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Registros recuperados: 103
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Cytochrome P450c17alpha (CYP17) gene polymorphism is not associated with leiomyoma susceptibility Genet. Mol. Biol.
Yao-Yuan,Hsieh; Fuu-Jen,Tsai; Chi-Chen,Chang; Chang-Hai,Tsai; Cheng-Chieh,Lin; Lian-Shun,Yeh.
Estrogen plays a role in the pathogenesis of leiomyoma. The CYP17 gene codes for the cytochrome P450c17alpha enzyme, which is involved in the biosynthesis of estrogen. Our aim was to investigate if CYP17 polymorphism could be a useful marker to predict the susceptibility to leiomyoma. Our sample of female subjects was divided into two groups: (1) with leiomyoma (n = 159); (2) without leiomyoma (n = 128). A 169-bp fragment encompassing the A1/A2 polymorphic site of the CYP17 gene was amplified by polymerase chain reaction (PCR), restricted by enzyme MspA1I and electrophored on agarose gel. Genotypes and allelic frequencies for this polymorphism in both groups were compared. There was no significant difference between the two groups regarding the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cytochrome P450c17; CYP17; Leiomyoma; Single nucleotide polymorphism.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400002
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Urokinase gene 3'-UTR T/C polymorphism is not associated with bladder cancer Genet. Mol. Biol.
Hsi-Chin,Wu; Chao-Hsiang,Chang; Wen-Chi,Chen; Huey-Yi,Chen; Fuu-Jen,Tsai.
Urokinase degrades basement proteins and is hypothesized to play a role in cancer progression. We investigated the hypothesis of C/T polymorphism in the 3'-untranslated region (3'-UTR) of the urokinase gene being associated with the development of bladder cancer. Such an association seems unlikely, since the genotype distributions in 114 bladder cancer patients did not differ from those of 105 controls.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Urokinase; Bladder cancer; Single nucleotide polymorphism.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000100003
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High baseline serum total and LDL cholesterol levels are associated with MDR1 haplotypes in Brazilian hypercholesterolemic individuals of European descent BJMBR
Rodrigues,A.C.; Rebecchi,I.M.M.; Bertolami,M.C.; Faludi,A.A.; Hirata,M.H.; Hirata,R.D.C..
The MDR1 gene encodes the P-glycoprotein, an efflux transporter with broad substrate specificity. P-glycoprotein has raised great interest in pharmacogenetics because it transports a variety of structurally divergent drugs, including lipid-lowering drugs. The synonymous single-nucleotide polymorphism C3435T and the nonsynonymous single-nucleotide polymorphism G2677T/A in MDR1 have been indicated as potential determinants of variability in drug disposition and efficacy. In order to evaluate the effect of G2677T/A and C3435T MDR1 polymorphisms on serum levels of lipids before and after atorvastatin administration, 69 unrelated hypercholesterolemic individuals from São Paulo city, Brazil, were selected and treated with 10 mg atorvastatin orally once daily for...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MDR1 gene; Hypercholesterolemia; Statins; Single nucleotide polymorphism; Pharmacogenetics.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900014
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Lipoprotein lipase PvuII polymorphism is associated with variations in serum lipid levels in non-diabetic pregnant women BJMBR
Sepetiba,R.J.C.; Andrade,J.; Hirata,R.D.C.; Hirata,M.H.; Sepetiba,C.R.G.; Nakamura,Y.; Matsumoto,L.O.; Cavalli,S.A.; Bertolami,M.C..
The aim of the present study was to determine if there is an association between the single nucleotide polymorphisms (SNPs) of the lipoprotein lipase (LPL) and apolipoprotein E (apo E) genes and the serum lipid profile in pregnancy and puerperium. Non-diabetic women of European descent in the third semester of pregnancy (N = 120) were selected. Those with diseases or other condition that could modify their lipid profile were excluded from the study (N = 32). Serum lipids were measured by routine laboratory procedures and genomic DNA was extracted by a salting out method. LPL (PvuII and HindIII) and apo E (HhaI) SNPs were detected by the polymerase chain reaction and restriction fragment length polymorphism. Categorical and continuous variables were...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Lipoprotein lipase; LPL PvuII polymorphism; Apolipoprotein E; Single nucleotide polymorphism; Serum lipids; Non-diabetic pregnancy.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000700005
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Development and use of single nucleotide polymorphism markers for candidate resistance gene in wild peanuts (Arachis spp). Repositório Alice
ALVES, D. M. T.; PEREIRA, R. W.; LEAL BERTIOLI, S. C. M.; MORETZSOHN, M. C.; GUIMARÃES, P. M.; BERTIOLI, D. J..
bitstream/item/177853/1/SP-19619-ID-30905.pdf
Tipo: Artigo em periódico indexado (ALICE) Palavras-chave: Molecular markers; Arabidopsis disease resistance genes; Arroz; Single nucleotide polymorphism.
Ano: 2008 URL: http://www.alice.cnptia.embrapa.br/alice/handle/doc/190636
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Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR BJMBR
Moysés,C.B.; Moreira,E.S.; Asprino,P.F.; Guimarães,G.S.; Alberto,F.L..
Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Hemochromatosis; Single nucleotide polymorphism; Quenched-FRET; Real-time PCR.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000001
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Population Genetics of the Eastern Oyster Crassostrea virginica (Gmelin, 1791) in the Gulf of Mexico ArchiMer
Varney, Robin L.; Galindo, Clara; Cruz, Pedro; Gaffney, Patrick M..
Genetic variation in eastern oysters (Crassostrea virginica) collected from 13 sites in the Gulf of Mexico was examined using a combination of mitochondrial DNA (mtDNA) sequencing, mtDNA restriction fragment length polymorphism analysis, and nuclear single nucleotide polymorphism analysis. Both mitochondrial and nuclear markers showed significant differentiation among samples. Combined with previous allozyme and microsatellite data, these results indicate considerable population subdivision throughout the Gulf of Mexico, despite the potentially homogenizing effect of larval dispersal.
Tipo: Text Palavras-chave: Gulf of Mexico; Mitochondrial DNA; Single nucleotide polymorphism; Genetics; Oyster; Crassostrea virginica.
Ano: 2009 URL: http://archimer.ifremer.fr/doc/2009/publication-7397.pdf
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Genetics of homocysteine metabolism and associated disorders BJMBR
Brustolin,S.; Giugliani,R.; Félix,T.M..
Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Homocysteine; Hyperhomocysteinemia; Folate metabolism; Single nucleotide polymorphism; Susceptibility genes.
Ano: 2010 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100001
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Bovine μ-calpain (CAPN1) gene polymorphisms in Brangus and Brahman bulls JBAG
Soria,LA; Corva,PM; Huguet,MJ; Miño,S; Miquel,MC.
The bovine CAPN1 gene encodes the large subunit of μ-calpain, which is thought to be one of the most important enzymes involved in postmortem beef tenderization. Three SNPs in CAPN1 (SNP 316, SNP 530 and SNP 4751) have been associated with beef tenderness in different beef cattle breeds. The objective of this work was to implement genotyping strategies for CAPN1 markers as part of a project pursuing the identifi cation and validation of molecular markers associated with bovine meat quality and composition. Three PCR-RFLP methods were designed to determine genotypes of 64 bulls (11 Angus, 43 Brangus and 10 Brahman). Unexpected patterns resulting from the PCR-RFLP analysis at SNP 316 and SNP 530 were resolved by cloning and sequencing and lead to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Beef cattle; Meat tenderness; U-calpain; Molecular markers; Single nucleotide polymorphism.
Ano: 2010 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332010000100007
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An R script for quality control in genome-wide association studies. Repositório Alice
HIGA, R.; BARRICHELLO, F.; NICIURA, S.; MEIRELLES, S.; REGITANO, L..
Recent advances in massive genotyping technology based on SNP (Single Nucleotide Polymorphisms) markers are pushing animal breeding research into a new era where the entire genome is screened in the search for genes which affect traits of economic interest, called genome wide association studies (GWAS). The first step in setting up a GWAS is to perform a quality control analysis (QC) on the genotyped data in order to filter out samples and SNPs not satisfying a previously defined set of criteria [1]. The most common criteria include sample and SNP call rate, minor allele frequency (MAF) and Hardy-Weinberg equilibrium (HWE). It is also recommended to analyze the heterozygosity and the presence of population structure and outlier samples. However, a...
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Genoma; Marcadores SNP; Polimorfismo de nucleotídeo único; Gado de corte; Genome; Single nucleotide polymorphism; Cattle.
Ano: 2011 URL: http://www.alice.cnptia.embrapa.br/handle/doc/908682
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A fast algorithm to "de novo" genome wide tandem repeats discovery. Repositório Alice
NARCISO, M.; YAMAGISHI, M..
Tandem Repeats (TR) are sequences where the same pattern repeats consecutively. They have been used as genomic markers (microsatellite and minisatéllite) since the begining of the genomic era. Recently, new studies have associated TR to important regulatory processes which substantialy increased the interest in TR. The exponential reduction cost of sequencing caused by the new technologies, resulted in the proliferation of genome projects, and particularly of novel model organisms. Very often, the first sequence analysis is the identification of genetic markers such as SNPs and TRs. As the former is a by product of the assembly phase, the real chalenge resides in the latter since the TRs identification must be done de novo. This scenario requires a faster...
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Algoritmo; Marcadores genéticos; Polimorfismo de nucleotídeo único; Repetições em Tandem; Algorithms; Microsatellite repeats; Genetic markers; Tandem repeat sequences; Single nucleotide polymorphism.
Ano: 2011 URL: http://www.alice.cnptia.embrapa.br/handle/doc/909360
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Rice and bean SNP information system. Repositório Alice
NARCISO, M. G.; BORBA, T..
Single base polymorphisms or SNPs ("Single nucleotide polymorphisms") are the most common forms of genetic variation in eukaryotic genomes. Being stable and easily analyzed by automated methodologies, SNPs are rapidly replacing microsatellite markers or SSR ("Simple Sequence Repeats") as genetic markers. Among the tools used to identify these markers are re-sequencing and modern methods of bioinformatics. The provision and organization of a database of information derived from re-sequencing allows the exploration of these data in developing new markers (SNPs), which will serve as tools in exploring the diversity stored in germplasm banks, the mapping of QTLs in conducting association studies and, consequently, the discovery of new genes.
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Arroz; Oryza sativa; Feijão; Phaseolus vulgaris; Variação genética; Genetic variation; Single nucleotide polymorphism.
Ano: 2011 URL: http://www.alice.cnptia.embrapa.br/handle/doc/911215
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Finding a minimal set of SNPs for paternity identification in Nelore cattle. Repositório Alice
MUDADO, M. de A.; REGITANO, L. C. de A.; SIQUEIRA, F.; ROSA, A. do N.; HIGA, R.; TIZIOTO, P. C..
Cattle breeding programs often demand pedigree information to associate the herdability of genetic markers to animal performance, like milk and beef quality or disease predisposition. Paternity mistakes are a common problem in cattle herds and genetic markers have been used in parentage exclusion tests for resolving pedigree disagreements. The most common markers used in these tests are microsatellites and SNPs (Single Nucleotide Polymorphisms). SNPs have also been used in GWAS (Genome Wide Association Studies) based on the novel commercial high density bovine SNP chips. Such platforms possess around 770k SNPs which can be used also as a rich resource for paternity exclusion tests. However genotyping such a large amount of SNPs for individuals of a whole...
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Gado Nelore; Marcadores SNP; Estudos de genoma; Polimorfismo de nucleotídeo único; Cattle; Nellore; Single nucleotide polymorphism; Genome.
Ano: 2011 URL: http://www.alice.cnptia.embrapa.br/handle/doc/908694
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A fast algorithm to "de novo" genome wide tandem repeats discovery. Repositório Alice
NARCISO, M.; YAMAGISHI, M..
Tandem Repeats (TR) are sequences where the same pattern repeats consecutively. They have been used as genomic markers (microsatellite and minisatéllite) since the begining of the genomic era. Recently, new studies have associated TR to important regulatory processes which substantialy increased the interest in TR. The exponential reduction cost of sequencing caused by the new technologies, resulted in the proliferation of genome projects, and particularly of novel model organisms. Very often, the first sequence analysis is the identification of genetic markers such as SNPs and TRs. As the former is a by product of the assembly phase, the real chalenge resides in the latter since the TRs identification must be done de novo. This scenario requires a faster...
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Algoritmo; Marcadores genéticos; Polimorfismo de nucleotídeo único; Repetições em Tandem; Algorithms; Microsatellite repeats; Genetic markers; Tandem repeat sequences; Single nucleotide polymorphism.
Ano: 2011 URL: http://www.alice.cnptia.embrapa.br/handle/doc/908712
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Development of a pipeline for CNV detection and analysis using data from SNP arrays. Repositório Alice
PEREIRA, F. C. de P.; HERAI, R. H.; GONÇALVES, A. R.; REGITANO, L. C. de A.; GIACHETTO, P. F..
The objective of this study was to develop a bioinformatics pipeline for CNV identification and analysis from data generated by high density SNP chips genotyping from Illumina platform, which has been extensively used to genotyping cattle at Embrapa.
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Gado; Bioinformática; Single nucleotide polymorphism; Cattle; Bioinformatics.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/946496
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Descriptive analysis of haplotypes in a population of Canchim beef cattle. Repositório Alice
MOKRY, F. B.; LIMA, A. O.; MUDADU, M. A.; HIGA, R. H.; MEIRELLES, S. L. C.; SILVA, M. V. B.; CARDOSO, F. F.; NICIURA, S. C. M.; ALENCAR, M. M.; REGITANO, L. C. A..
The aim in this study was to descriptively analyze haplotypes from a Canchim beef cattle population.
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Desequilíbrio de ligação; Gado; Cattle; Linkage disequilibrium; Single nucleotide polymorphism.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/946423
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An efficient implementation of Relief-F algorithm for Genome-Wide Association Studies. Repositório Alice
SHIBATA, R.; HIGA, R..
Although Relief can be adapted for regression context, in this work we approach only for classification context.
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Genoma; Single nucleotide polymorphism; Genome.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/946448
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Descriptive analysis of haplotypes in a population of Canchim beef cattle. Repositório Alice
MOKRY, F. B.; LIMA, A. O.; MUDADU, M. A.; HIGA, R. H.; MEIRELLES, S. L. C.; SILVA, M. V. B.; CARDOSO, F. F.; NICIURA, S. C. M.; ALENCAR, M. M.; REGITANO, L. C. A..
The aim in this study was to descriptively analyze haplotypes from a Canchim beef cattle population.
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Desequilíbrio de ligação; Gado; Cattle; Linkage disequilibrium; Single nucleotide polymorphism.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/967077
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Associação de SNPs com características de carcaça em uma população da raça Canchim. Repositório Alice
MOKRY, F. B.; LIMA, A. O. de; URBINATI, I.; TORRES JUNIOR, R. A. de A.; HIGA, R. H.; REGITANO, L. C. de A..
Resumo: Foram genotipados 400 animais Canchim que apresentavam fenótipos para área de olho de lombo (AOL) e espessura de gordura subcutânea (EGS). Após o controle de qualidade, foi realizado análise de associação dos SNPs com AOL e EGS por meio da metodologia de RandomForest. Os 400 indivíduos foram também reamostrados 10 vezes formando grupos de 200 indivíduos mais representativos e menos aparentados. Foi criado um grupo de SNPs contendo apenas os SNPs que foram selecionados em todas as análises, considerados os SNPs mais robustos totalizando 197 SNPs para AOL e 162 SNPs para EGS. Após o ajuste de uma regressão selecionou-se um conjunto de 20 SNPs para AOL com R2=0,59 e um conjunto de 17 SNPs para EGS com R2=0,49. Esses SNPs ainda precisam ser validados...
Tipo: Artigo em anais de congresso (ALICE) Palavras-chave: Área de olho de lombo; Bovino de corte; Espessura de gordura subcutânea; Random forest; Ribeye area; Backfat; Single nucleotide polymorphism; Beef cattle.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/946729
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Identificação de CNVs em bovinos Canchim, a partir de dados de gentipagem de SNPs com chips de alta densidade. Repositório Alice
GONÇALVES, A. R.; GIACHETTO, P. F..
O objetivo desse estudo foi utilizar uma ferramenta open source, o CNstream (ALONSO et al., 2010), para a identificação de CNVs a partir de dados de genotipagem de bovinos por meio de chips de SNPs da plataforma Illumina. Foram utilizados dados de 400 animais (bovinos Canchim), participantes de um programa de melhoramento da Embrapa Pecuária Sudeste, genotipados com o BovineHD BeadChip (Illumina).
Tipo: Resumo em anais de congresso (ALICE) Palavras-chave: Genotipagem de bovinos; Polimorfismo de base única; Chips de SNP; Single nucleotide polymorphism.
Ano: 2012 URL: http://www.alice.cnptia.embrapa.br/handle/doc/954567
Registros recuperados: 103
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