Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Molecular biology's contribution to the understanding and treatment of Fanconi anemia
Autore:
Mondovits, B; Vermylen, C; Brichard, B; Cornu, G;
Indirizzi:
Clin Univ St Luc, Serv Hematol Pediat, B-1200 Brussels, Belgium Clin Univ St Luc Brussels Belgium B-1200 ediat, B-1200 Brussels, Belgium
Titolo Testata:
ARCHIVES DE PEDIATRIE
fascicolo: 8, volume: 8, anno: 2001,
pagine: 853 - 860
SICI:
0929-693X(200108)8:8<853:MBCTTU>2.0.ZU;2-M
Fonte:
ISI
Lingua:
FRE
Soggetto:
COLONY-STIMULATING FACTOR; HEMATOPOIETIC-CELLS; NUCLEAR-COMPLEX; GROUP-C; COMPLEMENTATION GROUPS; UNRELATED DONORS; PROTEINS FANCA; GENE FACC; DIAGNOSIS; REGISTRY;
Keywords:
Fanconi's anemia; genetics; genetic heterogeneity; molecular biology; bone marrow transplantation;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
60
Recensione:
Indirizzi per estratti:
Indirizzo: Vermylen, C Clin Univ St Luc, Serv Hematol Pediat, Ave Hippocrate 10, B-1200 Brussels,Belgium Clin Univ St Luc Ave Hippocrate 10 Brussels Belgium B-1200 um
Citazione:
B. Mondovits et al., "Molecular biology's contribution to the understanding and treatment of Fanconi anemia", ARCH PED, 8(8), 2001, pp. 853-860

Abstract

Fanconi's anemia is a rare autosomal recessive disease characterized by congenital abnormalities, a progressive pancytopenia and a predisposition to cancer. The diagnosis is based on an abnormal increase of spontaneous chromosome breakage, more specifically on a clear-cut increase of chromosome breakage in the presence of bifunctional alkylating agents. Eight complementation groups (A to H) have been defined, and the genes corresponding to four of these groups have been cloned (FANCA, FANCC, FANCF and FANCG). The function of the proteins encoded by the genes of Fanconi's anemia remains unknown. Numerous studies indicate that different cellular processes are probablyinvolved, including DNA repair pathways, apoptosis, cell cycle regulation and oxygen metabolism. Nevertheless, the exact cellular and molecular mechanisms implicated in Fanconi's anemia remain a challenge for fundamental research. The treatment of Fanconi's anemia is also the subject of intense research, bearing principally upon bone marrow transplantation, which is successful in the case of HLA-Identical sibling donors, and gene therapy, which is still at a preliminary stage on the clinical level. (C) 2001 Editions scientifiques et medicales Elsevier SAS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 02:12:08