|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0012655,
umls-concept:C0019061,
umls-concept:C0056207,
umls-concept:C0085862,
umls-concept:C0205182,
umls-concept:C0285488,
umls-concept:C0332120,
umls-concept:C0599755,
umls-concept:C1299583,
umls-concept:C1521761,
umls-concept:C1527148,
umls-concept:C1549571,
umls-concept:C1608386
|
|
pubmed:issue |
11
|
|
pubmed:dateCreated |
2005-11-7
|
|
pubmed:abstractText |
In both familial and sporadic atypical haemolytic-uraemic syndrome (aHUS), mutations have been reported in regulators of the alternative complement pathway including factor H (CFH), membrane cofactor protein (MCP), and the serine protease factor I (IF). A characteristic feature of both MCP and CFH associated HUS is reduced penetrance and variable inheritance; one possible explanation for this is that functional changes in complement proteins act as modifiers.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
1468-6244
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
42
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
852-6
|
|
pubmed:dateRevised |
2008-11-20
|
|
pubmed:meshHeading |
pubmed-meshheading:15784724-Alleles,
pubmed-meshheading:15784724-Antigens, CD46,
pubmed-meshheading:15784724-Cohort Studies,
pubmed-meshheading:15784724-Complement Factor H,
pubmed-meshheading:15784724-Complement System Proteins,
pubmed-meshheading:15784724-DNA Primers,
pubmed-meshheading:15784724-Gene Frequency,
pubmed-meshheading:15784724-Genetic Predisposition to Disease,
pubmed-meshheading:15784724-Haplotypes,
pubmed-meshheading:15784724-Hemolytic-Uremic Syndrome,
pubmed-meshheading:15784724-Humans,
pubmed-meshheading:15784724-Mutation,
pubmed-meshheading:15784724-Polymorphism, Single Nucleotide,
pubmed-meshheading:15784724-Receptors, Complement
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
|
|
pubmed:affiliation |
Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, France.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
