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| VELHO,RENATA V.; SPERB-LUDWIG,FERNANDA; SCHWARTZ,IDA V.D.. |
| With the advance and popularization of molecular techniques, the identification of genetic mutations that cause diseases has increased dramatically. Thus, the number of laboratories available to investigate a given disorder and the number of subsequent diagnosis have increased over time. Although it is necessary to identify mutations and provide diagnosis, it is also critical to develop specific therapeutic approaches based on this information. This review aims to highlight recent advances in mutation-targeted therapies with chemicals that mitigate mutational pathology at the molecular level, for disorders that, for the most part, have no effective treatment. Currently, there are several strategies being used to correct different types of mutations,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Antisense oligonucleotide-mediated splicing redirection mutations; Exon skipping; Mismatch repair; Mutation-targeted therapies; Translational readthrough. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000301375 |
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| Ayres,Flávio Monteiro; Momotuk,Euza Guimarães; Bastos,Celso da Cunha; Cruz,Aparecido Divino da. |
| The multisteps of tumorigenesis involve the classic chromosomal instability and the mutator phenotype pathways featured by a predisposition to acquire mutations in tumor suppressor genes and oncogenes. Expansion and contraction of microsatellite sequences due to a deficient mismatch repair system are a marker of the mutator phenotype. Controversial results regarding the extent of microsatellite instability (MSI) have been reported in the development and progression of myeloid malignancies. Here, we investigated MSI and loss of heterozygosity (LOH) frequencies at the microsatellite loci BAT-26, D7S486, D8S135, ANK1, IFNA, TP53 and bcr of 19 Brazilian patients with acute (AML) and chronic myeloid leukemia (CML). One AML patient and one CML patient were... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Loss of heterozygosity; Microsatellite instability; Mismatch repair; Mutator phenotype; Myeloid leukemia. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400003 |
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