Literature DB >> 2410349

Variant of ataxia-telangiectasia with low-level radiosensitivity.

M Fiorilli, A Antonelli, G Russo, M Crescenzi, M Carbonari, P Petrinelli.   

Abstract

In the present study we examined cells from several patients clinically diagnosed as having ataxia-telangiectasia (AT), for the capacity of their cells to inhibit DNA synthesis following exposure to gamma irradiation, and for the rate of spontaneous or bleomycin-induced chromosomal aberrations. Cells from two patients showed normal inhibition of DNA synthesis and levels of induced chromosomal aberrations intermediate between normal and AT cells. These two patients had only minimal immunologic impairment. These findings appear to define one distinct subset of AT.

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Year:  1985        PMID: 2410349     DOI: 10.1007/bf00273456

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  20 in total

1.  Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia.

Authors:  T A Waldmann; K R McIntire
Journal:  Lancet       Date:  1972-11-25       Impact factor: 79.321

2.  Bleomycin-resistant DNA synthesis in ataxia telangiectasia cells.

Authors:  P Cramer; R B Painter
Journal:  Nature       Date:  1981-06-25       Impact factor: 49.962

3.  Increased sensitivity to gamma irradiation of skin fibroblasts in Friedreich's ataxia.

Authors:  P D Lewis; J B Corr; C F Arlett; S A Harcourt
Journal:  Lancet       Date:  1979-09-01       Impact factor: 79.321

4.  Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion.

Authors:  N G Jaspers; D Bootsma
Journal:  Proc Natl Acad Sci U S A       Date:  1982-04       Impact factor: 11.205

5.  Diagnostic considerations in ataxia-telangiectasia.

Authors:  J M Jason; E W Gelfand
Journal:  Arch Dis Child       Date:  1979-09       Impact factor: 3.791

6.  Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines.

Authors:  M M Cohen; S J Simpson; L Pazos
Journal:  Cancer Res       Date:  1981-05       Impact factor: 12.701

7.  Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.

Authors:  M M Cohen; M Sagi; Z Ben-Zur; T Schaap; R Voss; G Kohn; H Ben-Bassat
Journal:  Cytogenet Cell Genet       Date:  1979

8.  Chromosomal abnormalities in ataxia-telangiectasia (Louis Bar's syndrome).

Authors:  R A Pfeiffer
Journal:  Humangenetik       Date:  1970

9.  Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia.

Authors:  A M Taylor; J M Oxford; J A Metcalfe
Journal:  Int J Cancer       Date:  1981-03-15       Impact factor: 7.396

10.  Transformation and repair replication in lymphocytes from ataxia telangiectasia.

Authors:  E E Henderson; M Basilio
Journal:  Proc Soc Exp Biol Med       Date:  1983-04
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  11 in total

1.  Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.

Authors:  Y Ziv; M Frydman; E Lange; N Zelnik; G Rotman; C Julier; N G Jaspers; Y Dagan; D Abeliovicz; H Dar; Z Borochowitz; M Lathrop; R A Gatti; Y Shiloh
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Louis-Bar syndrome: spontaneous and induced chromosomal aberrations in lymphocytes and micronuclei in lymphocytes, oral mucosa and hair root cells.

Authors:  R Tomanin; F Sarto; D Mazzotti; L Giacomelli; F Raimondi; C Trevisan
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

3.  Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Authors:  S Gilad; L Chessa; R Khosravi; P Russell; Y Galanty; M Piane; R A Gatti; T J Jorgensen; Y Shiloh; A Bar-Shira
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

Review 4.  Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity.

Authors:  Yuji Masuda; Kenji Kamiya
Journal:  Int J Hematol       Date:  2012-02-18       Impact factor: 2.490

5.  Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients.

Authors:  V Leuzzi; R Elli; A Antonelli; L Chessa; F Cardona; L Marcucci; P Petrinelli
Journal:  Eur J Pediatr       Date:  1993-07       Impact factor: 3.183

6.  Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families.

Authors:  M A Hannan; D Sigut; M Waghray; G G Gascon
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

Review 7.  Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect.

Authors:  P J McKinnon
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

8.  Radioresistant DNA synthesis and human genetic diseases.

Authors:  B R Young; R B Painter
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

9.  ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

Authors:  C J Curry; P O'Lague; J Tsai; H T Hutchison; N G Jaspers; D Wara; R A Gatti; H T Hutchinson
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

10.  Variant forms of ataxia telangiectasia.

Authors:  A M Taylor; E Flude; B Laher; M Stacey; E McKay; J Watt; S H Green; A E Harding
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

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