Consulta: subjectFacets:"Fanconi anemia"
Registros recuperados: 4
Data/hora: 10/06/2024 05:38:04

A never-ending story: the steadily growing family of the FA and FA-like genes
Provedor de dados: 74
Autores: Gueiderikh,Anna; Rosselli,Filippo; Neto,Januario B.C.
Abstract Among the chromosome fragility-associated human syndromes that present cancer predisposition, Fanconi anemia (FA) is unique due to its large genetic heterogeneity. To date, mutations in 21 genes have been associated with an FA or an FA-like clinical and cellular phenotype, whose hallmarks are bone marrow failure, predisposition to acute myeloid leukemia and a cellular and chromosomal hypersensitivity to DNA crosslinking agents exposure. The goal of this review is to trace the history of the identification of FA genes, a history that started in the eighties and is not yet over, as indicated by the cloning of a twenty-first FA gene in 2016.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: DNA repair; Leukemia; Fanconi anemia; Chromosomal abnormalities.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300398

Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation
Provedor de dados: 56
Autores: Magdalena,N.; Pilonetto,D.V.; Bitencourt,M.A.; Pereira,N.F.; Ribeiro,R.C.; Jeng,M.; Pasquini,R.
Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anemia; FANCA; 3788-3790del mutation; Genetic screening.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000500003

Allogeneic hematopoietic stem cell transplantation from an alternative stem cell source in Fanconi anemia patients: analysis of 47 patients from a single institution
Provedor de dados: 56
Autores: Medeiros,C.R. de; Bitencourt,M.A.; Zanis-Neto,J.; Maluf,E.C.P.; Carvalho,D.S.; Bonfim,C.S.; Funke,V.M.; Setubal,D.C.; Farah,N.; Pasquini,R.
We transplanted 47 patients with Fanconi anemia using an alternative source of hematopoietic cells. The patients were assigned to the following groups: group 1, unrelated bone marrow (N = 15); group 2, unrelated cord blood (N = 17), and group 3, related non-sibling bone marrow (N = 15). Twenty-four patients (51%) had complete engraftment, which was not influenced by gender (P = 0.87), age (P = 0.45), dose of cyclophosphamide (P = 0.80), nucleated cell dose infused (P = 0.60), or use of anti-T serotherapy (P = 0.20). Favorable factors for superior engraftment were full HLA compatibility (independent of the source of cells; P = 0.007) and use of a fludarabine-based conditioning regimen (P = 0.046). Unfavorable factors were  &gt; or = 25 transfusions...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anemia; Transplant in Fanconi anemia; Alternative donors; Allogeneic hematopoietic stem cell transplantation in Fanconi anemia; Alternative stem cell source.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000005

FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia
Provedor de dados: 56
Autores: Pilonetto,D.V.; Pereira,N.F.; Bitencourt,M.A.; Magdalena,N.I.R.; Vieira,E.R.; Veiga,L.B.A.; Cavalli,I.J.; Ribeiro,R.C.; Pasquini,R.
Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fanconi anemia; FANCD2 Western blot; Diepoxybutane test; Monoubiquitination; Immunoblotting.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000300004