A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.

Transcriptome architecture across tissues in the pig

Background: Artificial selection has resulted in animal breeds with extreme phenotypes. As an organism is made up of many different tissues and organs, each with its own genetic programme, it is pertinent to ask: How relevant is tissue in terms of total transcriptome variability? Which are the genes most distinctly expressed between tissues? Does breed or sex equally affect the transcriptome across tissues?Results: In order to gain insight on these issues, we conducted microarray expression profiling of 16 different tissues from four animals of two extreme pig breeds, Large White and Iberian, two males and two females. Mixed model analysis and neighbor - joining trees showed that tissues with similar developmental origin clustered closer than those with different embryonic origins. Often a sound biological interpretation was possible for overrepresented gene ontology categories within differentially expressed genes between groups of tissues. For instance, an excess of nervous system or muscle development genes were found among tissues of ectoderm or mesoderm origins, respectively. Tissue accounted for similar to 11 times more variability than sex or breed. Nevertheless, we were able to confidently identify genes with differential expression across tissues between breeds (33 genes) and between sexes (19 genes). The genes primarily affected by sex were overall different than those affected by breed or tissue. Interaction with tissue can be important for differentially expressed genes between breeds but not so much for genes whose expression differ between sexes.Conclusion: Embryonic development leaves an enduring footprint on the transcriptome. The interaction in gene x tissue for differentially expressed genes between breeds suggests that animal breeding has targeted differentially each tissue's transcriptome.

Gene expression in placentation of farm animals: An overview of gene function during development

Eutherian mammals share a common ancestor that evolved into two main placental types, i.e., hemotrophic (e.g., human and mouse) and histiotrophic (e.g., farm animals), which differ in invasiveness. Pregnancies initiated with assisted reproductive techniques (ART) in farm animals are at increased risk of failure; these losses were associated with placental defects, perhaps due to altered gene expression. Developmentally regulated genes in the placenta seem highly phylogenetically conserved, whereas those expressed later in pregnancy are more species-specific. To elucidate differences between hemotrophic and epitheliochorial placentae, gene expression data were compiled from microarray studies of bovine placental tissues at various stages of pregnancy. Moreover, an in silico subtractive library was constructed based on homology of bovine genes to the database of zebrafish - a nonplacental vertebrate. In addition, the list of placental preferentially expressed genes for the human and mouse were collected using bioinformatics tools (Tissue-specific Gene Expression and Regulation [TiGER] - for humans, and tissue-specific genes database (TiSGeD) - for mice and humans). Humans, mice, and cattle shared 93 genes expressed in their placentae. Most of these were related to immune function (based on analysis of gene ontology). Cattle and women shared expression of 23 genes, mostly related to hormonal activity, whereas mice and women shared 16 genes (primarily sexual differentiation and glycoprotein biology). Because the number of genes expressed by the placentae of both cattle and mice were similar (based on cluster analysis), we concluded that both cattle and mice were suitable models to study the biology of the human placenta. (C) 2011 Elsevier B.V. All rights reserved.

Computational linguistic systematization of a lexicon from the ibitinga embroidery industry conceptual domain

This work discusses a proposition for organizing the lexical items from the conceptual domain labeled THE EMBROIDERY INDUSTRY OF IBITINGA in terms of a natural ontology. It also aims to establish the alignment between this ontology and the bases WordNet.Pr and WordNet.Br. © 2009 IEEE.

3D semantic models for dental education

This paper explores the benefits of using immersive and interactive virtual reality environments to teach Dentistry. We present a tool for educators to manipulate and edit virtual models. One of the main contributions is that multimedia information can be semantically associated with parts of the model, through an ontology, enriching the experience; for example, videos can be linked to each tooth demonstrating how to extract them. The use of semantic information gives a greater flexibility to the models, since filters can be applied to create temporary models that show subsets of the original data in a human friendly way. We also explain how the software was written to run in arbitrary multi-projection environments. © 2011 Springer-Verlag.

Optimization of query results in peer-to-peer database supported by semantics

The development of new technologies that use peer-to-peer networks grows every day, with the object to supply the need of sharing information, resources and services of databases around the world. Among them are the peer-to-peer databases that take advantage of peer-to-peer networks to manage distributed knowledge bases, allowing the sharing of information semantically related but syntactically heterogeneous. However, it is a challenge to ensure the efficient search for information without compromising the autonomy of each node and network flexibility, given the structural characteristics of these networks. On the other hand, some studies propose the use of ontology semantics by assigning standardized categorization of information. The main original contribution of this work is the approach of this problem with a proposal for optimization of queries supported by the Ant Colony algorithm and classification though ontologies. The results show that this strategy enables the semantic support to the searches in peer-to-peer databases, aiming to expand the results without compromising network performance. © 2011 IEEE.

Design and evaluation of an advanced virtual reality system for visualization of dentistry structures

This paper presents the development of an application created to assist the teaching of dental structures, generate rich content information and different manners of interaction. An ontology was created to provide semantics informations for virtual models. We also used two devices gesture-based interaction: Kinect and Wii Remote. It was developed a system which use intuitive interaction, and it is able to generate three dimensional images, making the experience of teaching / learning motivating. The projection environment used by the system was called Mini CAVE. © 2012 IEEE.

Estruturação do conhecimento e relações semânticas: uma ontologia para o domínio da naonociência e nanotecnologia

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

Affordances: a relação entre agente e ambiente

Pós-graduação em Filosofia - FFC

Duas formas da recepção das idéias de Lukács no Brasil: estética e ontologia

Pós-graduação em Ciências Sociais - FFC

Os desafios de Prometeu em uma era fáustica: as ideologias do pós-humano

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Lukács e os limites histórico-ontológicos da sociologia como disciplina do período de decadência ideológica burguesa

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Práxis e a noção de prática nos documentos oficiais sobre a formação de professores

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Lineamentos da atividade mediadora em Vygotski

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Uma ferramenta para captura de ontologias baseada na técnica ISM

Pós-graduação em Engenharia Mecânica - FEB