A novel mutation and novel features in Nijmegen breakage syndrome [3]

Journal of Medical Genetics

Volumn 38, Issue 2, 2001, Pages 113-117

  Maraschio, P ^a   Danesino, C ^a   Antoccia, A ^a   Ricordy, R ^a   Tanzarella, C ^a   Varon, R ^a   Reis, A ^a   Besana, D ^a   Guala, A ^a   Tiepolo, L ^a  

^a NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CD4 ANTIGEN; CD8 ANTIGEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; PROTEIN P21; PROTEIN P53;

ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CELL CYCLE; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINODACTYLY; GROWTH RETARDATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; LETTER; MICROCEPHALY; NATURAL KILLER CELL; NIJMEGEN BREAKAGE SYNDROME; PIGMENT DISORDER; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN INDUCTION; SECKEL SYNDROME; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKAGE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; HUMANS; MICROCEPHALY; MUTATION; NUCLEAR PROTEINS; POLYDACTYLY; SEQUENCE DELETION; SYNDROME; TRANSLOCATION, GENETIC;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0035109016     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (19)

1. The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
2. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
3. Positional cloning of the gene for Nijmegen breakage syndrome
4. Nijmegen breakage syndrome
5. Calicheamicin: An antitumor antibiotic that cleaves double-stranded DNA site specifically
6. Nijmegen breakage syndrome
7. A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity
8. A new chromosomal instability disorder: The Nijmegen breakage syndrome
9. A chromosomal breakage syndrome with profound immunodeficiency
10. Whole chromosome painting detects an increased frequency of non specific translocations in homozygotes and heterozygotes of the human radiosensitivity syndromes ataxia telangiectasia and Nijmegen breakage syndrome
11. An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability
12. Chromosomal radiosensitivity to clastogenic agents and cell cycle perturbations in Nijmegen breakage syndrome lymphoblastoid cell lines
13. G2-phase checkpoint in Nijmegen breakage syndrome cells
14. The hMMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
15. The mammalian Mre-Rad50-Nbs1 protein complex: Integration of functions in the cellular DNA-damage response
16. Ataxia telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart
17. Characterization of cell cycle checkpoint response after ionizing radiation in Nijmegen breakage syndrome cells
18. Radiation induction of p53 in cells from Nijmegen breakage syndrome is defective but not similar to ataxia-telangiecrasia
19. Impaired p53 mediated DNA damage response, cell cycle disturbances and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines