(Q38304445)

English

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

scientific article published on 22 October 2014

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scholarly article

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Europe PubMed Central

1 September 2017

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3. (English)

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1 September 2017

3

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31 May 2020

author name string

Elizabeth Rodriguez

1

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31 May 2020

Pavithra M Rallapalli

2

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31 May 2020

Stephen J Perkins

4

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22 October 2014

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Bioscience Reports

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25 July 2019

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Positive selection during the evolution of the blood coagulation factors in the context of their disease-causing mutations

1 reference

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Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome

1 reference

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Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation

1 reference

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Rare complement factor H variant associated with age-related macular degeneration in the Amish

1 reference

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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

1 reference

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Molecular Interactions between Complement Factor H and Its Heparin and Heparan Sulfate Ligands.

1 reference

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Analysis of rare variants in the C3 gene in patients with age-related macular degeneration

1 reference

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Macrovascular involvement in a child with atypical hemolytic uremic syndrome

1 reference

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Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.

1 reference

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Complement C3 and its polymorphism: biological and clinical consequences

1 reference

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Update on hemolytic uremic syndrome: Diagnostic and therapeutic recommendations

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Structural insight on the recognition of surface-bound opsonins by the integrin I domain of complement receptor 3

1 reference

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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

1 reference

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Complement factor H related proteins (CFHRs)

1 reference

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The role of complement in Streptococcus pneumoniae-associated haemolytic uraemic syndrome

1 reference

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An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

1 reference

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

1 reference

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Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome

1 reference

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

1 reference

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Solution Structure of CCP Modules 10–12 Illuminates Functional Architecture of the Complement Regulator, Factor H

1 reference

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6 September 2017

Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206863

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Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding

1 reference

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6 September 2017

Bivalent and co-operative binding of complement factor H to heparan sulfate and heparin

1 reference

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Structural analysis of the C-terminal region (modules 18-20) of complement regulator factor H (FH)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206863

6 September 2017

A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome

1 reference

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

1 reference

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Complement factor H-ligand interactions: self-association, multivalency and dissociation constants.

1 reference

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Factor H gene variants in Japanese: its relation to atypical hemolytic uremic syndrome

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Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.

1 reference

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Structural basis for complement factor I control and its disease-associated sequence polymorphisms

1 reference

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Structural basis for engagement by complement factor H of C3b on a self surface

1 reference

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Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement

1 reference

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Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation

1 reference

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

1 reference

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Allosteric inhibition of complement function by a staphylococcal immune evasion protein

1 reference

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

1 reference

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

1 reference

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

1 reference

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Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome

1 reference

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The central portion of factor H (modules 10-15) is compact and contains a structurally deviant CCP module

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

1 reference

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Electrostatic interactions contribute to the folded-back conformation of wild type human factor H

1 reference

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

1 reference

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

1 reference

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Patterns of positive selection in six Mammalian genomes

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Basal laminar drusen caused by compound heterozygous variants in the CFH gene

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Structural basis for complement factor H linked age-related macular degeneration

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Complement C3 variant and the risk of age-related macular degeneration

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1 reference

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1 reference

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De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

1 reference

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1 reference

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

1 reference

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

1 reference

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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

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

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

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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

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Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

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Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome

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Endothelial cell activation

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Genetic studies into inherited and sporadic hemolytic uremic syndrome

1 reference

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6 September 2017

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

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The molecular basis of hereditary complement factor I deficiency

1 reference

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6 September 2017

Solution structure of a pair of complement modules by nuclear magnetic resonance

1 reference

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Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion

1 reference

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Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

1 reference

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Complement factor H binds at two independent sites to C-reactive protein in acute phase concentrations

1 reference

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A study of the structure of human complement component factor H by Fourier transform infrared spectroscopy and secondary structure averaging methods.

1 reference

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Molecular basis of polymorphisms of human complement component C3.

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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

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31 August 2018

Atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4206863

31 August 2018

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140117

21 January 2018

Dissecting Sites Important for Complement Regulatory Activity in Membrane Cofactor Protein (MCP; CD46)

1 reference

https://api.crossref.org/works/10.1042%2FBSR20140117

21 January 2018

Self-association and domain rearrangements between complement C3 and C3u provide insight into the activation mechanism of C3

1 reference

https://pubmed.ncbi.nlm.nih.gov/25188723

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The difference between human C3F and C3S results from a single amino acid change from an asparagine to an aspartate residue at position 1216 on the alpha chain of the complement component, C3

1 reference

https://pubmed.ncbi.nlm.nih.gov/25188723

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BSR20140117

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25188723%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25188723%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25188723%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

ResearchGate publication ID

0 references

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