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. 1978 May;53(5):386–390. doi: 10.1136/adc.53.5.386

Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test.

R Cox, G P Hosking, J Wilson
PMCID: PMC1544929  PMID: 666352

Abstract

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin fibroblasts is a valuable technique for confirming the diagnosis of the disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Albertini R. J., DeMars R. Somatic cell mutation. Detection and quantification of x-ray-induced mutation in cultured, diploid human fibroblasts. Mutat Res. 1973 May;18(2):199–224. doi: 10.1016/0027-5107(73)90037-7. [DOI] [PubMed] [Google Scholar]
  2. Boder E. Ataxia-telangiectasia: some historic, clinical and pathologic observations. Birth Defects Orig Artic Ser. 1975;11(1):255–270. [PubMed] [Google Scholar]
  3. Cleaver J. E. Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light. J Invest Dermatol. 1972 Mar;58(3):124–128. doi: 10.1111/1523-1747.ep12538913. [DOI] [PubMed] [Google Scholar]
  4. Cox R., Masson W. K. Letter: Changes in radiosensitivity during the in vitro growth of diploid human fibroblasts. Int J Radiat Biol Relat Stud Phys Chem Med. 1974 Aug;26(2):193–196. doi: 10.1080/09553007414551141. [DOI] [PubMed] [Google Scholar]
  5. Cunlift P. N., Mann J. R., Cameron A. H., Roberts K. D., Ward H. N. Radiosensitivity in ataxia-telangiectasia. Br J Radiol. 1975 May;48(569):374–376. doi: 10.1259/0007-1285-48-569-374. [DOI] [PubMed] [Google Scholar]
  6. Elmore E., Swift M. Growth of cultured cells from patients with ataxia-telangiectasia. J Cell Physiol. 1976 Nov;89(3):429–431. doi: 10.1002/jcp.1040890308. [DOI] [PubMed] [Google Scholar]
  7. Gotoff S. P., Amirmokri E., Liebner E. J. Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis. Am J Dis Child. 1967 Dec;114(6):617–625. doi: 10.1001/archpedi.1967.02090270073006. [DOI] [PubMed] [Google Scholar]
  8. Hoar D. I. Letter: Phenotypic manifestations of ataxia-telangiectasia. Lancet. 1975 Nov 22;2(7943):1048–1048. doi: 10.1016/s0140-6736(75)90347-5. [DOI] [PubMed] [Google Scholar]
  9. Morgan J. L., Holcomb T. M., Morrissey R. W. Radiation reaction in ataxia telangiectasia. Am J Dis Child. 1968 Nov;116(5):557–558. doi: 10.1001/archpedi.1968.02100020561022. [DOI] [PubMed] [Google Scholar]
  10. Paterson M. C., Smith B. P., Lohman P. H., Anderson A. K., Fishman L. Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts. Nature. 1976 Apr 1;260(5550):444–447. doi: 10.1038/260444a0. [DOI] [PubMed] [Google Scholar]
  11. Taylor A. M., Harnden D. G., Arlett C. F., Harcourt S. A., Lehmann A. R., Stevens S., Bridges B. A. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature. 1975 Dec 4;258(5534):427–429. doi: 10.1038/258427a0. [DOI] [PubMed] [Google Scholar]
  12. Taylor A. M., Metcalfe J. A., Oxford J. M., Harnden D. G. Is chromatid-type damage in ataxia telangiectasia after irradiation at G0 a consequence of defective repair? Nature. 1976 Apr 1;260(5550):441–443. doi: 10.1038/260441a0. [DOI] [PubMed] [Google Scholar]
  13. Waldmann T. A., McIntire K. R. Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet. 1972 Nov 25;2(7787):1112–1115. doi: 10.1016/s0140-6736(72)92717-1. [DOI] [PubMed] [Google Scholar]
  14. Weichselbaum R. R., Epstein J., Little J. B. In vitro radiosensitivity of human dipliod fibroblasts derived from patients with unusual clinical responses to radiation. Radiology. 1976 Nov;121(2):479–482. doi: 10.1148/121.2.479. [DOI] [PubMed] [Google Scholar]
  15. Weichselbaum R. R., Nove J., Little J. B. Skin fibroblasts from a D-deletion type retinoblastoma patient are abnormally X-ray sensitive. Nature. 1977 Apr 21;266(5604):726–727. doi: 10.1038/266726a0. [DOI] [PubMed] [Google Scholar]

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