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Genetic and cellular features of ataxia telangiectasia

Conference:

Abstract

Ataxia telangiectasia (AT) is a developmental disorder in which many organ systems are affected. The children are recognized by a progressive cerebellar deterioration. The gene for AT has now been localized to a region of chromosome 11q22-23 of no more than 3Mb in size and its product appears to be involved directly or indirectly in some form of DNA recombination. Patients and their cells are unusually sensitive to ionizing radiation and various radiometric drugs. Observations on the progressive nature of the disorder, with loss of selected cells or failure to develop normally, might be compatible with the pathological effect of an inability to correctly regulate apoptosis in some cell lineages. While this is an intriguing speculation, there is, at present, no evidence for such a defect in AT. (author).
Authors:
Taylor, A M.R.; Byrd, P J; McConville, C M; Thacker, S [1] 
  1. Birmingham Univ. (United Kingdom). CRC Dept. of Cancer Studies
Publication Date:
Jan 01, 1994
Product Type:
Conference
Report Number:
CONF-9307178-
Reference Number:
AIX-25-030895; EDB-94-071245
Resource Relation:
Journal Name: International Journal of Radiation Biology; (United Kingdom); Journal Volume: 65:1; Conference: Annual meeting of the Association for Radiation Research, Guildford (United Kingdom), 12-15 Jul 1993
Subject:
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.; CHILDREN; TELANGIECTASIS; RADIOSENSITIVITY; CEREBELLUM; GENETIC MAPPING; GROWTH; RADIOMIMETIC DRUGS; AGE GROUPS; BODY; BRAIN; CENTRAL NERVOUS SYSTEM; DISEASES; DRUGS; MAPPING; NERVOUS SYSTEM; ORGANS; SKIN DISEASES; VASCULAR DISEASES; 560120* - Radiation Effects on Biochemicals, Cells, & Tissue Culture
OSTI ID:
5025486
Country of Origin:
United Kingdom
Language:
English
Other Identifying Numbers:
Journal ID: ISSN 0955-3002; CODEN: IJRBE7
Submitting Site:
GBN
Size:
Pages: 65-70
Announcement Date:
May 13, 2001

Conference:

Citation Formats

Taylor, A M.R., Byrd, P J, McConville, C M, and Thacker, S. Genetic and cellular features of ataxia telangiectasia. United Kingdom: N. p., 1994. Web.
Taylor, A M.R., Byrd, P J, McConville, C M, & Thacker, S. Genetic and cellular features of ataxia telangiectasia. United Kingdom.
Taylor, A M.R., Byrd, P J, McConville, C M, and Thacker, S. 1994. "Genetic and cellular features of ataxia telangiectasia." United Kingdom.
@misc{etde_5025486,
title = {Genetic and cellular features of ataxia telangiectasia}
author = {Taylor, A M.R., Byrd, P J, McConville, C M, and Thacker, S}
abstractNote = {Ataxia telangiectasia (AT) is a developmental disorder in which many organ systems are affected. The children are recognized by a progressive cerebellar deterioration. The gene for AT has now been localized to a region of chromosome 11q22-23 of no more than 3Mb in size and its product appears to be involved directly or indirectly in some form of DNA recombination. Patients and their cells are unusually sensitive to ionizing radiation and various radiometric drugs. Observations on the progressive nature of the disorder, with loss of selected cells or failure to develop normally, might be compatible with the pathological effect of an inability to correctly regulate apoptosis in some cell lineages. While this is an intriguing speculation, there is, at present, no evidence for such a defect in AT. (author).}
journal = {International Journal of Radiation Biology; (United Kingdom)}
volume = {65:1}
place = {United Kingdom}
year = {1994}
month = {Jan}
}