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   DCLRE1Cbase
   Variation registry for  Artemis deficiency


DCLRE1Cbase mutation publications

[2010] [2008] [2003] [2001]

Search PubMed latest citations for DCLRE1C mutations

    2010

  • The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
    Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K
    Hum Mutat 2010(2): 197-207 [PubMed abstract].

  • Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.
    Rohr J, Pannicke U, Döring M, Schmitt-Graeff A, Wiech E, Busch A, Speckmann C, Müller I, Lang P, Handgretinger R, Fisch P, Schwarz K, Ehl S
    J Clin Immunol 2010(2): 314-20 [PubMed abstract].

    2008

  • A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
    Loh NR, Jadresic LP, Whitelaw A
    Acta Paediatr 2008(3): 379-81 [PubMed abstract].

    2003

  • Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
    Moshous D, Pannetier C, Chasseval Rd R, Deist Fl F, Cavazzana-Calvo M, Romana S, Macintyre E, Canioni D, Brousse N, Fischer A, Casanova JL, Villartay JP
    J Clin Invest 2003(3): 381-7 [PubMed abstract].

  • Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
    Noordzij JG, Verkaik NS, van der Burg M, van Veelen LR, de Bruin-Versteeg S, Wiegant W, Vossen JM, Weemaes CM, de Groot R, Zdzienicka MZ, van Gent DC, van Dongen JJ
    Blood 2003(4): 1446-52 [PubMed abstract].

  • Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
    Kobayashi N, Agematsu K, Sugita K, Sako M, Nonoyama S, Yachie A, Kumaki S, Tsuchiya S, Ochs HD, Sugita K, Fukushima Y, Komiyama A
    Hum Genet 2003(4): 348-52 [PubMed abstract].

    2001

  • Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
    Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, Tezcan I, Sanal O, Bertrand Y, Philippe N, Fischer A, de Villartay JP
    Cell 2001(2): 177-86 [PubMed abstract].