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- databases for immunodeficiency-causing variations

   NHEJ1base
   Variation registry for  Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR


NHEJ1base mutation publications

[2010] [2006]

Search PubMed latest citations for NHEJ1 mutations

    2010

  • Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
    Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R
    Hum Mutat 2010(9): 1059-68 [PubMed abstract].

    2006

  • Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
    Buck D, Malivert L, de Chasseval R, Barraud A, Fondanèche MC, Sanal O, Plebani A, Stéphan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P
    Cell 2006(2): 287-99 [PubMed abstract].

  • XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining.
    Ahnesorg P, Smith P, Jackson SP
    Cell 2006(2): 301-13 [PubMed abstract].