-
2
-
-
0034100951
-
Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes
-
Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon, et al, (2000) Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Molecular Immunology 37: 41-52.
-
(2000)
Molecular Immunology
, vol.37
, pp. 41-52
-
-
Male, D.A.1
Ormsby, R.J.2
Ranganathan, S.3
Giannakis, E.4
Gordon5
-
3
-
-
0033029745
-
The factor H protein family
-
Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S, (1999) The factor H protein family. Immunopharmacology 42: 53-60.
-
(1999)
Immunopharmacology
, vol.42
, pp. 53-60
-
-
Zipfel, P.F.1
Jokiranta, T.S.2
Hellwage, J.3
Koistinen, V.4
Meri, S.5
-
4
-
-
47749126514
-
Factor H family proteins and human diseases
-
Jozsi M, Zipfel PF, (2008) Factor H family proteins and human diseases. Trends in Immunology 29: 380-387.
-
(2008)
Trends in Immunology
, vol.29
, pp. 380-387
-
-
Jozsi, M.1
Zipfel, P.F.2
-
5
-
-
34547664096
-
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
-
Lupski JR, Stankiewicz P, (2005) Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genetics 1: e49.
-
(2005)
PLoS Genetics
, vol.1
-
-
Lupski, J.R.1
Stankiewicz, P.2
-
6
-
-
54849404458
-
MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
-
McVey M, Lee SE, (2008) MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends in Genetics 24: 529-538.
-
(2008)
Trends in Genetics
, vol.24
, pp. 529-538
-
-
McVey, M.1
Lee, S.E.2
-
7
-
-
33750855444
-
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
-
Venables JP, Strain L, Routledge D, Bourn D, Powell HM, et al. (2006) Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Medicine 3: e431.
-
(2006)
PLoS Medicine
, vol.3
-
-
Venables, J.P.1
Strain, L.2
Routledge, D.3
Bourn, D.4
Powell, H.M.5
-
8
-
-
84855862414
-
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome
-
Francis NJ, McNicholas B, Awan A, Waldron M, Reddan D, et al. (2012) A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 119: 591-601.
-
(2012)
Blood
, vol.119
, pp. 591-601
-
-
Francis, N.J.1
McNicholas, B.2
Awan, A.3
Waldron, M.4
Reddan, D.5
-
9
-
-
84863511490
-
A hybrid CFHR3-1 gene causes familial C3 glomerulopathy
-
Malik TH, Lavin PJ, Goicoechea de Jorge E, Vernon KA, Rose KL, et al. (2012) A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. Journal of the American Society of Nephrology 23: 1155-1160.
-
(2012)
Journal of the American Society of Nephrology
, vol.23
, pp. 1155-1160
-
-
Malik, T.H.1
Lavin, P.J.2
Goicoechea de Jorge, E.3
Vernon, K.A.4
Rose, K.L.5
-
10
-
-
0026780266
-
Polymorphism and deficiency of human factor H-related proteins p39 and p37
-
Feifel E, Prodinger WM, Molgg M, Schwaeble W, Schonitzer D, et al. (1992) Polymorphism and deficiency of human factor H-related proteins p39 and p37. Immunogenetics 36: 104-109.
-
(1992)
Immunogenetics
, vol.36
, pp. 104-109
-
-
Feifel, E.1
Prodinger, W.M.2
Molgg, M.3
Schwaeble, W.4
Schonitzer, D.5
-
11
-
-
34047200899
-
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome
-
Zipfel PF, Edey M, Heinen S, Jozsi M, Richter M, et al. (2007) Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome. PLoS Genetics 3: e41.
-
(2007)
PLoS Genetics
, vol.3
-
-
Zipfel, P.F.1
Edey, M.2
Heinen, S.3
Jozsi, M.4
Richter, M.5
-
12
-
-
38949155911
-
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
-
Jozsi M, Licht C, Strobel S, Zipfel SL, Richter H, et al. (2008) Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 111: 1512-1514.
-
(2008)
Blood
, vol.111
, pp. 1512-1514
-
-
Jozsi, M.1
Licht, C.2
Strobel, S.3
Zipfel, S.L.4
Richter, H.5
-
13
-
-
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, Cui H, Qian X, et al. (2011) Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genetics 7: e1002079.
-
(2011)
PLoS Genetics
, vol.7
-
-
Zhao, J.1
Wu, H.2
Khosravi, M.3
Cui, H.4
Qian, X.5
-
14
-
-
33749123246
-
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration
-
Hughes AE, Orr N, Esfandiary H, Diaz-Torres ML, Goodship THJ, et al. (2006) A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nature Genetics 38: 1173-1177.
-
(2006)
Nature Genetics
, vol.38
, pp. 1173-1177
-
-
Hughes, A.E.1
Orr, N.2
Esfandiary, H.3
Diaz-Torres, M.L.4
Goodship, T.H.J.5
-
15
-
-
79953224410
-
Genome-wide association study identifies susceptibility loci for IgA nephropathy
-
Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, et al. (2011) Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics 43: 321-327.
-
(2011)
Nature Genetics
, vol.43
, pp. 321-327
-
-
Gharavi, A.G.1
Kiryluk, K.2
Choi, M.3
Li, Y.4
Hou, P.5
-
16
-
-
84864042658
-
Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis
-
Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, et al. (2012) Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis. PLoS Genetics 8: e1002765.
-
(2012)
PLoS Genetics
, vol.8
-
-
Kiryluk, K.1
Li, Y.2
Sanna-Cherchi, S.3
Rohanizadegan, M.4
Suzuki, H.5
-
17
-
-
33847153137
-
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications
-
Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, et al. (2006) Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications. Annals of Medicine 38: 592-604.
-
(2006)
Annals of Medicine
, vol.38
, pp. 592-604
-
-
Hageman, G.S.1
Hancox, L.S.2
Taiber, A.J.3
Gehrs, K.M.4
Anderson, D.H.5
-
18
-
-
84858069285
-
Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations
-
Leban N, Abarrategui-Garrido C, Fariza-Requejo E, Aminoso-Carbonero C, Pinto S, et al. (2012) Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations. International Journal of Immunogenetics 39: 110-113.
-
(2012)
International Journal of Immunogenetics
, vol.39
, pp. 110-113
-
-
Leban, N.1
Abarrategui-Garrido, C.2
Fariza-Requejo, E.3
Aminoso-Carbonero, C.4
Pinto, S.5
-
19
-
-
80053938930
-
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration
-
Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, et al. (2011) A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One 6: e25598.
-
(2011)
PLoS One
, vol.6
-
-
Sivakumaran, T.A.1
Igo Jr., R.P.2
Kidd, J.M.3
Itsara, A.4
Kopplin, L.J.5
-
20
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Research 30: e57.
-
(2002)
Nucleic Acids Research
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
-
21
-
-
0037066430
-
A human genome diversity cell line panel
-
Cann HM, de Toma C, Cazes L, Legrand MF, Morel V, et al. (2002) A human genome diversity cell line panel. Science 296: 261-262.
-
(2002)
Science
, vol.296
, pp. 261-262
-
-
Cann, H.M.1
de Toma, C.2
Cazes, L.3
Legrand, M.F.4
Morel, V.5
-
22
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
-
Nature
, vol.447
, pp. 661-678
-
-
-
23
-
-
35748981184
-
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
-
Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, et al. (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics 39: 1329-1337.
-
(2007)
Nature Genetics
, vol.39
, pp. 1329-1337
-
-
Burton, P.R.1
Clayton, D.G.2
Cardon, L.R.3
Craddock, N.4
Deloukas, P.5
-
24
-
-
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 haemolytic uraemic syndrome
-
Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, 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 haemolytic uraemic syndrome. Blood 115: 379-387.
-
(2010)
Blood
, vol.115
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
Kavanagh, D.4
Barlow, P.N.5
-
25
-
-
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, Martinez-Barricarte R, Lopez-Trascasa M, de CordobaSR, Sanchez-Corral P, (2009) Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood 114: 4261-4271.
-
(2009)
Blood
, vol.114
, pp. 4261-4271
-
-
Abarrategui-Garrido, C.1
Martinez-Barricarte, R.2
Lopez-Trascasa, M.3
de Cordoba, S.R.4
Sanchez-Corral, P.5
-
26
-
-
84869485944
-
The genetic prehistory of southern Africa
-
Pickrell JK, Patterson N, Barbieri C, Berthold F, Gerlach L, et al. (2012) The genetic prehistory of southern Africa. Nature Communications 3: 1143.
-
(2012)
Nature Communications
, vol.3
, pp. 1143
-
-
Pickrell, J.K.1
Patterson, N.2
Barbieri, C.3
Berthold, F.4
Gerlach, L.5
-
27
-
-
66249116333
-
The genetic structure and history of Africans and African Americans
-
Tishkoff SA, Reed FA, Friedlaender FR, Ehret C, Ranciaro A, et al. (2009) The genetic structure and history of Africans and African Americans. Science 324: 1035-1044.
-
(2009)
Science
, vol.324
, pp. 1035-1044
-
-
Tishkoff, S.A.1
Reed, F.A.2
Friedlaender, F.R.3
Ehret, C.4
Ranciaro, A.5
-
29
-
-
79955103752
-
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
-
Henn BM, Gignoux CR, Jobin M, Granka JM, Macpherson JM, et al. (2011) Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proceedings of the National Academy of Sciences of the United States of America 108: 5154-5162.
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
, pp. 5154-5162
-
-
Henn, B.M.1
Gignoux, C.R.2
Jobin, M.3
Granka, J.M.4
Macpherson, J.M.5
-
30
-
-
76249114566
-
Characterizing the admixed African ancestry of African Americans
-
Zakharia F, Basu A, Absher D, Assimes TL, Go AS, et al. (2009) Characterizing the admixed African ancestry of African Americans. Genome Biology 10: R141.
-
(2009)
Genome Biology
, vol.10
-
-
Zakharia, F.1
Basu, A.2
Absher, D.3
Assimes, T.L.4
Go, A.S.5
-
31
-
-
33748431853
-
Genomic view of the evolution of the complement system
-
Nonaka M, Kimura A, (2006) Genomic view of the evolution of the complement system. Immunogenetics 58: 701-713.
-
(2006)
Immunogenetics
, vol.58
, pp. 701-713
-
-
Nonaka, M.1
Kimura, A.2
-
32
-
-
25844487754
-
Characterization of a C3-like cDNA in a coral: phylogenetic implications
-
Dishaw LJ, Smith SL, Bigger CH, (2005) Characterization of a C3-like cDNA in a coral: phylogenetic implications. Immunogenetics 57: 535-548.
-
(2005)
Immunogenetics
, vol.57
, pp. 535-548
-
-
Dishaw, L.J.1
Smith, S.L.2
Bigger, C.H.3
-
33
-
-
3142760889
-
A short consensus repeat-containing complement regulatory protein of lamprey that participates in cleavage of lamprey complement 3
-
Kimura Y, Inoue N, Fukui A, Oshiumi H, Matsumoto M, et al. (2004) A short consensus repeat-containing complement regulatory protein of lamprey that participates in cleavage of lamprey complement 3. Journal of Immunology 173: 1118-1128.
-
(2004)
Journal of Immunology
, vol.173
, pp. 1118-1128
-
-
Kimura, Y.1
Inoue, N.2
Fukui, A.3
Oshiumi, H.4
Matsumoto, M.5
-
34
-
-
0034101232
-
Conservation of plasma regulatory proteins of the complement system in evolution: humans and fish. [Review] [44 refs]
-
Kemper C, Gigli I, Zipfel PF, (2000) Conservation of plasma regulatory proteins of the complement system in evolution: humans and fish. [Review] [44 refs]. Experimental & Clinical Immunogenetics 17: 55-62.
-
(2000)
Experimental & Clinical Immunogenetics
, vol.17
, pp. 55-62
-
-
Kemper, C.1
Gigli, I.2
Zipfel, P.F.3
-
36
-
-
78650521349
-
Zebrafish complement factor H and its related genes: identification, evolution, and expression
-
Sun G, Li H, Wang Y, Zhang B, Zhang S, (2010) Zebrafish complement factor H and its related genes: identification, evolution, and expression. Functional and Integrative Genomics 10: 577-587.
-
(2010)
Functional and Integrative Genomics
, vol.10
, pp. 577-587
-
-
Sun, G.1
Li, H.2
Wang, Y.3
Zhang, B.4
Zhang, S.5
-
37
-
-
33947220222
-
Structural variation in the human genome
-
Lupski JR, (2007) Structural variation in the human genome. New England Journal of Medicine 356: 1169-1171.
-
(2007)
New England Journal of Medicine
, vol.356
, pp. 1169-1171
-
-
Lupski, J.R.1
-
38
-
-
84855287780
-
Complement polymorphisms: Geographical distribution and relevance to disease
-
Ermini L, Wilson IJ, Goodship TH, Sheerin NS, (2012) Complement polymorphisms: Geographical distribution and relevance to disease. Immunobiology 217: 265-271.
-
(2012)
Immunobiology
, vol.217
, pp. 265-271
-
-
Ermini, L.1
Wilson, I.J.2
Goodship, T.H.3
Sheerin, N.S.4
-
39
-
-
77956642099
-
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease
-
Davila S, Wright VJ, Khor CC, Sim KS, Binder A, et al. (2010) Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease. Nature Genetics 42: 772-776.
-
(2010)
Nature Genetics
, vol.42
, pp. 772-776
-
-
Davila, S.1
Wright, V.J.2
Khor, C.C.3
Sim, K.S.4
Binder, A.5
-
40
-
-
77957147176
-
Complement driven innate immune response to malaria: fuelling severe malarial diseases
-
Silver KL, Higgins SJ, McDonald CR, Kain KC, (2010) Complement driven innate immune response to malaria: fuelling severe malarial diseases. Cellular Microbiology 12: 1036-1045.
-
(2010)
Cellular Microbiology
, vol.12
, pp. 1036-1045
-
-
Silver, K.L.1
Higgins, S.J.2
McDonald, C.R.3
Kain, K.C.4
-
41
-
-
77954094297
-
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent
-
Raychaudhuri S, Ripke S, Li M, Neale BM, Fagerness J, et al. (2010) Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. Nature Genetics 42: 553-555.
-
(2010)
Nature Genetics
, vol.42
, pp. 553-555
-
-
Raychaudhuri, S.1
Ripke, S.2
Li, M.3
Neale, B.M.4
Fagerness, J.5
-
42
-
-
41149171882
-
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration
-
Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, et al. (2008) Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Human Molecular Genetics 17: 971-977.
-
(2008)
Human Molecular Genetics
, vol.17
, pp. 971-977
-
-
Spencer, K.L.1
Hauser, M.A.2
Olson, L.M.3
Schmidt, S.4
Scott, W.K.5
-
43
-
-
77954107369
-
Reply to "Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent"
-
Hughes AE, Orr N, Cordell HJ, Goodship THJ, (2010) Reply to "Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent". Nature Genetics 42: 555-556.
-
(2010)
Nature Genetics
, vol.42
, pp. 555-556
-
-
Hughes, A.E.1
Orr, N.2
Cordell, H.J.3
Goodship, T.H.J.4
-
44
-
-
70349441306
-
Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation
-
Heinen S, Hartmann A, Lauer N, Wiehl U, Dahse HM, et al. (2009) Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 114: 2439-2447.
-
(2009)
Blood
, vol.114
, pp. 2439-2447
-
-
Heinen, S.1
Hartmann, A.2
Lauer, N.3
Wiehl, U.4
Dahse, H.M.5
-
46
-
-
78651266899
-
Prevalence of age-related macular degeneration in the US population
-
Klein R, Chou CF, Klein BE, Zhang X, Meuer SM, et al. (2011) Prevalence of age-related macular degeneration in the US population. Archives of Ophthalmology 129: 75-80.
-
(2011)
Archives of Ophthalmology
, vol.129
, pp. 75-80
-
-
Klein, R.1
Chou, C.F.2
Klein, B.E.3
Zhang, X.4
Meuer, S.M.5
-
47
-
-
33744822178
-
Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden
-
Danchenko N, Satia JA, Anthony MS, (2006) Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus 15: 308-318.
-
(2006)
Lupus
, vol.15
, pp. 308-318
-
-
Danchenko, N.1
Satia, J.A.2
Anthony, M.S.3
-
48
-
-
67650508077
-
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
-
Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, et al. (2009) The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. Journal of Medical Genetics 46: 447-450.
-
(2009)
Journal of Medical Genetics
, vol.46
, pp. 447-450
-
-
Dragon-Durey, M.A.1
Blanc, C.2
Marliot, F.3
Loirat, C.4
Blouin, J.5
|