Consulta: creatorFacets:"Cavalli,I.J."
Registros recuperados: 3
Data/hora: 02/06/2024 02:48:51

Microsatellite instability and cytogenetic survey in myeloid leukemias
Provedor de dados: 56
Autores: Ribeiro,E.M.S.F.; Rodriguez,J.M.; Cóser,V.M.; Sotero,M.G.; Fonseca Neto,J.M.; Pasquini,R.; Cavalli,I.J.
Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genomic instability; Mismatch repair errors; Cytogenetics; Leukemogenesis.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200003

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

CYP1A1 and GSTP1 polymorphisms in an oral cancer case-control study
Provedor de dados: 56
Autores: Leichsenring,A.; Losi-Guembarovski,R.; Maciel,M.E.; Losi-Guembarovski,A.; Oliveira,B.W.; Ramos,G.; Cavalcanti,T.C.S.; Bicalho,M.G.; Cavalli,I.J.; Cólus,I.M.S.; Ribeiro,E.M.S.F.
CYP1A1 and GSTP1 polymorphisms have been associated with a higher risk to develop several cancers, including oral squamous cell carcinoma (OSCC), which is closely related to tobacco and alcohol consumption. Both genes code for enzymes that have an important role in activating or detoxifying carcinogenic elements found in tobacco and other compounds, and polymorphic variants of these genes may result in alterations of the enzymatic activity. The CYP1A1 gene codes for the enzyme aryl hydrocarbon hydroxylase, which is responsible for the metabolism of polycyclic aromatic hydrocarbons. The investigated polymorphism, Ile/Val, seems to increase the activity of the enzyme in homozygous individuals, leading to an accumulation of carcinogens. The Ile/Val...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Oral carcinoma; Biometabolism genes; CYP1A1; GSTP1; Gene polymorphism.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200007