{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:02:09Z","timestamp":1791147729284,"version":"4.1.0"},"reference-count":13,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2008,8]]},"DOI":"10.1053\/j.ajkd.2008.02.359","type":"journal-article","created":{"date-parts":[[2008,6,3]],"date-time":"2008-06-03T04:13:50Z","timestamp":1212466430000},"page":"e5-e9","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":23,"title":["Inherited Deficiency of Membrane Cofactor Protein Expression and Varying Manifestations of Recurrent Atypical Hemolytic Uremic Syndrome in a Sibling Pair"],"prefix":"10.1053","volume":"52","author":[{"given":"Lionel","family":"Couzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Contin-Bordes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Marliot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Sarrat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Grimal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Fran\u00e7ois","family":"Moreau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Merville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Fremeaux-Bacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.ajkd.2008.02.359_bib1","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1073\/pnas.0603420103","article-title":"Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome","volume":"104","author":"Goicoechea de Jorge","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.ajkd.2008.02.359_bib2","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s00281-005-0003-2","article-title":"Atypical haemolytic uraemic syndrome and mutations in complement regulator genes","volume":"27","author":"Dragon-Durey","year":"2005","journal-title":"Springer Semin Immunopathol"},{"key":"10.1053\/j.ajkd.2008.02.359_bib3","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1371\/journal.pgen.0030041","article-title":"Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome","volume":"3","author":"Zipfel","year":"2007","journal-title":"PLoS Genet"},{"key":"10.1053\/j.ajkd.2008.02.359_bib4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.molimm.2006.07.004","article-title":"Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome","volume":"44","author":"Richards","year":"2007","journal-title":"Mol Immunol"},{"key":"10.1053\/j.ajkd.2008.02.359_bib5","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1046\/j.1523-1755.1998.00130.x","article-title":"Complement regulatory proteins in glomerular diseases","volume":"54","author":"Nangaku","year":"1998","journal-title":"Kidney Int"},{"key":"10.1053\/j.ajkd.2008.02.359_bib6","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1002\/eji.1830240711","article-title":"Identification and characterization of membrane cofactor protein (CD46) in the human kidneys","volume":"24","author":"Nakanishi","year":"1994","journal-title":"Eur J Immunol"},{"key":"10.1053\/j.ajkd.2008.02.359_bib7","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1182\/blood-2005-10-007252","article-title":"Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome","volume":"108","author":"Caprioli","year":"2006","journal-title":"Blood"},{"key":"10.1053\/j.ajkd.2008.02.359_bib8","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1681\/ASN.2005101051","article-title":"Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome","volume":"17","author":"Fremeaux-Bacchi","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2008.02.359_bib9","doi-asserted-by":"crossref","first-page":"12966","DOI":"10.1073\/pnas.2135497100","article-title":"Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome","volume":"100","author":"Richards","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.ajkd.2008.02.359_bib10","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1097\/01.ASN.0000115702.28859.A7","article-title":"Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genetic analysis of 16 cases","volume":"15","author":"Dragon-Durey","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2008.02.359_bib11","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1053\/j.ajkd.2006.10.022","article-title":"Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy","volume":"49","author":"Fremeaux-Bacchi","year":"2007","journal-title":"Am J Kidney Dis"},{"key":"10.1053\/j.ajkd.2008.02.359_bib12","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1093\/hmg\/ddi066","article-title":"Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32","volume":"14","author":"Esparza-Gordillo","year":"2005","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.ajkd.2008.02.359_bib13","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1016\/j.molimm.2005.11.008","article-title":"Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree","volume":"43","author":"Esparza-Gordillo","year":"2006","journal-title":"Mol Immunol"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638608006999?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638608006999?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:50:44Z","timestamp":1759456244000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638608006999"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["S0272638608006999"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2008.02.359","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2008,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Inherited Deficiency of Membrane Cofactor Protein Expression and Varying Manifestations of Recurrent Atypical Hemolytic Uremic Syndrome in a Sibling Pair","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2008.02.359","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}