950 resultados para Copy number variations and polymorphisms


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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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The CaSnO3 perovskite is investigated under geochemical pressure, up to 25 GPa, by means of periodic ab initio calculations performed at B3LYP level with local Gaussian-type orbital basis sets. Structural, elastic, and spectroscopic (phonon wave-numbers, infrared and Raman intensities) properties are fully characterized and discussed. The evolution of the Raman spectrum of CaSnO3 under pressure is reported to remarkably agree with a recent experimental determination [J. Kung, Y. J. Lin, and C. M. Lin, J. Chem. Phys. 135, 224507 (2011)] as regards both wave-number shifts and intensity changes. All phonon modes are symmetry-labeled and bands assigned. The single-crystal total spectrum is symmetry-decomposed into the six directional spectra related to the components of the polarizability tensor. The infrared spectrum at increasing pressure is reported for the first time and its main features discussed. All calculations are performed using the CRYSTAL14 program, taking advantage of the new implementation of analytical infrared and Raman intensities for crystalline materials. (C) 2015 AIP Publishing LLC.

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Pós-graduação em Agronomia (Genética e Melhoramento de Plantas) - FCAV

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The carbohydrates translocation and consequently growth and production of fig tree (Ficuscarica L.) vary according to the different management on cultivation conditions. The aim of this study was to evaluate the changes in the levels and total carbohydrates accumulation together with growth and “Roxo de Valinhos” fig trees production onimplementation of orchards in initial phase, cultivated with and without irrigation. We adopted a factorial arrangement (2 x 7) with four repetitions distributed in installments (with and without irrigation) subdivided in time (collect time). Destructive analyzes were performed at 40, 80, 120, 160, 200, 240 and 280 days after pruning (DAP) and are measured: stem diameter and branch, stem length and branch, number of leaves, internodes and fruit. Subsequently, the plant parts were sectioned to obtain the leaf area, length and roots volume, fresh and dry matter weight. The number, weight and total productivity of fruits were evaluated. The media of all growth attributes and production characteristics were higher in treatments with water irrigation. The total carbohydrate content was higher at 120 and 160 DAP and the carbohydrates accumulation was increasing for most institutions over the plants development, except for the leaves that showed a decrease in the levels at 160 DAP. The fruits showed greater carbohydrates accumulation in relation to the other evaluated organs.

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The structures and association properties of thermosensitive block copolymers of poly(methoxyoligo( ethylene glycol) norbornenyl esters) in D2O were investigated by small angle neutron scattering (SANS). Each block is a comblike polymer with a polynorbornene (PNB) backbone and oligo ethylene glycol (OEG) side chains (one side chain per NB repeat unit). The chemical formula of the block copolymer is (OEG3NB) 79- (OEG6.6NB) 67, where subscripts represent the degree of polymerization (DP) of OEG and NB in each block. The polymer concentration was fixed at 2.0 wt % and the structural changes were investigated over a temperature range between 25 and 68°C. It was found that at room temperature polymers associate to form micelles with a spherical core formed by the block (OEG3NB) 79 and corona formed by the block (OEG6.6NB) 67 and that the shape of the polymer in the corona could be described by the form factor of rigid cylinders. At elevated temperatures, the aggregation number increased and the micelles became more compact. At temperatures around the cloud point temperature (CPT) T ) 60 °C a correlation peak started to appear and became pronounced at 68 °C due to the formation of a partially ordered structure with a correlation length ∼349 Å.

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Bovine viral diarrhea virus (BVDV) is a member of the genus Pestivirus, Family Flaviviridae. The virus can infect many species of animals of the order Artiodactyla. The BVDV genome encodes an auto protease, Npro, that degrades interferon regulatory factor-3 (IRF-3) reducing type I interferon (IFN-I) production from host cells. Bovine respiratory syncytial virus (BRSV) is a member of the genus Pneumovirus, Family Paramyxoviridae. Concurrent infection with BVDV and BRSV causes more severe respiratory and enteric disease than infection with either virus alone. Our hypothesis was that Npro modulates the innate immune responses to BVDV infection and enhances replication of BVDV or BRSV co-infection. The noncytopathic BVDV2 viruses NY93/c N- Npro 18 EGFP (a mutant with modified Npro fused with enhanced green fluorescent protein), NY93 infectious clone (NY93/c), wild-type NY93-BVDV2 (NY93-wt), and BRSV were evaluated in this study. The objectives of this study were: (1) to characterize the replication kinetics and IFN-I induction in Madin-Darby bovine kidney (MDBK) cells following infection with each of the BVDV isolates, and (2) to characterize the influence of BVDV-mediated IFN-I antagonism on enhancement of BRSV replication in bovine turbinate (BT) cells. NY93/c N- Npro 18 EGFP replicated 0.4 – 1.6 TCID50 logs lower than NY93-wt in MDBK cells. NY93/c N- Npro 18 EGFP-infected MDBK cells synthesized IFN-I significantly higher than NY93/c- and NY93-wt-infected MDBK cells. BT cells co-infected with NY93/c N- Npro 18 EGFP/BRSV or NY93-wt/BRSV were evaluated to determine the effects of co-infection on BRSV replication and IFN-I induction in BT cells. BRSV RNA levels in NY93-wt/BRSV co-infected BT cells were 2.49, 2.79, and 2.89 copy number logs significantly greater than in NY93/c N- Npro 18 EGFP/BRSV co-infected BT cells on days 5, 7, and 9 post-infection, respectively. BVDV RNA levels in NY93/c N- Npro 18 EGFP-infected BT cells were 1.64 – 4.38 copy number logs lower than in NY93-wt-infected BT cells. NY93/c N- Npro 18 EGFP single and co-infected BT cells synthesized IFN-I significantly higher than NY93-wt single and co-infected BT cells. In summary, these findings suggest: (1) NY93/c N- Npro 18 EGFP BVDV2 induced higher levels of IFN-I than BVDV2-wt and may be useful as a safer, replicating BVDV vaccine, and (2) Enhancement of BRSV infection by BVDV co-infection is mediated by antagonism of IFN-I.

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Temporal, spatial and diel variation in the distribution and abundance of organisms is an inherent property of ecological systems. The present study describes these variations and the composition of decapod larvae from the surface waters of St Paul`s Rocks. The expeditions to the archipelago were carried out in April, August and November 2003, March 2004 and May 2005. Surface plankton samples were collected during the morning and dusk periods, inside the inlet and in increasing distances around the archipelago (similar to 150, 700 and 1500 m). The identification resulted in 51 taxa. Seven species, six genera and larvae of the families Pandalidae and Portunidae were identified for the first time in the area. The mean larval density varied from zero to 150.2 +/- 69.6 individuals 100 m(-3) in the waters surrounding the archipelago and from 1.7 +/- 3.0 to 12,827 +/- 15,073 individuals 100 m(-3) inside the inlet. Significant differences on larval density were verified between months and period of the day, but not among the three sites around the archipelago. Cluster and non-metric multidimensional scaling analysis indicated that the decapod larvae community was divided into benthic and pelagic assemblages. Indicator species analysis (ISA) showed that six Brachyura taxa were good indicators for the inlet, while three sergestids were the main species from the waters around the archipelago. These results suggest that St Paul`s Rocks can be divided into two habitats, based on larval composition, density and diversity values: the inlet and the waters surrounding the archipelago.

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The Columbia Channel (CCS) system is a depositional system located in the South Brazilian Basin, south of the Vitoria-Trindade volcanic chain. It lies in a WNW-ESE direction on the continental rise and abyssal plain, at a depth of between 4200 and 5200 m. It is formed by two depocenters elongated respectively south and north of the channel that show different sediment patterns. The area is swept by a deep western boundary current formed by AABW. The system has been previously interpreted has a mixed turbidite-contourite system. More detailed study of seismic data permits a more precise definition of the modern channel morphology, the system stratigraphy as well as the sedimentary processes and control. The modern CCS presents active erosion and/or transport along the channel. The ancient Oligo-Neogene system overlies a ""upper Cretaceous-Paleogene"" sedimentary substratum (Unit U1) bounded at the top by a major erosive ""late Eocene-early Oligocene"" discordance (D2). This ancient system is subdivided into 2 seismic units (U2 and U3). The thick basal U2 unit constitutes the larger part of the system. It consists of three subunits bounded by unconformities: D3 (""Oligocene-Miocene boundary""), D4 (""late Miocene"") and D5 (""late Pliocene""). The subunits have a fairly tabular geometry in the shallow NW depocenter associated with predominant turbidite deposits. They present a mounded shape in the deep NE depocenter, and are interpreted as forming a contourite drift. South of the channel, the deposits are interpreted as a contourite sheet drift. The surficial U3 unit forms a thin carpet of deposits. The beginning of the channel occurs at the end of U1 and during the formation of D2. Its location seems to have been determined by active faults. The channel has been active throughout the late Oligocene and Neogene and its depth increased continuously as a consequence of erosion of the channel floor and deposit aggradation along its margins. Such a mixed turbidite-contourite system (or fan drift) is characterized by frequent, rapid lateral facies variations and by unconformities that cross the whole system and are associated with increased AABW circulation. (C) 2009 Elsevier B.V. All rights reserved.

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Two growth patterns are recognized in shallow-water ophiuroids: (I) slow growth and early reproductive maturity over a long life span and (2) rapid growth with a short life span. For species with the first pattern, both growth and recruitment would reflect a reproductive pattern with long periods of resting and spawning concentrated in certain months of the year. To evaluate this hypothesis, the recruitment, population dynamics, and growth of the intertidal brittle star Ophionereis reticulata were analyzed from January 2001 to December 2002 at the Baleciro Isthmus on the southeast coast of Brazil. The species shows an annual gametogenic cycle with spawning taking place in summer. Densities varied from 0.46 to 9.46 individuals m(-2). Density variations and seawater temperature were not significantly correlated. The population structure of O. reticulata was polymodal, with at least four co-occurring cohorts. Recruitment events were recorded in March 2001, October 2001, January 2002, and September 2002. As indicated by the asymptote size (D(infinity)=11.47 mm +/- 1.46), growth constant (K=0.42 year(-1)+/- 0.12), and oscillation index (C=0.97 +/- 0.51), the growth pattern of O. reticulata seems to be based on high survivorship of juveniles and adults, where sexual maturity is reached at a small size with rapid growth in the first 2 years of life. A low level of settlement is to be expected based on these data; however, there must be a minimum successful survivorship and development for juveniles and adults. Another explanation for the lack of small individuals (disc diameter <1.0 mm) could be that recruitment is located in a different area and a post-settlement migration might be involved in the maintenance of the population.

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Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. Methods: We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. Results: We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9-19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. Conclusion: This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.

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Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.

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We have described that MMP-9 C- T-1562 and (CA)(n) polymorphisms contribute to multiple sclerosis (MS). Here, we evaluate whether plasma MMP-9 levels are related to disease severity, drug therapy resistance and polymorphisms. For sub-study 1, 36 patients with MS and 35 controls were recruited. For sub-study 2, 88 individuals (53 patients and 35 controls) were included in a cross-sectional analysis. MS patients presented higher MMP-9 activity (1.4 +/- 0.18 versus 0.93 +/- 0.18 A.U. for control, P<0.05). Drug-therapy resistant individuals exhibited increased MMP-9 activity (1.96 +/- 0.25 versus 1.21 +/- 0.09 A.U. for non-resistant patients). EDSS score was also related to MMP-9 levels. The CT + TT and HH genotypes had higher MMP-9 levels as compared to patients carrying the CC and LL Drug therapy resistance, disease severity. MMP-9 plasma activity and polymorphisms are associated with MS. (C) 2012 Elsevier B.V. All rights reserved.

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BACKGROUND: Oral cancer overexpressed 1 (ORAOV1) was found as a candidate oncogene in the 11q13 chromosomal region, based on its amplification and overexpression in oral cancer cell lines. Because gene amplification often leads to increased levels of gene expression, we aimed to verify the relationship between ORAOV1 gene status and mRNA expression primarily in oral squamous cell carcinoma (OSCC) by quantitative assay, correlating with clinical and pathological characteristics in patients. METHODS: Levels of ORAOV1 amplification and expression were evaluated by qPCR and RT-qPCR in OSCC cell lines and in tumor and non-tumoral surgical margins from 33 patients with OSCC. All subjects were smokers and habitual alcohol drinkers, mostly men above 40 years of age and with a single primary tumor. RESULTS: ORAOV1 exhibited increased gene expression levels as well as higher copy number in three OSCC cell lines with 11q13 amplified chromosomal region when compared with the OSCC cell line without the amplification (one-way ANOVA, P < 0.05). Weak correlation between ORAOV1 mRNA levels and DNA copy number was seen in tumor samples (Spearman, P = 0.07). Although ORAOV1 was amplified in tumor (Wilcoxon, P < 0.01), high levels of transcripts in margin did not reveal differences in comparison with tumor (Wilcoxon, P = 0.85). Aggressiveness and survival rate did not demonstrate statistical difference for both events in OSCC. CONCLUSION: The overexpression of ORAOV1 in non-tumoral margin samples can occur in the absence of amplification. The weak correlation between ORAOV1 amplification and expression in OSSC suggests that ORAOV1 expression can be regulated by mechanisms other than gene amplification. J Oral Pathol Med (2012) 41: 5460