1 | CFI
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| Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population
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| Bezci Aygun F, Kadayıfcılar S, Ozgul RK, Eldem B.
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| Ophthalmologica. 243(3):187-194. doi: 10.1159/000503327. Epub 2019 Oct 15. 2020
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2 | CFI
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| Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation
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| Altmann T, Torvell M, Owens S, Mitra D, Sheerin NS, Morgan BP, Kavanagh D, Forsyth R.
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| Neurol Neuroimmunol Neuroinflamm. Feb 25;7(3):e689. doi: 10.1212/NXI.0000000000000689. 2020
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3 | CFI, CFID
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| Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
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| Shields AM, Pagnamenta AT, Pollard AJ; OxClinWGS, Taylor JC, Allroggen H, Patel SY.
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| Front Immunol. Jun 7;10:1150. doi: 10.3389/fimmu.2019.01150. eCollection 2019 2019
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4 | CFI
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| Serum complement factor I is associated with disease activity of systemic lupus erythematosus
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| Tseng MH, Lin SH, Wu CY, Chien HP, Yang HY, Chen YC, Chou YC, Huang JL.
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| Oncotarget. Jan 3;9(9):8502-8511. doi: 10.18632/oncotarget.23907. 2018
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5 | CFI
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| Atypical hemolytic-uremic syndrome due to complement factor I mutation.
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| Almalki AH, Sadagah LF, Qureshi M, Maghrabi H, Algain A, Alsaeed A.
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| World J Nephrol. Nov 6;6(6):243-250. doi: 10.5527/wjn.v6.i6.243. 2017
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6 | CFI
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| Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
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| Szarvas N, Szilágyi Á, Csuka D, Takács B, Rusai K, Müller T, Arbeiter K, Réti M, Haris Á, Wagner L, Török S, Kelen K, Szabó AJ, Reusz GS, Morgan BP, Prohászka Z.
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| Mol Immunol. Mar;71:10-22. doi: 10.1016/j.molimm.2016.01.003. Epub 2016 Jan 27. 2016
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7 | CFI
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| Complement factor I and age-related macular degeneration
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| Alexander P, Gibson J, Cree AJ, Ennis S, Lotery AJ.
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| Mol Vis. Sep 13;20:1253-7. 2014
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8 | CFI
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| A functional variant in the CFI gene confers a high risk of age-related macular degeneration
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| van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI.
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| Nat Genet. Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19 2013
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9 | CFI
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| Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis
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| Broderick L, Gandhi C, Mueller JL, Putnam CD, Shayan K, Giclas PC, Peterson KS, Aceves SS, Sheets RM, Peterson BM, Newbury RO, Hoffman HM, Bastian JF.
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| J Clin Immunol. Jan;33(1):162-71. doi: 10.1007/s10875-012-9767-z. Epub 2012 Aug 29. 2013
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10 | CFI
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| High complement factor I activity in the plasma of children with autism spectrum disorders.
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| Momeni N, Brudin L, Behnia F, Nordström B, Yosefi-Oudarji A, Sivberg B, Joghataei MT, Persson BL.
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| Autism Res Treat. 2012:868576. doi: 10.1155/2012/868576. Epub 2011 Oct 24. 2012
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11 | CFI
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| Characterization of shark complement factor I gene(s): genomic analysis of a novel shark-specific sequence.
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| Shin DH, Webb BM, Nakao M, Smith SL.
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| Mol Immunol 46(11-12):2299-308. Epub 2009 May 7.PMID: 19423168 2009
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12 | CFI, CFID
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| Genetic, molecular and functional analyses of complement factor I deficiency.
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| Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjöholm AG, Truedsson L, Villoutreix BO, Blom AM.
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| Eur J Immunol 39(1):310-23.PMID: 19065647 2009
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13 | CFI, CFID
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| Molecular characterization of Complement Factor I deficiency in two Spanish families.
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| Ponce-Castro IM, González-Rubio C, Delgado-Cervińo EM, Abarrategui-Garrido C, Fontán G, Sánchez-Corral P, López-Trascasa M.
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| Mol Immunol 45(10):2764-71. Epub 2008 Mar 28.PMID: 18374984 2008
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14 | CFI
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| Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.
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| Kavanagh D, Richards A, Noris M, Hauhart R, Liszewski MK, Karpman D, Goodship JA, Fremeaux-Bacchi V, Remuzzi G, Goodship TH, Atkinson JP.
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| Mol Immunol 45(1):95-105. Epub 2007 Jun 26.PMID: 17597211 2008
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15 | CFI
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| Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.
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| Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grünfeld JP, Lesavre P, Noël LH, Fakhouri F.
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| J Med Genet 44(3):193-9. Epub 2006 Oct 3.
2007
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16 | CFI
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| Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome.
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| Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C; French Society of Pediatric Nephrology.
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| J Am Soc Nephrol 18(8):2392-400. Epub 2007 Jun 28.PMID: 17599974 2007
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17 | CFI, IF
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| Human complement factor I glycosylation: structural and functional characterisation of the N-linked oligosaccharides.
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| Tsiftsoglou SA, Arnold JN, Roversi P, Crispin MD, Radcliffe C, Lea SM, Dwek RA, Rudd PM, Sim RB.
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| Biochim Biophys Acta 1764(11):1757-66. Epub 2006 Sep 16. 2006
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18 | CFI, IF, HUS
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| Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.
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| Esparza-Gordillo J, Jorge EG, Garrido CA, Carreras L, Lopez-Trascasa M, Sanchez-Corral P, de Cordoba SR.
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| Mol Immunol 43(11):1769-75. Epub 2006 Jan 18. 2006
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19 | CFI
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| The catalytically active serine protease domain of human complement factor I.
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| Tsiftsoglou SA, Willis AC, Li P, Chen X, Mitchell DA, Rao Z, Sim RB.
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| Biochemistry 44(16):6239-49. 2005
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20 | CFI
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| Cloning and characterization of the promoter for the human complement factor 1 (C3b/C4b inactivator) gene.
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| Minta JO, Fung M, Turner S, Eren R, Zemach L, Rits M, Goldberger G.
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| Gene 208(1):17-24. 1998
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21 | CFI, CFID, IF
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| The molecular basis of hereditary complement factor I deficiency.
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| Vyse TJ, et al.
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| J Clin Invest 97 : 925-933. 1996
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22 | IF, CFI
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| The organization of the human complement factor I gene (IF) : a member of the serine protease gene family.
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| Vyse TJ, et al.
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| Genomics 24 : 90-98. 1994
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23 | ADH@, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH5P1, FGF2, CFI
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| Mapping of the human complement factor 1 gene to 4q25.
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| Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH, Sanger WG, Goldberger G.
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| Genomics 4(1):82-6. 1989
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24 | IF, EGF, CFI
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| A megarestriction map linking the genes for complement component I and epidermal growth factor within band 4q25.
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| Klble K, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1024. 1989
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25 | CFI
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| Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.
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| Goldberger G, et al.
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| J Biol Chem 262 : 10065-10071. 1987
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