Browsing by Author "Marcelain, Katherine"
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- ItemDaam1a mediates asymmetric habenular morphogenesis by regulating dendritic and axonal outgrowth(2013) Colombo, Alicia; Palma, Karina; Armijo, Lorena; Mione, Marina; Signore, Iskra A.; Morales, Camila; Guerrero, Néstor; Meynard, Margarita M.; Pérez, Ramón; Suazo, José; Marcelain, Katherine; Briones, Luis; Häertel, Steffen; Wilson, Stephen W.; Concha, Miguel L.
- ItemGallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers(2023) Zollner, Linda; Boekstegers, Felix; Barahona Ponce, Carol; Scherer, Dominique; Marcelain, Katherine; Gárate-Calderón, Valentina; Waldenberger, Melanie; Morales Mejías, Erik; Rojas, Armando; Muñoz, César; Retamales, Javier; Toro, Gonzalo De; Vera Kortmann, Allan; Barajas, Olga; Rivera, María Teresa; Cortés, Analía; Loader, Denisse; Saavedra, Javiera; Gutiérrez, Lorena; Ortega, Alejandro; Bertrán, María Enriqueta; Bartolotti, Leonardo; Gabler, Fernando; Campos, Mónica; Alvarado, Juan; Moisán, Fabricio; Spencer, María Loreto; Nervi Nattero, Bruno; Carvajal-Hausdorf, Daniel; Losada, Héctor; Almau, Mauricio; Fernández, Plinio; Olloquequi, Jordi; Carter, Alice R.; Miquel P., Juan Francisco; Bustos, Bernabé I.; Fuentes Guajardo, Macarena; Gonzalez-Jose, Rolando; Bortolini, Maria Cátira; Acuña-Alonzo, Victor; Gallo, Carla; Ruiz Linares, Andrés; Rothhammer, Francisco; Bermejo, Justo LorenzoA strong association between the proportion of indigenous South American Mapuche ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest indigenous people in Chile. We set out to assess the confounding-free effect of the individual proportion of Mapuche ancestry on GBC risk and to investigate the mediating effects of gallstone disease and body mass index (BMI) on this association. Genetic markers of Mapuche ancestry were selected based on the informativeness for assignment measure, and then used as instrumental variables in two-sample Mendelian randomization analyses and complementary sensitivity analyses. Results suggested a putatively causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% per 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.7 × 10−5) and also on gallstone disease (3.6% IVW risk increase, 95% CI 3.1% to 4.0%), pointing to a mediating effect of gallstones on the association between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative effect on BMI (IVW estimate −0.006 kg/m2, 95% CI −0.009 to −0.003). The results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between the individual proportion of Mapuche ancestry and GBC risk previously noted in observational studies appears to be free of confounding, primary and secondary prevention strategies that consider genetic ancestry could be particularly efficient.
- ItemSubtypes of Native American ancestry and leading causes of death: Mapuche ancestry-specific associations with gallbladder cancer risk in Chile(2017) Bermejo, Justo Lorenzo; Boekstegers, Felix; González Silos, Rosa; Marcelain, Katherine; Báez Benavides, Pablo; Barahona Ponce, Carol; Müller, Bettina; Ferreccio Readi, Catterina; Koshiol, Jill; Fischer, Christine
- ItemThe Ski Protein is Involved in the Transformation Pathway of Aurora Kinase A(WILEY, 2016) Rivas, Solange; Armisen, Ricardo; Rojas, Diego A.; Maldonado, Edio; Huerta, Hernan; Tapia, Julio C.; Espinoza, Jaime; Colombo, Alicia; Michea, Luis; Hayman, Michael J.; Marcelain, KatherineOncogenic kinase Aurora A (AURKA) has been found to be overexpresed in several tumors including colorectal, breast, and hematological cancers. Overexpression of AURKA induces centrosome amplification and aneuploidy and it is related with cancer progression and poor prognosis. Here we show that AURKA phosphorylates in vitro the transcripcional co-repressor Ski on aminoacids Ser326 and Ser383. Phosphorylations on these aminoacids decreased Ski protein half-life. Reduced levels of Ski resulted in centrosomes amplification and multipolar spindles formation, same as AURKA overexpressing cells. Importantly, overexpression of Ski wild type, but not S326D and S383D mutants inhibited centrosome amplification and cellular transformation induced by AURKA. Altogether, these results suggest that the Ski protein is a target in the transformation pathway mediated by the AURKA oncogene. (C) 2015 Wiley Periodicals, Inc.