-
1
-
-
0031970553
-
Genetic studies into inherited and sporadic haemolytic uraemic syndrome
-
CrossRef PubMed
-
Warwicker, P., Goodship, T. H. J., Donne, R. L., Pirson, Y., Nicholls, A., Ward, R. M. and Goodship, J. A. (1998) Genetic studies into inherited and sporadic haemolytic uraemic syndrome. Kidney Int. 53, 836-844 CrossRef PubMed
-
(1998)
Kidney Int.
, vol.53
, pp. 836-844
-
-
Warwicker, P.1
Goodship, T.H.J.2
Donne, R.L.3
Pirson, Y.4
Nicholls, A.5
Ward, R.M.6
Goodship, J.A.7
-
2
-
-
33847237272
-
The interactive Factor H - Atypical haemolytic uraemic syndrome mutation database and website: Update and integration of membrane cofactor protein and Factor I mutations with structural models
-
CrossRef PubMed
-
Saunders, R. E., Abarrategui-Garrido, C., Frémeaux-Bacchi, V., Goicoechea de Jorge, E., Goodship, T. H. J., López Trascasa, M., Noris, M., Ponce Castro, I. M., Remuzzi, G., Rodríguez de Córdoba, S. et al. (2007) The interactive Factor H - atypical haemolytic uraemic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. Hum. Mutat. 28, 222-234 CrossRef PubMed
-
(2007)
Hum. Mutat.
, vol.28
, pp. 222-234
-
-
Saunders, R.E.1
Abarrategui-Garrido, C.2
Frémeaux-Bacchi, V.3
Goicoechea De Jorge, E.4
Goodship, T.H.J.5
López Trascasa, M.6
Noris, M.7
Ponce Castro, I.M.8
Remuzzi, G.9
Rodríguez De Córdoba, S.10
-
3
-
-
84886250055
-
Atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Kavanagh, D., Goodship, T. H. and Richards, A. (2013) Atypical hemolytic uremic syndrome. Semin. Nephrol. 33, 508-530 CrossRef PubMed
-
(2013)
Semin. Nephrol.
, vol.33
, pp. 508-530
-
-
Kavanagh, D.1
Goodship, T.H.2
Richards, A.3
-
4
-
-
84876044818
-
Genetics and outcome of atypical hemolytic uremic syndrome: A nationwide French series comparing children and adults
-
CrossRef PubMed
-
Frémeaux-Bacchi, V., Fakhouri, F., Garnier, A., Bienaime, F., Dragon-Durey, M. A., Ngo, S., Moulin, B., Servais, A., Provot, F., Rostaing, L. et al. (2013) Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin. J. Am. Soc. Nephrol. 8, 554-562 CrossRef PubMed
-
(2013)
Clin. J. Am. Soc. Nephrol.
, vol.8
, pp. 554-562
-
-
Frémeaux-Bacchi, V.1
Fakhouri, F.2
Garnier, A.3
Bienaime, F.4
Dragon-Durey, M.A.5
Ngo, S.6
Moulin, B.7
Servais, A.8
Provot, F.9
Rostaing, L.10
-
5
-
-
29944439131
-
Factor H-associated haemolytic uraemic syndrome: A web database of the structural consequences of disease-associated mutations
-
CrossRef PubMed
-
Saunders, R. E., Goodship, T. H. J., Zipfel, P. F. and Perkins, S. J. (2006) Factor H-associated haemolytic uraemic syndrome: a web database of the structural consequences of disease-associated mutations. Hum. Mutat. 27, 21-30 CrossRef PubMed
-
(2006)
Hum. Mutat.
, vol.27
, pp. 21-30
-
-
Saunders, R.E.1
Goodship, T.H.J.2
Zipfel, P.F.3
Perkins, S.J.4
-
7
-
-
2442433542
-
The human complement factor H: Functional roles, genetic variations and disease associations
-
CrossRef PubMed
-
Rodríguez de Córdoba, S., Esparza-Gordillo, J., Goicoechea de Jorge, E., López-Trascasa, M. and Sánchez-Corral, P. (2004) The human complement factor H: functional roles, genetic variations and disease associations. Mol. Immunol. 41, 355-367 CrossRef PubMed
-
(2004)
Mol. Immunol.
, vol.41
, pp. 355-367
-
-
Rodríguez De Córdoba, S.1
Esparza-Gordillo, J.2
Goicoechea De Jorge, E.3
López-Trascasa, M.4
Sánchez-Corral, P.5
-
8
-
-
0031782378
-
Endothelial cell activation
-
CrossRef PubMed
-
Ballermann, B. J. (1998) Endothelial cell activation. Kidney Int. 53, 1810-1826 CrossRef PubMed
-
(1998)
Kidney Int.
, vol.53
, pp. 1810-1826
-
-
Ballermann, B.J.1
-
9
-
-
0032491212
-
Possible arrangement of the five domains in human complement factor I as determined by a combination of X-ray and neutron scattering and homology modelling
-
CrossRef PubMed
-
Chamberlain, D., Ullman, C. G. and Perkins, S. J. (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 modelling. Biochemistry 37, 13918-13929 CrossRef PubMed
-
(1998)
Biochemistry
, vol.37
, pp. 13918-13929
-
-
Chamberlain, D.1
Ullman, C.G.2
Perkins, S.J.3
-
10
-
-
19444369542
-
Complement factor I: A susceptibility gene for atypical haemolytic uraemic syndrome
-
Frémeaux-Bacchi, V., Dragon-Durey, M. A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B., Loirat, C., Rondeau, E. and Fridman, W. H. (2004) Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J. Mol. Gen. 41, e84
-
(2004)
J. Mol. Gen.
, vol.41
, pp. e84
-
-
Frémeaux-Bacchi, V.1
Dragon-Durey, M.A.2
Blouin, J.3
Vigneau, C.4
Kuypers, D.5
Boudailliez, B.6
Loirat, C.7
Rondeau, E.8
Fridman, W.H.9
-
11
-
-
14644424005
-
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
-
CrossRef
-
Esparza-Gordillo, J., Goicoechea de, J. E., Buil, A., Carreras, B. L., Lopez-Trascasa, M., Sanchez-Corral, P. and Rodriguez de Cordoba, S. (2005) Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum. Mol. Gen. 14, 703-712 CrossRef
-
(2005)
Hum. Mol. Gen.
, vol.14
, pp. 703-712
-
-
Esparza-Gordillo, J.1
De Goicoechea, J.E.2
Buil, A.3
Carreras, B.L.4
Lopez-Trascasa, M.5
Sanchez-Corral, P.6
Rodriguez De Cordoba, S.7
-
12
-
-
27744452766
-
Atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Kavanagh, D., Kemp, E. J., Mayland, E., Winney, R. J., Duffield, J. S., Warwick, G., Richards, A., Ward, R., Goodship, J. A. and Goodship, T. H. (2005) Atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 16, 2150-2155 CrossRef PubMed
-
(2005)
J. Am. Soc. Nephrol.
, vol.16
, pp. 2150-2155
-
-
Kavanagh, D.1
Kemp, E.J.2
Mayland, E.3
Winney, R.J.4
Duffield, J.S.5
Warwick, G.6
Richards, A.7
Ward, R.8
Goodship, J.A.9
Goodship, T.H.10
-
13
-
-
0242331610
-
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
-
CrossRef PubMed
-
Richards, A., Kemp, E. J., Liszewski, M. K., Goodship, J. A., Lampe, A. K., Decorte, R., Muslumanoglu, M. H., Kavukcu, S., Filler, G., Pirson, Y. et al. (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc. Natl. Acad. Sci. U. S. A. 100, 12966-12971 CrossRef PubMed
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, pp. 12966-12971
-
-
Richards, A.1
Kemp, E.J.2
Liszewski, M.K.3
Goodship, J.A.4
Lampe, A.K.5
Decorte, R.6
Muslumanoglu, M.H.7
Kavukcu, S.8
Filler, G.9
Pirson, Y.10
-
14
-
-
0242570482
-
Familial haemolytic uraemic syndrome and an MCP mutation
-
CrossRef PubMed
-
Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F., Gamba, S. and Remuzzi, G. (2003) Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362, 1542-1547 CrossRef PubMed
-
(2003)
Lancet
, vol.362
, pp. 1542-1547
-
-
Noris, M.1
Brioschi, S.2
Caprioli, J.3
Todeschini, M.4
Bresin, E.5
Porrati, F.6
Gamba, S.7
Remuzzi, G.8
-
15
-
-
33747159590
-
Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
-
CrossRef PubMed
-
Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P., Mele, C., Bresin, E., Cassis, L., Gamba, S. et al. (2006) Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108, 1267-1279 CrossRef PubMed
-
(2006)
Blood
, vol.108
, pp. 1267-1279
-
-
Caprioli, J.1
Noris, M.2
Brioschi, S.3
Pianetti, G.4
Castelletti, F.5
Bettinaglio, P.6
Mele, C.7
Bresin, E.8
Cassis, L.9
Gamba, S.10
-
16
-
-
33745812440
-
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Frémeaux-Bacchi, V., Moulton, E. A., Kavanagh, D., Dragon-Durey, M. A., Blouin, J., Caudy, A., Arzouk, N., Cleper, R., Francois, M., Guest, G. et al. (2006) Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 17, 2017-2025 CrossRef PubMed
-
(2006)
J. Am. Soc. Nephrol.
, vol.17
, pp. 2017-2025
-
-
Frémeaux-Bacchi, V.1
Moulton, E.A.2
Kavanagh, D.3
Dragon-Durey, M.A.4
Blouin, J.5
Caudy, A.6
Arzouk, N.7
Cleper, R.8
Francois, M.9
Guest, G.10
-
17
-
-
54049137505
-
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Frémeaux-Bacchi, V., Miller, E. C., Liszewski, M. K., Strain, L., Blouin, J., Brown, A. L., Moghal, N., Kaplan, B. S., Weiss, R. A., Lhotta, K. et al. (2008) Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112, 4948-4952 CrossRef PubMed
-
(2008)
Blood
, vol.112
, pp. 4948-4952
-
-
Frémeaux-Bacchi, V.1
Miller, E.C.2
Liszewski, M.K.3
Strain, L.4
Blouin, J.5
Brown, A.L.6
Moghal, N.7
Kaplan, B.S.8
Weiss, R.A.9
Lhotta, K.10
-
18
-
-
84880767415
-
Complement factor H related proteins (CFHRs)
-
CrossRef PubMed
-
Skerka, C., Chen, Q., Frémeaux-Bacchi, V. and Roumenina, L. T. (2013) Complement factor H related proteins (CFHRs). Mol. Immunol. 56, 170-180 CrossRef PubMed
-
(2013)
Mol. Immunol.
, vol.56
, pp. 170-180
-
-
Skerka, C.1
Chen, Q.2
Frémeaux-Bacchi, V.3
Roumenina, L.T.4
-
19
-
-
84898645797
-
Update on hemolytic uremic syndrome: Diagnostic and therapeutic recommendations
-
CrossRef PubMed
-
Salvadori, M. and Bertoni, E. (2013) Update on hemolytic uremic syndrome: diagnostic and therapeutic recommendations. World J. Nephrol. 2, 56-76 CrossRef PubMed
-
(2013)
World J. Nephrol.
, vol.2
, pp. 56-76
-
-
Salvadori, M.1
Bertoni, E.2
-
20
-
-
84880409661
-
A new interactive web database of mutations in coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B
-
CrossRef PubMed
-
Rallapalli, P. M., Kemball-Cook, G., Tuddenham, E. G., Gomez, K. and Perkins, S. J. (2013) A new interactive web database of mutations in coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B. J. Thromb. Haemost. 11, 1329-1340 CrossRef PubMed
-
(2013)
J. Thromb. Haemost.
, vol.11
, pp. 1329-1340
-
-
Rallapalli, P.M.1
Kemball-Cook, G.2
Tuddenham, E.G.3
Gomez, K.4
Perkins, S.J.5
-
21
-
-
25644452794
-
Structures of complement component C3 provide insights into the function and evolution of immunity
-
CrossRef PubMed
-
Janssen, B. J., Huizinga, E. G., Raaijmakers, H. C., Roos, A., Daha, M. R., Nilsson-Ekdahl, K., Nilsson, B. and Gros, P. (2005) Structures of complement component C3 provide insights into the function and evolution of immunity. Nature 437, 505-511 CrossRef PubMed
-
(2005)
Nature
, vol.437
, pp. 505-511
-
-
Janssen, B.J.1
Huizinga, E.G.2
Raaijmakers, H.C.3
Roos, A.4
Daha, M.R.5
Nilsson-Ekdahl, K.6
Nilsson, B.7
Gros, P.8
-
22
-
-
67651095769
-
Electrostatic interactions contribute to the folded-back conformation of wild-type human Factor H
-
CrossRef PubMed
-
Okemefuna, A. I., Nan, R., Gor, J. and Perkins, S. J. (2009) Electrostatic interactions contribute to the folded-back conformation of wild-type human Factor H. J. Mol. Biol. 391, 98-118 CrossRef PubMed
-
(2009)
J. Mol. Biol.
, vol.391
, pp. 98-118
-
-
Okemefuna, A.I.1
Nan, R.2
Gor, J.3
Perkins, S.J.4
-
23
-
-
79955024221
-
The His402 allotype of complement Factor H show similar self-association to the Tyr402 allotype
-
CrossRef
-
Nan, R., Ward, G., Gavigan, L., Miller, A., Gor, J., McKay, A. R., Lengyel, I. and Perkins, S. J. (2010) The His402 allotype of complement Factor H show similar self-association to the Tyr402 allotype. Mol. Immunol. 47, 2263 CrossRef
-
(2010)
Mol. Immunol.
, vol.47
, pp. 2263
-
-
Nan, R.1
Ward, G.2
Gavigan, L.3
Miller, A.4
Gor, J.5
McKay, A.R.6
Lengyel, I.7
Perkins, S.J.8
-
24
-
-
78149347784
-
Structure of the extracellular portion of CD46 provides insights into its interactions with complement proteins and pathogens
-
CrossRef
-
Persson, B. D., Schmitz, N. B., Santiago, C., Zocher, G., Larvie, M., Scheu, U., Casasnovas, J. M. and Stehle, T. (2010) Structure of the extracellular portion of CD46 provides insights into its interactions with complement proteins and pathogens. PLoS Pathogen 6, e1001122 CrossRef
-
(2010)
PLoS Pathogen
, vol.6
, pp. e1001122
-
-
Persson, B.D.1
Schmitz, N.B.2
Santiago, C.3
Zocher, G.4
Larvie, M.5
Scheu, U.6
Casasnovas, J.M.7
Stehle, T.8
-
25
-
-
79961235437
-
Structural basis for complement factor I control and its disease-associated sequence polymorphisms
-
CrossRef PubMed
-
Roversi, P. I., Johnson, S., Caesar, J. J., McLean, F., Leath, K. J., Tsiftsoglou, S. A., Morgan, B. P., Harris, C. L., Sim, R. B. and Lea, S. M. (2011) Structural basis for complement factor I control and its disease-associated sequence polymorphisms. Proc. Natl. Acad. Sci. U. S. A. 108, 12839-12844 CrossRef PubMed
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 12839-12844
-
-
Roversi, P.I.1
Johnson, S.2
Caesar, J.J.3
McLean, F.4
Leath, K.J.5
Tsiftsoglou, S.A.6
Morgan, B.P.7
Harris, C.L.8
Sim, R.B.9
Lea, S.M.10
-
26
-
-
84897953538
-
Molecular interactions between complement factor H and its heparin and heparan sulphate ligands
-
CrossRef
-
Perkins, S. J., Fung, K.-W. and Khan, S. (2014) Molecular interactions between complement factor H and its heparin and heparan sulphate ligands. Front. Immunol. 5, 126, 1-14 CrossRef
-
(2014)
Front. Immunol.
, vol.5
-
-
Perkins, S.J.1
Fung, K.-W.2
Khan, S.3
-
27
-
-
0036107052
-
Time for a unified system of mutation description and reporting: A review of locus-specific mutation databases
-
CrossRef PubMed
-
Claustres, M., Horaitis, O., Vanevski, M. and Cotton, R. G. (2002) Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res. 12, 680-688 CrossRef PubMed
-
(2002)
Genome Res.
, vol.12
, pp. 680-688
-
-
Claustres, M.1
Horaitis, O.2
Vanevski, M.3
Cotton, R.G.4
-
28
-
-
0242601270
-
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
-
CrossRef
-
Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G., Gamba, S., Brioschi, S., Daina, E., Remuzzi, G. and Noris, M. (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. Hum. Mol. Gen. 12, 3385-3395 CrossRef
-
(2003)
Hum. Mol. Gen.
, vol.12
, pp. 3385-3395
-
-
Caprioli, J.1
Castelletti, F.2
Bucchioni, S.3
Bettinaglio, P.4
Bresin, E.5
Pianetti, G.6
Gamba, S.7
Brioschi, S.8
Daina, E.9
Remuzzi, G.10
Noris, M.11
-
29
-
-
21044453724
-
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
-
CrossRef PubMed
-
Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M. 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. 102, 7227-7232 CrossRef PubMed
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 7227-7232
-
-
Hageman, G.S.1
Anderson, D.H.2
Johnson, L.V.3
Hancox, L.S.4
Taiber, A.J.5
Hardisty, L.I.6
Hageman, J.L.7
Stockman, H.A.8
Borchardt, J.D.9
Gehrs, K.M.10
-
30
-
-
84964316011
-
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration
-
CrossRef
-
Yu, Y., Triebwasser, M. P., Wong, E. K., Schramm, E. C., Thomas, B., Reynolds, R., Mardis, E. R., Atkinson, J. P., Daly, M., Raychaudhuri, S. et al. (2014) Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum. Mol. Gen. 23, 5283-5293 CrossRef
-
(2014)
Hum. Mol. Gen.
, vol.23
, pp. 5283-5293
-
-
Yu, Y.1
Triebwasser, M.P.2
Wong, E.K.3
Schramm, E.C.4
Thomas, B.5
Reynolds, R.6
Mardis, E.R.7
Atkinson, J.P.8
Daly, M.9
Raychaudhuri, S.10
-
31
-
-
84936775679
-
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: Concentration of C3 p.I1157T mutation
-
CrossRef
-
Matsumoto, T., Fan, X., Ishikawa, E., Ito, M., Amano, K., Toyoda, H., Komada, Y., Ohishi, K., Katayama, N., Yoshida, Y. et al. (2014) Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation. Int. J. Hemotol., doi: 10.1007/s12185-014-1655-2 CrossRef
-
(2014)
Int. J. Hemotol.
-
-
Matsumoto, T.1
Fan, X.2
Ishikawa, E.3
Ito, M.4
Amano, K.5
Toyoda, H.6
Komada, Y.7
Ohishi, K.8
Katayama, N.9
Yoshida, Y.10
-
32
-
-
84874610717
-
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
-
CrossRef PubMed
-
Bresin, E., Rurali, E., Caprioli, J., Sanchez-Corral, P., Frémeaux-Bacchi, V., Rodriguez de Cordoba, S., Pinto, S., Goodship, T. H., Alberti, M., Ribes, D. et al. (2013) Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J. Am. Soc. Nephrol. 24, 475-486 CrossRef PubMed
-
(2013)
J. Am. Soc. Nephrol.
, vol.24
, pp. 475-486
-
-
Bresin, E.1
Rurali, E.2
Caprioli, J.3
Sanchez-Corral, P.4
Frémeaux-Bacchi, V.5
Rodriguez De Cordoba, S.6
Pinto, S.7
Goodship, T.H.8
Alberti, M.9
Ribes, D.10
-
33
-
-
1542318912
-
Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genetic analysis of 16 cases
-
CrossRef PubMed
-
Dragon-Durey, M. A., Frémeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Herman Fridman, W. and Weiss, L. (2004) Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J. Am. Soc. Nephrol. 15, 787-795 CrossRef PubMed
-
(2004)
J. Am. Soc. Nephrol.
, vol.15
, pp. 787-795
-
-
Dragon-Durey, M.A.1
Frémeaux-Bacchi, V.2
Loirat, C.3
Blouin, J.4
Niaudet, P.5
Deschenes, G.6
Coppo, P.7
Herman Fridman, W.8
Weiss, L.9
-
34
-
-
84894213708
-
Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479
-
PubMed
-
Chaudhary, P., Hepgur, M., Sarkissian, S., Smith, R. J. and Weitz, I. C. (2014) Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. Blood Transfus. 12, 111-113 PubMed
-
(2014)
Blood Transfus.
, vol.12
, pp. 111-113
-
-
Chaudhary, P.1
Hepgur, M.2
Sarkissian, S.3
Smith, R.J.4
Weitz, I.C.5
-
35
-
-
0035143299
-
The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20
-
PubMed
-
Caprioli, J., Bettinaglio, P., Zipfel, P. F., Amadei, B., Daina, E., Gamba, S., Skerka, C., Marziliano, N., Remuzzi, G. and Noris, M. (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 PubMed
-
(2001)
J. Am. Soc. Nephrol.
, vol.12
, pp. 297-307
-
-
Caprioli, J.1
Bettinaglio, P.2
Zipfel, P.F.3
Amadei, B.4
Daina, E.5
Gamba, S.6
Skerka, C.7
Marziliano, N.8
Remuzzi, G.9
Noris, M.10
-
36
-
-
84904658762
-
Rare complement Factor H variant associated with age-related macular degeneration in the Amish
-
CrossRef
-
Hoffman, J. D., Cooke Bailey, J. N., D'Aoust, L. N., Cade, W., Ayala-Haedo, J., Fuzzell, M. D., Laux, R. A., Adams, L., Reinhart-Mercer, L., Caywood, L. et al. (2014) Rare complement Factor H variant associated with age-related macular degeneration in the Amish. Invest. Ophthal. Vis. Sci. 55, 4455-4460 CrossRef
-
(2014)
Invest. Ophthal. Vis. Sci.
, vol.55
, pp. 4455-4460
-
-
Hoffman, J.D.1
Cooke Bailey, J.N.2
D'Aoust, L.N.3
Cade, W.4
Ayala-Haedo, J.5
Fuzzell, M.D.6
Laux, R.A.7
Adams, L.8
Reinhart-Mercer, L.9
Caywood, L.10
-
37
-
-
0030823285
-
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism
-
CrossRef PubMed
-
Ault, B. H., Schmidt, B. Z., Fowler, N. L., Kashtan, C. E., Ahmed, A. E., Vogt, B. A. and Colten, H. R. (1997) Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J. Biol. Chem. 272, 25168-25175 CrossRef PubMed
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 25168-25175
-
-
Ault, B.H.1
Schmidt, B.Z.2
Fowler, N.L.3
Kashtan, C.E.4
Ahmed, A.E.5
Vogt, B.A.6
Colten, H.R.7
-
38
-
-
40749109434
-
Basal laminar drusen caused by compound heterozygous variants in the CFH gene
-
CrossRef PubMed
-
Boon, C. J., Klevering, B. J., Hoyng, C. B., Zonneveld-Vrieling, M. N., Nabuurs, S. B., Blokland, E., Cremers, F. P. and den Hollander, A. I. (2008) Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Am. J. Hum. Genet. 82, 516-523 CrossRef PubMed
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 516-523
-
-
Boon, C.J.1
Klevering, B.J.2
Hoyng, C.B.3
Zonneveld-Vrieling, M.N.4
Nabuurs, S.B.5
Blokland, E.6
Cremers, F.P.7
Den Hollander, A.I.8
-
39
-
-
0042329931
-
Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries
-
CrossRef PubMed
-
Neumann, H. P., Salzmann, M., Bohnert-Iwan, B., Mannuelian, T., Skerka, C., Lenk, D., Bender, B. U., Cybulla, M., Riegler, P., Königsrainer, A. et al. (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 CrossRef PubMed
-
(2003)
J. Med. Genet.
, vol.40
, pp. 676-681
-
-
Neumann, H.P.1
Salzmann, M.2
Bohnert-Iwan, B.3
Mannuelian, T.4
Skerka, C.5
Lenk, D.6
Bender, B.U.7
Cybulla, M.8
Riegler, P.9
Königsrainer, A.10
-
40
-
-
77952682366
-
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Maga, T. K., Nishimura, C. J., Weaver, A. E., Frees, K. L. and Smith, R. J. (2010) Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum. Mutat. 31, E1445-E1460 CrossRef PubMed
-
(2010)
Hum. Mutat.
, vol.31
, pp. E1445-E1460
-
-
Maga, T.K.1
Nishimura, C.J.2
Weaver, A.E.3
Frees, K.L.4
Smith, R.J.5
-
41
-
-
84860391187
-
Factor H gene variants in Japanese: Its relation to atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Mukai, S., Hidaka, Y., Hirota-Kawadobora, M., Matsuda, K., Fujihara, N., Takezawa, Y., Kubota, S., Koike, K., Honda, T. and Yamauchi, K. (2011) Factor H gene variants in Japanese: its relation to atypical hemolytic uremic syndrome. Mol. Immunol. 49, 48-55 CrossRef PubMed
-
(2011)
Mol. Immunol.
, vol.49
, pp. 48-55
-
-
Mukai, S.1
Hidaka, Y.2
Hirota-Kawadobora, M.3
Matsuda, K.4
Fujihara, N.5
Takezawa, Y.6
Kubota, S.7
Koike, K.8
Honda, T.9
Yamauchi, K.10
-
42
-
-
84884526601
-
The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome
-
CrossRef PubMed
-
Szilágyi, A., Kiss, N., Bereczki, C., Tálosi, G., Rácz, K., Túri, S., Györke, Z., Simon, E., Horváth, E., Kelen, K. et al. (2013) The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome. Nephrol. Dial. Transplant 28, 2237-2245 CrossRef PubMed
-
(2013)
Nephrol. Dial. Transplant
, vol.28
, pp. 2237-2245
-
-
Szilágyi, A.1
Kiss, N.2
Bereczki, C.3
Tálosi, G.4
Rácz, K.5
Túri, S.6
Györke, Z.7
Simon, E.8
Horváth, E.9
Kelen, K.10
-
43
-
-
0037396993
-
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
-
CrossRef
-
Manuelian, T., Hellwage, J., Meri, S., Caprioli, J., Noris, M., Heinen, S., Jozsi, M., Neumann, H. P., Remuzzi, G. and Zipfel, P. F. (2003) Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J. Clin. Investig. 111, 1181-1190 CrossRef
-
(2003)
J. Clin. Investig.
, vol.111
, pp. 1181-1190
-
-
Manuelian, T.1
Hellwage, J.2
Meri, S.3
Caprioli, J.4
Noris, M.5
Heinen, S.6
Jozsi, M.7
Neumann, H.P.8
Remuzzi, G.9
Zipfel, P.F.10
-
44
-
-
33746655453
-
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Heinen, S., Sanchez-Corral, P., Jackson, M. S., Strain, L., Goodship, J. A., Kemp, E. J., Skerka, C., Jokiranta, T. S., Meyers, K., Wagner, E. 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. 27, 292-293 CrossRef PubMed
-
(2006)
Hum. Mutat.
, vol.27
, pp. 292-293
-
-
Heinen, S.1
Sanchez-Corral, P.2
Jackson, M.S.3
Strain, L.4
Goodship, J.A.5
Kemp, E.J.6
Skerka, C.7
Jokiranta, T.S.8
Meyers, K.9
Wagner, E.10
-
45
-
-
0033362094
-
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Ying, L., Katz, Y., Schlesinger, M., Carmi, R., Shalev, H., Haider, N., Beck, G., Sheffield, V. C. and Landau, D. (1999) Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am. J. Hum. Genet. 65, 1538-1546 CrossRef PubMed
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1538-1546
-
-
Ying, L.1
Katz, Y.2
Schlesinger, M.3
Carmi, R.4
Shalev, H.5
Haider, N.6
Beck, G.7
Sheffield, V.C.8
Landau, D.9
-
46
-
-
84862267876
-
Complement factor I deficiency: A not so rare immune defect: Characterization of new mutations and the first large gene deletion
-
CrossRef PubMed
-
Alba-Domínguez, M., López-Lera, A., Garrido, S., Nozal, P., González-Granado, I., Melero, J., Soler-Palacín, P., Cámara, C. and López-Trascasa, M. (2012) Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. Orphanet. J. Rare Dis. 7, 42 CrossRef PubMed
-
(2012)
Orphanet. J. Rare Dis.
, vol.7
, pp. 42
-
-
Alba-Domínguez, M.1
López-Lera, A.2
Garrido, S.3
Nozal, P.4
González-Granado, I.5
Melero, J.6
Soler-Palacín, P.7
Cámara, C.8
López-Trascasa, M.9
-
47
-
-
75749153964
-
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Bienaime, F., Dragon-Durey, M. A., Regnier, C. H., Nilsson, S. C., Kwan, W. H., Blouin, J., Jablonski, M., Renault, N., Rameix-Welti, M. A., Loirat, C. et al. (2010) Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome. Kidney Int. 77, 339-349 CrossRef PubMed
-
(2010)
Kidney Int.
, vol.77
, pp. 339-349
-
-
Bienaime, F.1
Dragon-Durey, M.A.2
Regnier, C.H.3
Nilsson, S.C.4
Kwan, W.H.5
Blouin, J.6
Jablonski, M.7
Renault, N.8
Rameix-Welti, M.A.9
Loirat, C.10
-
48
-
-
84879692071
-
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
-
CrossRef PubMed
-
van de Ven, J. P., Nilsson, S. C., Tan, P. L., Buitendijk, G. H., Ristau, T., Mohlin, F. C., Nabuurs, S. B., Schoenmaker-Koller, F. E., Smailhodzic, D., Campochiaro, P. A. et al. (2013) A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat. Genet. 45, 813-817 CrossRef PubMed
-
(2013)
Nat. Genet.
, vol.45
, pp. 813-817
-
-
Van De Ven, J.P.1
Nilsson, S.C.2
Tan, P.L.3
Buitendijk, G.H.4
Ristau, T.5
Mohlin, F.C.6
Nabuurs, S.B.7
Schoenmaker-Koller, F.E.8
Smailhodzic, D.9
Campochiaro, P.A.10
-
49
-
-
34147180032
-
Primary glomerulonephritis with isolated C3 deposits: A new entity which shares common genetic risk factors with haemolytic uraemic syndrome
-
CrossRef PubMed
-
Servais, A., Frémeaux-Bacchi, V., Lequintrec, M., Salomon, R., Blouin, J., Knebelmann, B., Grunfeld, J. P., Lesavre, P., Noel, L. H. and Fakhouri, F. (2007) Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J. Med. Genet. 44, 193-199 CrossRef PubMed
-
(2007)
J. Med. Genet.
, vol.44
, pp. 193-199
-
-
Servais, A.1
Frémeaux-Bacchi, V.2
Lequintrec, M.3
Salomon, R.4
Blouin, J.5
Knebelmann, B.6
Grunfeld, J.P.7
Lesavre, P.8
Noel, L.H.9
Fakhouri, F.10
-
50
-
-
33751536085
-
A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation
-
CrossRef PubMed
-
Nilsson, S. C., Karpman, D., Vaziri-Sani, F., Kristoffersson, A. C., Salomon, R., Provot, F., Frémeaux-Bacchi, V., Trouw, L. A. and Blom, A. M. (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. 44, 1835-1844 CrossRef PubMed
-
(2007)
Mol. Immunol.
, vol.44
, pp. 1835-1844
-
-
Nilsson, S.C.1
Karpman, D.2
Vaziri-Sani, F.3
Kristoffersson, A.C.4
Salomon, R.5
Provot, F.6
Frémeaux-Bacchi, V.7
Trouw, L.A.8
Blom, A.M.9
-
51
-
-
0030028603
-
The molecular basis of hereditary complement factor I deficiency
-
CrossRef
-
Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E. L., Davies, K. A., Webster, A. D. and Walport, M. J. (1996) The molecular basis of hereditary complement factor I deficiency. J. Clin. Investig. 97, 925-933 CrossRef
-
(1996)
J. Clin. Investig.
, vol.97
, pp. 925-933
-
-
Vyse, T.J.1
Morley, B.J.2
Bartok, I.3
Theodoridis, E.L.4
Davies, K.A.5
Webster, A.D.6
Walport, M.J.7
-
52
-
-
84864419719
-
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding
-
CrossRef
-
Volokhina, E., Westra, D., Xue, X., Gros, P., van de Kar, N. and van den Heuvel, L. (2012) Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding. Ped. Nephrol. 27, 1519-1524 CrossRef
-
(2012)
Ped. Nephrol.
, vol.27
, pp. 1519-1524
-
-
Volokhina, E.1
Westra, D.2
Xue, X.3
Gros, P.4
Van De Kar, N.5
Van Den Heuvel, L.6
-
53
-
-
0025059813
-
Molecular basis of polymorphisms of human complement component C3
-
CrossRef PubMed
-
Botto, M., Fong, K. Y., So, A. K., Koch, C. and Walport, M. J. (1990) Molecular basis of polymorphisms of human complement component C3. J. Exp. Med. 172, 1011-1017 CrossRef PubMed
-
(1990)
J. Exp. Med.
, vol.172
, pp. 1011-1017
-
-
Botto, M.1
Fong, K.Y.2
So, A.K.3
Koch, C.4
Walport, M.J.5
-
54
-
-
34547764305
-
Complement C3 variant and the risk of age-related macular degeneration
-
CrossRef
-
Yates, J. R., Sepp, T., Matharu, B. K., Khan, J. C., Thurlby, D. A., Shahid, H., Clayton, D. G., Hayward, C., Morgan, J., Wright, A. F. et al. (2007) Complement C3 variant and the risk of age-related macular degeneration. New Eng. J. Med. 357, 553-561 CrossRef
-
(2007)
New Eng. J. Med.
, vol.357
, pp. 553-561
-
-
Yates, J.R.1
Sepp, T.2
Matharu, B.K.3
Khan, J.C.4
Thurlby, D.A.5
Shahid, H.6
Clayton, D.G.7
Hayward, C.8
Morgan, J.9
Wright, A.F.10
-
55
-
-
84887043851
-
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration
-
CrossRef PubMed
-
Helgason, H., Sulem, P., Duvvari, M. R., Luo, H., Thorleifsson, G., Stefansson, H., Jonsdottir, I., Masson, G., Gudbjartsson, D. F., Walters, G. B. et al. (2013) A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. Nat. Genet. 45, 1371-1374 CrossRef PubMed
-
(2013)
Nat. Genet.
, vol.45
, pp. 1371-1374
-
-
Helgason, H.1
Sulem, P.2
Duvvari, M.R.3
Luo, H.4
Thorleifsson, G.5
Stefansson, H.6
Jonsdottir, I.7
Masson, G.8
Gudbjartsson, D.F.9
Walters, G.B.10
-
56
-
-
84887118518
-
Identification of a rare coding variant in complement 3 associated with age related macular degeneration
-
CrossRef PubMed
-
Zhan, X., Larson, D. E., Wang, C., Koboldt, D. C., Sergeev, Y. V., Fulton, R. S., Fulton, L. L., Fronick, C. C., Branham, K. E., Bragg-Gresham, J. et al. (2013) Identification of a rare coding variant in complement 3 associated with age related macular degeneration. Nat. Genet. 45, 1375-1379 CrossRef PubMed
-
(2013)
Nat. Genet.
, vol.45
, pp. 1375-1379
-
-
Zhan, X.1
Larson, D.E.2
Wang, C.3
Koboldt, D.C.4
Sergeev, Y.V.5
Fulton, R.S.6
Fulton, L.L.7
Fronick, C.C.8
Branham, K.E.9
Bragg-Gresham, J.10
-
57
-
-
84860711841
-
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
-
CrossRef PubMed
-
Roumenina, L. T., Frimat, M., Miller, E. C., Provot, F., Dragon-Durey, M. A., Bordereau, P., Bigot, S., Hue, C., Satchell, S. C., Mathieson, P. W. et al. (2012) A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function. Blood 119, 4182-4191 CrossRef PubMed
-
(2012)
Blood
, vol.119
, pp. 4182-4191
-
-
Roumenina, L.T.1
Frimat, M.2
Miller, E.C.3
Provot, F.4
Dragon-Durey, M.A.5
Bordereau, P.6
Bigot, S.7
Hue, C.8
Satchell, S.C.9
Mathieson, P.W.10
-
58
-
-
77958587405
-
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
-
CrossRef PubMed
-
Noris, M., Caprioli, J., Bresin, E., Mossali, C., Pianetti, G., Gamba, S., Daina, E., Fenili, C., Castelletti, F., Sorosina, A. et al. (2010) Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin. J. Am. Soc. Nephrol. 5, 1844-1859 CrossRef PubMed
-
(2010)
Clin. J. Am. Soc. Nephrol.
, vol.5
, pp. 1844-1859
-
-
Noris, M.1
Caprioli, J.2
Bresin, E.3
Mossali, C.4
Pianetti, G.5
Gamba, S.6
Daina, E.7
Fenili, C.8
Castelletti, F.9
Sorosina, A.10
-
59
-
-
84908170447
-
Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Sanchez Chinchilla, D., Pinto, S., Hoppe, B., Adragna, M., Lopez, L., Justa Roldan, M. L., Pena, A., Lopez Trascasa, M., Sanchez-Corral, P. and Rodriguez de Cordoba, S. (2014) Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome. Clin. J. Am. Soc. Nephrol. 9, 1611-1619 CrossRef PubMed
-
(2014)
Clin. J. Am. Soc. Nephrol.
, vol.9
, pp. 1611-1619
-
-
Sanchez Chinchilla, D.1
Pinto, S.2
Hoppe, B.3
Adragna, M.4
Lopez, L.5
Justa Roldan, M.L.6
Pena, A.7
Lopez Trascasa, M.8
Sanchez-Corral, P.9
Rodriguez De Cordoba, S.10
-
60
-
-
84872174501
-
Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Fan, X., Yoshida, Y., Honda, S., Matsumoto, M., Sawada, Y., Hattori, M., Hisanaga, S., Hiwa, R., Nakamura, F., Tomomori, M. et al. (2013) Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome. Mol. Immunol. 54, 238-246 CrossRef PubMed
-
(2013)
Mol. Immunol.
, vol.54
, pp. 238-246
-
-
Fan, X.1
Yoshida, Y.2
Honda, S.3
Matsumoto, M.4
Sawada, Y.5
Hattori, M.6
Hisanaga, S.7
Hiwa, R.8
Nakamura, F.9
Tomomori, M.10
-
61
-
-
0028019585
-
An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion
-
PubMed
-
Singer, L., Whitehead, W. T., Akama, H., Katz, Y., Fishelson, Z. and Wetsel, R. A. (1994) An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. J. Biol. Chem. 269, 28494-28499 PubMed
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 28494-28499
-
-
Singer, L.1
Whitehead, W.T.2
Akama, H.3
Katz, Y.4
Fishelson, Z.5
Wetsel, R.A.6
-
62
-
-
79954443076
-
Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation
-
CrossRef PubMed
-
Al-Akash, S. I., Almond, P. S., Savell, Jr, V. H., Gharaybeh, S. I. and Hogue, C. (2011) Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation. Pediatr. Nephrol. 26, 613-619 CrossRef PubMed
-
(2011)
Pediatr. Nephrol.
, vol.26
, pp. 613-619
-
-
Al-Akash, S.I.1
Almond, P.S.2
Savell, V.H.3
Gharaybeh, S.I.4
Hogue, C.5
-
63
-
-
70349923265
-
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure
-
CrossRef PubMed
-
Lhotta, K., Janecke, A. R., Scheiring, J., Petzlberger, B., Giner, T., Fally, V., Wurzner, R., Zimmerhackl, L. B., Mayer, G. and Frémeaux-Bacchi, V. (2009) A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure. Clin. J. Am. Soc. Nephrol. 4, 1356-1362 CrossRef PubMed
-
(2009)
Clin. J. Am. Soc. Nephrol.
, vol.4
, pp. 1356-1362
-
-
Lhotta, K.1
Janecke, A.R.2
Scheiring, J.3
Petzlberger, B.4
Giner, T.5
Fally, V.6
Wurzner, R.7
Zimmerhackl, L.B.8
Mayer, G.9
Frémeaux-Bacchi, V.10
-
64
-
-
75649133611
-
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Moore, I., Strain, L., Pappworth, I., Kavanagh, D., Barlow, P. N., Herbert, A. P., Schmidt, C. Q., Staniforth, S. J., Holmes, L. V., Ward, R. et al. (2010) Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 115, 379-387 CrossRef PubMed
-
(2010)
Blood
, vol.115
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
Kavanagh, D.4
Barlow, P.N.5
Herbert, A.P.6
Schmidt, C.Q.7
Staniforth, S.J.8
Holmes, L.V.9
Ward, R.10
-
65
-
-
84863881370
-
Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis
-
CrossRef PubMed
-
Brackman, D., Sartz, L., Leh, S., Kristoffersson, A. C., Bjerre, A., Tati, R., Frémeaux-Bacchi, V. and Karpman, D. (2011) Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis. Nephrol. Dial. Transplant. 26, 3399-3403 CrossRef PubMed
-
(2011)
Nephrol. Dial. Transplant.
, vol.26
, pp. 3399-3403
-
-
Brackman, D.1
Sartz, L.2
Leh, S.3
Kristoffersson, A.C.4
Bjerre, A.5
Tati, R.6
Frémeaux-Bacchi, V.7
Karpman, D.8
-
66
-
-
0024308747
-
The difference between human C3F and C3S results from a single amino acid change from an asparagine to an aspartate residue at position 1216 on the alpha chain of the complement component, C3
-
PubMed
-
Poznansky, M. C., Clissold, P. M. and Lachmann, P. J. (1989) The difference between human C3F and C3S results from a single amino acid change from an asparagine to an aspartate residue at position 1216 on the alpha chain of the complement component, C3. J. Immunol. 143, 3860-3862 PubMed
-
(1989)
J. Immunol.
, vol.143
, pp. 3860-3862
-
-
Poznansky, M.C.1
Clissold, P.M.2
Lachmann, P.J.3
-
67
-
-
0011826724
-
A novel C3 allotype C3′F02′has an amino acid substitution that may inhibit iC3b synthesis and cause C3-hypocomplementemia
-
Watanabe, Y., Matsui, N., Yan, K., Nishimukai, H., Tokunaga, K., Juji, T., Kobayashi, N. and Kohsaka, T. (1993) A novel C3 allotype C3′F02′has an amino acid substitution that may inhibit iC3b synthesis and cause C3-hypocomplementemia. Mol. Immunol. 30, 62
-
(1993)
Mol. Immunol.
, vol.30
, pp. 62
-
-
Watanabe, Y.1
Matsui, N.2
Yan, K.3
Nishimukai, H.4
Tokunaga, K.5
Juji, T.6
Kobayashi, N.7
Kohsaka, T.8
-
68
-
-
84899699672
-
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration
-
CrossRef PubMed
-
Duvvari, M. R., Paun, C. C., Buitendijk, G. H. S., Saksens, N. T. M., Volokhina, E. B., Ristau, T., Schoenmaker-Koller, F. E., van de Ven, J. P. H., Groenewoud, J. M. M., van den Heuvel, L. P. W. J. et al. (2014) Analysis of rare variants in the C3 gene in patients with age-related macular degeneration. PLoS ONE 9, e94165 CrossRef PubMed
-
(2014)
PLoS ONE
, vol.9
, pp. e94165
-
-
Duvvari, M.R.1
Paun, C.C.2
Buitendijk, G.H.S.3
Saksens, N.T.M.4
Volokhina, E.B.5
Ristau, T.6
Schoenmaker-Koller, F.E.7
Van De Ven, J.P.H.8
Groenewoud, J.M.M.9
Van Den Heuvel, L.P.W.J.10
-
69
-
-
84856863401
-
A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Sartz, L., Olin, A. I., Kristoffersson, A. C., Stahl, A. L., Johansson, M. E., Westman, K., Frémeaux-Bacchi, V., Nilsson-Ekdahl, K. and Karpman, D. (2012) A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. J. Immunol. 188, 2030-2037 CrossRef PubMed
-
(2012)
J. Immunol.
, vol.188
, pp. 2030-2037
-
-
Sartz, L.1
Olin, A.I.2
Kristoffersson, A.C.3
Stahl, A.L.4
Johansson, M.E.5
Westman, K.6
Frémeaux-Bacchi, V.7
Nilsson-Ekdahl, K.8
Karpman, D.9
-
70
-
-
84901658759
-
Macrovascular involvement in a child with atypical hemolytic uremic syndrome
-
CrossRef PubMed
-
Azukaitis, K., Loirat, C., Malina, M., Adomaitiene, I. and Jankauskiene, A. (2014) Macrovascular involvement in a child with atypical hemolytic uremic syndrome. Pediatr. Nephrol. 29, 1273-1277 CrossRef PubMed
-
(2014)
Pediatr. Nephrol.
, vol.29
, pp. 1273-1277
-
-
Azukaitis, K.1
Loirat, C.2
Malina, M.3
Adomaitiene, I.4
Jankauskiene, A.5
-
71
-
-
0020997912
-
Dictionary of protein secondary structure: Pattern recognition of hydrogen-bonded and geometrical features
-
CrossRef PubMed
-
Kabsch, W. and Sander, C. (1983) Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features. Biopolymers 22, 2577-2637 CrossRef PubMed
-
(1983)
Biopolymers
, vol.22
, pp. 2577-2637
-
-
Kabsch, W.1
Sander, C.2
-
72
-
-
67649230210
-
Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
-
CrossRef PubMed
-
Wu, J., Wu, Y., Ricklin, D., Janssen, B. J. C., Lambris, J. D. and Gros, P. (2009) Structure of complement fragment C3b-factor H and implications for host protection by complement regulators. Nat. Immunol. 10, 728-734 CrossRef PubMed
-
(2009)
Nat. Immunol.
, vol.10
, pp. 728-734
-
-
Wu, J.1
Wu, Y.2
Ricklin, D.3
Janssen, B.J.C.4
Lambris, J.D.5
Gros, P.6
-
73
-
-
34948910047
-
Structural basis for complement factor H - Linked age-related macular degeneration
-
CrossRef PubMed
-
Prosser, B. E., Johnson, S., Roversi, P., Herbert, A. P., Blaum, B. S., Tyrrell, J., Jowitt, T. A., Clark, S. J., Tarelli, E., Uhrin, D. et al. (2007) Structural basis for complement factor H - linked age-related macular degeneration. J. Exp. Med. 204, 2277-2283 CrossRef PubMed
-
(2007)
J. Exp. Med.
, vol.204
, pp. 2277-2283
-
-
Prosser, B.E.1
Johnson, S.2
Roversi, P.3
Herbert, A.P.4
Blaum, B.S.5
Tyrrell, J.6
Jowitt, T.A.7
Clark, S.J.8
Tarelli, E.9
Uhrin, D.10
-
74
-
-
84869215409
-
Solution structure of CCP modules 10-12 illuminates functional architecture of the complement regulator, factor H
-
CrossRef PubMed
-
Makou, E., Mertens, H. D., Maciejewski, M., Soares, D. C., Matis, I., Schmidt, C. Q., Herbert, A. P., Svergun, D. I. and Barlow, P. N. (2012) Solution structure of CCP modules 10-12 illuminates functional architecture of the complement regulator, factor H. J. Mol. Biol. 424, 295-312 CrossRef PubMed
-
(2012)
J. Mol. Biol.
, vol.424
, pp. 295-312
-
-
Makou, E.1
Mertens, H.D.2
Maciejewski, M.3
Soares, D.C.4
Matis, I.5
Schmidt, C.Q.6
Herbert, A.P.7
Svergun, D.I.8
Barlow, P.N.9
-
75
-
-
70450225410
-
The central portion of Factor H (Modules 10-15) is compact and contains a structurally deviant CCP module
-
CrossRef PubMed
-
Schmidt, C. Q., Herbert, A. P., Mertens, H. D. T., Guariento, M., Soares, D. C., Uhrin, D., Rowe, A. J., Svergun, D. I. and Barlow, P. N. (2010) The central portion of Factor H (Modules 10-15) is compact and contains a structurally deviant CCP module. J. Mol. Biol. 395, 105-122 CrossRef PubMed
-
(2010)
J. Mol. Biol.
, vol.395
, pp. 105-122
-
-
Schmidt, C.Q.1
Herbert, A.P.2
Mertens, H.D.T.3
Guariento, M.4
Soares, D.C.5
Uhrin, D.6
Rowe, A.J.7
Svergun, D.I.8
Barlow, P.N.9
-
76
-
-
0026742163
-
Solution structure of the fifth repeat of factor H: A second example of the complement control protein module
-
CrossRef PubMed
-
Barlow, P. N., Norman, D. G., Steinkasserer, A., Horne, T. J., Pearce, J., Driscoll, P. C., Sim, R. B. and Campbell, I. D. (1992) Solution structure of the fifth repeat of factor H: a second example of the complement control protein module. Biochemistry 31, 3626-3634 CrossRef PubMed
-
(1992)
Biochemistry
, vol.31
, pp. 3626-3634
-
-
Barlow, P.N.1
Norman, D.G.2
Steinkasserer, A.3
Horne, T.J.4
Pearce, J.5
Driscoll, P.C.6
Sim, R.B.7
Campbell, I.D.8
-
77
-
-
0027216772
-
Solution structure of a pair of complement modules by nuclear magnetic resonance
-
CrossRef PubMed
-
Barlow, P. N., Steinkasserer, A., Norman, D. G., Kieffer, B., Wiles, A. P., Sim, R. B. and Campbell, I. D. (1993) Solution structure of a pair of complement modules by nuclear magnetic resonance. J. Mol. Biol. 232, 268-284 CrossRef PubMed
-
(1993)
J. Mol. Biol.
, vol.232
, pp. 268-284
-
-
Barlow, P.N.1
Steinkasserer, A.2
Norman, D.G.3
Kieffer, B.4
Wiles, A.P.5
Sim, R.B.6
Campbell, I.D.7
-
78
-
-
84857536091
-
Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)
-
CrossRef PubMed
-
Morgan, H. P., Mertens, H. D., Guariento, M., Schmidt, C. Q., Soares, D. C., Svergun, D. I., Herbert, A. P., Barlow, P. N. and Hannan, J. P. (2012) Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH). PLoS ONE 7, e32187 CrossRef PubMed
-
(2012)
PLoS ONE
, vol.7
, pp. e32187
-
-
Morgan, H.P.1
Mertens, H.D.2
Guariento, M.3
Schmidt, C.Q.4
Soares, D.C.5
Svergun, D.I.6
Herbert, A.P.7
Barlow, P.N.8
Hannan, J.P.9
-
79
-
-
33646164894
-
Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome
-
CrossRef PubMed
-
Jokiranta, T. S., Jaakola, V. P., Lehtinen, M. J., Parepalo, M., Meri, S. and Goldman, A. (2006) Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome. EMBO J. 25, 1784-1794 CrossRef PubMed
-
(2006)
EMBO J.
, vol.25
, pp. 1784-1794
-
-
Jokiranta, T.S.1
Jaakola, V.P.2
Lehtinen, M.J.3
Parepalo, M.4
Meri, S.5
Goldman, A.6
-
80
-
-
0033151839
-
Crystal structure of two CD46 domains reveals an extended measles virus-binding surface
-
CrossRef PubMed
-
Casasnovas, J. M., Larvie, M. and Stehle, T. (1999) Crystal structure of two CD46 domains reveals an extended measles virus-binding surface. EMBO J. 18, 2911-2922 CrossRef PubMed
-
(1999)
EMBO J.
, vol.18
, pp. 2911-2922
-
-
Casasnovas, J.M.1
Larvie, M.2
Stehle, T.3
-
81
-
-
0023916526
-
A study of the structure of human complement component Factor H by Fourier transform infrared spectroscopy and secondary structure averaging methods
-
CrossRef PubMed
-
Perkins, S. J., Haris, P. I., Sim, R. B. and Chapman, D. (1988) A study of the structure of human complement component Factor H by Fourier transform infrared spectroscopy and secondary structure averaging methods. Biochemistry 27, 4004-4012 CrossRef PubMed
-
(1988)
Biochemistry
, vol.27
, pp. 4004-4012
-
-
Perkins, S.J.1
Haris, P.I.2
Sim, R.B.3
Chapman, D.4
-
82
-
-
84862183665
-
Bivalent and co-operative binding of complement Factor H to heparan sulphate and heparin
-
CrossRef PubMed
-
Khan, S., Nan, R., Gor, J., Mulloy, B. and Perkins, S. J. (2012) Bivalent and co-operative binding of complement Factor H to heparan sulphate and heparin. Biochem. J. 444, 417-428 CrossRef PubMed
-
(2012)
Biochem. J.
, vol.444
, pp. 417-428
-
-
Khan, S.1
Nan, R.2
Gor, J.3
Mulloy, B.4
Perkins, S.J.5
-
83
-
-
84855282981
-
Complement factor H-ligand interactions: Self-association, multivalency and dissociation constants
-
CrossRef PubMed
-
Perkins, S. J., Nan, R., Li, K., Khan, S. and Miller, A. (2012) Complement factor H-ligand interactions: self-association, multivalency and dissociation constants. Immunobiology 217, 281-297 CrossRef PubMed
-
(2012)
Immunobiology
, vol.217
, pp. 281-297
-
-
Perkins, S.J.1
Nan, R.2
Li, K.3
Khan, S.4
Miller, A.5
-
84
-
-
79952612300
-
Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement
-
CrossRef PubMed
-
Kajander, T., Lehtinen, M. J., Hyvärinen, S., Bhattacharjee, A., Leung, E., Isenman, D. E., Meri, S., Goldman, A. and Jokiranta, T. S. (2011) Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement. Proc. Natl. Acad. Sci. U. S. A. 108, 2897-2902 CrossRef PubMed
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 2897-2902
-
-
Kajander, T.1
Lehtinen, M.J.2
Hyvärinen, S.3
Bhattacharjee, A.4
Leung, E.5
Isenman, D.E.6
Meri, S.7
Goldman, A.8
Jokiranta, T.S.9
-
85
-
-
79953772478
-
Structural basis for engagement by complement factor H of C3b on a self surface
-
CrossRef PubMed
-
Morgan, H. P., Schmidt, C. Q., Guariento, M., Blaum, B. S., Gillespie, D., Herbert, A. P., Kavanagh, D., Mertens, H. D., Svergun, D. I., Johansson, C. M. et al. (2011) Structural basis for engagement by complement factor H of C3b on a self surface. Nat. Struct. Mol. Biol. 18, 463-470 CrossRef PubMed
-
(2011)
Nat. Struct. Mol. Biol.
, vol.18
, pp. 463-470
-
-
Morgan, H.P.1
Schmidt, C.Q.2
Guariento, M.3
Blaum, B.S.4
Gillespie, D.5
Herbert, A.P.6
Kavanagh, D.7
Mertens, H.D.8
Svergun, D.I.9
Johansson, C.M.10
-
86
-
-
74049141427
-
Complement Factor H binds at two independent sites to C-reactive protein in acute-phase concentrations
-
CrossRef PubMed
-
Okemefuna, A. I., Nan, R., Miller, A., Gor, J. and Perkins, S. J. (2010) Complement Factor H binds at two independent sites to C-reactive protein in acute-phase concentrations. J. Biol. Chem. 285, 1053-1065 CrossRef PubMed
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 1053-1065
-
-
Okemefuna, A.I.1
Nan, R.2
Miller, A.3
Gor, J.4
Perkins, S.J.5
-
87
-
-
0034531239
-
Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46)
-
CrossRef PubMed
-
Liszewski, M. K., Leung, M., Cui, W., Subramanian, V. B., Parkinson, J., Barlow, P. N., Manchester, M. and Atkinson, J. P. (2000) Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46). J. Biol. Chem. 275, 37692-37701 CrossRef PubMed
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 37692-37701
-
-
Liszewski, M.K.1
Leung, M.2
Cui, W.3
Subramanian, V.B.4
Parkinson, J.5
Barlow, P.N.6
Manchester, M.7
Atkinson, J.P.8
-
88
-
-
77956624660
-
Self-association and domain rearrangements between complement C3 and C3u provide insight into the activation mechanism of C3
-
CrossRef PubMed
-
Li, K., Gor, J. and Perkins, S. J. (2010) Self-association and domain rearrangements between complement C3 and C3u provide insight into the activation mechanism of C3. Biochem. J. 431, 63-72 CrossRef PubMed
-
(2010)
Biochem. J.
, vol.431
, pp. 63-72
-
-
Li, K.1
Gor, J.2
Perkins, S.J.3
-
89
-
-
78049233405
-
Allosteric inhibition of complement function by a staphylococcal immune evasion protein
-
CrossRef PubMed
-
Chen, H., Ricklin, D., Hammel, M., Garcia, B. L., McWhorter, W. J., Sfyroera, G., Wu, Y. Q., Tzekou, A., Li, S., Geisbrecht, B. V. et al. (2010) Allosteric inhibition of complement function by a staphylococcal immune evasion protein. Proc. Natl. Acad. Sci. U. S. A. 107, 17621-17626 CrossRef PubMed
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 17621-17626
-
-
Chen, H.1
Ricklin, D.2
Hammel, M.3
Garcia, B.L.4
McWhorter, W.J.5
Sfyroera, G.6
Wu, Y.Q.7
Tzekou, A.8
Li, S.9
Geisbrecht, B.V.10
-
90
-
-
84949124967
-
A revised mechanism for the activation of complement C3 to C3b and a molecular explanation of the difference between their C3S and C3F polymorphic forms
-
Rodriguez, E., Nan, R., Li, K., Gor, J. and Perkins, S. J. (2014) A revised mechanism for the activation of complement C3 to C3b and a molecular explanation of the difference between their C3S and C3F polymorphic forms. Mol. Immunol. 61, 255
-
(2014)
Mol. Immunol.
, vol.61
, pp. 255
-
-
Rodriguez, E.1
Nan, R.2
Li, K.3
Gor, J.4
Perkins, S.J.5
-
91
-
-
0036159740
-
Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein
-
CrossRef PubMed
-
Martin, A. C., Facchiano, A. M., Cuff, A. L., Hernandez-Boussard, T., Olivier, M., Hainaut, P. and Thornton, J. M. (2002) Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein. Hum. Mutat. 19, 149-164 CrossRef PubMed
-
(2002)
Hum. Mutat.
, vol.19
, pp. 149-164
-
-
Martin, A.C.1
Facchiano, A.M.2
Cuff, A.L.3
Hernandez-Boussard, T.4
Olivier, M.5
Hainaut, P.6
Thornton, J.M.7
-
92
-
-
84885333791
-
Structural insight on the recognition of surface-bound opsonins by the integrin I domain of complement receptor 3
-
CrossRef PubMed
-
Bajic, G., Yatime, L., Sim, R. B., Vorup-Jensen, T. and Andersen, G. R. (2013) Structural insight on the recognition of surface-bound opsonins by the integrin I domain of complement receptor 3. Proc. Natl. Acad. Sci. U. S. A. 110, 16426-16431 CrossRef PubMed
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. 16426-16431
-
-
Bajic, G.1
Yatime, L.2
Sim, R.B.3
Vorup-Jensen, T.4
Andersen, G.R.5
-
93
-
-
84896784026
-
Complement C3 and its polymorphism: Biological and clinical consequences
-
CrossRef PubMed
-
Delanghe, J. R., Speeckaert, R. and Speeckaert, M. M. (2014) Complement C3 and its polymorphism: biological and clinical consequences. Pathology 46, 1-10 CrossRef PubMed
-
(2014)
Pathology
, vol.46
, pp. 1-10
-
-
Delanghe, J.R.1
Speeckaert, R.2
Speeckaert, M.M.3
-
94
-
-
84908203373
-
Positive selection during the evolution of the blood coagulation factors in the context of their disease-causing mutations
-
in the press
-
Rallapalli, P. M., Orengo, C. A., Studer, R. A. and Perkins, S. J. (2014) Positive selection during the evolution of the blood coagulation factors in the context of their disease-causing mutations. Mol. Biol. Evol., in the press
-
(2014)
Mol. Biol. Evol.
-
-
Rallapalli, P.M.1
Orengo, C.A.2
Studer, R.A.3
Perkins, S.J.4
-
95
-
-
50849122974
-
Patterns of positive selection in six Mammalian genomes
-
CrossRef PubMed
-
Kosiol, C., Vinar, T., da Fonseca, R. R., Hubisz, M. J., Bustamante, C. D., Nielsen, R. and Siepel, A. (2008) Patterns of positive selection in six Mammalian genomes. PLoS Genet. 4, e1000144 CrossRef PubMed
-
(2008)
PLoS Genet.
, vol.4
, pp. e1000144
-
-
Kosiol, C.1
Vinar, T.2
Da Fonseca, R.R.3
Hubisz, M.J.4
Bustamante, C.D.5
Nielsen, R.6
Siepel, A.7
|