[From gene to disease; ataxia telangiectasia]

Autor:	Broeks, A., Veer, L.J. van 't, Ottenheim, C., Hiel, J.A.P., Kleijer, W.J., Weemaes, C.M.R.
Rok vydání:	2003
Předmět:	congenital hereditary and neonatal diseases and abnormalities Immunotherapy gene therapy and transplantation [UMCN 1.4] Microbial pathogenesis and host defense [UMCN 4.1]
Zdroj:	Nederlands Tijdschrift voor Geneeskunde, 147, 386-9 Nederlands Tijdschrift voor Geneeskunde, 147, 9, pp. 386-9
ISSN:	0028-2162
Popis:	Item does not contain fulltext Ataxia telangiectasia (AT) is an autosomal recessive disorder characterised by cerebellar ataxia, telangiectasia, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to cell kill by ionising radiation and abnormally resistant to inhibition of DNA synthesis by ionising radiation. The responsible gene, 'ataxia telangiectasia mutated' (ATM) plays a crucial role in a signal transduction pathway, regulating the cell cycle, and in preventing damaged DNA from being reproduced. This rare genetic disorder manifests itself during childhood. The illness is progressive and most individuals die in their second or third decade of life due to infections or cancer. AT is difficult to diagnose due to its rarity and clinical heterogeneity. Both a physical examination and several laboratory tests are necessary for establishing its proper diagnosis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::456ee9c268655c213ad3e46feb7cd431 http://hdl.handle.net/2066/144268 Zobrazit plný text záznamu