947 resultados para loss of function mutation
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Male scorpions (Tityus bahiensis) that have been deprived of their hemispermatophores and hemispermatophore sheaths retain their ability to court females despite their inability to mate successfully. Although hemispermatophores usually regenerate rapidly in nature, no such regeneration occurred after experimental amputation.
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Thirty-eight tumors (five grade I-II astrocytomas, three grade III astrocytomas, four glioblastomas, one oligodendroglioma, four ependymomas, one pineocytoma, three medulloblastomas, four acoustic nerve neurinomas, one intraspinal neurinoma, one neurofibroma, 10 meningiomas, and one craniopharyngioma) and three benign lesions of the nervous system were evaluated cytogenetically after in vitro culture. Sex chromosome loss was detected in 56% of the cases (-X in 13 of the 25 female patients and -Y in nine of the 16 male patients). The objective of the present report was to study the role of this abnormality in cells of the nervous system.
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Background. IGF2 and H19 are reciprocal imprinted genes with paternal and maternal monoallelic expression, respectively. This is interesting, because IGF2 is known as a growth factor, and H19 encodes a RNA with putative tumor suppressor action. Furthermore, IGF2 and H19 are linked genes located on chromosome 11p15.5, a common site of loss of heterozygosity in human cancers.Methods. We performed an allelic-typing assay using a PCR-RFLP-based method for identification of heterozygous Informative cases in head and neck squamous cell carcinomas. Tumoral total RNA was extracted from each of the heterozygotes and further studied by RT-PCR analysis.Results. We detected the expression of the IGF2 gene in 10 of 10 informative cases. Two cases exhibited LOI of the IGF2 gene as evidenced by biallelic expression, and in another case, LOH was coupled with monoallelic expression of this growth factor. LOI for the H19 gene was observed in 1 of 14 informative samples analyzed. In this case, we also detected parallel mono-allelic expression of the IGF2 gene. Down-regulation of the H19 gene was observed in 10 of 14 cases.Conclusion. These findings support the hypothesis that H19 may be a tumor suppressor gene involved In head and neck carcinogenesis. Furthermore, our data showed that genetic and epigenetic chances at 11p15.5 could lead to abnormal expression of imprinted genes in HNSCC. (C) 2001 John Wiley & Sons, Inc.
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This work presents the complete set of features for solutions of a particular non-ideal mechanical system near the fundamental and near to a secondary resonance region. The system comprises a pendulum with a horizontally moving suspension point. Its motion is the result of a non-ideal rotating power source (limited power supply), acting oil the Suspension point through a crank mechanism. Main emphasis is given to the loss of stability, which occurs by a sequence of events, including intermittence and crisis, when the system reaches a chaotic attractor. The system also undergoes a boundary-crisis, which presents a different aspect in the bifurcation diagram due to the non-ideal supposition. (c) 2004 Published by Elsevier B.V.
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Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this mutation as a candidate risk factor for venous thrombosis.Design and Methods. The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagnosed deep venous thrombosis and in 101 healthy controls matched for age, sex and race. PCR amplification of a DNA fragment containing exon 8 of the CBS gene was employed to determine the genotypes, Additionally, Bsrl restriction enzyme digestion of the PCR products was performed in all samples from carriers of the insertion, to test for concurrent presence of a second mutation (T833C) in the CBS gene.Results. The insertion was found in 21 out of 101 patients (20.8%; allele frequency 0.109) and in 20 out of 101 controls (19.8%; allele frequency 0.114), yielding a relative risk for venous thrombosis related to the 844ins68 CBS mutation close to 1.0. In addition, the T833C GBS mutation was detected in all alleles carrying the 844ins68 CBS insertion, confirming the co-inheritance of the two mutations.Interpretation and Conclusions. Our findings do not support the hypothesis that the 844ins68 mutation in the CBS gene is a genetic risk factor for venous thrombosis. (C)1998, Ferrata Storti Foundation.
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In order to develop statistical models to predict respiratory heat loss in dairy cattle using simple physiological and environmental measurements, 15 Holstein cows were observed under field conditions in a tropical environment, in which the air temperature reached up to 40 ° C. The measurements of latent and sensible heat loss from the respiratory tract of the animals were made by using a respiratory mask. The results showed that under air temperatures between 10 and 35 ° C sensible heat loss by convection decreased from 8.24 to 1.09 W m(-2), while the latent heat loss by evaporation increased from 1.03 to 56.51 W m(-2). The evaporation increased together with the air temperature in almost a linear fashion until 20 ° C, but it became increasingly high as the air temperature rose above 25 ° C. Convection was a mechanism of minor importance for respiratory heat transfer. In contrast, respiratory evaporation was an effective means of thermoregulation for Holsteins in a hot environment. Mathematical models were developed to predict both the sensible and latent heat loss from the respiratory tract in Holstein cows under field conditions, based on measurements of the ambient temperature, and other models were developed to predict respiration rate, tidal volume, mass flow rate and expired air temperature as functions of the ambient temperature and other variables.
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Aims Endometrial cancer is one of the most common cancers in women worldwide, but there is a lack of diagnostic markers for early detection of these tumours. The raf kinase inhibitory protein (RKIP) negatively regulates the Raf/MEK/ERK pathway, and the downregulation of RKIP is associated with tumour progression and metastasis in several human neoplasms. The aim of this study was to assess the expression levels of RKIP in endometrial cancer and determine whether this expression correlates with clinical outcome in these patients.Methods Tissue microarrays constructed using tissue samples from 209 endometrial adenocarcinomas, 49 endometrial polyps and 48 endometrial hyperplasias were analysed for RKIP expression by immunohistochemistry.Results The authors found that RKIP expression decreases significantly during malignant progression of endometrial cancer; it is highly expressed in non-neoplastic tissues (polyps 79.6%; hyperplasias 87.5%) and expressed at very low levels in endometrioid adenocarcinomas (29.7%). No correlations were observed between RKIP expression, clinicopathological data and survival.Conclusion This study demonstrated for the first time that RKIP expression is lost during the carcinogenic evolution of endometrial tumours and that the loss of RKIP expression is associated with a malignant phenotype. Functional studies are needed to address the biological role of RKIP downregulation in endometrial cancer.
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The past decade has seen increased international recognition of the importance of the services provided by natural ecosystems. It is unclear however whether such international awareness will lead to improved environmental management in many regions. We explore this issue by examining the specific case of fish migration and dams on the Mekong river. We determine that dams on the Mekong mainstem and major tributaries will have a major impact on the basin's fisheries and the people who depend upon them for food and income. We find no evidence that current moves towards dam construction will stop, and consider two scenarios for the future of the fisheries and other ecosystems of the basin. We conclude that major investment is required in innovative technology to reduce the loss of ecosystem services, and alternative livelihood strategies to cope with the losses that do occur.
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Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this mutation as a candidate risk factor for venous thrombosis. Design and Methods. The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagnosed deep venous thrombosis and in 101 healthy controls matched for age, sex and race. PCR amplification of a DNA fragment containing exon 8 of the CBS gene was employed to determine the genotypes. Additionally, Bsrl restriction enzyme digestion of the PCR products was performed in all samples from carriers of the insertion, to test for concurrent presence of a second mutation (T833C) in the CBS gene. Results. The insertion was found in 21 out of 101 patients (20.8%; allele frequency 0.109) and in 20 out of 101 controls (19.8%; allele frequency 0.114), yielding a relative risk for venous thrombosis related to the 844ins68 CBS mutation close to 1.0. In addition, the T833C CBS mutation was detected in all alleles carrying the 844ins68 CBS insertion, confirming the co- inheritance of the two mutations. Interpretation and Conclusions. Our findings do not support the hypothesis that the 844ins68 mutation in the CBS gene is a genetic risk factor for venous thrombosis.
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The premature loss of primary teeth may harm the normal occlusal development, although there are debates relating to the necessity of using space maintainer appliances. The aim of the study is to evaluate the changes in the dental arch perimeter and the space reduction after the premature loss of the lower first primary molar in the mixed dentition stage. The sample consists of 4 lower arch plaster models of 31 patients, within the period of pre-extraction, 6, 12 and 18 months after the lower first primary molar extraction. A reduction of space was noted with the cuspid dislocation and the permanent incisors moving toward the space of the extraction site. It was concluded that the lower first molar primary premature loss, during the mixed dentition, implicates an immediate placement of a space maintainer.
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Background: Frequent loss of heterozygosity (LOH) has been reported in many types of cancer, including head and neck carcinomas. Somatic deletions involving specific chromosomal regions are strongly associated with inactivation of the allele of a tumor suppressor gene located within the deleted region. In most studies concerning LOH in head and neck squamous cell carcinomas (HNSCC) the different anatomical sites are not distinguished. The behavior of tumors arising at various sites differs significantly, however, suggesting different intrinsic tumor properties. In this study we compared the LOH on 22q and its relationship to clinicopathological parameters at the three major sites of HNSCC: oral cavity, larynx and pharynx. Material/Methods: LOH and microsatellite instability (MSI) were studied using seven polymorphic microsatellite markers mapped to the 22q11-q13.3 region in 37 oral, 32 laryngeal, and 31 pharyngeal carcinomas. Results: Two separate regions of LOH were identified in the laryngeal (22q11.2-12.1) and oral cavity (22q13.1-13.31) tumors. When the different anatomical sites were compared, a statistically significant difference was found between the presence of LOH at D22S421 (p<0.001), D22S315 (p=0.014) and D22S929 (p=0.026) in the laryngeal tumors. Conclusions: These data suggest that distinct regions on 22q are involved in LOH in oral cavity and laryngeal tumorigenesis but do not support a similar association between the development of pharyngeal tumors and genes located on 22q. These findings implicate the presence of different tumor suppressor genes mapping to distinct regions on chromosome 22q in oral and laryngeal carcinomas.
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Loss of function, muscle inflammation, and pain are some of the signs and symptoms of temporomandibular dysfunction (TMD). Pharmacological strategies to minimize the clinical manifestation of these disorders often focus on blocking or inhibiting the pain-causing symptom. Resources such as muscle-relaxants, anxiety-relief drugs, and splint therapy are often used to reduce muscular hyperactivity related to TMD muscle pain. This study compares the effect of a randomly ordered association of occlusal splint therapy (S), nonsteroid anti-inflammatory with a muscle-relaxant drug (orphenadrine citrate) (O), and an anxiety-relief drug (benzodiazepine) (B), to ease painful TMD muscle symptoms. Clinical and anamnestic analyses were recorded in accordance with the Helkimo TMD index and applied before and after treatments. Twenty-one group two Helkimo TMD adult female patients were treated, all of whom were subjected to the three random therapeutic associations proposed: SBO, BOS, and OSB. The same operator applied the three specific associations over a period of 21 days in the proposed sequence, seven days for each therapy. The results show that all the groups presented the best results in terms of relief from pain after the therapeutic association (28.5% showed a decrease and 47.6% showed an absence of symptoms). No significant difference was observed among association therapeutic protocols. Copyright © 2003 by CHROMA, Inc.
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There has been a rapid increase in the complexity and integration of many safety-critical systems. In consequence, it is becoming increasingly difficult to identify the causes of incidents and accidents back through the complex interactions that lead to an adverse event. At the same time, there is a growing appreciation of the need to consider a broad range of contextual factors in the aftermath of any mishap. A number of regulators, operators and research teams have responded to these developments by proposing novel techniques to support the analysis of complex, safety-critical incidents. It is important to illustrate these different approaches by applying them to a number of common case studies. The following pages, therefore, show how STAMP and AcciMap might support the Serviço Público Federal investigation into the explosion and fire of the Brazilian launch vehicle VLS-1 VO3. © 2006 Elsevier Ltd. All rights reserved.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The objective of this experiment was to evaluate dry matter yield and loss of grazing due to animal trampling in response to sowing density and spacing between lines in the planting. Sorghum hybrid 1P400 was submitted to six treatments, composed of three sowing density combinations (12; 16 and 20 kg/ha of seeds) and two spacing between lines (0.40 and 0.80 m). Sorghum hybrid 1P400 was sowed in two seasons, at the end of spring (December 3rd, 2005) and the other at the end of summer (March 20th, 2006). Cultivation strategies influenced plant population in the two experimental seasons. Diameter of the stem in season 1 decreased with density increase, whereas in the second season, interaction between sowing density and spacing was significant. In the first season, 0.40-m spacing promoted greater losses due to grazing stepping, that is, 891 kg/ha of DM, whereas in the second season there was no statistical difference. There was no significant difference in forage dry matter yield in sowing densities among the two studied seasons. Dry mater production of sorghum hybrids 1P400 did not increase with the increase of the sowing density in the two sowing seasons, therefore it is recommended 12 kg/ha of seeds for the sowing. Sorghum IP400 cultivated in 0.80-m spacing resulted in lower forage loss caused by grazing bovine trampling. © 2011 Sociedade Brasileira de Zootecnia.