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Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation
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Europe PubMed Central
PubMed publication ID
21270828
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21270828%20AND%20SRC:MED&resulttype=core&format=json
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21 January 2020
title
Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation
(English)
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Europe PubMed Central
PubMed publication ID
21270828
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21 January 2020
main subject
immunology
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glomerulonephritis
1 reference
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Isodisomy
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author
Peter Garred
series ordinal
7
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Europe PubMed Central
PubMed publication ID
21270828
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21 January 2020
author name string
L Schejbel
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1
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PubMed publication ID
21270828
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21 January 2020
I M Schmidt
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2
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21270828
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21 January 2020
M Kirchhoff
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3
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PubMed publication ID
21270828
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21 January 2020
C B Andersen
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4
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PubMed publication ID
21270828
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21 January 2020
H V Marquart
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5
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21270828
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21 January 2020
P Zipfel
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6
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21270828
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21 January 2020
publication date
27 January 2011
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21270828
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retrieved
21 January 2020
published in
Genes and Immunity
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Europe PubMed Central
PubMed publication ID
21270828
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21 January 2020
volume
12
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Europe PubMed Central
PubMed publication ID
21270828
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21270828%20AND%20SRC:MED&resulttype=core&format=json
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21 January 2020
issue
2
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PubMed publication ID
21270828
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retrieved
21 January 2020
page(s)
90-99
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Europe PubMed Central
PubMed publication ID
21270828
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21270828%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
exact match
https://scigraph.springernature.com/pub.10.1038/gene.2010.63
0 references
cites work
Complement. First of two parts
1 reference
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Crossref
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Complement activation and inhibition: a delicate balance.
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
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Ontogeny of complement regulatory proteins - concentrations of factor h, factor I, c4b-binding protein, properdin and vitronectin in healthy children of different ages and in adults
1 reference
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https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
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Human factor H-related protein 5 (FHR-5). A new complement-associated protein
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
The factor H protein family
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Host recognition and target differentiation by factor H, a regulator of the alternative pathway of complement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Activator-specific requirement of properdin in the initiation and amplification of the alternative pathway complement
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Properdin can initiate complement activation by binding specific target surfaces and providing a platform for de novo convertase assembly
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Membrane cofactor protein (MCP or CD46): newest member of the regulators of complement activation gene cluster
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Role of membrane cofactor protein (CD46) in regulation of C4b and C3b deposited on cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Complement and diseases: defective alternative pathway control results in kidney and eye diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
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7 January 2021
based on heuristic
inferred from DOI database lookup
Thrombomodulin mutations in atypical hemolytic-uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hemolytic uremic syndrome recurrence after renal transplantation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complement factor H polymorphism and age-related macular degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complement factor H polymorphism in age-related macular degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complement factor H polymorphism in age-related macular degeneration.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RegRNA: an integrated web server for identifying regulatory RNA motifs and elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of an NF-kappaB-regulated, miRNA-146a-mediated down-regulation of complement factor H (CFH) in metal-sulfate-stressed human brain cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Uniparental paternal disomy in Angelman's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Zellweger syndrome resulting from maternal isodisomy of chromosome 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Organization of the genes encoding complement receptors type 1 and 2, decay-accelerating factor, and C4-binding protein in the RCA locus on human chromosome 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Translational mini-review series on complement factor H: structural and functional correlations for factor H.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dense deposit disease is not a membranoproliferative glomerulonephritis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of the classical, alternative, and MBL pathways of the complement system: standardization and validation of a simple ELISA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Staphylococcus aureus protein Sbi acts as a complement inhibitor and forms a tripartite complex with host complement Factor H and C3b
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FGENE.2010.63
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/GENE.2010.63
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21270828
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21270828%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
Dimensions Publication ID
1020135857
0 references
PubMed publication ID
21270828
1 reference
stated in
Europe PubMed Central
PubMed publication ID
21270828
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21270828%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 January 2020
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