(Q28263131)

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Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I

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Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I (English)

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atypical hemolytic uremic syndrome

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Véronique Frémeaux-Bacchi

4

object named as

Veronique Fremeaux-Bacchi

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Leendert A Trouw

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Leendert A Trouw

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Bruno O Villoutreix

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Bruno O Villoutreix

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Anna M Blom

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author name string

Sara C Nilsson

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Nikolina Kalchishkova

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language of work or name

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publication date

January 2010

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European Journal of Immunology

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40

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1

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172-85

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Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

21 January 2018

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

21 January 2018

Purification of human C4b-binding protein and formation of its complex with vitamin K-dependent protein S

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https://api.crossref.org/works/10.1002%2FEJI.200939280

21 January 2018

Hemolytic Uremic Syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Atypical haemolytic uraemic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Where next with atypical hemolytic uremic syndrome?

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Complement. First of two parts

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https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Modulation of the classical pathway C3 convertase by plasma proteins C4 binding protein and C3b inactivator

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Control of the amplification convertase of complement by the plasma protein beta1H

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Purification and characterization of a membrane protein (gp45-70) that is a cofactor for cleavage of C3b and C4b.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Control of the function of substrate-bound C4b-C3b by the complement receptor Cr1

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Possible arrangement of the five domains in human complement factor I as determined by a combination of X-ray and neutron scattering and homology modeling.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Complement biosynthesis by the human hepatoma-derived cell line HepG2

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Biosynthesis of the complement components and the regulatory proteins of the alternative complement pathway by human peripheral blood monocytes

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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The molecular basis of hereditary complement factor I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Processing of human factor I in COS-1 cells co-transfected with factor I and paired basic amino acid cleaving enzyme (PACE) cDNA.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Genetic, molecular and functional analyses of complement factor I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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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 disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

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CCP1-4 of the C4b-binding protein alpha-chain are required for factor I mediated cleavage of complement factor C3b.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Functional Activity of the Complement Regulator Encoded by Kaposi's Sarcoma-associated Herpesvirus

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Non-small cell lung cancer cells produce a functional set of complement factor I and its soluble cofactors.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Crystal structure of a pair of follistatin-like and EF-hand calcium-binding domains in BM-40.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200939280

7 January 2021

based on heuristic

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10.1002/EJI.200939280

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