Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? (Q33414109)

26 July 2017

title

Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? (English)

1 reference

Véronique Frémeaux-Bacchi

26 July 2017

author

15

Veronique Fremeaux-Bacchi

1 reference

26 July 2017

Lise Halbwachs-Mecarelli

13

Lise Halbwachs-Mecarelli

0 references

Laura Vergoz

Laura Vergoz

2

0 references

Anastas Pashov

Anastas Pashov

6

0 references

Lubka T. Roumenina

Lubka T Roumenina

16

0 references

Richard J Smith

Richard J Smith

11

0 references

author name string

Maria Chiara Marinozzi

1

1 reference

26 July 2017

Tania Rybkine

3

1 reference

26 July 2017

Stephanie Ngo

4

1 reference

26 July 2017

Serena Bettoni

5

1 reference

26 July 2017

Mathieu Cayla

7

1 reference

26 July 2017

Fanny Tabarin

8

1 reference

26 July 2017

Mathieu Jablonski

9

1 reference

26 July 2017

Christophe Hue

10

1 reference

26 July 2017

Marina Noris

12

1 reference

26 July 2017

Lise Halbwachs-Mecarelli

13

1 reference

26 July 2017

Roberta Donadelli

14

1 reference

26 July 2017

publication date

20 March 2014

1 reference

Journal of the American Society of Nephrology

26 July 2017

published in

1 reference

26 July 2017

volume

25

1 reference

26 July 2017

issue

9

1 reference

26 July 2017

page(s)

2053-2065

1 reference

Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS).

26 July 2017

cites work

1 reference

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Eculizumab in an anephric patient with atypical haemolytic uraemic syndrome and advanced vascular lesions

14 July 2018

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Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome

14 July 2018

1 reference

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Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome

14 July 2018

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Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome

14 July 2018

1 reference

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Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B.

14 July 2018

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Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

14 July 2018

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Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome

14 July 2018

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Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults

14 July 2018

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Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies

14 July 2018

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14 July 2018

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

14 July 2018

1 reference

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Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome

14 July 2018

1 reference

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Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance

14 July 2018

1 reference

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Alternative complement pathway assessment in patients with atypical HUS.

14 July 2018

1 reference

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

14 July 2018

1 reference

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New insights into postrenal transplant hemolytic uremic syndrome.

14 July 2018

1 reference

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

14 July 2018

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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A method and server for predicting damaging missense mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

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

14 July 2018

1 reference

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Atypical hemolytic-uremic syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

14 July 2018

1 reference

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome

14 July 2018

1 reference

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Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

14 July 2018

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The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Factor B structure provides insights into activation of the central protease of the complement system

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Does complement factor B have a role in the pathogenesis of atypical HUS?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Mutations of the type A domain of complement factor B that promote high-affinity C3b-binding.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147975

Time-limit tests: estimating their reliability and degree of speeding

14 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24652797

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2013070796

1 reference

26 July 2017

1 reference

26 July 2017

1 reference