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J Am Soc Nephrol, 2010; 21: 2180-2187","DOI":"10.1681\/ASN.2010030315"},{"key":"53","doi-asserted-by":"crossref","unstructured":"53) Jozsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF: Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood, 2007; 110: 1516-1518","DOI":"10.1182\/blood-2007-02-071472"},{"key":"54","doi-asserted-by":"crossref","unstructured":"54) 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: 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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Kidney Int, 2011; 80: 397-404","DOI":"10.1038\/ki.2011.152"},{"key":"57","doi-asserted-by":"crossref","unstructured":"57) Abarrategui-Garrido C, Martinez-Barricarte R, Lopez-Trascasa M, de Cordoba SR, Sanchez-Corral P: 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","DOI":"10.1182\/blood-2009-05-223834"},{"key":"58","doi-asserted-by":"crossref","unstructured":"58) Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M: 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. Ann Med, 2006; 38: 592-604","DOI":"10.1080\/07853890601097030"},{"key":"59","doi-asserted-by":"crossref","unstructured":"59) Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C: Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet, 2007; 3: e41","DOI":"10.1371\/journal.pgen.0030041"},{"key":"60","doi-asserted-by":"crossref","unstructured":"60) Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Fremeaux-Bacchi V: The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. J Med Genet, 2009; 46: 447-450","DOI":"10.1136\/jmg.2008.064766"},{"key":"61","doi-asserted-by":"crossref","unstructured":"61) Leban N, Abarrategui-Garrido C, Fariza-Requejo E, Aminoso-Carbonero C, Pinto S, Chibani JB, Khelil AH, Sanchez-Corral P: Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations. Int J Immunogenet, 2012; 39: 110-113","DOI":"10.1111\/j.1744-313X.2011.01071.x"},{"key":"62","doi-asserted-by":"crossref","unstructured":"62) Bhattacharjee A, Reuter S, Trojnar E, Kolodziejczyk R, Seeberger H, Hyvarinen S, Uzonyi B, Szilagyi A, Prohaszka Z, Goldman A, Jozsi M, Jokiranta TS: The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease. J Biol Chem, 2015; 290: 9500-9510","DOI":"10.1074\/jbc.M114.630871"},{"key":"63","doi-asserted-by":"crossref","unstructured":"63) Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM: Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med, 2009; 361: 345-357","DOI":"10.1056\/NEJMoa0810739"},{"key":"64","doi-asserted-by":"crossref","unstructured":"64) Lemaire M, Fremeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nurnberg G, Altmuller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nurnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP: Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet, 2013; 45: 531-536","DOI":"10.1038\/ng.2590"},{"key":"65","doi-asserted-by":"crossref","unstructured":"65) Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhauserer M, Breno M, Fremeaux-Bacchi V, Lifton R, Remuzzi G, Noris M: Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clin J Am Soc Nephrol, 2015; 10: 1011-1019","DOI":"10.2215\/CJN.08520814"},{"key":"66","doi-asserted-by":"crossref","unstructured":"66) Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommele A, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Fremeaux-Bacchi V: Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome. Kidney Int, 2018;","DOI":"10.1016\/j.kint.2018.02.029"},{"key":"67","doi-asserted-by":"crossref","unstructured":"67) Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S: Phenotypic expansion of DGKE-associated diseases. J Am Soc Nephrol, 2014; 25: 1408-1414","DOI":"10.1681\/ASN.2013080886"},{"key":"68","doi-asserted-by":"crossref","unstructured":"68) Miyata T, Uchida Y, Ohta T, Urayama K, Yoshida Y, Fujimura Y: Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations. Thromb Haemost, 2015; 114: 862-863","DOI":"10.1160\/TH15-01-0007"},{"key":"69","doi-asserted-by":"crossref","unstructured":"69) Bruneau S, Neel M, Roumenina LT, Frimat M, Laurent L, Fremeaux-Bacchi V, Fakhouri F: Loss of DGKepsilon induces endothelial cell activation and death independently of complement activation. Blood, 2015; 125: 1038-1046","DOI":"10.1182\/blood-2014-06-579953"},{"key":"70","doi-asserted-by":"crossref","unstructured":"70) Bu F, Maga T, Meyer NC, Wang K, Thomas CP, Nester CM, Smith RJ: Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J Am Soc Nephrol, 2014; 25: 55-64","DOI":"10.1681\/ASN.2013050453"},{"key":"71","doi-asserted-by":"crossref","unstructured":"71) Schuster V, Hugle B, Tefs K: Plasminogen deficiency. J Thromb Haemost, 2007; 5: 2315-2322","DOI":"10.1111\/j.1538-7836.2007.02776.x"},{"key":"72","doi-asserted-by":"crossref","unstructured":"72) Hyvarinen S, Jokiranta TS: Minor Role of Plasminogen in Complement Activation on Cell Surfaces. PLoS One, 2015; 10: e0143707","DOI":"10.1371\/journal.pone.0143707"},{"key":"73","doi-asserted-by":"crossref","unstructured":"73) Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D: Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease. J Am Soc Nephrol, 2017; 28: 1084-1091","DOI":"10.1681\/ASN.2015101189"},{"key":"74","doi-asserted-by":"crossref","unstructured":"74) Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet, 2010; 42: 72-76","DOI":"10.1038\/ng.505"},{"key":"75","doi-asserted-by":"crossref","unstructured":"75) Sanchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Pena A, Lopez Trascasa M, Sanchez-Corral P, Rodriguez de Cordoba S: Complement mutations in diacylglycerol kinase-epsilon-associated atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol, 2014; 9: 1611-1619","DOI":"10.2215\/CJN.01640214"},{"key":"76","doi-asserted-by":"crossref","unstructured":"76) Jodele S, Licht C, Goebel J, Dixon BP, Zhang K, Sivakumaran TA, Davies SM, Pluthero FG, Lu L, Laskin BL: Abnormalities in the alternative pathway of complement in children with hematopoietic stem cell transplant-associated thrombotic microangiopathy. Blood, 2013; 122: 2003-2007","DOI":"10.1182\/blood-2013-05-501445"},{"key":"77","doi-asserted-by":"crossref","unstructured":"77) Jodele S, Davies SM, Lane A, Khoury J, Dandoy C, Goebel J, Myers K, Grimley M, Bleesing J, El-Bietar J, Wallace G, Chima RS, Paff Z, Laskin BL: Diagnostic and risk criteria for HSCT-associated thrombotic microangiopathy: a study in children and young adults. Blood, 2014; 124: 645-653","DOI":"10.1182\/blood-2014-03-564997"},{"key":"78","doi-asserted-by":"crossref","unstructured":"78) Fakhouri F, Roumenina L, Provot F, Sallee M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, Rondeau E, Fremeaux-Bacchi V: Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol, 2010; 21: 859-867","DOI":"10.1681\/ASN.2009070706"},{"key":"79","doi-asserted-by":"crossref","unstructured":"79) Fakhouri F, Jablonski M, Lepercq J, Blouin J, Benachi A, Hourmant M, Pirson Y, Durrbach A, Grunfeld JP, Kne belmann B, Fremeaux-Bacchi V: Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome. Blood, 2008; 112: 4542-4545","DOI":"10.1182\/blood-2008-03-144691"},{"key":"80","doi-asserted-by":"crossref","unstructured":"80) Crovetto F, Borsa N, Acaia B, Nishimura C, Frees K, Smith RJ, Peyvandi F, Palla R, Cugno M, Tedeschi S, Castorina P, Somigliana E, Ardissino G, Fedele L: The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome. J Matern Fetal Neonatal Med, 2012; 25: 2322-2325","DOI":"10.3109\/14767058.2012.694923"},{"key":"81","doi-asserted-by":"crossref","unstructured":"81) Vaught AJ, Braunstein EM, Jasem J, Yuan X, Makhlin I, Eloundou S, Baines AC, Merrill SA, Chaturvedi S, Blakemore K, Sperati CJ, Brodsky RA: Germline mutations in the alternative pathway of complement predispose to HELLP syndrome. JCI Insight, 2018; 3:","DOI":"10.1172\/jci.insight.99128"},{"key":"82","doi-asserted-by":"crossref","unstructured":"82) Angioi A, Fervenza FC, Sethi S, Zhang Y, Smith RJ, Murray D, Van Praet J, Pani A, De Vriese AS: Diagnosis of complement alternative pathway disorders. Kidney Int, 2016; 89: 278-288","DOI":"10.1016\/j.kint.2015.12.003"},{"key":"83","doi-asserted-by":"crossref","unstructured":"83) Noris M, Galbusera M, Gastoldi S, Macor P, Banterla F, Bresin E, Tripodo C, Bettoni S, Donadelli R, Valoti E, Tedesco F, Amore A, Coppo R, Ruggenenti P, Gotti E, Remuzzi G: Dynamics of complement activation in aHUS and how to monitor eculizumab therapy. Blood, 2014; 124: 1715-1726","DOI":"10.1182\/blood-2014-02-558296"},{"key":"84","doi-asserted-by":"crossref","unstructured":"84) Cataland SR, Holers VM, Geyer S, Yang S, Wu HM: Biomarkers of terminal complement activation confirm the diagnosis of aHUS and differentiate aHUS from TTP. Blood, 2014; 123: 3733-3738","DOI":"10.1182\/blood-2013-12-547067"},{"key":"85","doi-asserted-by":"crossref","unstructured":"85) Gavriilaki E, Yuan X, Ye Z, Ambinder AJ, Shanbhag SP, Streiff MB, Kickler TS, Moliterno AR, Sperati CJ, Brodsky RA: Modified Ham test for atypical hemolytic uremic syndrome. Blood, 2015; 125: 3637-3646","DOI":"10.1182\/blood-2015-02-629683"},{"key":"86","doi-asserted-by":"crossref","unstructured":"86) Sanchez-Corral P, Gonzalez-Rubio C, Rodriguez de Cordoba S, Lopez-Trascasa M: 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","DOI":"10.1016\/j.molimm.2004.01.003"},{"key":"87","doi-asserted-by":"crossref","unstructured":"87) Roumenina LT, Roquigny R, Blanc C, Poulain N, Ngo S, Dragon-Durey MA, Fremeaux-Bacchi V: Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS). Methods Mol Biol, 2014; 1100: 237-247","DOI":"10.1007\/978-1-62703-724-2_19"},{"key":"88","doi-asserted-by":"crossref","unstructured":"88) Nurnberger J, Philipp T, Witzke O, Opazo Saez A, Vester U, Baba HA, Kribben A, Zimmerhackl LB, Janecke AR, Nagel M, Kirschfink M: Eculizumab for atypical hemolytic-uremic syndrome. N Engl J Med, 2009; 360: 542-544","DOI":"10.1056\/NEJMc0808527"},{"key":"89","doi-asserted-by":"crossref","unstructured":"89) Zuber J, Le Quintrec M, Krid S, Bertoye C, Gueutin V, Lahoche A, Heyne N, Ardissino G, Chatelet V, Noel LH, Hourmant M, Niaudet P, Fremeaux-Bacchi V, Rondeau E, Legendre C, Loirat C: Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. Am J Transplant, 2012; 12: 3337-3354","DOI":"10.1111\/j.1600-6143.2012.04252.x"},{"key":"90","doi-asserted-by":"crossref","unstructured":"90) Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nurnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C: Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med, 2013; 368: 2169-2181","DOI":"10.1056\/NEJMoa1208981"},{"key":"91","doi-asserted-by":"crossref","unstructured":"91) Licht C, Ardissino G, Ariceta G, Cohen D, Cole JA, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Schaefer F, Vande Walle J, Fremeaux-Bacchi V: The global aHUS registry: methodology and initial patient characteristics. BMC Nephrol, 2015; 16: 207","DOI":"10.1186\/s12882-015-0195-1"},{"key":"92","doi-asserted-by":"crossref","unstructured":"92) Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Fremeaux-Bacchi V, International HUS: An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol, 2016; 31: 15-39","DOI":"10.1007\/s00467-015-3076-8"},{"key":"93","doi-asserted-by":"crossref","unstructured":"93) Ohta T, Urayama K, Tada Y, Furue T, Imai S, Matsubara K, Ono H, Sakano T, Jinno K, Yoshida Y, Miyata T, Fujimura Y: Eculizumab in the treatment of atypical hemolytic uremic syndrome in an infant leads to cessation of peritoneal dialysis and improvement of severe hypertension. Pediatr Nephrol, 2015; 30: 603-608","DOI":"10.1007\/s00467-014-2975-4"},{"key":"94","doi-asserted-by":"crossref","unstructured":"94) Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S: Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan. Clin Exp Nephrol, 2016; 20: 265-272","DOI":"10.1007\/s10157-015-1142-y"},{"key":"95","doi-asserted-by":"crossref","unstructured":"95) Okumi M, Omoto K, Unagami K, Ishida H, Tanabe K: Eculizumab for the treatment of atypical hemolytic uremic syndrome recurrence after kidney transplantation associated with complement factor H mutations: a case report with a 5-year follow-up. Int Urol Nephrol, 2016; 48: 817-818","DOI":"10.1007\/s11255-016-1234-y"},{"key":"96","doi-asserted-by":"crossref","unstructured":"96) Yamaguchi M, Hori M, Hiroshi N, Maruyama S: Postpartum atypical hemolytic uremic syndrome with complement factor H mutation complicated by reversible cerebrovascular constriction syndrome successfully treated with eculizumab. Thromb Res, 2017; 151: 79-81","DOI":"10.1016\/j.thromres.2017.01.013"},{"key":"97","doi-asserted-by":"crossref","unstructured":"97) Nakamura H, Anayama M, Makino M, Makino Y, Tamura K, Nagasawa M: Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab. Nephron, 2018; 138: 324-327","DOI":"10.1159\/000485194"},{"key":"98","doi-asserted-by":"crossref","unstructured":"98) Nishimura J, Yamamoto M, Hayashi S, Ohyashiki K, Ando K, Brodsky AL, Noji H, Kitamura K, Eto T, Takahashi T, Masuko M, Matsumoto T, Wano Y, Shichishima T, Shibayama H, Hase M, Li L, Johnson K, Lazarowski A, Tamburini P, Inazawa J, Kinoshita T, Kanakura Y: Genetic variants in C5 and poor response to eculizumab. N Engl J Med, 2014; 370: 632-639","DOI":"10.1056\/NEJMoa1311084"}],"container-title":["Journal of Atherosclerosis and Thrombosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jat\/26\/2\/26_RV17026\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T13:37:19Z","timestamp":1694007439000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/jat\/26\/2\/26_RV17026\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,1]]},"references-count":98,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.5551\/jat.rv17026","relation":{},"ISSN":["1340-3478","1880-3873"],"issn-type":[{"value":"1340-3478","type":"print"},{"value":"1880-3873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,1]]}}}