Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome
Open Access
- 15 January 2008
- journal article
- Published by American Society of Hematology in Blood
- Vol. 111 (2), 624-632
- https://doi.org/10.1182/blood-2007-04-084533
Abstract
The hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Genetic studies demonstrate that heKeywords
This publication has 40 references indexed in Scilit:
- Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndromeJournal of Medical Genetics, 2006
- Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndromeMolecular Immunology, 2006
- Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcomeBlood, 2006
- Genetic and Functional Analyses of Membrane Cofactor Protein (CD46) Mutations in Atypical Hemolytic Uremic SyndromeJournal of the American Society of Nephrology, 2006
- Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32Human Molecular Genetics, 2005
- 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 diseaseHuman Molecular Genetics, 2003
- Novel Role for a Complement Regulatory Protein (CD46) in Retinal Pigment Epithelial AdhesionInvestigative Opthalmology & Visual Science, 2003
- Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell RecognitionAmerican Journal of Human Genetics, 2001
- Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic SyndromeAmerican Journal of Human Genetics, 2001
- Control of C3b and C5b deposition by CD46 (membrane cofactor protein) after alternative but not classical complement activationEuropean Journal of Immunology, 1999