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Registros recuperados: 2.463 | |
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Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M.. |
Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant. |
Tipo: Info:eu-repo/semantics/article |
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Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002 |
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Menguer,Paloma Koprovski; Sperotto,Raul Antonio; Ricachenevsky,Felipe Klein. |
Abstract Oryza sativa, the common cultivated rice, is one of the most important crops for human consumption, but production is increasingly threatened by abiotic stresses. Although many efforts have resulted in breeding rice cultivars that are relatively tolerant to their local environments, climate changes and population increase are expected to soon call for new, fast generation of stress tolerant rice germplasm, and current within-species rice diversity might not be enough to overcome such needs. The Oryza genus contains other 23 wild species, with only Oryza glaberrima being also domesticated. Rice domestication was performed with a narrow genetic diversity, and the other Oryza species are a virtually untapped genetic resource for rice stress tolerance... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Oryza; Rice; Wild species; Abiotic stress; Domestication. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000200238 |
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Nascimento,Leandro Costa do; Costa,Gustavo Gilson Lacerda; Binneck,Eliseu; Pereira,Gonçalo Amarante Guimarães; Carazzolle,Marcelo Falsarella. |
The Genosoja consortium is an initiative to integrate different omics research approaches carried out in Brazil. Basically, the aim of the project is to improve the plant by identifying genes involved in responses against stresses that affect domestic production, like drought stress and Asian Rust fungal disease. To do so, the project generated several types of sequence data using different methodologies, most of them sequenced by next generation sequencers. The initial stage of the project is highly dependent on bioinformatics analysis, providing suitable tools and integrated databases. In this work, we describe the main features of the Genosoja web database, including the pipelines to analyze some kinds of data (ESTs, SuperSAGE, microRNAs, subtractive... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bioinformatics; Database; Gene expression; Soybean; Genosoja. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000200002 |
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Mendes-Bonato,Andréa Beatriz; Pagliarini,Maria Suely; Valle,Cacilda Borges do. |
This paper reports a case of abnormal spindle orientation during microsporogenesis in an interspecific hybrid of the tropical grass Brachiaria. In the affected plant, prophase I was normal. In metaphase I, bivalents were regularly co-oriented but distantly positioned and spread over the equatorial plate. In anaphase I, chromosomes failed to converge into focused poles due to parallel spindle fibers. As a consequence, in telophase I, an elongated nucleus or several micronuclei were observed in each pole. In the second division, the behavior was the same, leading to polyads with several micronuclei. A total of 40% of meiotic products were affected. The use of this hybrid in production systems needing good-quality seeds is discussed. |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Brachiaria; Interspecific hybrid; Meiosis; Spindle abnormality; Tropical grass. |
Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100023 |
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Santos,Fabio V.; Mesquita,Suzana F.P.; Faria,Maria José S.S.; Poersh,Aline; Maciel,Maria Aparecida M.; Pinto,Angelo C.; Morimoto,Helena K.; Cólus,Ilce Mara S.. |
The plant Croton cajucara Benth. (Euphorbiaceae) is a medicinal plant from the Brazilian Amazon where it is commonly known as sacaca. The principal compound isolated from C. cajucara stem-bark extracts is the clerodane-type diterpene trans-dehydrocrotonin (DCTN) which presents several biological activities, including antiulcerogenic, anti-inflammatory, hypoglycemic, antimutagenic and antitumoral activity. However, few studies have been carried out to evaluate the therapeutic potential of raw C. cajucara extracts. We studied mutagenicity and antimutagenicity effects of C. cajucara methanol extract using the micronucleus assay in bone marrow cells and the dominant lethal assay in mice submitted to subchronic treatments. The blood testosterone levels of the... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Antimutagenicity; Mutagenicity; Dominant lethal; Micronucleus; Croton cajucara; Medicinal plant. |
Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100029 |
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Cruvinel-Carloni,Adriana; Yamane,Letícia; Scapulatempo-Neto,Cristovam; Guimarães,Denise; Reis,Rui Manuel. |
Abstract Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Colorectal carcinoma; TERT promoter mutations; Precursor lesions. |
Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100082 |
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Diniz,Michely C.; Costa,Marcília P.; Pacheco,Ana C.L.; Kamimura,Michel T.; Silva,Samara C.; Carneiro,Laura D.G.; Sousa,Ana P.L.; Soares,Carlos E.A.; Souza,Celeste S.F.; Oliveira,Diana Magalhães de. |
Several motile processes are responsible for the movement of proteins into and within the flagellar membrane, but little is known about the process by which specific proteins (either actin-associated or not) are targeted to protozoan flagellar membranes. Actin is a major cytoskeleton protein, while polymerization and depolymerization of parasite actin and actin-interacting proteins (AIPs) during both processes of motility and host cell entry might be key events for successful infection. For a better understanding the eukaryotic flagellar dynamics, we have surveyed genomes, transcriptomes and proteomes of pathogenic Leishmania spp. to identify pertinent genes/proteins and to build in silico models to properly address their putative roles in trypanosomatid... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Actin-interacting proteins (AIPs); Flagellar proteins; Leishmania; Coronin and Arp2/3; Phagosome. |
Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300033 |
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Pereira,Andreia; Mendonca,Maria Isabel; Borges,Sofia; Sousa,Ana Célia; Freitas,Sónia; Henriques,Eva; Rodrigues,Mariana; Freitas,Ana Isabel; Guerra,Graça; Freitas,Carolina; Pereira,Décio; Brehm,António; Reis,Roberto Palma Dos. |
Abstract The utility of genetic risk scores (GRS) as independent risk predictors remains inconclusive. Here, we evaluate the additive value of a multi-locus GRS to the Framingham risk score (FRS) in coronary artery disease (CAD) risk prediction. A total of 2888 individuals (1566 coronary patients and 1322 controls) were divided into three subgroups according to FRS. Multiplicative GRS was determined for 32 genetic variants associated to CAD. Logistic Regression and Area Under the Curve (AUC) were determined first, using the TRF for each FRS subgroup, and secondly, adding GRS. Different models (TRF, TRF+GRS) were used to classify the subjects into risk categories for the FRS 10-year predicted risk. The improvement offered by GRS was expressed as Net... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Coronary artery disease; Genetic risk score; Framingham score; Risk prediction; Risk factors. |
Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500766 |
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Gasparotto,Aline Simas; Borges,Diego Olschowsky; Zandoná,Marília Remuzzi; Ramos,Mauricio Jacques; Meihnardt,Nelson Guardiola; Mattevi,Vanessa S.. |
Abstract Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adiponectin; Polymorphism; Obesity; Lipid profile; Bariatric surgery. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500736 |
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Wang,Dong-Wei; Liu,Min; Wang,Ping; Zhan,Xiang; Liu,Yu-Qing; Zhao,Luo-Sha. |
Abstract Recently, the rs1042713 G > A and rs1042714 C > G polymorphisms in the beta-2 adrenergic receptor (ADRB2) gene were shown to be related to atherosclerosis diseases. Therefore, we performed a systemic meta-analysis to determine whether the two functional polymorphisms are related to the risk of myocardial infarction (MI) and coronary artery disease (CAD). We identified published studies that are relevant to our topic of interest. Seven case-control studies, with a total of 6,843 subjects, were incorporated into the current meta-analysis. Our analysis showed a higher frequency of rs1042713 G > A variant in patients with MI or CAD compared to healthy controls. A similar result was also obtained with the rs1042714 C > G variant under both... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Beta-2 adrenergic receptor; Genetic polymorphism; Myocardial infarction; Coronary artery disease; Meta-analysis. |
Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400433 |
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Souza,Laís Bérgamo de; Ruas,Eduardo A.; Rodrigues,Luana A.; Ruas,Claudete F.; Ruas,Paulo M.. |
Parapiptadenia rigida is a tropical early secondary succession tree characteristic of the Tropical Atlantic Rainforest. This species is of great ecological importance in the recovery of degraded areas. In this study we investigated the variability and population genetic structure of eight populations of P. rigida. Five AFLP primer combinations were used in a sample of 159 individuals representing these eight populations, rendering a total of 126 polymorphic fragments. The averages of percentage of polymorphic loci, gene diversity, and Shannon index were 60.45%, 0.217, and 0.322, respectively. A significant correlation between the population genetic variability and the population sizes was observed. The genetic variability within populations (72.20%) was... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tropical tree; Genetic diversity; Population genetics; Conservation; AFLP. |
Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400012 |
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Registros recuperados: 2.463 | |
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