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    A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.

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    Authors
    Malik, Talat H
    Lavin, Peter J
    Goicoechea de Jorge, Elena
    Vernon, Katherine A
    Rose, Kirsten L
    Patel, Mitali P
    de Leeuw, Marcel
    Neary, John J
    Conlon, Peter J
    Winn, Michelle P
    Pickering, Matthew C
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    Affiliation
    Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom. matthew.pickering@imperial.ac.uk.
    Issue Date
    2012-07
    
    Metadata
    Show full item record
    Citation
    A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy. 2012, 23 (7):1155-60 J. Am. Soc. Nephrol.
    Journal
    Journal of the American Society of Nephrology : JASN
    URI
    http://hdl.handle.net/10147/237977
    DOI
    10.1681/ASN.2012020166
    PubMed ID
    22626820
    Additional Links
    http://www.ncbi.nlm.nih.gov/pubmed?term=A%20Hybrid%20CFHR3-1%20Gene%20Causes%20Familial%20C3%20Glomerulopathy
    Abstract
    Controlled activation of the complement system, a key component of innate immunity, enables destruction of pathogens with minimal damage to host tissue. Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules. Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy. Here, we report an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3-1 gene. In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.
    Item Type
    Article
    Language
    en
    ISSN
    1533-3450
    ae974a485f413a2113503eed53cd6c53
    10.1681/ASN.2012020166
    Scopus Count
    Collections
    Tallaght University Hospital

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