950 resultados para gain of function mutation
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
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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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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The dynamics of the restricted three-body Earth-Moon-particle problem predicts the existence of direct periodic orbits around the Lagrangian equilibrium point L1. From these orbits, we derive a set of trajectories that form links between the Earth and the Moon and are capable of performing transfers between terrestrial and lunar orbits, in addition to defining an escape route from the Earth-Moon system. When we consider a more complex and realistic dynamical system - the four-body Sun-Earth-Moon-particle (probe) problem - the trajectories have an expressive gain of inclination when they penetrate in the lunar influence sphere, thus allowing the insertion of probes into low-altitude lunar orbits with high inclinations, including polar orbits. In this study, we present these links and investigate some possibilities for performing an Earth-Moon transfer based on these trajectories. (C) 2007 COSPAR. Published by Elsevier Ltd. All rights reserved.
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Comparative genomic hybridization (CGH) was used to identify chromosomal imbalances in 19 samples of squamous cell carcinoma of the head and neck (HNSCC). The chromosome arms most often or er-represented were 3q (48%), 8q (42%), and 7p (32%); in many cases, these changes were observed at high copy number. Other commonly over-represented sites were 1q, 2q, 6p, 6q, and 18q. The most frequently under-represented segments were 3p and 22q. Loss of heterozygosity of two polymorphic microsatellite loci from chromosome 22 was observed in two tongue tumors, in agreement with the CGH analysis. Gains of 1q and 2q material were detected in patients exhibiting a clinical history of recurrence and/or metastasis followed by terminal disease. This association suggests that gain of 1q and 2q map be a new marker of head and neck tumors with a refractory clinical response. (C) 2000 Elsevier B.V. All rights reserved.
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Mutants of each of the four divalent cation binding sites of chicken skeletal muscle troponin C (TnC) were constructed using site directed mutagenesis to convert Asp to Ala at the first coordinating position in each site. With a view to evaluating the importance of site-site interactions both within and between the N- and C-terminal domains, in this study the mutants are examined for their ability to associate with other components of the troponin-tropomyosin regulatory complex and to regulate thin filaments. The functional effects of each mutation in reconstitution assays are largely confined to the domain in which it occurs, where the unmutated site is unable to compensate for the defect, Thus the mutants of sites I and II bind to the regulatory complex but are impaired in ability to regulate tension and actomyosin ATPase activity, whereas the mutants of sites III and IV regulate activity but are unable to remain bound to thin filaments unless Ca2+ is present. When all four sites are intact, free Mg2+ causes a 50-60-fold increase in TnC's affinity for the other components of the regulatory complex, allowing it to attach firmly to thin filaments. Calcium can replace Mg2+ at a concentration ratio of 1:5000, and at this ratio the Ca2 . TnC complex is more tightly bound to the filaments than the Mg2 . TnC form, In the C-terminal mutants, higher concentrations of Ca2+ (above tension threshold) are required to effect this transformation than in the recombinant wild-type protein, suggesting that the mutants reveal an attachment mediated by Ca2+ in the N-domain sites.
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The design of a Gilbert Cell Mixer and a low noise amplifier (LNA), using GaAs PHEMT technology is presented. The compatibility is shown for co-integration of both block on the same chip, to form a high performance 1.9 GHz receiver front end. The designed LNA shows 9.23 dB gain and 2.01 dB noise figure (NF). The mixer is designed to operate at RF=1.9 GHz, LO=2.0 GHz and IF=100 MHz with a gain of 14.3 dB and single sideband noise figure (SSB NF) of 9.6 dB. The mixer presents a bandwith of 8 GHz.
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Monte Carlo simulations are used to assess the adequacy of the Tanford-Kirkwood prescription for electrostatic interactions in macromolecules. Within a continuum dielectric framework, the approach accurately describes salt screening of electrostatic interactions for moderately charged systems consistent with common proteins at physiological conditions. The limitations of the Debye-Huckel theory, which forms the statistical mechanical basis for the Tanford-Kirkwood result, become apparent for highly charged systems. It is shown, both by an analysis of the Debye-Huckel theory and by numerical simulations, that the difference in dielectric permittivity between macromolecule and surrounding solvent does not play a significant role for salt effects if the macromolecule is highly charged. By comparison to experimental data, the continuum dielectric model (combined with either an approximate effective Hamiltonian as in the Tanford-Kirkwood treatment or with exact Monte Carlo simulations) satisfactorily predicts the effects of charge mutation on metal ion binding constants, but only if the macromolecule and solvent are assigned the same or similar permittivities.
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Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH analysis demonstrated overrepresentation of 8q in all three cases. One case of gynecomastia presented gain of 1p34.3similar topter. 11p14similar toq12. and 17p11.2similar toqter, and loss of 1q41similar toqter and 4q33similar toqter. The other gynecomastia presented del(1)(q41) as detected by both cytogenetic and CGH analysis. CGH analysis of the invasive ductal carcinoma confirmed a gain of 17p11.2similar toqter previously detected by cytogenetic analysis. These regions showed some similarity in their pattern of imbalance to the chromosomal alterations described in female and male breast cancer. (C) 2002 Elsevier B.V. All rights reserved.
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The chromosome number and meiotic cycle of triatomines were investigated. All five species presented the same diploid chromosome number, 2n = 22 (20A + XY in the male). Phylogenetic relationships based on chromosomal evidence and C-banded karyotypes in the subfamily are discussed. It is suggested that differences in DNA content are mainly due to variations in the amount of C-heterochromatin, which may be interpreted as loss and/or gain of C-regions. This interpretation is supported by the presence of meiotic and mitotic chromocentres which facilitate the transfer of C-positive material.
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This study was carried out to determine body composition and magnesium, potassium and sodium requirements for weight gain of Santa Ines lambs (hairy coat breed). Eighteen animals were used with average 15 kg initial LW. At the beginning of the experiment, six animals were slaughtered for the determination of the amount of each mineral retained in the body, and serving as reference animals in the comparative slaughter technique. The remaining 12 animals were divided in two groups: six were ad libitum fed and six animals were restricting fed at maintenance plus 20%. The animals from the ad libitum and restrict feeding groups started in the experimental period by pairs and they both were slaughtered when the animals from the ad libitum group reached 25 kg LW. The estimates of magnesium, potassium and sodium body composition were obtained through the prediction equations obtained by the logarithm regression of the amount of each present minerals in the empty body in function of the empty body weight (EBW). The net requirements for weight gain were obtained through the derivation of these prediction equations. The estimates of body composition per kg EBW for the animals from 15 to 25 kg were: 0.591 and 0,578 g for Mg: 2.914 and 2.776 g for K 1.830 and 1.637 g for Na; and the net requirements for kg weight gain were: 0.515 and 0.503 g for Mg: 2.408 and 2.294 g for K; 1.315 and 1.177 g for Na, respectively.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)