998 resultados para Somatic variations


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Caseins are the major milk proteins associated with lactation performance, milk composition and cheese yield efficiency, representing around 80% of the total amount of proteins found in milk. Among the caseins, kappa-casein is the protein that stabilizes micelle structure during milk coagulation process and being used during the cheese production. The kappa-casein gene (CSN3) has been previously mapped to buffalo chromosome 7 using a radiation hybrid panel and a comparative map was established using the sequence from bovine chromosome 6. The molecular structure of this gene has also been established in river buffalo, with a total length of 13,191 bp (GenBank: AM900443.1) and containing five exons. In this study we searched for single nucleotide variations in specific regions of the CSN3 gene in three animals representing the Murrah breed. Sequencing reactions were performed using ABI3730xl sequencer. The primer walking method was used to span the 5'-UTR and intron 2 regions of the gene, for which ten primer pairs were designed using Oligo 6 software. BLAST tool was used to verify the primers specificity. DNA sequences assemblies from all three animals were performed with Sequencher (R) software 4.1, while multiple alignments were performed using Clustal W software to identify single nucleotide variations. The sequencing revealed a total of 19 single nucleotide variations with 13 located in the upstream regulatory region of the gene (5'-UTR) and six on intron 2. These variations can be validated using commercial populations segregating specific economic traits.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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A polimicrogiria (PMG) é uma malformação do córtex cerebral causada por falhas no seu desenvolvimento, caracterizando-se por um número excessivo de pequenos giros e laminação anormal, dando à superfície cortical uma aparência irregular e grosseira. A gravidade de suas manifestações clínicas se relaciona diretamente com a extensão da malformação e das regiões cerebrais afetadas, sendo que a presença de lesões bilaterais ou unilaterais extensas indica um pior prognóstico. Uma das síndromes de polimicrogiria mais freqüentes e, conseqüentemente, mais bem descritas clinicamente, é a polimicrogiria perisylviana bilateral (PPB). Essa forma de PMG atinge a região que tange a fenda Sylviana, podendo apresentar-se tanto unilateralmente quanto em ambos os hemisférios. Vários genes têm sido relacionados a diferentes formas de polimicrogiria, são eles AFF2,TUBA1A, TUBB2B e TUBA8, SRPX2 e WDR62. Estes genes já foram estudados pelo nosso grupo de pesquisa em um grupo de pacientes compostos de casos familiares e esporádicos, acometidos em sua maioria pela forma perisylviana de PMG. Nenhuma variante deletéria foi identificada nestes genes. Recentemente um novo gene foi implicado na etiologia molecular das PMG, o TUBB3. O gene em questão pertence à mesma família de TUBA1A, TUBB2B e TUBA8 e codifica uma proteína de ligação aos microtúbulos, tendo importante papel na formação do fuso. Além deste gene, também tem sido descritas alterações genômicas, denominadas de Copy Number Variations (CNV), estas variações estruturais tem sido associadas com diversos distúrbios neurológicos, que vão desde transtornos psiquiátricos até malformações do córtex cerebral como a PMG. Desta forma, o objetivo deste trabalho foi analisar a existência de alterações de ponto deletérias no gene TUBB3 em pacientes com PMG e também, o envolvimento de CNVsna etiologia deste tipo de malformação ...

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This study evaluated the effect of environmental stimuli and selective pressures in different geographical areas along a latitudinal gradient, on the juvenile recruitment, population structure, and sex ratio of the speckled swimming crab Arenaeus cribrarius. Samples were collected monthly during 1 year in three locations along the Brazilian coast: Macaé, state of Rio de Janeiro (MAC, 22°47′ S, 41°45′ W); Ubatuba, São Paulo (UBA, 23°27′ S, 44°58′ W); and São Francisco do Sul, Santa Catarina (SFS, 26°08′ S, 48°34′ W). The specimens of A. cribrarius were identified, counted, sexed, and measured for maximum carapace width (CW). The largest juvenile found was in UBA (47.7 ± 1.36 mm); and the largest adult females and males in MAC (74.26 ± 0.93 and 77.04 ± 0.79 mm, respectively). Recruitment in MAC was continuous, whereas in UBA and SFS, recruitment showed seasonal characteristics. The sex ratio was skewed toward females only in UBA; in MAC and SFS, males and females were present in equal proportions. These results indicate that geographical variations can cause differences in the recruitment and population structure of A. cribrarius. These regional differences call attention to the necessity for improved management plans and control of shrimp fishing, which can affect population patterns such as juvenile recruitment, population structure and life history of the target species and species that are caught in bycatch from shrimping, such as the swimming crab A. cribrarius.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Three Paracoccidioides brasiliensis antigens, namely a culture filtrate preparation, a somatic antigen and a mixture of equal parts of the two, were tested by two serological techniques against sera from patients with paracoccidioidomycosis, and in an in vivo delayed hypersensitivity model in mice. The antigen mixture was more sensitive than the two individual antigens for the evaluation of humoral and cellular immune response to P. brasiliensis, both in man and in experimental animals.

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Nasal hygiene with saline solutions has been shown to relieve congestion, reduce the thickening of the mucus and keep nasal cavity clean and moist. Evaluating whether saline solutions improve nasal inspiratory flow among healthy children. Students between 8 and 11 years of age underwent 6 procedures with saline solutions at different concentrations. The peak nasal inspiratory flow was measured before and 30min after each procedure. Statistical analysis was performed by means of t test, analysis of variance, and Tukey's test, considering p<0.05. We evaluated 124 children at all stages. There were differences on the way a same concentration was used. There was no difference between 0.9% saline solution and 3% saline solution by using a syringe. The 3% saline solution had higher averages of peak nasal inspiratory flow, but it was not significantly higher than the 0.9% saline solution. It is important to offer various options to patients.

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In the instrumental records of daily precipitation, we often encounter one or more periods in which values below some threshold were not registered. Such periods, besides lacking small values, also have a large number of dry days. Their cumulative distribution function is shifted to the right in relation to that for other portions of the record having more reliable observations. Such problems are examined in this work, based mostly on the two-sample Kolmogorov–Smirnov (KS) test, where the portion of the series with more number of dry days is compared with the portion with less number of dry days. Another relatively common problem in daily rainfall data is the prevalence of integers either throughout the period of record or in some part of it, likely resulting from truncation during data compilation prior to archiving or by coarse rounding of daily readings by observers. This problem is identified by simple calculation of the proportion of integers in the series, taking the expected proportion as 10%. The above two procedures were applied to the daily rainfall data sets from the European Climate Assessment (ECA), Southeast Asian Climate Assessment (SACA), and Brazilian Water Resources Agency (BRA). Taking the statistic D of the KS test >0.15 and the corresponding p-value <0.001 as the condition to classify a given series as suspicious, the proportions of the ECA, SACA, and BRA series falling into this category are, respectively, 34.5%, 54.3%, and 62.5%. With relation to coarse rounding problem, the proportions of series exceeding twice the 10% reference level are 3%, 60%, and 43% for the ECA, SACA, and BRA data sets, respectively. A simple way to visualize the two problems addressed here is by plotting the time series of daily rainfall for a limited range, for instance, 0–10 mm day−1.