man.

Kristensen T et al. (1986) Structural analysis of human complement protein H: homology with C4b binding protein, beta 2-glycoprotein I, and the Ba fragment of B2.

Misasi R et al. (1989) Human complement factor H: an additional gene product of 43 kDa isolated from human plasma shows cofactor activity for the cleavage of the third component of complement.

Rodriguez de Cordoba S et al. (1985) Human genes for three complement components that regulate the activation of C3 are tightly linked.

Schwaeble W et al. (1987) Human complement factor H: expression of an additional truncated gene product of 43 kDa in human liver.

Rey-Campos J et al. (1990) Physical linkage of the human genes coding for complement factor H and coagulation factor XIII B subunit.

Nakamura S et al. (1990) Genetic polymorphism of human factor H (beta 1H globulin).

Schneider MC et al. (2009) Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates.

Lukiw WJ et al. (2008) An NF-kappaB-sensitive micro RNA-146a-mediated inflammatory circuit in Alzheimer disease and in stressed human brain cells.

Schwaeble W et al. (1991) Human complement factor H. Tissue specificity in the expression of three different mRNA species.

Ståhl AL et al. (2008) Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation.

Estaller C et al. (1991) Human complement factor H: two factor H proteins are derived from alternatively spliced transcripts.

Hocking HG et al. (2008) Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations.

Vogt BA et al. (1995) Inherited factor H deficiency and collagen type III glomerulopathy.

Licht C et al. (2006) Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).

Abrera-Abeleda MA et al. (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).

Dragon-Durey MA et al. (2004) Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

Hegasy GA et al. (2002) The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion.

Pickering MC et al. (2002) Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H.

None (2000) Factor H and the pathogenesis of renal diseases.

Sánchez-Corral P et al. (2000) Molecular basis for factor H and FHL-1 deficiency in an Italian family.

Ault BH et al. (1997) Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.

Høgåsen K et al. (1995) Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency.

Caprioli J et al. (2003) Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Brai M et al. (1988) Combined homozygous factor H and heterozygous C2 deficiency in an Italian family.

Levy M et al. (1986) H deficiency in two brothers with atypical dense intramembranous deposit disease.

Caprioli J et al. (2006) Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

Warwicker P et al. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Pickering MC et al. (2006) Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice.

Rey-Campos J et al. (1988) A physical map of the human regulator of complement activation gene cluster linking the complement genes CR1, CR2, DAF, and C4BP.

Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.

Weis JH et al. (1987) A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.

Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.

Saunders RE et al. (2006) An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Józsi M et al. (2005) FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.

Zipfel PF et al. (2003) Genetic screening in haemolytic uraemic syndrome.

Neumann HP et al. (2003) Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries.

Manuelian T et al. (2003) Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.

Sánchez-Corral P et al. (2002) Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

None (2002) Cutting edge: localization of the host recognition functions of complement factor H at the carboxyl-terminal: implications for hemolytic uremic syndrome.

Fletcher JC et al. (1997) Refusal of employment or insurance.

Richards A et al. (2001) Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Pérez-Caballero D et al. (2001) Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

Buddles MR et al. (2000) Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Ying L et al. (1999) Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Zipfel PF et al. (1999) The factor H protein family.

Díaz-Guillén MA et al. (1999) A radiation hybrid map of complement factor H and factor H-related genes.

Schmidt BZ et al. (1999) Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency.

Bergeron-Sawitzke J et al. (2009) Multilocus analysis of age-related macular degeneration.

Maller J et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

Noris M et al. (2010) Thrombotic microangiopathy after kidney transplantation.

Rougier N et al. (1998) Human complement factor H deficiency associated with hemolytic uremic syndrome.

Servais A et al. (2007) Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

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