4 research outputs found

    Effects of Collaborative Group Activities on Students’ Interest, Course Participation, and Performance in an Online Physics Course

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    The purpose of this study was to investigate the impact of the use of collaborative work activities in online physics courses as perceived by students. Nearly identical surveys were administered at the beginning and end of two semesters to ascertain student perception on the impact of the utilization on their level of interest, participation, performance as well as teamwork skills. The results show that the majority of the population tested strongly agree that collaborative work had significant effect on all core areas tested, and they support the notion that it should be further utilized in both lecture and lab portions of the course. Testing on the data suggests that the group impacted the most were those deemed “low achieving”

    Mutations in KEOPS-Complex Genes Cause Nephrotic Syndrome with Primary Microcephaly

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    Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms

    Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

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