| 1 | ARMD4, CFH, CFHR1, CFHR2, CFHR3, CFHR4
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| Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
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| Cipriani V, Tierney A, Griffiths JR, Zuber V, Sergouniotis PI, Yates JRW, Moore AT, Bishop PN, Clark SJ, Unwin RD.
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| Am J Hum Genet. Aug 5;108(8):1385-1400. doi: 10.1016/j.ajhg.2021.05.015. Epub 2021 Jul 13 2021
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| 2 | CFHR1
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| Serum FHR1 binding to necrotic-type cells activates monocytic inflammasome and marks necrotic sites in vasculopathies
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| Irmscher S, Brix SR, Zipfel SLH, Halder LD, Mutlutürk S, Wulf S, Girdauskas E, Reichenspurner H, Stahl RAK, Jungnickel B, Wiech T, Zipfel PF, Skerka C.
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| Nat Commun. Jul 4;10(1):2961. doi: 10.1038/s41467-019-10766-0. 2019
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| 3 | CFHR1
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| Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome
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| Goicoechea de Jorge E, Tortajada A, García SP, Gastoldi S, Merinero HM, García-Fernández J, Arjona E, Cao M, Remuzzi G, Noris M, Rodríguez de Córdoba S.
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| J Am Soc Nephrol. Jan;29(1):240-249. doi: 10.1681/ASN.2017050518. Epub 2017 Oct 9. 2018
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| 4 | CFHR1, CRP
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| FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation.
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| Csincsi ÁI, Szabó Z, Bánlaki Z, Uzonyi B, Cserhalmi M, Kárpáti É, Tortajada A, Caesar JJE, Prohászka Z, Jokiranta TS, Lea SM, Rodríguez de Córdoba S, Józsi M.
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| J Immunol 199(1):292-303. doi: 10.4049/jimmunol.1600483. Epub 2017 May 22.
2017
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| 5 | CFHR1, CFHR2, CFHR5
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| Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma.
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| van Beek AE, Pouw RB, Brouwer MC, van Mierlo G, Geissler J, Ooijevaar-de Heer P, de Boer M, van Leeuwen K, Rispens T, Wouters D, Kuijpers TW.
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| Front Immunol. Oct 18;8:1328. doi: 10.3389/fimmu.2017.01328. 2017
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| 6 | C3, CFH, CFHR1
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| Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions
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| Hannan JP, Laskowski J, Thurman JM, Hageman GS, Holers VM.
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| PLoS One. Nov 4;11(11):e0166200. doi: 10.1371/journal.pone.0166200 2016
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| 7 | CFHR1, CFHR3
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| Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy..
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| Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H.
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| J Am Soc Nephrol May;26(5):1195-204. doi: 10.1681/ASN.2014010096. Epub 2014 Sep 9. 2015
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| 8 | CFH, CFHR1, CFHR3
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| Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.. 2015 PMID:
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| Bernabéu-Herrero ME, Jiménez-Alcázar M, Anter J, Pinto S, Sánchez Chinchilla D, Garrido S, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P
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| Mol Immunol. Oct;67(2 Pt B):276-86. doi: 10.1016/j.molimm.2015.06.021. Epub 2015 Jul 7. 2015
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| 9 | CFHR1
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| C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
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| Tortajada A, Yébenes H, Abarrategui-Garrido C, Anter J, García-Fernández JM, Martínez-Barricarte R, Alba-Domínguez M, Malik TH, Bedoya R, Cabrera Pérez R, López Trascasa M, Pickering MC, Harris CL, Sánchez-Corral P, Llorca O, Rodríguez de Córdoba S.
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| J Clin Invest. Jun;123(6):2434-46. doi: 10.1172/JCI68280. 2013
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| 10 | CFHR1, CFHR2, CFHR3, CFHR4, CFHR5
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| Complement factor H related proteins (CFHRs). 201. PMID:
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| Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT.
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| Mol Immunol. 3 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3 2013
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| 11 | CFHR1
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| Spanish Multicenter Group on AMD. Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration
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| Martínez-Barricarte R, Recalde S, Fernández-Robredo P, Millán I, Olavarrieta L, Viñuela A, Pérez-Pérez J, García-Layana A, Rodríguez de Córdoba S
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| Invest Ophthalmol Vis Sci. Mar 1;53(3):1087-94. doi: 10.1167/iovs.11-8709. 2012
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| 12 | CFHR1, CFHR3
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| Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome.
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| Strobel S, Abarrategui-Garrido C, Fariza-Requejo E, Seeberger H, Sánchez-Corral P, Józsi M.
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| Kidney Int idney Int. 2011 Jun 15. doi: 10.1038/ki.2011.152. [Epub ahead of print]
2011
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| 13 | CFHR1, CFHR3, CROCC, RTT
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| Investigation of modifier genes within copy number variations in Rett syndrome.
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| Artuso R, Papa FT, Grillo E, Mucciolo M, Yasui DH, Dunaway KW, Disciglio V, Mencarelli MA, Pollazzon M, Zappella M, Hayek G, Mari F, Renieri A, Lasalle JM, Ariani F.
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| J Hum Genet Hum Genet. 2011 May 19. [Epub ahead of print]
2011
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| 14 | CFHR1, CFHR3
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| An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
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| Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C.
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| Hum Mol Genet 19(23):4694-704. Epub 2010 Sep 15.
2010
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| 15 | CFHR1, CFHR3, CFHR4
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| 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.
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| Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ.
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| Blood 115(2):379-87. Epub 2009 Oct 27.
2010
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| 16 | CFHR1, CFHR3
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| Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
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| Lee BH, Kwak SH, Shin JI, Lee SH, Choi HJ, Kang HG, Ha IS, Lee JS, Dragon-Durey MA, Choi Y, Cheong HI.
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| Pediatr Res 66(3):336-40. 2009
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| 17 | CFHR1
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| The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
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| Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.
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| J Med Genet 46(7):447-50. Epub 2009 May 11.
2009
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| 18 | CFHR1, CFHR3
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| Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.
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| Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL.
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| Hum Mol Genet 17(7):971-7. Epub 2007 Dec 15. 2008
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| 19 | CFHR1, CFHR3
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| A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
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| Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U.
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| Nat Genet 38(10):1173-7. Epub 2006 Sep 24. 2006
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| 20 | CFHR4, CR1, CR2, CR1L, CFHR1, CFHR2, CFHR3, CFHR5
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| FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.
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| Jozsi M, Richter H, Loschmann I, Skerka C, Buck F, Beisiegel U, Erdei A, Zipfel PF.
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| Eur J Hum Genet 13(3):321-9. 2005
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| 21 | CALM1, CDK5R1, CFHR1, FGF13, GABRB3, HBB, MAP1B, MAP2, MAP2K4, RAB6A, RAP2A, SCN2B, SORT1, SYN2, VAMP1, YWHAZ, ZBTB18
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| Gene regulation and DNA damage in the ageing human brain.
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| Lu T, Pan Y, Kao SY, Li C, Kohane I, Chan J, Yankner BA.
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| Nature 429(6994):883-91. Epub 2004 Jun 09. 2004
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| 22 | CFHR1, CFHR2
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| Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes.
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| Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon DL.
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| Mol Immunol 37(1-2):41-52. 2000
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| 23 | CFHR1, CFHR2
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| Molecular cloning of a human serum protein structurally related to complement factor H.
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| Skerka C, Horstmann RD, Zipfel PF.
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| J Biol Chem 266(18):12015-20. 1991
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