A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function (Q33399198)

26 July 2017

title

A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function (English)

1 reference

Véronique Frémeaux-Bacchi

26 July 2017

author

17

Veronique Fremeaux-Bacchi

1 reference

26 July 2017

Marie-Agnès Dragon-Durey

5

Marie-Agnes Dragon-Durey

1 reference

26 July 2017

Lise Halbwachs-Mecarelli

14

Lise Halbwachs-Mecarelli

1 reference

26 July 2017

Catherine Sautès-Fridman

13

Catherine Sautes-Fridman

0 references

Peter Mathieson

10

Peter W Mathieson

1 reference

26 July 2017

Marie Frimat

2

0 references

Lubka T. Roumenina

Lubka T Roumenina

1

0 references

Christophe Hue

8

Christophe Hue

1 reference

26 July 2017

9

Simon C Satchell

1 reference

26 July 2017

4

Francois Provot

1 reference

26 July 2017

6

Pauline Bordereau

1 reference

26 July 2017

7

Sylvain Bigot

1 reference

26 July 2017

11

Christiane Mousson

1 reference

26 July 2017

16

Arnaud Lionet

1 reference

26 July 2017

Elizabeth C Miller

3

1 reference

26 July 2017

Christian Noel

12

1 reference

26 July 2017

John P Atkinson

15

1 reference

26 July 2017

language of work or name

English

0 references

publication date

13 January 2012

1 reference

26 July 2017

1 reference

26 July 2017

volume

119

1 reference

26 July 2017

issue

18

1 reference

26 July 2017

page(s)

4182-4191

1 reference

Alternative complement pathway assessment in patients with atypical HUS.

26 July 2017

cites work

1 reference

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Structures of C3b in complex with factors B and D give insight into complement convertase formation

21 June 2018

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Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome

21 June 2018

1 reference

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Structure of the Extracellular Portion of CD46 Provides Insights into Its Interactions with Complement Proteins and Pathogens

21 June 2018

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New treatment options for atypical hemolytic uremic syndrome with the complement inhibitor eculizumab

21 June 2018

1 reference

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Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes

21 June 2018

1 reference

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Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

21 June 2018

1 reference

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21 June 2018

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Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

21 June 2018

1 reference

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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

21 June 2018

1 reference

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Myocardial infarction is a complication of factor H-associated atypical HUS.

21 June 2018

1 reference

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Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations

21 June 2018

1 reference

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Coexistence of closed and open conformations of complement factor B in the alternative pathway C3bB(Mg2+) proconvertase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Atypical hemolytic-uremic syndrome

21 June 2018

1 reference

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Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

21 June 2018

1 reference

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A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure

21 June 2018

1 reference

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

21 June 2018

1 reference

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Insights into complement convertase formation based on the structure of the factor B-cobra venom factor complex

21 June 2018

1 reference

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Complement inhibitor eculizumab in atypical hemolytic uremic syndrome

21 June 2018

1 reference

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Structure of complement fragment C3b-factor H and implications for host protection by complement regulators

21 June 2018

1 reference

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Structural and functional implications of the alternative complement pathway C3 convertase stabilized by a staphylococcal inhibitor

21 June 2018

1 reference

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3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase.

21 June 2018

1 reference

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

21 June 2018

1 reference

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

21 June 2018

1 reference

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Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

21 June 2018

1 reference

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Dilated cardiomyopathy during the course of hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Structure of C3b reveals conformational changes that underlie complement activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Conditionally immortalized human glomerular endothelial cells expressing fenestrations in response to VEGF.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Structures of complement component C3 provide insights into the function and evolution of immunity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

UCSF Chimera--a visualization system for exploratory research and analysis

21 June 2018

1 reference

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Heterogeneity of atypical haemolytic uraemic syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

The cytolytically inactive terminal complement complex activates endothelial cells to express adhesion molecules and tissue factor procoagulant activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Extrarenal involvement in diarrhoea-associated haemolytic-uraemic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Monoclonal antibodies against the complement control protein Factor H (β1 H)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Characterization of three monoclonal antibodies to membrane co-factor protein (MCP) of the complement system and quantification of MCP by radioassay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Dilated cardiomyopathy during post-partum hemolytic and uremic syndrome (HUS)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3359738

Complement-endothelial cell interactions: pathophysiological implications

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22246034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Recurrent ventricular tachycardia complicating atypical haemolytic-uraemic syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22246034

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2011-10-383281

1 reference

26 July 2017

1 reference

26 July 2017

1 reference