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991.
Mutations in EDNRB gene have been reported to cause Waardenburg-Shah syndrome (WS4) in humans. We investigated 17 patients
with WS4 for identification of mutations in EDNRB gene using PCR and direct sequencing technique. Four genomic mutations were
detected in four patients; a G to C transversion in codon 335 (S335C) in exon 5 and a transition of T to C in codon (S361L)
in exon 5, a transition of A to G in codon 277 (L277L) in exon 4, a non coding transversion of T to A at −30 nucleotide position
of exon 5. None of these mutations were found in controls. One of the patients harbored two novel mutations (S335C, S361L)
in exon 5 and one in Intronic region (−30exon5 A>G). All of the mutations were homozygous and novel except the mutation observed
in exon 4. In this study, we have identified 3 novel mutations in EDNRB gene associated with WS4 in Pakistani patients. 相似文献
992.
In this work the presence of broad-host-plasmids in an estuary in Portugal has been investigated. Pseudomonas putida KT2442 was used as model recipient bacteria in biparental matings with tetracycline and mercury to select for resistance phenotypes. As a result, 7 transconjugants were shown to carry broad-host-plasmids from the IncP-1 group, as seen by PCR amplification of the trfA gene. Sequence analysis confirmed the isolation of 4 plasmids from β-1 subgroup and 3 assigned to the recently described ε subgroup. To our knowledge this is the first report concerning the detection and isolation of IncP-1β and ε plasmids in estuarine waters. Moreover it is shown that, even though the retrieved plasmids are phylogenetically close to previously characterized plasmids, such as pB10 and pKJK5, respectively, they constitute new molecular variants. 相似文献
993.
Oliveira RP Basso LC Junior AP Penna TC Del Borghi M Converti A 《Biological trace element research》2012,145(1):71-80
Most of the metals released from industrial activity, among them are cadmium (Cd) and nickel (Ni), inhibit the productivity
of cultures and affect microbial metabolism. In this context, the aim of this work was to investigate the capacity of sugar
cane vinasse to mitigate the adverse effects of Cd and Ni on cell growth, viability, budding rate and trehalose content of
Saccharomyces cerevisiae, likely because of adsorption and chelating action. For this purpose, the yeast was grown batch-wise in YED medium supplemented
with selected amounts of vinasse and Cd or Ni. The negative effects of Cd and Ni on S. cerevisiae growth and the mitigating one of sugar cane vinasse were quantified by an exponential model. Without vinasse, the addition
of increasing levels of Cd and Ni reduced the specific growth rate, whereas in its presence no reduction was observed. Consistently
with the well-proved toxicity of both metals, cell viability and budding rate progressively decreased with increasing their
concentration, but in the presence of vinasse the situation was remarkably improved. The trehalose content of S. cerevisiae cells followed the same qualitative behavior as cell viability, even though the negative effect of both metals on this parameter
was stronger. These results demonstrate the ability of sugar cane vinasse to mitigate the toxic effects of Cd and Ni. 相似文献
994.
Tiago Siebert Altavini Leonardo Dutra Henriques Daniela Maria Oliveira Bonci Balázs Vince Nagy Dora Fix Ventura Valdir Filgueiras Pessoa 《International journal of primatology》2012,33(6):1467-1476
The identification of color vision types in primates is fundamental to understanding the evolution and biological function of color perception. The Hard, Randy, and Rittler (HRR) pseudoisochromatic test categorizes human color vision types successfully. Here we provide an experimental setup to employ HRR in a nonhuman primate, the capuchin (Cebus libidinosus), a platyrrhine with polymorphic color vision. The HRR test consists of plates with a matrix composed of gray circles that vary in size and brightness. Differently colored circles form a geometric shape (X, O, or Δ) that is discriminated visually from the gray background pattern. The ability to identify these shapes determines the type of dyschromatopsy (deficiency in color vision). We tested six capuchins in their own cages under natural sunlight. The subjects chose between two HRR plates in each trial: one with the gray pattern only and the other with a colored shape, presented on the left or right side at random. We presented the test 40 times and calculated the 95?% confidence limits for chance performance based on the binomial test. We also genotyped all subjects for exons 3 and 5 of the X-linked opsin genes. The HRR test diagnosed two subjects as protan dichromats (missing or defective L-cone), three as deutan dichromats (missing or defective M-cone), and one female as trichromat. Genetic analysis supported the behavioral data for all subjects. These findings show that the HRR test can be applied to diagnose color vision in nonhuman primates. 相似文献
995.
Colussi F Garcia W Rosseto FR de Mello BL de Oliveira Neto M Polikarpov I 《European biophysics journal : EBJ》2012,41(1):89-98
Due to its elevated cellulolytic activity, the filamentous fungus Trichoderma harzianum (T. harzianum) has considerable potential in biomass hydrolysis application. Cellulases from Trichoderma reesei have been widely used in studies of cellulose breakdown. However, cellulases from T. harzianum are less-studied enzymes that have not been characterized biophysically and biochemically as yet. Here, we examined the effects
of pH and temperature on the secondary and tertiary structures, compactness, and enzymatic activity of cellobiohydrolase Cel7A
from T. harzianum (Th Cel7A) using a number of biophysical and biochemical techniques. Our results show that pH and temperature perturbations affect
Th Cel7A stability by two different mechanisms. Variations in pH modify protonation of the enzyme residues, directly affecting
its activity, while leading to structural destabilization only at extreme pH limits. Temperature, on the other hand, has direct
influence on mobility, fold, and compactness of the enzyme, causing unfolding of Th Cel7A just above the optimum temperature limit. Finally, we demonstrated that incubation with cellobiose, the product of
the reaction and a competitive inhibitor, significantly increased the thermal stability of Th Cel7A. Our studies might provide insights into understanding, at a molecular level, the interplay between structure and activity
of Th Cel7A at different pH and temperature conditions. 相似文献
996.
M. Quara de Carvalho Santos J. R. Gonzaga Lemos C. do Nascimento Pereira A. Teixeira de Oliveira M. Tavares‐Dias J. L. Marcon 《Zeitschrift fur angewandte Ichthyologie》2012,28(1):148-149
The present work reports the length–weight relationships (LWR) for four ornamental fish species from the middle Negro River basin, Amazonas, Brazil. The r2 value ranged from 0.810 to 0.941 and values of b varied from 2.346 to 3.442. These results represent the first reference on LWR for all four species, based on FishBase. 相似文献
997.
998.
I.C. Macedo L.F. Medeiros C. Oliveira C.M. Oliveira J.R. Rozisky V.L. Scarabelot A. Souza F.R. Silva V.S. Santos S.G. Cioato W. Caumo I.L.S. Torres 《Peptides》2012
Obesity is a disease that has become a serious public health issue worldwide, and chronic stressors, which are a problem for modern society, cause neuroendocrine changes with alterations in food intake. Obesity and chronic stress are associated with the development of cardiovascular diseases and metabolic disorders. In this study, a rat model was used to evaluate the effects of a hypercaloric diet plus chronic restraint stress on the serum leptin and lipids levels and on the weight of specific adipose tissue (mesenteric, MAT; subcutaneous, SAT and visceral, VAT). Wistar rats were divided into the following 4 groups: standard chow (C), hypercaloric diet (HD), stress plus standard chow (S), and stress plus hypercaloric diet (SHD). The animals in the stress groups were subjected to chronic stress (placed inside a 25 cm × 7 cm plastic tube for 1 h per day, 5 days per week for 6 weeks). The following parameters were evaluated: the weight of the liver, adrenal glands and specific adipose tissue; the delta weight; the Lee index; and the serum levels of leptin, corticosterone, glucose, total cholesterol, and triglycerides. The hypercaloric diet induced obesity in rats, increasing the Lee index, weight, leptin, triglycerides, and cholesterol levels. The stress decreased weight gain even in animals fed a hypercaloric diet but did not prevent a significant increase in the Lee index. However, an interaction between the independent factors (hypercaloric diet and stress) was observed, which is demonstrated by the increased serum leptin levels in the animals exposed to both protocols. 相似文献
999.
Tatiane Katsue Furuya Patrícia Natália Oliveira da Silva Spencer Luiz Marques Payão Lucas Trevizani Rasmussen Roger Willian de Labio Paulo Henrique Ferreira Bertolucci Ianna Lacerda Sampaio Braga Elizabeth Suchi Chen Gustavo Turecki Naguib Mechawar Jonathan Mill Marília de Arruda Cardoso Smith 《Neurochemistry international》2012
Alzheimer’s Disease (AD) is a neurodegenerative disorder and the most common cause of dementia among the elderly. Efforts have been made to understand the genetic and epigenetic mechanisms involved in the development of this disease. As SORL1 (sortilin-related receptor) and SIRT1 (sirtuin 1) genes have been linked to AD pathogenesis, we aimed to investigate their mRNA expression and promoter DNA methylation in post mortem brain tissues (entorhinal and auditory cortices and hippocampus) from healthy elderly subjects and AD patients. We also evaluated these levels in peripheral blood leukocytes from young, healthy elderly and AD patients, investigating whether there was an effect of age on these profiles. The comparative CT method by Real Time PCR and MALDI-TOF mass spectrometry were used to analyze gene expression and DNA methylation, respectively. SORL1 gene was differently expressed in the peripheral blood leukocytes and might act as a marker of aging in this tissue. Furthermore, we found that SORL1 promoter DNA methylation might act as one of the mechanisms responsible for the differences in expression observed between blood and brain for both healthy elderly and AD patients groups. The impact of these studied genes on AD pathogenesis remains to be better clarified. 相似文献
1000.
M N Alvim F T Ramos D C Oliveira RMS Isaias M G C França 《Journal of biosciences》2012,37(1):1079-1088
We correlated root growth inhibition with aluminium (Al3+) localization and toxicity symptoms in rice roots using seedlings of two genotypes (tolerant and sensitive) that were exposed to different AlCl3 concentrations. Al3+ localization was evaluated by hematoxylin in primary roots and by morin in cross-sections of the root tips. Neutral invertase enzyme activity and callose (1→3, β-d-glucan) accumulation were observed and compared with Al3+ accumulation sites. Root growth was inhibited by Al3+ in a concentration-specific manner and proportional to the increase of hematoxylin staining, being more pronounced in the sensitive genotype. Morin staining showed the presence of Al3+ deep within the roots of the sensitive genotype, indicating that the metal was able to penetrate beyond the first few cell layers. In the tolerant genotype, Al3+ penetration was restricted to the first two cell layers. Ruptures in exodermis and epidermis layers by lateral root protrusions in both genotypes allowed Al3+ to enter into the roots. More intense activity of invertase in roots of the tolerant genotype was also observed, which could be related to greater root growth of this cultivar when submitted to Al3+ stress. Moreover, Al3+-induced callose accumulation was a late response occurring in the same areas where Al3+ was present. 相似文献