-
1
-
-
76949087440
-
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome
-
Abarrategui-Garrido C., Martínez-Barricarte R., López-Trascasa M., et al. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood 2009, 114:4261-4271.
-
(2009)
Blood
, vol.114
, pp. 4261-4271
-
-
Abarrategui-Garrido, C.1
Martínez-Barricarte, R.2
López-Trascasa, M.3
-
2
-
-
79958192481
-
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees
-
Athanasiou Y., Voskarides K., Gale D.P., et al. Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees. Clin. J. Am. Soc. Nephrol. 2011, 6:1436-1446.
-
(2011)
Clin. J. Am. Soc. Nephrol.
, vol.6
, pp. 1436-1446
-
-
Athanasiou, Y.1
Voskarides, K.2
Gale, D.P.3
-
3
-
-
84924894624
-
Structural basis for sialic acid-mediated self-recognition by complement factor H
-
Blaum B.S., Hannan J.P., Herbert A.P., et al. Structural basis for sialic acid-mediated self-recognition by complement factor H. Nat. Chem. Biol. 2015, 11:77-82.
-
(2015)
Nat. Chem. Biol.
, vol.11
, pp. 77-82
-
-
Blaum, B.S.1
Hannan, J.P.2
Herbert, A.P.3
-
4
-
-
84940955773
-
Competition between antagonistic complement factors for a single protein on N. meningitidis rules disease susceptibility
-
Caesar J.J.E., Lavender H., Ward P.N., et al. Competition between antagonistic complement factors for a single protein on N. meningitidis rules disease susceptibility. eLife 2014, 3:e04008.
-
(2014)
eLife
, vol.3
-
-
Caesar, J.J.E.1
Lavender, H.2
Ward, P.N.3
-
5
-
-
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
-
Caprioli J., Castelletti F., Bucchioni S., et al. 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. Genet. 2003, 12:3385-3395.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3385-3395
-
-
Caprioli, J.1
Castelletti, F.2
Bucchioni, S.3
-
6
-
-
84892930196
-
Complement factor H-related hybrid protein deregulates complement in dense deposit disease
-
Chen Q., Wiesener M., Eberhardt H.U., et al. Complement factor H-related hybrid protein deregulates complement in dense deposit disease. J. Clin. Investig. 2014, 124:145-155.
-
(2014)
J. Clin. Investig.
, vol.124
, pp. 145-155
-
-
Chen, Q.1
Wiesener, M.2
Eberhardt, H.U.3
-
7
-
-
33747700932
-
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form
-
Clark S.J., Higman V.A., Mulloy B., et al. His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. J. Biol. Chem. 2006, 281:24713-24720.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 24713-24720
-
-
Clark, S.J.1
Higman, V.A.2
Mulloy, B.3
-
8
-
-
77956897697
-
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina
-
Clark S.J., Perveen R., Hakobyan S., et al. Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. J. Biol. Chem. 2010, 285:30192-30202.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 30192-30202
-
-
Clark, S.J.1
Perveen, R.2
Hakobyan, S.3
-
9
-
-
84910115978
-
Identification of factor H-like protein 1 as the predominant complement regulator in Bruch's membrane: implications for age-related macular degeneration
-
Clark S.J., Schmidt C.Q., White A.M., et al. Identification of factor H-like protein 1 as the predominant complement regulator in Bruch's membrane: implications for age-related macular degeneration. J. Immunol. 2014, 193:4962-4970.
-
(2014)
J. Immunol.
, vol.193
, pp. 4962-4970
-
-
Clark, S.J.1
Schmidt, C.Q.2
White, A.M.3
-
10
-
-
84866039264
-
Complement dysregulation and disease: from genes and proteins to diagnostics and drugs
-
de Cordoba S.R., Tortajada A., Harris C.L., et al. Complement dysregulation and disease: from genes and proteins to diagnostics and drugs. Immunobiology 2012, 217:1034-1046.
-
(2012)
Immunobiology
, vol.217
, pp. 1034-1046
-
-
de Cordoba, S.R.1
Tortajada, A.2
Harris, C.L.3
-
11
-
-
1542318912
-
Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases
-
Dragon-Durey M.-A., Frémeaux-Bacchi V., Loirat C., et al. 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. 2004, 15:787-795.
-
(2004)
J. Am. Soc. Nephrol.
, vol.15
, pp. 787-795
-
-
Dragon-Durey, M.-A.1
Frémeaux-Bacchi, V.2
Loirat, C.3
-
12
-
-
17244379811
-
Complement factor H polymorphism and age-related macular degeneration
-
Edwards A.O., Ritter R., Abel K.J., et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308:421-424.
-
(2005)
Science
, vol.308
, pp. 421-424
-
-
Edwards, A.O.1
Ritter, R.2
Abel, K.J.3
-
13
-
-
14644424005
-
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
-
Esparza-Gordillo J., Goicoechea de Jorge E., Buil A., et al. 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. Genet. 2005, 14:703-712.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 703-712
-
-
Esparza-Gordillo, J.1
Goicoechea de Jorge, E.2
Buil, A.3
-
14
-
-
0025814980
-
Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes
-
Esterbauer H., Schaur R.J., Zollner H. Chemistry and biochemistry of 4-hydroxynonenal, malonaldehyde and related aldehydes. Free Radic. Biol. Med. 1991, 11:81-128.
-
(1991)
Free Radic. Biol. Med.
, vol.11
, pp. 81-128
-
-
Esterbauer, H.1
Schaur, R.J.2
Zollner, H.3
-
15
-
-
67449119124
-
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome
-
Ferreira V.P., Herbert A.P., Cortés C., et al. The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. J. Immunol. 2009, 182:7009-7018.
-
(2009)
J. Immunol.
, vol.182
, pp. 7009-7018
-
-
Ferreira, V.P.1
Herbert, A.P.2
Cortés, C.3
-
16
-
-
84855862414
-
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome
-
Francis N.J., McNicholas B., Awan A., et al. A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 2012, 119:591-601.
-
(2012)
Blood
, vol.119
, pp. 591-601
-
-
Francis, N.J.1
McNicholas, B.2
Awan, A.3
-
17
-
-
84876044818
-
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults
-
Fremeaux-Bacchi V., Fakhouri F., Garnier A., et al. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin. J. Am. Soc. Nephrol. 2013, 8:554-562.
-
(2013)
Clin. J. Am. Soc. Nephrol.
, vol.8
, pp. 554-562
-
-
Fremeaux-Bacchi, V.1
Fakhouri, F.2
Garnier, A.3
-
18
-
-
54049137505
-
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
-
Frémeaux-Bacchi V., Miller E.C., Liszewski M.K., et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 2008, 112:4948-4952.
-
(2008)
Blood
, vol.112
, pp. 4948-4952
-
-
Frémeaux-Bacchi, V.1
Miller, E.C.2
Liszewski, M.K.3
-
19
-
-
81455128253
-
Regulating complement in the kidney: insights from CFHR5 nephropathy
-
Gale D.P., Pickering M.C. Regulating complement in the kidney: insights from CFHR5 nephropathy. Dis. Model. Mech. 2011, 4:721-726.
-
(2011)
Dis. Model. Mech.
, vol.4
, pp. 721-726
-
-
Gale, D.P.1
Pickering, M.C.2
-
20
-
-
77956394517
-
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
-
Gale D.P., Goicoechea de Jorge E., Cook H.T., et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet 2010, 376:794-801.
-
(2010)
Lancet
, vol.376
, pp. 794-801
-
-
Gale, D.P.1
Goicoechea de Jorge, E.2
Cook, H.T.3
-
21
-
-
79953224410
-
Genome-wide association study identifies susceptibility loci for IgA nephropathy
-
Gharavi A.G., Kiryluk K., Choi M., et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat. Genet. 2011, 43:321-327.
-
(2011)
Nat. Genet.
, vol.43
, pp. 321-327
-
-
Gharavi, A.G.1
Kiryluk, K.2
Choi, M.3
-
22
-
-
84875239064
-
Dimerization of complement factor H-related proteins modulates complement activation in vivo
-
Goicoechea de Jorge E., Caesar J.J.E., Malik T.H., et al. Dimerization of complement factor H-related proteins modulates complement activation in vivo. Proc. Natl. Acad. Sci. U. S. A. 2013, 110:4685-4690.
-
(2013)
Proc. Natl. Acad. Sci. U. S. A.
, vol.110
, pp. 4685-4690
-
-
Goicoechea de Jorge, E.1
Caesar, J.J.E.2
Malik, T.H.3
-
23
-
-
84863716162
-
Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics
-
Gorin M.B. Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol. Aspects Med. 2012, 33:467-486.
-
(2012)
Mol. Aspects Med.
, vol.33
, pp. 467-486
-
-
Gorin, M.B.1
-
24
-
-
21044453724
-
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
-
Hageman G.S., Anderson D.H., Johnson L.V., et al. 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, 102:7227-7232.
-
(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
-
25
-
-
77957575143
-
Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome
-
Hakobyan S., Tortajada A., Harris C.L., et al. Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome. Kidney Int. 2010, 78:782-788.
-
(2010)
Kidney Int.
, vol.78
, pp. 782-788
-
-
Hakobyan, S.1
Tortajada, A.2
Harris, C.L.3
-
26
-
-
33746655453
-
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
-
Heinen S., Sanchez-Corral P., Jackson M.S., et al. 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, 27:292-293.
-
(2006)
Hum. Mutat.
, vol.27
, pp. 292-293
-
-
Heinen, S.1
Sanchez-Corral, P.2
Jackson, M.S.3
-
27
-
-
0028952777
-
Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency
-
Høgåsen K., Jansen J.H., Mollnes T.E., et al. Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. J. Clin. Investig. 1995, 95:1054-1061.
-
(1995)
J. Clin. Investig.
, vol.95
, pp. 1054-1061
-
-
Høgåsen, K.1
Jansen, J.H.2
Mollnes, T.E.3
-
28
-
-
20244388812
-
Complement factor H variant increases the risk of age-related macular degeneration
-
Haines J.L., Hauser M.A., Schmidt S., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005, 308:419-421.
-
(2005)
Science
, vol.308
, pp. 419-421
-
-
Haines, J.L.1
Hauser, M.A.2
Schmidt, S.3
-
29
-
-
47249120139
-
The spectrum of complement alternative pathway-mediated diseases
-
Holers V.M. The spectrum of complement alternative pathway-mediated diseases. Immunol. Rev. 2008, 223:300-316.
-
(2008)
Immunol. Rev.
, vol.223
, pp. 300-316
-
-
Holers, V.M.1
-
30
-
-
84876170850
-
Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32
-
Holmes L.V., Strain L., Staniforth S.J., et al. Determining the Population Frequency of the CFHR3/CFHR1 Deletion at 1q32. PLOS ONE 2013, 8:e60352.
-
(2013)
PLOS ONE
, vol.8
-
-
Holmes, L.V.1
Strain, L.2
Staniforth, S.J.3
-
31
-
-
33749123246
-
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
-
Hughes A.E., Orr N., Esfandiary H., et al. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat. Genet. 2006, 38:1173-1177.
-
(2006)
Nat. Genet.
, vol.38
, pp. 1173-1177
-
-
Hughes, A.E.1
Orr, N.2
Esfandiary, H.3
-
32
-
-
47749126514
-
Factor H family proteins and human diseases
-
Józsi M., Zipfel P.F. Factor H family proteins and human diseases. Trends Immunol. 2008, 29:380-387.
-
(2008)
Trends Immunol.
, vol.29
, pp. 380-387
-
-
Józsi, M.1
Zipfel, P.F.2
-
33
-
-
84930819375
-
Factor H-related proteins determine complement-activating surfaces
-
Józsi M., Tortajada A., Uzonyi B., et al. Factor H-related proteins determine complement-activating surfaces. Trends Immunol. 2015, 10.1016/j.it.2015.04.008.
-
(2015)
Trends Immunol.
-
-
Józsi, M.1
Tortajada, A.2
Uzonyi, B.3
-
34
-
-
79952612300
-
Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement
-
Kajander T., Lehtinen M.J., Hyvärinen S., et al. Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:2897-2902.
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 2897-2902
-
-
Kajander, T.1
Lehtinen, M.J.2
Hyvärinen, S.3
-
35
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
Klein R.J., Zeiss C., Chew E.Y., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
-
(2005)
Science
, vol.308
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
-
36
-
-
0035089983
-
Familial hemolytic uremic syndrome associated with complement factor H deficiency
-
Landau D., Shalev H., Levy-Finer G., et al. Familial hemolytic uremic syndrome associated with complement factor H deficiency. J. Pediatr. 2001, 138:412-417.
-
(2001)
J. Pediatr.
, vol.138
, pp. 412-417
-
-
Landau, D.1
Shalev, H.2
Levy-Finer, G.3
-
37
-
-
0022904646
-
H deficiency in two brothers with atypical dense intramembranous deposit disease
-
Levy M., Halbwachs-Mecarelli L., Gubler M-C., et al. H deficiency in two brothers with atypical dense intramembranous deposit disease. Kidney Int. 1986, 30:949-956.
-
(1986)
Kidney Int.
, vol.30
, pp. 949-956
-
-
Levy, M.1
Halbwachs-Mecarelli, L.2
Gubler, M.-C.3
-
38
-
-
33745697887
-
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)
-
Licht C., Heinen S., Jozsi M., et al. Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006, 70:42-50.
-
(2006)
Kidney Int.
, vol.70
, pp. 42-50
-
-
Licht, C.1
Heinen, S.2
Jozsi, M.3
-
40
-
-
0037396993
-
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
-
Manuelian T., Hellwage J., Meri S., et al. Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J. Clin. Investig. 2003, 111:1181-1190.
-
(2003)
J. Clin. Investig.
, vol.111
, pp. 1181-1190
-
-
Manuelian, T.1
Hellwage, J.2
Meri, S.3
-
41
-
-
40449085427
-
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome
-
Martinez-Barricarte R., Pianetti G., Gautard R., et al. The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2008, 19:639-646.
-
(2008)
J. Am. Soc. Nephrol.
, vol.19
, pp. 639-646
-
-
Martinez-Barricarte, R.1
Pianetti, G.2
Gautard, R.3
-
42
-
-
77957827919
-
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation
-
Martínez-Barricarte R., Heurich M., Valdes-Cañedo F., et al. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J. Clin. Investig. 2010, 120:3702-3712.
-
(2010)
J. Clin. Investig.
, vol.120
, pp. 3702-3712
-
-
Martínez-Barricarte, R.1
Heurich, M.2
Valdes-Cañedo, F.3
-
43
-
-
84857802385
-
Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration
-
Martínez-Barricarte R., Recalde S., Fernández-Robredo P., et al. Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2012, 53:1087-1094.
-
(2012)
Invest. Ophthalmol. Vis. Sci.
, vol.53
, pp. 1087-1094
-
-
Martínez-Barricarte, R.1
Recalde, S.2
Fernández-Robredo, P.3
-
44
-
-
84927124445
-
The molecular and structural bases for the association of three mutations in the complement component C3 with atypical hemolytic uremic síndrome
-
Martínez-Barricarte R., Heurich M., López-Perrote A., et al. The molecular and structural bases for the association of three mutations in the complement component C3 with atypical hemolytic uremic síndrome. Mol. Immunol. 2015, 66:263-273.
-
(2015)
Mol. Immunol.
, vol.66
, pp. 263-273
-
-
Martínez-Barricarte, R.1
Heurich, M.2
López-Perrote, A.3
-
45
-
-
84936775679
-
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation
-
Matsumoto T., Fan X., Ishikawa E., et al. Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation. Int. J. Hematol. 2014, 100:437-442.
-
(2014)
Int. J. Hematol.
, vol.100
, pp. 437-442
-
-
Matsumoto, T.1
Fan, X.2
Ishikawa, E.3
-
46
-
-
41849110155
-
Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis
-
Montes T., Goicoechea de Jorge E., Ramos R., et al. Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. Mol. Immunol. 2008, 45:2897-2904.
-
(2008)
Mol. Immunol.
, vol.45
, pp. 2897-2904
-
-
Montes, T.1
Goicoechea de Jorge, E.2
Ramos, R.3
-
47
-
-
79953772478
-
Structural basis for engagement by complement factor H of C3b on a self surface
-
Morgan H.P., Schmidt C.Q., Guariento M., et al. Structural basis for engagement by complement factor H of C3b on a self surface. Nat. Struct. Mol. Biol. 2011, 18:463-470.
-
(2011)
Nat. Struct. Mol. Biol.
, vol.18
, pp. 463-470
-
-
Morgan, H.P.1
Schmidt, C.Q.2
Guariento, M.3
-
48
-
-
84857536091
-
Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)
-
Morgan H.P., Mertens H.D.T., Guariento M., et al. Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH). PLoS ONE 2012, 7:e32187.
-
(2012)
PLoS ONE
, vol.7
-
-
Morgan, H.P.1
Mertens, H.D.T.2
Guariento, M.3
-
49
-
-
0034974922
-
Complement-regulator factor H and related proteins in otitis media with effusion
-
Närkiö-Mäkelä M., Hellwage J., Tahkokallio O., et al. Complement-regulator factor H and related proteins in otitis media with effusion. Clin. Immunol. 2001, 100:118-126.
-
(2001)
Clin. Immunol.
, vol.100
, pp. 118-126
-
-
Närkiö-Mäkelä, M.1
Hellwage, J.2
Tahkokallio, O.3
-
50
-
-
70350279315
-
Atypical hemolytic-uremic syndrome
-
Noris M., Remuzzi G. Atypical hemolytic-uremic syndrome. N. Engl. J. Med. 2009, 361:1676-1687.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 1676-1687
-
-
Noris, M.1
Remuzzi, G.2
-
51
-
-
77958587405
-
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
-
Noris M., Caprioli J., Bresin E., et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin. J. Am. Soc. Nephrol. 2010, 5:1844-1859.
-
(2010)
Clin. J. Am. Soc. Nephrol.
, vol.5
, pp. 1844-1859
-
-
Noris, M.1
Caprioli, J.2
Bresin, E.3
-
52
-
-
0031693194
-
Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H
-
Ohali M., Shalev H., Schlesinger M., et al. Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. Pediatr. Nephrol. 1998, 12:619-624.
-
(1998)
Pediatr. Nephrol.
, vol.12
, pp. 619-624
-
-
Ohali, M.1
Shalev, H.2
Schlesinger, M.3
-
53
-
-
0035121908
-
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
-
Pérez-Caballero D., González-Rubio C., Gallardo M.E., et al. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am. J. Hum. Genet. 2001, 68:478-484.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 478-484
-
-
Pérez-Caballero, D.1
González-Rubio, C.2
Gallardo, M.E.3
-
54
-
-
37849022343
-
Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals
-
Pickering M.C., Cook H.T. Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals. Clin. Exp. Immunol. 2008, 151:210-230.
-
(2008)
Clin. Exp. Immunol.
, vol.151
, pp. 210-230
-
-
Pickering, M.C.1
Cook, H.T.2
-
55
-
-
0036699540
-
Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H
-
Pickering M.C., Cook H.T., Warren J., et al. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat. Genet. 2002, 31:424-428.
-
(2002)
Nat. Genet.
, vol.31
, pp. 424-428
-
-
Pickering, M.C.1
Cook, H.T.2
Warren, J.3
-
56
-
-
34250329129
-
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
-
Pickering M.C., Goicoechea de Jorge E., Martínez-Barricarte R., et al. Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J. Exp. Med. 2007, 204:1249-1256.
-
(2007)
J. Exp. Med.
, vol.204
, pp. 1249-1256
-
-
Pickering, M.C.1
Goicoechea de Jorge, E.2
Martínez-Barricarte, R.3
-
57
-
-
34948910047
-
Structural basis for complement factor H linked age-related macular degeneration
-
Prosser B.E., Johnson S., Roversi P., et al. Structural basis for complement factor H linked age-related macular degeneration. J. Exp. Med. 2007, 204:2277-2283.
-
(2007)
J. Exp. Med.
, vol.204
, pp. 2277-2283
-
-
Prosser, B.E.1
Johnson, S.2
Roversi, P.3
-
58
-
-
82255162545
-
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
-
Raychaudhuri S., Iartchouk O., Chin K., et al. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat. Genet. 2011, 43:1232-1236.
-
(2011)
Nat. Genet.
, vol.43
, pp. 1232-1236
-
-
Raychaudhuri, S.1
Iartchouk, O.2
Chin, K.3
-
59
-
-
84875968524
-
Complement in immune and inflammatory disorders: pathophysiological mechanisms
-
Ricklin D., Lambris J.D. Complement in immune and inflammatory disorders: pathophysiological mechanisms. J. Immunol. 2013, 190:3831-3838.
-
(2013)
J. Immunol.
, vol.190
, pp. 3831-3838
-
-
Ricklin, D.1
Lambris, J.D.2
-
60
-
-
77955883153
-
Complement - a key system for immune surveillance and homeostasis
-
Ricklin D., Hajishengallis G., Yang K., et al. Complement - a key system for immune surveillance and homeostasis. Nat. Immunol. 2010, 11:785-797.
-
(2010)
Nat. Immunol.
, vol.11
, pp. 785-797
-
-
Ricklin, D.1
Hajishengallis, G.2
Yang, K.3
-
61
-
-
2442433542
-
The human complement factor H: functional roles, genetic variations and disease associations
-
Rodríguez de Córdoba S., Esparza-Gordillo J., Goicoechea de Jorge E., et al. The human complement factor H: functional roles, genetic variations and disease associations. Mol. Immunol. 2004, 41:355-367.
-
(2004)
Mol. Immunol.
, vol.41
, pp. 355-367
-
-
Rodríguez de Córdoba, S.1
Esparza-Gordillo, J.2
Goicoechea de Jorge, E.3
-
62
-
-
84890562904
-
Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene
-
Román-Ortiz E., Mendizabal Oteiza S., Pinto S., et al. Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene. Pediatr. Nephrol. 2014, 29:149-153.
-
(2014)
Pediatr. Nephrol.
, vol.29
, pp. 149-153
-
-
Román-Ortiz, E.1
Mendizabal Oteiza, S.2
Pinto, S.3
-
63
-
-
38849102544
-
Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice
-
Rose K.L., Paixao-Cavalcante D., Fish J., et al. Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice. J. Clin. Investig. 2008, 118:608-618.
-
(2008)
J. Clin. Investig.
, vol.118
, pp. 608-618
-
-
Rose, K.L.1
Paixao-Cavalcante, D.2
Fish, J.3
-
64
-
-
84930703194
-
Eculizumab treatment for rescue of renal function in IgA nephropathy
-
Rosenblad T., Rebetz J., Johansson M., et al. Eculizumab treatment for rescue of renal function in IgA nephropathy. Pediatr. Nephrol. 2014, 29:2225-2228.
-
(2014)
Pediatr. Nephrol.
, vol.29
, pp. 2225-2228
-
-
Rosenblad, T.1
Rebetz, J.2
Johansson, M.3
-
65
-
-
84860711841
-
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
-
Roumenina L.T., Frimat M., Miller E.C., et al. A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function. Blood 2012, 119:4182-4191.
-
(2012)
Blood
, vol.119
, pp. 4182-4191
-
-
Roumenina, L.T.1
Frimat, M.2
Miller, E.C.3
-
66
-
-
0036908821
-
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome
-
Sánchez-Corral P., Pérez-Caballero D., Huarte O., et al. Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am. J. Hum. Genet. 2002, 71:1285-1295.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1285-1295
-
-
Sánchez-Corral, P.1
Pérez-Caballero, D.2
Huarte, O.3
-
67
-
-
2342582709
-
Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H
-
Sánchez-Corral P., González-Rubio C., Rodríguez de Córdoba S., et al. Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Mol. Immunol. 2004, 41:81-84.
-
(2004)
Mol. Immunol.
, vol.41
, pp. 81-84
-
-
Sánchez-Corral, P.1
González-Rubio, C.2
Rodríguez de Córdoba, S.3
-
68
-
-
84925962811
-
Factors determining penetrance in familial atypical haemolytic uraemic syndrome
-
Sansbury F.H., Cordell H.J., Bingham C., et al. Factors determining penetrance in familial atypical haemolytic uraemic syndrome. J. Med. Genet. 2014, 51:756-764.
-
(2014)
J. Med. Genet.
, vol.51
, pp. 756-764
-
-
Sansbury, F.H.1
Cordell, H.J.2
Bingham, C.3
-
69
-
-
67249113222
-
Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates
-
Schneider M.C., Prosser B.E., Caesar J.J.E., et al. Neisseria meningitidis recruits factor H using protein mimicry of host carbohydrates. Nature 2009, 458:890-893.
-
(2009)
Nature
, vol.458
, pp. 890-893
-
-
Schneider, M.C.1
Prosser, B.E.2
Caesar, J.J.E.3
-
70
-
-
84927156200
-
Functional mapping of the interactions between complement C3 and regulatory proteins using atypical hemolytic uremic syndrome-associated mutations
-
pii:blood-2014-10-609073, [Epub ahead of print]
-
Schramm E.C., Roumenina L.T., Rybkine T., et al. Functional mapping of the interactions between complement C3 and regulatory proteins using atypical hemolytic uremic syndrome-associated mutations. Blood 2015, pii:blood-2014-10-609073. [Epub ahead of print].
-
(2015)
Blood
-
-
Schramm, E.C.1
Roumenina, L.T.2
Rybkine, T.3
-
71
-
-
34147180032
-
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome
-
Servais A., Frémeaux-Bacchi V., Lequintrec M., et al. Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J. Med. Genet. 2007, 44:193-199.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 193-199
-
-
Servais, A.1
Frémeaux-Bacchi, V.2
Lequintrec, M.3
-
72
-
-
57649230771
-
Complement factor H related proteins in immune diseases
-
Skerka C., Zipfel P.F. Complement factor H related proteins in immune diseases. Vaccine 2008, 26(Supplement 8):I9-I14.
-
(2008)
Vaccine
, vol.26
, pp. I9-I14
-
-
Skerka, C.1
Zipfel, P.F.2
-
73
-
-
34548491156
-
New approaches to the treatment of dense deposit disease
-
Smith R.J.H., Alexander J., Barlow P.N., et al. New approaches to the treatment of dense deposit disease. J. Am. Soc. Nephrol. 2007, 18:2447-2456.
-
(2007)
J. Am. Soc. Nephrol.
, vol.18
, pp. 2447-2456
-
-
Smith, R.J.H.1
Alexander, J.2
Barlow, P.N.3
-
75
-
-
84878548121
-
C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
-
Tortajada A., Yébenes H., Abarrategui-Garrido C., et al. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J. Clin. Investig. 2013, 123:2434-2446.
-
(2013)
J. Clin. Investig.
, vol.123
, pp. 2434-2446
-
-
Tortajada, A.1
Yébenes, H.2
Abarrategui-Garrido, C.3
-
76
-
-
84924196365
-
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation
-
Valoti E., Alberti M., Tortajada A., et al. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation. J. Am. Soc. Nephrol. 2015, 26:209-219.
-
(2015)
J. Am. Soc. Nephrol.
, vol.26
, pp. 209-219
-
-
Valoti, E.1
Alberti, M.2
Tortajada, A.3
-
77
-
-
33750855444
-
Atypical haemolytic uremic syndrome associated with a hybrid complement gene
-
Venables J.P., Strain L., Routledge D., et al. Atypical haemolytic uremic syndrome associated with a hybrid complement gene. PLoS Med. 2006, 3:e431.
-
(2006)
PLoS Med.
, vol.3
-
-
Venables, J.P.1
Strain, L.2
Routledge, D.3
-
78
-
-
84864419719
-
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding
-
Volokhina E., Westra D., Xue X., et al. Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding. Pediatr. Nephrol. 2012, 27:1519-1524.
-
(2012)
Pediatr. Nephrol.
, vol.27
, pp. 1519-1524
-
-
Volokhina, E.1
Westra, D.2
Xue, X.3
-
79
-
-
80053904386
-
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress
-
Weismann D., Hartvigsen K., Lauer N., et al. Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. Nature 2011, 478:76-81.
-
(2011)
Nature
, vol.478
, pp. 76-81
-
-
Weismann, D.1
Hartvigsen, K.2
Lauer, N.3
-
80
-
-
84886716523
-
Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy
-
Wilson V., Darlay R., Wong W., et al. Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy. Am. J. Kidney Dis. 2013, 62:978-983.
-
(2013)
Am. J. Kidney Dis.
, vol.62
, pp. 978-983
-
-
Wilson, V.1
Darlay, R.2
Wong, W.3
-
82
-
-
84930817837
-
A novel fusion gene CHFR5-CFHR2 causes C3 glomerulonephritis
-
Zhang Y., Xiao X., Garcia-Fernandez J., et al. A novel fusion gene CHFR5-CFHR2 causes C3 glomerulonephritis. Mol. Immunol. 2013, 56:297.
-
(2013)
Mol. Immunol.
, vol.56
, pp. 297
-
-
Zhang, Y.1
Xiao, X.2
Garcia-Fernandez, J.3
-
83
-
-
79957991917
-
Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility
-
Zhao J., Wu H., Khosravi M., et al. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet. 2011, 7:e1002079.
-
(2011)
PLoS Genet.
, vol.7
-
-
Zhao, J.1
Wu, H.2
Khosravi, M.3
-
84
-
-
70249115440
-
Complement and immune defense: from innate immunity to human diseases
-
Zipfel P.F. Complement and immune defense: from innate immunity to human diseases. Immunol. Lett. 2009, 126:1-7.
-
(2009)
Immunol. Lett.
, vol.126
, pp. 1-7
-
-
Zipfel, P.F.1
|