19 research outputs found

    Os gatekeepers na engenharia

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    Define o que são gatekeepers e apresenta a técnica sociométrica que permitiu a sua identificação entre os engenheiros de uma companhia de projetos. Depois de identificados, foi possível descrever as suas características. Descritores Gatekeeper. Engenheiro. Fluxo da informação.Comunicação informal Abstract Presents a definition and a sociometric technique through which it was possible to identify the gatekeepers among the engineers in a design company. After their identification, their characteristics were described

    Avaliação de fontes de informação usadas por engenheiros

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    Avalia a importância das fontes de informação utilizadas por engenheiros numa companhia de projetos. Analisa suas opiniões a respeito dessas fontes, em comparação com o uso real que fazem delas durante suas buscas de informação. Finaliza verificando através de quais fontes eles adquirem por acaso informações importantes para o seu desempenho profissional, sem ter de procurar por elas

    Human mutations in integrator complex subunits link transcriptome integrity to brain development

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    Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit 1 (INTS1) and Subunit 8 (INTS8) gene mutations are associated with rare recessive human neurodevelopmental syndromes. Three unrelated individuals of Dutch ancestry showed the same homozygous truncating INTS1 mutation. Three siblings harboured compound heterozygous INTS8 mutations. Shared features by these six individuals are severe neurodevelopmental delay and a distinctive appearance. The INTS8 family in addition presented with neuronal migration defects (periventricular nodular heterotopia). We show that the first INTS8 mutation, a nine base-pair deletion, leads to a protein that disrupts INT complex stability, while the second missense mutation introduces an alternative splice site leading to an unstable messenger. Cells from patients with INTS8 mutations show increased levels of unprocessed UsnRNA, compatible with the INT function in the 3’-end maturation of UsnRNA, and display significant disruptions in gene expression and RNA processing. Finally, the introduction of the INTS8 deletion mutation in P19 cells using genome editing alters gene expression throughout the course of retinoic acid-induced neural differentiation. Altogether, our results confirm the essential role of Integrator to transcriptome integrity and point to the requirement of the Integrator complex in human brain development

    Carro-biblioteca da Escola de Biblioteconomia da UFMG: uma análise da demanda de material de leitura

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    Com o objetivo de verificar os principais fatores que influem na demanda feita ao Carro-Biblioteca da Escola de Biblioteconomia da UFMG, foram analisadas algumas características dos seus usuários, suas preferências a respeito de material de leitura, razões para escolha de obras e outras alternativas existentes nos locais para obtenção de material de leitura por empréstimo. Foi dado destaque aos títulos de obras mais citados pelos usuários, com ênfase especial para os contos de fadas. Foi feita uma crítica à atuação das bibliotecas públicas locais

    Human mutations in integrator complex subunits link transcriptome integrity to brain development

    No full text
    Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit 1 (INTS1) and Subunit 8 (INTS8) gene mutations are associated with rare recessive human neurodevelopmental syndromes. Three unrelated individuals of Dutch ancestry showed the same homozygous truncating INTS1 mutation. Three siblings harboured compound heterozygous INTS8 mutations. Shared features by these six individuals are severe neurodevelopmental delay and a distinctive appearance. The INTS8 family in addition presented with neuronal migration defects (periventricular nodular heterotopia). We show that the first INTS8 mutation, a nine base-pair deletion, leads to a protein that disrupts INT complex stability, while the second missense mutation introduces an alternative splice site leading to an unstable messenger. Cells from patients with INTS8 mutations show increased levels of unprocessed UsnRNA, compatible with the INT function in the 3'-end maturation of UsnRNA, and display significant disruptions in gene expression and RNA processing. Finally, the introduction of the INTS8 deletion mutation in P19 cells using genome editing alters gene expression throughout the course of retinoic acid-induced neural differentiation. Altogether, our results confirm the essential role of Integrator to transcriptome integrity and point to the requirement of the Integrator complex in human brain development

    Human mutations in integrator complex subunits link transcriptome integrity to brain development

    No full text
    <div><p>Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic <i>Integrator Complex Subunit 1 (INTS1)</i> and <i>Subunit 8</i> (<i>INTS8)</i> gene mutations are associated with rare recessive human neurodevelopmental syndromes. Three unrelated individuals of Dutch ancestry showed the same homozygous truncating <i>INTS1</i> mutation. Three siblings harboured compound heterozygous <i>INTS8</i> mutations. Shared features by these six individuals are severe neurodevelopmental delay and a distinctive appearance. The <i>INTS8</i> family in addition presented with neuronal migration defects (periventricular nodular heterotopia). We show that the first <i>INTS8</i> mutation, a nine base-pair deletion, leads to a protein that disrupts INT complex stability, while the second missense mutation introduces an alternative splice site leading to an unstable messenger. Cells from patients with <i>INTS8</i> mutations show increased levels of unprocessed UsnRNA, compatible with the INT function in the 3’-end maturation of UsnRNA, and display significant disruptions in gene expression and RNA processing. Finally, the introduction of the <i>INTS8</i> deletion mutation in P19 cells using genome editing alters gene expression throughout the course of retinoic acid-induced neural differentiation. Altogether, our results confirm the essential role of Integrator to transcriptome integrity and point to the requirement of the Integrator complex in human brain development.</p></div
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