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Titolo:
Chromosome instability syndromes
Autore:
Taylor, AMR;
Indirizzi:
Univ Birmingham, CRC, Inst Canc Studies, Birmingham B15 2TT, W Midlands, England Univ Birmingham Birmingham W Midlands England B15 2TT W Midlands, England
Titolo Testata:
BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
fascicolo: 3, volume: 14, anno: 2001,
pagine: 631 - 644
SICI:
1521-6926(200109)14:3<631:CIS>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHRONIC LYMPHOCYTIC-LEUKEMIA; NIJMEGEN BREAKAGE SYNDROME; SYNDROME GENE-PRODUCT; BLOOM-SYNDROME CELLS; ATAXIA-TELANGIECTASIA GENE; ANEMIA PROTEINS FANCA; IONIZING-RADIATION; FANCONIS ANEMIA; DNA HELICASE; MARROW TRANSPLANTATION;
Keywords:
ataxia telangiectasia; ataxia telangiectasa-like disorder; Nijmegen breakage syndrome; Fanconi anaemia; Bloom syndrome; chromosome instability; cancer;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
97
Recensione:
Indirizzi per estratti:
Indirizzo: Taylor, AMR Univ Birmingham, CRC, Inst Canc Studies, Vincent Dr, Birmingham B15 2TT, WMidlands, England Univ Birmingham Vincent Dr Birmingham W Midlands England B15 2TT
Citazione:
A.M.R. Taylor, "Chromosome instability syndromes", BEST P R C, 14(3), 2001, pp. 631-644

Abstract

The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconianaemia (FA) and Bloom syndrome (BS) have been known for many years. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like disorder (ATLD) have been identified. A-T, ATLD and NBS form a group of disorders all of which show very similar cellular features that result from the consequences of increased sensitivity to ionizing radiation (IR). They alsoshare some clinical features, particularly A-T and ATLD, and all show an immunodeficiency. A-T and NBS both show a predisposition to lymphoid tumours. Fanconi anaemia can be caused by mutations in eight different genes, although the majority of mutations are accounted for by FANCA and FANCC. The very rare Bloom syndrome is caused by mutation in a single gene, BLM. An important feature which all of these disorders have in common is that the genesidentified are involved in aspects of recombination repair of DNA damage.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 09:14:31