Genetic and biochemical studies with ataxia telangiectasia - A review

Human Genetics

Volumn 59, Issue 1, 1981, Pages 1-9

  Huang, P C ^a   Sheridan III, R B ^b  

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b St Mary's College of MD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; CENTRAL NERVOUS SYSTEM; CHROMOSOME ABERRATION; DNA REPAIR; ETIOLOGY; HEREDITY; HISTOLOGY; INHERITANCE; REVIEW;

ATAXIA TELANGIECTASIA; DNA; DNA DAMAGE; DNA REPAIR; HUMAN; MODELS, GENETIC; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0019851338     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00278846     Document Type: Review

References (72)

1. Normal activity of nucleoside phosphorylase, superoxide dismutase and catalase in skin fibroblasts cultured from ataxia telangiectasia patients
2. Excision repair in mammalian cells
3. Removal of acetylaminofluorene from the DNA of control and repair-deficient human fibroblasts
4. Human disorders showing increased sensitivity to the induction of genetic damage
5. DNA polymerases α, β, and γ in inherited diseases affecting DNA repair
6. A propos de deux observations du syndrome atazia-telangiectasia dans meme famille
7. Xeroderma pigmentosum: Biochemical and genetic characteristics
8. Ataxia telangiectasia: evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test
9. Radiosensitivity in ataxia telangiectasia
10. Chromosomal aberrations and mortality of X-irradiated mammalian-cells; emphasis on repair
11. An enzyme activity in normal and ataxia telangiectasia cell lines which is involved in the repair of γ irradiation-induced DNA damages
12. Autoimmunity in the relatives of patients with immunodeficiency diseases
13. Chromosome breakage and blastic transformation of lymphocytes in ataxia telangiectasia
14. Ataxia telangiectasia syndrome—cytogenetic and cancer aspects
15. Sister chromatid exchanges in ataxia telangiectasia
16. Chromosome instability syndromes
17. Ataxia telangiectasia clonal growth of translocation lymphocytes
18. In vitro radiosensitivity in “chromosomal breakage syndromes.”
19. Chemical mutagen hypersensitivity in ataxia telangiectasia
20. DNA repair enzymes in ataxia telangiectasia and Bloom's syndrome fibroblasts
21. Translocation 8: 14 in an ataxia telangiectasia-derived cell line
22. Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts
23. The production and repair of double strand breaks in cells from normal humans and from patients with ataxia telangiectasia
24. The response of ataxia telangiectasia cells to bleomycin
25. Repair of ultraviolet light damage in a variety of human fibroblast cell strains
26. Ataxia telangiectasia in Israel with observations on its relationship to malignant diseases
27. DNA N-glycosidases
28. Human endonuclease specific for apurinic/apyrimidinic sites in DNA
29. Somatic rearangement of chromosome 14 in human lymphocytes
30. An enzyme-based theory of obligate anaerobiosis: The physiological function of superoxide dismutase
31. Ataxia telangiectasia
32. Ataxia telangiectasia and swiss type agammaglobulinemia
33. Apurinic DNA endonuclease activities in repair-deficient human cell lines
34. Specific chromosome aberrations in ataxia telangiectasia
35. Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
36. Ataxia telangiectasia—An inherited human disorder involving hypersensitivity to ionizing radiation and related DNA-damaging chemicals
37. Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNA repair replication after hypoxic γ-irradiation
38. Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's Syndrome)
39. Role of the thymus in programming of neuroendocrine functions
40. Defective DNA repair in Fanconi's anemia
41. A 14/14 marker chromosome lymphocyte clone in AT
42. Cutaneous manifestations of ataxia telangiectasia
43. Deficiency of gamma-ray excision repair in skin fibroblasts from patients with Fanconi's anemia
44. Excision of α-ray induced thymine lesions by preparations from ataxia telangiectasia fibroblasts
45. Cytogenetic findings in two brothers with Ataxia telangiectasia (Louis Bar's Syndrome)
46. Decreased DNA repair synthesis and defective colony forming ability of ataxia telangiectasia fibroblast cell strains treated with N-methyl-N′-nitro-N-nitrosoguanidine
47. Repair-deficient human disorder and cancer
48. Effects of radiation on polynucleotides
49. Single strand breakage and repair in eukaryotic DNA as assayed by S1 nuclease
50. Apurinic and apyrimidinic endonuclease activities in ataxia telangiectasia
51. Superoxide dismutase and catalase activities in ataxia telangiectasia and normal fibroblast cell extracts
52. Ataxia telangiectasia: Further consideration of the evidence for single strand break repair
53. Endonucleolytic activity for gamma-irradiated DNA in normal and ataxia telangiectasia fibroblast cell extracts
54. Malignant neoplasms in the families of patients with ataxia telangiectasia
55. Unrepaired DNA strand breaks in irradiated ataxia telangiectasia lymphocytes suggested from cytogenetic observations
56. Ataxia telangiectasia: A human mutation with abnormal radiation sensitivity
57. Is chromatid-type damage in ataxia telangiectasia after irradiation at G0 a consequence of defective repair?
58. The proportion of cells labeled with tritiated thymidine as a function of population doubling level in cultures of fetal, adult, mutant, and tumor origin
59. DNA strand breakage repair in ataxia telangiectasia fibroblast-like cells
60. Unscheduled DNA synthesis in cultured ataxia telangiectasia fibroblast-like cells
61. The chromosome analysis and susceptibility to transformation by simian virus 40 of fibroblasts from ataxia telangiectasia
62. Mutations simultaneously affecting endonuclease II and exonuclease III in Escherichia coli
63. Unusual levels of (ADP-ribose)N and DNA synthesis in ataxia telangiectasia cells following gamma-ray irradiation
64. DNA repair in lymphoblastoid cell lines established from human genetic disorders
65. A rapid procedure for measurements of DNA repair in human fibroblasts and for complementation analysis of xeroderma pigmentosum cell
66. Radiosensitivity in ataxia telangiectasia = a new explanation
67. The rate of DNA synthesis in normal human and ataxia telangiectasia cells after exposure to X-irradiation