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| Yunis,Luz Karime; Linares,Adriana; Cabrera,Edgar; Yunis,Juan J.. |
| Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemophilia A; Factor VIII; IS-PCR; HRM; Colombia. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500750 |
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| Blanco,Alicia Noemí; Peirano,Andrea; Silvia,Grosso; Lazzari,María Angela. |
| El objetivo del trabajo fue analizar el efecto de inmunoglobulinas (IgG) purificadas con actividad anti-factor VIII neutralizante o inhibidor lúpico, sobre el factor VIII medido por sustrato cromogénico (factor VIII SC), con el propósito de validar el método para detectar anti-factor VIII en presencia de inhibidor lúpico. Se aisló la fracción IgG (cromatografía de afinidad) a partir de plasmas normales (IgG-N), con anti-factor VIII (IgG-aFVIII) o con inhibidor lúpico (IgG-IL), preparándose un pool normal como aporte de factor VIII en los ensayos de inhibición. Se analizaron las mezclas del pool normal con IgG-N, IgG-aFVIII, IgG-IL o la combinación de IgG-aFVIII+IgG-IL, inmediatamente y luego de 2 h a 37 ºC, determinándose la actividad del factor VIII SC y... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Inhibidor anti-factor VIII; Inhibidor lúpico; Factor VIII. |
| Ano: 2007 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0325-29572007000300015 |
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| Caron,Angelo Luis; Picanço-Castro,Virgínia; Ansorge,Sven; Covas,Dimas Tadeu; Kamen,Amine; Swiech,Kamilla. |
| ABSTRACT Lentiviral vector-mediated gene transfer offers several advantages over other gene delivery vectors when considering gene and cell therapy applications. However, using these therapies in clinical applications involves large-scale vector production in an efficient and cost-effective manner. Here we describe a high yield production of a lentivirus encoding recombinant factor VIII in a scalable and GMP-compliant culture system, based on serum free suspension cultures and transient transfection with an inexpensive reagent, polyethylenimine (PEI), reaching a total viral yield of 2.48x108 particles. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Factor VIII; Hek293 cells; Lentiviral vectors; Polyethylenimine; Serum-free suspension culture; Transient transfection. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-89132015000600923 |
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