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	Provedor de dados BJMBR (2) Autor Boson,W.L.M. (1) Brasileiro-Filho,G. (1) De Marco,L.A. (1) Martini,S.V. (1) Morales,M.M. (1) Reis,F.J.C. (1) Rocco,P.R.M. (1) Vidigal,P.V.T. (1) Mais... Palavra-chave Cystic fibrosis (2) Cystic fibrosis transmembrane conductance regulator (2) Adeno-associated virus (1) Gene therapy (1) P.F508del (1) Vectors (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2011 (1) 2008 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Adeno-associated virus for cystic fibrosis gene therapy BJMBR Martini,S.V.; Rocco,P.R.M.; Morales,M.M.. Gene therapy is an alternative treatment for genetic lung disease, especially monogenic disorders such as cystic fibrosis. Cystic fibrosis is a severe autosomal recessive disease affecting one in 2500 live births in the white population, caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The disease is classically characterized by pancreatic enzyme insufficiency, an increased concentration of chloride in sweat, and varying severity of chronic obstructive lung disease. Currently, the greatest challenge for gene therapy is finding an ideal vector to deliver the transgene (CFTR) to the affected organ (lung). Adeno-associated virus is the most promising viral vector system for the treatment of respiratory disease because it... Tipo: Info:eu-repo/semantics/article Palavras-chave: Gene therapy; Adeno-associated virus; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Vectors. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011001100004 p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil BJMBR Vidigal,P.V.T.; Reis,F.J.C.; Boson,W.L.M.; De Marco,L.A.; Brasileiro-Filho,G.. Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Among the various CF mutations, p.F508del is the most frequent, accounting for two-thirds of the global CF chromosomes, although showing great variability among populations. We have studied 115 unrelated CF patients from a mixed population of Minas Gerais (Brazil). To evaluate part of the DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, blood DNA was obtained and PCR was performed using two pairs of primers that anneal to exons 10 and 24 of the CFTR gene. The PCR product was then submitted to automatic sequencing using the ABI PRISM 310 Genetic Analyzer. The p.F508del mutation was found in 50 (21.7%) of 230 unrelated CF... Tipo: Info:eu-repo/semantics/other Palavras-chave: Cystic fibrosis; P.F508del; Cystic fibrosis transmembrane conductance regulator. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800001 Registros recuperados: 2 Primeira ... 1 ... Última

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