Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome (Q33373674)

26 July 2017

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

1 reference

atypical hemolytic uremic syndrome

26 July 2017

1 reference

based on heuristic

inferred from title

corrigendum / erratum

Correction for Elena Goicoechea de Jorge et al., Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

0 references

author

Santiago Rodriguez de Córdoba

10

1 reference

26 July 2017

Margarita López-Trascasa

Margarita López-Trascasa

7

0 references

Pilar Sánchez-Corral

8

Pilar Sánchez-Corral

1 reference

26 July 2017

Jorge Esparza-Gordillo

3

Jorge Esparza-Gordillo

1 reference

Cynthia Abarrategui Garrido

26 July 2017

6

Cynthia Abarrategui Garrido

1 reference

26 July 2017

Elena Goicoechea de Jorge

1

1 reference

26 July 2017

Claire L Harris

2

1 reference

26 July 2017

Luis Carreras

4

1 reference

26 July 2017

Elena Aller Arranz

5

1 reference

26 July 2017

B Paul Morgan

9

1 reference

26 July 2017

language of work or name

English

0 references

publication date

20 December 2006

1 reference

Proceedings of the National Academy of Sciences of the United States of America

26 July 2017

6

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

26 July 2017

104

1 reference

26 July 2017

240-245

1 reference

26 July 2017

1

1 reference

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Does complement factor B have a role in the pathogenesis of atypical 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=1765442

Mutations in complement factor I predispose to development of 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=1765442

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Complement factor H polymorphism in age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Complement factor H polymorphism and age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Complement factor H variant increases the risk of age-related macular degeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

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=1765442

Complement factor I: a susceptibility gene for atypical 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=1765442

The human complement factor H: functional roles, genetic variations and disease associations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor 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=1765442

Structural analysis of engineered Bb fragment of complement factor B: insights into the activation mechanism of the alternative pathway C3-convertase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Crystal structure of the A domain from complement factor B reveals an integrin-like open conformation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Infection by Shiga toxin-producing Escherichia coli: an overview

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Familial haemolytic uraemic syndrome and an MCP mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial 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=1765442

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in 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=1765442

Structural and functional characterization of factor H mutations 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=1765442

Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Decay-accelerating factor (DAF), complement receptor 1 (CR1), and factor H dissociate the complement AP C3 convertase (C3bBb) via sites on the type A domain of Bb.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Clustering of missense mutations in the C-terminal region of factor H in 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=1765442

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Genetic studies into inherited and sporadic 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=1765442

Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

MHC Class III products: an electron microscopic study of the C3 convertases of human complement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1765442

Thrombotic Microangiopathies

21 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0603420103

Molecular dissection of interactions between components of the alternative pathway of complement and decay accelerating factor (CD55).

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0603420103

Genetic and environmental factors influencing the human factor H plasma levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0603420103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0603420103

21 January 2018

Identifiers

DOI

10.1073/PNAS.0603420103

1 reference

26 July 2017

0 references

1 reference

26 July 2017

1 reference