Concepedia

Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)

Dineke Westra, Elena B. Volokhina, Erik H.F.M. van der Heijden, Ann Vos, Marco Huigen, Jitske Jansen, Edwin van Kaauwen, Thea J. A. M. van der Velden, Nicole C. A. J. van de Kar, Lambertus P. van den Heuvel

Nephrology Dialysis Transplantation · 2010 · 86 citations · 36 references

DOIFull text

Open access

Abstract

Genetic abnormalities or the presence of alphaFH were detected in 31.9% of the aHUS patients. Furthermore, bigenic mutations were present, indicating that routine DNA mutation analysis of all complement factors associated with aHUS is important.

References

36

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

, , +11

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Jessica Caprioli, Marina Noris, Simona Brioschi et al. · Blood · 2006 · 729 citations · Full text

Thrombomodulin Mutations in Atypical Hemolytic–Uremic Syndrome

Mieke Delvaeye, Marina Noris, Astrid De Vriese et al. · New England Journal of Medicine · 2009 · 542 citations · Full text

Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome

David Kavanagh, Elizabeth J. Kemp, Elizabeth Mayland et al. · Journal of the American Society of Nephrology · 2005 · 473 citations

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

Elena Goicoechea de Jorge, Claire L. Harris, Jorge Esparza-Gordillo et al. · Proceedings of the National Academy of Sciences · 2006 · 443 citations · Full text

, , +17