Familial haemolytic uraemic syndrome and an MCP mutation

M Noris, S Brioschi, J Caprioli, M Todeschini, E Bresin… - The Lancet, 2003 - thelancet.com
Background Mutations in factor H (HF1) have been reported in a consistent number of
diarrhoea-negative, non-Shiga toxin-associated cases of haemolytic uraemic syndrome …

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly …

J Caprioli, F Castelletti, S Bucchioni… - Human molecular …, 2003 - academic.oup.com
Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-
associated and diarrhoea-negative haemolytic uraemic syndrome (D− HUS). We analysed …

Atypical haemolytic uraemic syndrome and mutations in complement regulator genes

MA Dragon-Durey, V Frémeaux-Bacchi - Springer seminars in …, 2005 - Springer
Haemolytic uraemic syndrome (HUS) is a thrombotic microangiopathy (TMA) disorder
characterised by the association of haemolytic anaemia, thrombocytopenia and acute renal …

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

HPH Neumann, M Salzmann, B Bohnert-Iwan… - Journal of medical …, 2003 - jmg.bmj.com
Background: The aetiology of atypical haemolytic uraemic syndrome (aHUS) is, in contrast
to classical, Shiga-like toxin induced HUS in children, largely unknown. Deficiency of human …

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome

D Pérez-Caballero, C González-Rubio… - The American Journal of …, 2001 - cell.com
Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to
microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases …

Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

PF Zipfel, M Edey, S Heinen, M Józsi, H Richter… - PLoS …, 2007 - journals.plos.org
Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement
regulation. Disease-associated mutations have been described in the genes encoding the …

Factor H mutations in hemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition

A Richards, MR Buddles, RL Donne, BS Kaplan… - The American Journal of …, 2001 - cell.com
Several recent studies have established an association between abnormalities of
complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To …

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

D Kavanagh, EJ Kemp, E Mayland… - Journal of the …, 2005 - journals.lww.com
Mutations in the plasma complement regulator factor H (CFH) and the transmembrane
complement regulator membrane co-factor protein (MCP) have been shown to predispose to …

Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.

P Warwicker, RL Donne, JA Goodship… - … official publication of …, 1999 - academic.oup.com
BACKGROUND: In a recent study of three families we have found that inherited haemolytic
uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for …

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome

L Ying, Y Katz, M Schlesinger, R Carmi… - The American Journal of …, 1999 - cell.com
Atypical hemolytic uremic syndrome (HUS) presents with the clinical features of
hypertension, microangiopathic hemolytic anemia, and acute renal failure. Both dominant …