Consulta: creatorFacets:"Pilonetto,D.V."
Registros recuperados: 2
Data/hora: 10/06/2024 19:00:09

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

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