{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:17:39Z","timestamp":1791206259646,"version":"4.1.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T00:00:00Z","timestamp":1337817600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2012,7]]},"DOI":"10.1038\/jhg.2012.57","type":"journal-article","created":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T11:37:45Z","timestamp":1337945865000},"page":"459-464","source":"Crossref","is-referenced-by-count":42,"title":["Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene"],"prefix":"10.1038","volume":"57","author":[{"given":"Dineke","family":"Westra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A","family":"Vernon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena B","family":"Volokhina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew C","family":"Pickering","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole C A J","family":"van de Kar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lambert P","family":"van den Heuvel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,5,24]]},"reference":[{"key":"BFjhg201257_CR1","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1056\/NEJM199508103330608","volume":"333","author":"TG Boyce","year":"1995","unstructured":"Boyce, T. G., Swerdlow, D. L., Griffin, P. M. Escherichia coli O157:H7 and the hemolytic-uremic syndrome. N. Engl. J. Med. 333, 364\u2013368 (1995).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201257_CR2","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1681\/ASN.V961126","volume":"9","author":"BS Kaplan","year":"1998","unstructured":"Kaplan, B. S., Meyers, K. E., Schulman, S. L. The pathogenesis and treatment of hemolytic uremic syndrome. J. Am. Soc. Nephrol. 9, 1126\u20131133 (1998).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg201257_CR3","doi-asserted-by":"publisher","first-page":"1542","DOI":"10.1016\/S0140-6736(03)14742-3","volume":"362","author":"M Noris","year":"2003","unstructured":"Noris, M., Brioschi, S., Caprioli, J., Todeschini, M., Bresin, E., Porrati, F. et al. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362, 1542\u20131547 (2003).","journal-title":"Lancet"},{"key":"BFjhg201257_CR4","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1182\/blood-2005-10-007252","volume":"108","author":"J Caprioli","year":"2006","unstructured":"Caprioli, J., Noris, M., Brioschi, S., Pianetti, G., Castelletti, F., Bettinaglio, P. et al. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108, 1267\u20131279 (2006).","journal-title":"Blood"},{"key":"BFjhg201257_CR5","doi-asserted-by":"publisher","first-page":"e84","DOI":"10.1136\/jmg.2004.019083","volume":"41","author":"V Fremeaux-Bacchi","year":"2004","unstructured":"Fremeaux-Bacchi, V., Dragon-Durey, M. A., Blouin, J., Vigneau, C., Kuypers, D., Boudailliez, B. et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J. Med. Genet. 41, e84 (2004).","journal-title":"J. Med. Genet."},{"key":"BFjhg201257_CR6","doi-asserted-by":"publisher","first-page":"2195","DOI":"10.1093\/ndt\/gfq010","volume":"25","author":"D Westra","year":"2010","unstructured":"Westra, D., Volokhina, E., van der Heijden, E., Vos, A., Huigen, M., Jansen, J. et al. Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Nephrol. Dial Transplant. 25, 2195\u20132202 (2010).","journal-title":"Nephrol. Dial Transplant."},{"key":"BFjhg201257_CR7","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1073\/pnas.0603420103","volume":"104","author":"JE Goicoechea de","year":"2007","unstructured":"Goicoechea de, J. E., Harris, C. L., Esparza-Gordillo, J., Carreras, L., Arranz, E. A., Garrido, C.A et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc. Natl Acad. Sci. USA 104, 240\u2013245 (2007).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201257_CR8","doi-asserted-by":"publisher","first-page":"4948","DOI":"10.1182\/blood-2008-01-133702","volume":"112","author":"V Fremeaux-Bacchi","year":"2008","unstructured":"Fremeaux-Bacchi, V., Miller, E. C., Liszewski, M. K., Strain, L., Blouin, J., Brown, A. L. et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112, 4948\u20134952 (2008).","journal-title":"Blood"},{"key":"BFjhg201257_CR9","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1056\/NEJMoa0810739","volume":"361","author":"M Delvaeye","year":"2009","unstructured":"Delvaeye, M., Noris, M., De, V.A., Esmon, C.T., Esmon, N.L., Ferrell, G. et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N. Engl. J. Med. 361, 345\u2013357 (2009).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201257_CR10","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1182\/blood-2007-09-109876","volume":"111","author":"M Jozsi","year":"2008","unstructured":"Jozsi, M., Licht, C., Strobel, S., Zipfel, S. L., Richter, H., Heinen, S. et al. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1\/CFHR3 deficiency. Blood 111, 1512\u20131514 (2008).","journal-title":"Blood"},{"key":"BFjhg201257_CR11","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1056\/NEJMra0902814","volume":"361","author":"M Noris","year":"2009","unstructured":"Noris, M., Remuzzi, G. Atypical hemolytic-uremic syndrome. N. Engl. J. Med. 361, 1676\u20131687 (2009).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201257_CR12","doi-asserted-by":"publisher","first-page":"6747","DOI":"10.1074\/jbc.M007495200","volume":"276","author":"JL McRae","year":"2001","unstructured":"McRae, J. L., Cowan, P. J., Power, D. A., Mitchelhill, K. I., Kemp, B. E., Morgan, B. P. et al. Human factor H-related protein 5 (FHR-5). A new complement-associated protein. J. Biol. Chem. 276, 6747\u20136754 (2001).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201257_CR13","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1053\/ajkd.2002.29873","volume":"39","author":"B Murphy","year":"2002","unstructured":"Murphy, B., Georgiou, T., Machet, D., Hill, P., McRae, J. Factor H-related protein-5: a novel component of human glomerular immune deposits. Am. J. Kidney. Dis. 39, 24\u201327 (2002).","journal-title":"Am. J. Kidney. Dis."},{"key":"BFjhg201257_CR14","doi-asserted-by":"publisher","first-page":"6250","DOI":"10.4049\/jimmunol.174.10.6250","volume":"174","author":"JL McRae","year":"2005","unstructured":"McRae, J. L., Duthy, T. G., Griggs, K. M., Ormsby, R. J., Cowan, P. J., Cromer, B. A. et al. Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein. J. Immunol 174, 6250\u20136256 (2005).","journal-title":"J. Immunol"},{"key":"BFjhg201257_CR15","doi-asserted-by":"publisher","first-page":"1704","DOI":"10.1016\/j.molimm.2006.08.004","volume":"44","author":"G Monteferrante","year":"2007","unstructured":"Monteferrante, G., Brioschi, S., Caprioli, J., Pianetti, G., Bettinaglio, P., Bresin, E. et al. Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome. Mol. Immunol. 44, 1704\u20131708 (2007).","journal-title":"Mol. Immunol."},{"key":"BFjhg201257_CR16","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1136\/jmg.2005.038315","volume":"43","author":"MA Abrera-Abeleda","year":"2006","unstructured":"Abrera-Abeleda, M. A., Nishimura, C., Smith, J. L., Sethi, S., McRae, J. L., Murphy, B. F. et al. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J. Med. Genet. 43, 582\u2013589 (2006).","journal-title":"J. Med. Genet."},{"key":"BFjhg201257_CR17","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1016\/S0140-6736(10)60670-8","volume":"376","author":"DP Gale","year":"2010","unstructured":"Gale, D. P., de Jorge, E. G., Cook, H. T., Martinez-Barricarte, R., Hadjisavvas, A., McLean, A. G. et al. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet 376, 794\u2013801 (2010).","journal-title":"Lancet"},{"key":"BFjhg201257_CR18","first-page":"731","volume":"15","author":"U Narendra","year":"2009","unstructured":"Narendra, U., Pauer, G. J., Hagstrom, S. A. Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. Mol. Vis. 15, 731\u2013736 (2009).","journal-title":"Mol. Vis."},{"issue":"Suppl 8","key":"BFjhg201257_CR19","doi-asserted-by":"publisher","first-page":"I9","DOI":"10.1016\/j.vaccine.2008.11.021","volume":"26","author":"C Skerka","year":"2008","unstructured":"Skerka, C., Zipfel, P. F. Complement factor H related proteins in immune diseases. Vaccine 26 (Suppl 8), I9\u201314 (2008).","journal-title":"Vaccine"},{"key":"BFjhg201257_CR20","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1242\/dmm.008052","volume":"4","author":"DP Gale","year":"2011","unstructured":"Gale, D. P., Pickering, M. C. Regulating complement in the kidney: insights from CFHR5 nephropathy. Dis. Model Mech. 4, 721\u2013726 (2011).","journal-title":"Dis. Model Mech."},{"key":"BFjhg201257_CR21","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1056\/NEJMc0808527","volume":"360","author":"J Nurnberger","year":"2009","unstructured":"Nurnberger, J., Philipp, T., Witzke, O., Opazo, S.A., Vester, U., Baba, H.A. et al. Eculizumab for atypical hemolytic-uremic syndrome. N. Engl. J. Med. 360, 542\u2013544 (2009).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg201257_CR22","doi-asserted-by":"publisher","first-page":"E1445","DOI":"10.1002\/humu.21256","volume":"31","author":"TK Maga","year":"2010","unstructured":"Maga, T. K., Nishimura, C. J., Weaver, A. E., Frees, K. L., Smith, R. J. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum. Mutat. 31, E1445\u2013E1460 (2010).","journal-title":"Hum. Mutat."},{"key":"BFjhg201257_CR23","doi-asserted-by":"publisher","first-page":"3385","DOI":"10.1093\/hmg\/ddg363","volume":"12","author":"J Caprioli","year":"2003","unstructured":"Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G. 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. 12, 3385\u20133395 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg201257_CR24","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1093\/hmg\/ddi066","volume":"14","author":"J Esparza-Gordillo","year":"2005","unstructured":"Esparza-Gordillo, J., Goicoechea de, J. E., Buil, A., Carreras, B. L., Lopez-Trascasa, M., Sanchez-Corral, P. 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. 14, 703\u2013712 (2005).","journal-title":"Hum. Mol. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201257.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201257","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201257.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:30:44Z","timestamp":1684431044000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,24]]},"references-count":24,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2012,7]]}},"alternative-id":["BFjhg201257"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2012.57","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,24]]}}}