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	Provedor de dados Genet. Mol. Biol. (2) Autor Tajara,Eloiza H. (2) Azevedo Jr.,Walter F. de (1) Bizari,Lucimari (1) Goloni-Bertollo,Eny M. (1) Mancini,Ulises M. (1) Rahal,Paula (1) Silva,Ana Elizabete (1) Trovó,Alessandra B. (1) Mais... Palavra-chave Carcinomas (1) Double minutes (1) GRD (1) Gene NF1 (1) Gene amplification (1) Gene expression (1) Mutations (1) Neurofibromatosis type 1 (1) Oncogenes (1) Polymorphisms (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2006 (1) 2004 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients Genet. Mol. Biol. Trovó,Alessandra B.; Goloni-Bertollo,Eny M.; Mancini,Ulises M.; Rahal,Paula; Azevedo Jr.,Walter F. de; Tajara,Eloiza H.. Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected. Tipo: Info:eu-repo/semantics/article Palavras-chave: Gene NF1; GRD; Neurofibromatosis type 1; Mutations; Polymorphisms. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 Gene amplification in carcinogenesis Genet. Mol. Biol. Bizari,Lucimari; Silva,Ana Elizabete; Tajara,Eloiza H.. Gene amplification increases the number of genes in a genome and can give rise to karyotype abnormalities called double minutes (DM) and homogeneously staining regions (HSR), both of which have been widely observed in human tumors but are also known to play a major role during embryonic development due to the fact that they are responsible for the programmed increase of gene expression. The etiology of gene amplification during carcinogenesis is not yet completely understood but can be considered a result of genetic instability. Gene amplification leads to an increase in protein expression and provides a selective advantage during cell growth. Oncogenes such as CCND1, c-MET, c-MYC, ERBB2, EGFR and MDM2 are amplified in human tumors and can be associated... Tipo: Info:eu-repo/semantics/article Palavras-chave: Gene amplification; Gene expression; Oncogenes; Carcinomas; Double minutes. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100001 Registros recuperados: 2 Primeira ... 1 ... Última

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