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Tytuł oryginału: Alternative end joining during switch recombination in patients with Ataxia-Teleangiectasia.
Autorzy: Pan Qiang, Petit-Fr‚re Corinne, L„hdesm„ki Aleksi, Gregorek Hanna, Chrzanowska Krystyna H., Hammarstr”m Lennart
Źródło: Eur. J. Immunol. 2002: 32 (5) s.1300-1308, il., tab., bibliogr. 48 poz.
Sygnatura GBL: 312,318

Hasła klasyfikacyjne GBL:
  • genetyka
  • immunologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: Ataxia-Teleangiectasia (A-T) and Nimegen breakage syndrome (NBS) are recessive genetic diseases with similar cellular phenotypes that caused by mutations in the recently described ATM (encoding ATM) and NBS1 (encoding p95) genes, respectively. Both disorders are accompanied by immunodeficiency in a majority of patients, but the mechanism involved has as yet not been established. We demonstrate that in cells from A-T patients, the switch (S) recombination junctions are aberrant and characterized by a strong dependence on short sequence homologies and devoid of normally occurring mutations around the breakpoint. A low number of S fragments were generated in cells from NBS patients and showed only limited dependence on sequence identify and mutation frequencies were similar to those observed in normal controls. We propose that ATM and p95 are both involved in the final (step(s) in class switch recombination with related, but disparate, functional roles. Thus, the general pathway involved in DNA repair also has a major influence on the immunoglobulin isotype switching process.

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