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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Brusius-Facchin,Ana Carolina (1) Coelho,J.C. (1) Giugliani,R. (1) Giugliani,Roberto (1) Matte,Ursula (1) Málaga,Diana Rojas (1) Pasqualim,Gabriela (1) Saraiva-Pereira,Maria Luiza (1) Scalco,F.B. (1) Schwartz,Ida V.D. (1) Siebert,Marina (1) Souza,Carolina F.M de (1) Tobo,P. (1) Mais... Palavra-chave Lysosomal storage disorders (2) Cholesterol metabolism (1) Ion Torrent (1) Molecular diagnostics (1) Next-generation sequencing (1) Niemann-Pick disease (1) Sphingomyelinase (1) Validation (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2019 (1) 1999 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts BJMBR Scalco,F.B.; Giugliani,R.; Tobo,P.; Coelho,J.C.. Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount of intracellular cholesterol was measured in 8 cultures of normal fibroblasts and in 7 fibroblast cultures from NPC patients. DMSO was added to the fibroblast cultures at three different concentrations (1, 2 and 4%, v/v) and the cultures were incubated for 24 h. Sphingomyelinase activity was significantly increased in both groups of cells only when incubated with 2% DMSO (59.4 ± 9.1 and 77.0 ± 9.1 nmol h-1 mg protein-1, controls without and with 2% DMSO, respectively; 47.7 ± 5.2 and 55.8 ± 4.1 nmol h-1 mg protein-1, NPC without and with... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cholesterol metabolism; Sphingomyelinase; Niemann-Pick disease; Lysosomal storage disorders. Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000100003 Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders Genet. Mol. Biol. Málaga,Diana Rojas; Brusius-Facchin,Ana Carolina; Siebert,Marina; Pasqualim,Gabriela; Saraiva-Pereira,Maria Luiza; Souza,Carolina F.M de; Schwartz,Ida V.D.; Matte,Ursula; Giugliani,Roberto. Abstract Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a high allelic heterogeneity. A powerful tool for the diagnosis of the disease could reduce the “diagnostic odyssey” for affected families, leading to an appropriate genetic counseling and a better outcome for current therapies, since enzyme replacement therapies have been approved in Brazil for Gaucher, Fabry, and Pompe diseases, and are under development for Niemann-Pick Type B. However, application of next-generation sequencing (NGS) technology in the clinical diagnostic setting requires a previous validation phase. Here, we... Tipo: Info:eu-repo/semantics/article Palavras-chave: Ion Torrent; Molecular diagnostics; Next-generation sequencing; Lysosomal storage disorders; Validation. Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200197 Registros recuperados: 2 Primeira ... 1 ... Última

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