FH aHUS Mutation Database ©
References
FH Mutation References
Reference Title Citation
Guigonis et al, 2005 Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am J Kidney Dis. 2005 45:588-95
MCP Mutation References
Reference Title Citation
Castelletti et al, 2006 Abstract Combined mutations in Factor H (CFH) and membrane cofactro protein(MCP) in hemolytic uremic syndrome Mol Immunol (2006) 43:122-191
AMD References
Reference Title Citation
Edwards et al 2005 Complement Factor H Polymorphism and Age-Related Macular Degeneration Science 308:421-424
Hageman et al, 2005 A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration Proc Natl Acad Sci U S A. (2005) 102:7227-32.
Haines et al 2005 Complement Factor H Varient Increases the Risk of Age-Related Macular Degeneration Science 308:419-421 (2005)
Klien et al 2005 Complement Factor H Polymorphism in Age-Related Macular Degeneration Science 308:385-389
Skerka et al., 2007 Defective complement control of Factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol. 2007 44:3398-406.
Dat abase References
Reference Title Citation
Saunders & Perkins, 2006 A user's guide to the interactive Web database of factor H-associated hemolytic uremic syndrome. Semin Thromb Hemost. 32:160-8
Database References
Reference Title Citation
Saunders et al, 2006 An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations. Hum Mutat. 2006 27:21-30.
Saunders et al., 2007 The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Fa ctor I mutations with structural models. Hum Mutat. 2007 28:222-34.
FH References
Reference Title Citation
Barlow et al 1992 Solution structure of the fifth repeat of factor H: a second example of the complement control protein module. Biochemistry 31:3626-34 (1992)
Barlow et al 1993 Solution structure of a pair of complement modules by nuclear magnetic resonance. J Mol Biol 232:268-84 (1993)
Blackmore et al 1998 Identification of the second heparin-binding domain in human complement factor H. J Immunol. 160:3342 (1998)
Ferreira et al., 2006 Critical role of the C-terminal domains of factor H in regulating complement activation at cell surfaces.Critical role of the C-terminal domains of f actor H in regulating complement activation at cell surfaces. J Immunol. 2006 177:6308-16.
Ganesh et al 2004 Structure of vaccinia complement protein in complex with heparin and potential implications for complement regulation PNAS 101:8924 (2004)
Giannakis et al 2003 A common site within factro H SCR 7 responsible for binding heparin, C-reactive protein and streptococcal M protein. Eur. J. Immunol 33:962 (2003)
Hellwage et al 2002 Complement C3b/C3d and Cell Surface Polyanions Are Recognized by Overlapping Binding sites on most carboxyl-terminal domain of complement factor H. J. Immuno. 169:6395 (2002)
Jokiranta et al 2000 Each of the three binding sites on complement factor H interacts with a distinct site on C3b. J. Biol. Chem. 275:27657 (2000)
Oppermann et al, 2006 The C-terminus of complement regulator Factor H mediates target recognition: evidence for a compact conformation of the native protein. Clin Exp Im munol. 144:342-52.
Pangburn 2000 Host recognition and target differentiation by factor H, a regulator of the alternative pathway of complement. Immunopharm. 49:149 (2000)
Perkins & Goodship 2002 Molecular Modelling of the C-Terminal Domains of Factor H of Human Complement: A Correlation between Haemolytic Uraemic Syndrome and a predicted heparin binding site J. Mol. Biol. 316:217-224 (2002)
Ram et al 1998 A novel sialic acid binding site on factor H mediates serum resistance of sialylated Neisseria gonorrhoeae. J Exp Med 187:743 (1998)
Sharma & Pangburn 1996 Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis. PNAS 93:10996 (1996)
Zipfel et al 1999 The factor H protein family. Immunopharm. 42:53 (1999)
Zipfel et al 2002 Factor H family proteins: on complement, microbes and human diseases. Biochem Soc. Trans. 30:971-978 (2002)
Zipfel et al, 2006 Complement and diseases: Defective alternative pathway control results in kidney and eye diseases Mol Immunol (2006) 43:97-106
FH Mutation References
Reference Title Citation
Ault 1997 Human Factor H Deficiency J. Biol. Chem. 272:25168-25175 (1997)
Ault et al, 1997 Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J Biol Chem. 1997272 :25168-75.
Buddles et al 2000 Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome Am. J. Hum. Genet. 66:1721-1722 (2000)
Caprioli 2001 The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20 J. Am. Soc. Nephrol. 12:297-307 (2001)
Caprioli 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. Human Mol. Genetics. 12:3385-3395 (2003)
Filler et al, 2004 Challenges in the management of infantile factor H associated hemolytic uremic syndrome. Pediatr Nephrol. (2004) 19:908-11
Guigonis et al 2005 Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am J Kidney Dis. 2005 45:588-95.
Heinen et al 2006 Abstract An HUS associated mutant Factor H protein that lacks domain 20 shows reduced cofactor acitivity on the surface of endothelial cells Mol Immuno l (2006) 43:122-191 Abs 119
Heinen et al, 2006 De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome Hum Mutat. 2006 Mar;27(3):292-3
Heinen et al., 2007 Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells. J Am Soc Nephrol. 2007 8:506-14.
Licht et al 2005 Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15. Am J Kidney Dis. 2005 45:415-21.
Manuelian 2003 Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J. Clin. Invest. 111:1181-1190 (2003)
Meyer et al 1995 Polymorphism of the human factor H-related gene (FHR-1) and of factor H in a west African individual. Immunogenetics 41:335 (1995)
Neumann 2003 Haemolytic uraemic syndrome and mutations of the factor H gene: a registry based study of German speaking countries J. Med. Genet. 40:676-681 (2003)
Noris et al 2005 Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement. J Am Soc Nephrol. 2005 16:1177-83.
Perez-Caballero 2001 Clustering of Missense Mutations in the C-Terminal Region of Factor I in Atypical Hemolytic Uremic Syndrome Am. J. Hum. Genet. 68:478-484 (2001)
Remuzzi et al 2002 Combined kidney and liver transplant for familial haemolytic uraemic syndrome. Lancet 359:1671-72
Richards 2001 Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18-20, a Domain Important for Host Cell Recognition Am. J. Hum. Genet. 68:485-490 (2001)
Rodriguez de Cordoba 2005 The human complement factor H: functional roles, genetic variations and disease associations Mol Immunol 41:355 (2004)
Sanchez-Corral 2002 Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome Am. J. Hum. Genet. 71:1285-1295 (2002)
Sanchez-Corral et al 2000 Molecular basis for factor H and FHL-1 deficiency in an Italian Family Immunogenetics 51:366 (2000)
Vaziri-Sani et al, 2006 Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney Int. 69:981-8.
Warwicker 1998 Genetic studies into inherited and sporadic hemolytic uremic syndrome Kidney Int. 53:836-844 (1998)
Ying et al 1999 Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet.65:1538-46.(1999)
FH Structure References
Reference Title Citation
Aslam et al 2001 Folded-back solution structure of monomeric factor H of human complement by synchrotron X-ray and neutron scattering, analytical ultracentrifugation and c onstrained molecular modelling. J Mol Biol. 309:1117-38. (2001)
Jokiranta et al, 2006 Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome. EMBO J 25:1784-1794.
Norman et al 1991 Three-dimensional structure of a complement control protein module in solution J Mol Biol. 219:717-25. (1991)
FI References
Reference Title Citation
Chamberlain et al, 1998 Possible arrangement of the five domains in human complement factor I as determined by a combination of X-ray and neutron scattering and homology modeling. Biochemistry. 37:13918-29.
FI Mutation References
Reference Title Citation
Fremeaux-Bacchi et al, 2004 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. (2004) 41:84.
Geelen et al., 2007 A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. Pediatr Nephrol. 2007 22:371-5.
Nilsson et al., 2007 A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. Mol Immunol. 2007 44:1835-44.
Vyse et al, 1996 The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996 97:925-33.
HUS References
Reference Title Citation
Bonnardeaux et al 2003 Complement dysregulation in haemolytic uraemic syndrome The Lancet 362:1514-15 (2003)
Caprioli et al, 2005 The hemolytic uremic syndromes. Curr Opin Crit Care. (2005)11:487-492.
Dragon-Durey & Fremeaux-Bacchi 2005 Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin Immunopathol. (2005) 27:359-74
Fremeaux-Bacchi et al 2005 The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evide nce from two independent cohorts. J Med Genet. (2005) 42:852-6
Goicoechea de Jorge et al., 2007 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 200 7 104:240-5.
Kavanagh et al., 2007 The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation. Mol Immunol. 2007 44:3162- 7.
Monteferrante et al., 2007 Abstract Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. Mol Immunol. 2007 44:1704-8
Pangburn 2002 Cutting Edge: Localization of the Host Recognition Functions of Complement Factor H at the Carboxyl-Terminal: Implications for Hemolytic Uremic Syndrome Journal of Immunology 169:4702-6 (2002)
Remuzzi et al 2005 Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation. Am J Transplant. 2005 ;5:1146-50.
Saland et al, 2006 Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. Am J Transplant . 2006 6:1948-52
Servais et al., 2007 Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J Med Genet. 2007 44:193-9.
Taylor 2001 Complement factor H and the haemolytic uraemic syndrome The Lancet 358:1200-202 (2001)
Venables et al., 2006 Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 2006 3:e431
Zipfel 2001 Hemolytic uremic syndrome: how do factor H mutants mediate endothelial damage Trends in Immunology 22:345-348 (2001)
Zipfel et al 2001 Complement factor H and hemolytic uremic syndrome International immunopharmacology 1:461-68 (2001)
Zipfel et al 2003 Genetic screening in haemolytic uraemic syndrome Curr. Opin. Nephr. Hyp. 12:653-57 (2003)
Zipfel et al., 2007 Deletion of Complement Factor H-Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome. PLoS Genet. 2007 3:e41
MCP References
Reference Title Citation
Giannakis et al, 2002 Identification of the streptococcal M protein binding site on membrane cofactor protein (CD46). J Immunol. (2002) 168:4585-92.
Liszewski et al., 1991 Membrane cofactor protein (MCP or CD46): newest member of the regulators of complement activation gene cluster. Annu Rev Immunol. 9:431-55.
MCP Mutation References
Reference Title Citation
Fremeaux-Bacchi et al, 2006 Genetic and Functional Analyses of Membrane Cofactor Protein (CD46) Mutations in Atypical Hemolytic Uremic Syndrome. J Am Soc Nephrol. 2006 In press
Goicoechea de Jorge et al 2005 Abst Evidence for digenic inheritance of atypical hemolytic uremic syndrom in a Spanish pedigree Mol Immunol (2006) 43:122-191 Abs 101
Noris et al, 2003 Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. (2003) 362:1542-7
Richards et al, 2003 Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Nat l Acad Sci U S A. (2003) 100:12966-71
MPGN References
Reference Title Citation
Abrera-Abeleda 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). J Med Genet. 2006 43:582-9
Mutation References
Reference Title Citation
Dragon-Durey 2004 Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genet ic analysis of 16 cases. J. Am. Soc. Nephrol. 15:787-795 (2004)