Literature for peptidase S01.199: complement factor I

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

    2013
  1. Haerynck,F., Stordeur,P., Vandewalle,J., Van Coster,R., Bordon,V., De Baets,F., Schelstraete,P., Javaux,C., Bouvry,M.R., Fremeaux-Bacchi,V. and Dehoorne,J.
    Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis
    J Clin Immunol33, 1293-1301. PubMed  Europe PubMed DOI  M
  2. 2011
  3. Nita,I.M., Genel,F., Nilsson,S.C., Smart,J., Truedsson,L., Choo,S. and Blom,A.M.
    Molecular characterization of two novel cases of complete complement inhibitor factor I deficiency
    Mol Immunol48, 1068-1072. PubMed  Europe PubMed DOI  M
  4. Roversi,P., Johnson,S., Caesar,J.J., McLean,F., Leath,K.J., Tsiftsoglou,S.A., Morgan,B.P., Harris,C.L., Sim,R.B. and Lea,S.M.
    Structural basis for complement factor I control and its disease-associated sequence polymorphisms
    Proc Natl Acad Sci U S A108, 12839-12844. PubMed  Europe PubMed DOI  M
  5. 2010
  6. Nilsson,S.C., Kalchishkova,N., Trouw,L.A., Fremeaux-Bacchi,V., Villoutreix,B.O. and Blom,A.M.
    Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I
    Eur J Immunol40, 172-185. PubMed  Europe PubMed DOI  M
  7. 2009
  8. Nilsson,S.C., Trouw,L.A., Renault,N., Miteva,M.A., Genel,F., Zelazko,M., Marquart,H., Muller,K., Sjoholm,A.G., Truedsson,L., Villoutreix,B.O. and Blom,A.M.
    Genetic, molecular and functional analyses of complement factor I deficiency
    Eur J Immunol39, 310-323. PubMed  Europe PubMed DOI  M
  9. 2008
  10. Kavanagh,D., Richards,A., Noris,M., Hauhart,R., Liszewski,M.K., Karpman,D., Goodship,J.A., Fremeaux-Bacchi,V., Remuzzi,G., Goodship,T.H. and Atkinson,J.P.
    Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome
    Mol Immunol45, 95-105. PubMed  Europe PubMed DOI  M
  11. 2000
  12. Jiang,N. and Molina,H.
    Genomic organization of the serine protease light chain of mouse complement factor I gene
    IUBMB Life49, 109-112. PubMed  Europe PubMed DOI  M
  13. 1989
  14. Shiang,R., Murray,J.C., Morton,C.C., Buetow,K.H., Wasmuth,J.J., Olney,A.H., Sanger,W.G. and Goldberger,G.
    Mapping of the human complement factor I gene to 4q25
    Genomics4, 82-86. PubMed  Europe PubMed  M