Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways

Clinical and Diagnostic Laboratory Immunology

Volumn 8, Issue 4, 2001, Pages 757-761

  Garcia Perez M A ^a   Allende, L M ^a   Corell, A ^a   Paz Artal, E ^a   Varela, P ^a   Lopez Goyanes A ^a   Garcia Martin F ^a   Vazquez R ^a   Sotoca, A ^a   Arnaiz Villena, A ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; NIBRIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA TELANGIECTASIA; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; CHROMOSOME FRAGILITY; DNA REPAIR; DNA STRAND BREAKAGE; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; IMMUNE RESPONSE; LYMPHOCYTE PROLIFERATION; MALE; MEMORY CELL; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRIORITY JOURNAL; RADIOSENSITIVITY; SECKEL SYNDROME; T LYMPHOCYTE ACTIVATION;

B-LYMPHOCYTES; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CELL CYCLE PROTEINS; CHILD; CHROMOSOME BREAKAGE; HUMANS; KARYOTYPING; LECTINS; LYMPHOCYTE ACTIVATION; MALE; MITOGENS; MUTATION; NUCLEAR PROTEINS; SYNDROME; T-LYMPHOCYTES; TETRADECANOYLPHORBOL ACETATE;

EID: 0034972592     PISSN: 1071412X     EISSN: None     Source Type: Journal    
DOI: 10.1128/CDLI.8.4.757-761.2001     Document Type: Article

References (34)

1. Immunodeficiency associated with anorexia nervosa is secondary and improves after refeeding
2. Primary immunodeficiency caused by mutations in the gene encoding the CD3-γ subunit of the T-lymphocyte receptor
3. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
4. Exon-2 nucleotide sequences, polymorphism and haplotype distribution of a new HLA-DRB gene: HLA-DRBσ
5. Possible new variants of the Nijmegen breakage syndrome
6. The Nijmegen breakage syndrome protein is essential for Mre11 phosphorylation upon DNA damage
7. Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia-telangiectasia
8. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
9. Immunodeficiency associated with DNA repair defects
10. The potential for isoenzyme-selective modulation of protein kinase C
11. Nijmegen breakage syndrome
12. Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instabilty; genetic relationship to ataxia-telangiectasia
13. Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation
14. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia
15. Ionizing radiation and UV induction of p53 protein by different pathways in ataxia-telangiectasia cells
16. Restriction endonuclease fingerprinting (REF): A sensitive method for screening mutations in long, contiguous segments of DNA
17. Ataxia-telangiectasia and cellular responses to DNA damage
18. Characterization of the signal transduction pathway mediating gamma ray-induced inhibition of DNA synthesis in human cells: Indirect evidence for involvement of calmodulin but not protein kinase C nor p53
19. Selective deficiency of CD4+/CD45RA+lymphocytes in patients with ataxia-telangiectasia
20. Expression and function of a variant T cell receptor complex lacking CD3-μ
21. Low IgG2 and polysaccharide response in a T cell receptor expression defect
22. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1 cM interval on chromosome 8q21
23. A single ataxia telangiectasia gene with a product similar to PI-3 Kinase
24. A rapid banding technique for human cytogenetics
25. Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart
26. Noncomplementation of radiation-induced chromosome aberrations in ataxia-telangiectasia/ataxia-telangiectasia-variant heterodikaryons
27. Nijmegen breakage syndrome
28. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
29. New link via a web of human genes
30. A new chromosomal instability disorder confirmed by complementation studies
31. Ataxia-telangiectasia in the British Isles. The clinical and laboratory features of 70 affected individuals
32. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response
33. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products