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	Provedor de dados Genet. Mol. Biol. (2) R. Bras. Zootec. (1) Autor Bernardes Júnior,Jurandir Joaquim (1) Bombardelli,Robie Allan (1) Carvalho,Marcos Oliveira de (1) Chibani,Jemni Ben (1) Denden,Sabri (1) Hayek,Donia (1) Khelil,Amel Haj (1) Knani,Jalel (1) Leban,Nadia (1) Loreto,Elgion L.S. (1) Neumann,Giovano (1) Piana,Pitágoras Augusto (1) Sanches,Paulo Vanderlei (1) Mais... Palavra-chave Computational analysis (3) Alpha1-antitrypsin (1) Damaging mutation (1) Evolution (1) Fish (1) Genome (1) Horizontal transfer (1) Motility (1) Scientometry (1) Spermatozoa (1) Transposable element (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2017 (1) 2012 (1) 2010 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última In silico analysis of alpha1-antitrypsin variants: the effects of a novel mutation Genet. Mol. Biol. Denden,Sabri; Leban,Nadia; Hayek,Donia; Knani,Jalel; Chibani,Jemni Ben; Khelil,Amel Haj. Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysema and, to a lesser extent, chronic liver disease and cirrhosis. In this report, we provide additional sequence data for alpha1-antitrypsin based on the characterization of a novel variant detected in a 53-year-old heterozygous patient with chronic obstructive pulmonary disease. The mutation occurred on a PI*M2 base allele and was characterized by a T → C transition at nt 97 in exon II that led to the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Alpha1-antitrypsin; Computational analysis; Damaging mutation. Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400006 Methods for detection of horizontal transfer of transposable elements in complete genomes Genet. Mol. Biol. Carvalho,Marcos Oliveira de; Loreto,Elgion L.S.. Recent advances in nucleic acid sequencing technology are creating a diverse landscape for the analysis of horizontal transfer in complete genomes. Previously limited to prokaryotes, the availability of complete genomes from close eukaryotic species presents an opportunity to validate hypotheses about the patterns of evolution and mechanisms that drive horizontal transfer. Many of those methods can be transported from methods previously used in prokaryotic genomes, as the assumptions for horizontal transfer can be interpreted as the same. Some methods, however, require a complete adaptation, while others need refinements in sensitivity and specificity to deal with the huge datasets generated from next-generation sequencing technologies. Here we list the... Tipo: Info:eu-repo/semantics/article Palavras-chave: Transposable element; Horizontal transfer; Genome; Computational analysis; Evolution. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000600024 Contribution of the CASA system, based on open source software, to the assessment of sperm characteristics: informetric and usage-based approaches R. Bras. Zootec. Neumann,Giovano; Bernardes Júnior,Jurandir Joaquim; Sanches,Paulo Vanderlei; Piana,Pitágoras Augusto; Bombardelli,Robie Allan. ABSTRACT By using informetric tools, we evaluated the contribution and impact of the open source computer-assisted sperm analysis (CASA) software on sperm studies, especially pertaining to fish. The article was cited 125 times between 2007 and 2014 in four publication types (articles, doctoral dissertations, master’s theses, and books). Among articles, the number of citations increased at rate of three citations per year and the calculated h-index was 17. Of the studies that cited Wilson-Leedy and Ingermann (2007), fish were the main group of organisms studied (61 articles); of these, 34 articles used the open source CASA, covering 23 marine or freshwater species. Studies conducted in 12 countries were published in 21 journals. Four ways of knowledge... Tipo: Info:eu-repo/semantics/article Palavras-chave: Computational analysis; Fish; Motility; Scientometry; Spermatozoa. Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982017000700560 Registros recuperados: 3 Primeira ... 1 ... Última

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