Mutations in CD46, a complement regulatory protein, predispose to atypical HUS
THJ Goodship, MK Liszewski, EJ Kemp… - Trends in molecular …, 2004 - cell.com
Membrane cofactor protein (MCP, CD46) is a widely expressed transmembrane
complement regulator. As does the soluble regulator factor H, it inhibits complement …
complement regulator. As does the soluble regulator factor H, it inhibits complement …
Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H
P Sánchez-Corral, C Gonzalez-Rubio… - Molecular …, 2004 - Elsevier
A subgroup of patients with the most severe form of the Hemolytic Uremic Syndrome (HUS)
presents mutations in the complement regulatory protein factor H. The functional analyses of …
presents mutations in the complement regulatory protein factor H. The functional analyses of …
[HTML][HTML] Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome
M Le Quintrec, J Zuber, B Moulin, N Kamar… - American Journal of …, 2013 - Elsevier
Atypical hemolytic and uremic syndrome (aHUS) is a severe disease strongly associated
with genetic abnormalities in the complement alternative pathway. In renal …
with genetic abnormalities in the complement alternative pathway. In renal …
Cutting edge: localization of the host recognition functions of complement factor H at the carboxyl-terminal: implications for hemolytic uremic syndrome
MK Pangburn - The Journal of Immunology, 2002 - journals.aai.org
Incidents of hemolytic uremic syndrome (HUS) include a subset of patients that exhibit
mutations in C factor H. These mutations cluster in the C-terminal domains of factor H where …
mutations in C factor H. These mutations cluster in the C-terminal domains of factor H where …
[HTML][HTML] Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation
JM Saland, SH Emre, BL Shneider, C Benchimol… - American journal of …, 2006 - Elsevier
A male child initially presented with atypical hemolytic uremic syndrome (HUS) at the age of
4 months and progressed within weeks to end stage renal disease (ESRD). At the age of 2 …
4 months and progressed within weeks to end stage renal disease (ESRD). At the age of 2 …
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions
M Józsi, S Heinen, A Hartmann… - Journal of the …, 2006 - journals.lww.com
Atypical hemolytic uremic syndrome is a disease that is characterized by microangiopathic
hemolytic anemia, thrombocytopenia, and acute renal failure. Mutations in the complement …
hemolytic anemia, thrombocytopenia, and acute renal failure. Mutations in the complement …
A novel non-synonymous polymorphism (p. Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired …
AM Blom, F Bergstrom, M Edey… - The Journal of …, 2008 - journals.aai.org
Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by hemolytic
anemia, thrombocytopenia, and acute renal failure. Mutations, polymorphisms, and copy …
anemia, thrombocytopenia, and acute renal failure. Mutations, polymorphisms, and copy …
Atypical hemolytic uremic syndrome recurrence after kidney transplantation
D Matar, F Naqvi, LC Racusen, N Carter-Monroe… - …, 2014 - journals.lww.com
Background Atypical hemolytic uremic syndrome (aHUS) is a rare disease with a high
recurrence rate after kidney transplantation. In most cases, aHUS are caused by genetic …
recurrence rate after kidney transplantation. In most cases, aHUS are caused by genetic …
Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities
M NORIS, P RUGGENENTI, A PERNA… - Journal of the …, 1999 - journals.lww.com
Familial hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP)
carry a very poor outcome and have been reported in association with decreased serum …
carry a very poor outcome and have been reported in association with decreased serum …
[HTML][HTML] A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic …
Y Yoshida, T Miyata, M Matsumoto… - PLoS …, 2015 - journals.plos.org
For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic
syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC) …
syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC) …