Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome (Q28267924)

9

Véronique Frémeaux-Bacchi

Marie-Anne Rameix-Welti

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14

Veronique Fremeaux-Bacchi

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Marie-Agnès Dragon-Durey

2

Marie-Agnes Dragon-Durey

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Frank Bienaimé

Frank Bienaime

1

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Nicolas Renault

Nicolas Renault

8

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Catherine H Regnier

Catherine H Regnier

3

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Bruno O Villoutreix

Bruno O Villoutreix

12

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Catherine Sautès-Fridman

Catherine Sautés-Fridman

11

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Anna M. Blom

Anna M Blom

13

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author name string

Marie-Agnes Dragon-Durey

2

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Sara C Nilsson

4

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Wing H Kwan

5

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Jacques Blouin

6

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Mathieu Jablonski

Inherited complement regulatory protein deficiency predisposes to human disease in acute injury and chronic inflammatory statesthe examples of vascular damage in atypical hemolytic uremic syndrome and debris accumulation in age-related macular degen

7

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language of work or name

English

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publication date

February 2010

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published in

Kidney International

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volume

77

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page(s)

339-49

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issue

4

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cites work

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Atypical haemolytic uraemic syndrome and mutations in complement regulator genes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Thrombomodulin mutations in atypical hemolytic-uremic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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/10.1038%2FKI.2009.472

7 January 2021

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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/10.1038%2FKI.2009.472

7 January 2021

Complement. First of two parts

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Mapping of the human complement factor I gene to 4q25

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Complement regulatory genes and hemolytic uremic syndromes

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The molecular basis of hereditary complement factor I deficiency

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Factor H family proteins and human diseases

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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/10.1038%2FKI.2009.472

7 January 2021

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

CHARMM: A program for macromolecular energy, minimization, and dynamics calculations

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Evaluating conformational free energies: the colony energy and its application to the problem of loop prediction

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Crystal structure of a scavenger receptor cysteine-rich domain sheds light on an ancient superfamily

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The crystal structure of the catalytic domain of human urokinase-type plasminogen activator

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The factor VII zymogen structure reveals reregistration of beta strands during activation

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Filling small, empty protein cavities: structural and energetic consequences.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

The response of T4 lysozyme to large-to-small substitutions within the core and its relation to the hydrophobic effect.

1 reference

https://api.crossref.org/works/10.1038%2FKI.2009.472

7 January 2021

Identifiers

DOI

10.1038/KI.2009.472

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

3231019

1053630731

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3231019

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference