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Item type:Publication, Genomic modifiers of neurological resilience in a Niemann‐Pick C family(Wiley, 2025-06-12) ;Macarena Las Heras ;Benjamín Szenfeld ;Valeria Olguín ;Juan Carlos RubilarNiemann-Pick type C (NPC) disease, caused by NPC1 or NPC2 variants, disrupts cholesterol and glycolipid trafficking, leading to diverse clinical manifestations. To understand the genetic basis of neurological resilience, we analyzed an NPC family with variable phenotypes, identifying loss-of-function variants in CCDC115, SLC4A5, DEPDC5, ETFDH, SNRNP200, and DOCK1 that co-segregated with milder neurological involvement. Using yeast models, we successfully predicted NPC-like severity based on orthologous gene variants. RNA-seq revealed a positive correlation between mitochondrial transcripts and cellular fitness. Modeling NPC in yeast lacking the SLC4A5 ortholog, bor1, enhanced cellular fitness, improved mitochondrial function, and reduced sterol accumulation. Our findings identify potential modifiers and biomarkers of NPC severity, highlighting mitochondrial pathways and SLC4A5 as a therapeutic target.6 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The role of the behavioral immune system in the expression of short and long-term orientation in young Chilean men during the COVID-19 pandemic(Springer Science and Business Media LLC, 2025-02-07); ; ;Daniel Torrico-Bazoberry; The COVID-19 pandemic drastically changed people's lives. It had consequences at the individual and social level. The behavioral immune system predicts that when faced with the risk of contagion from pathogens, people tend to reduce their sociality, especially sociosexuality. We examine this prediction by evaluating decreases in the pandemic of the different dimensions of sociosexuality of young men (i.e., short and long-term mating orientation, sexual desire, and sociosexual behavior) and considering their relationship status (single or paired). Methods and materials We compared data from two cross-sectional studies carried out in the laboratory with convenience sampling methods in the pre-pandemic period (in the years 2016 and 2018 with a sample size of N = 463) and pandemic (face-to-face panstudy N = 234,data online, N = 182), considering possible differences between samples of the same period. We reached an N = 879 young men who answered a sociodemographic questioarticipants answered a sociodemographic questionnaire that inclnnaire and the Multidimensional Sociosexual Orientation Inventory. To test our predictions, we fitted general linear models. Results point to a significant decrease in long-term mating orientation in paired and single men, but only when compared with the pandemic face-to-face study. In addition, no differences were found for short-term mating orientation. For sociosexual desire (i.e., sexual fantasies), we found a reduction in single pre-pandemic individuals to be compared with the sample of pandemic online study. Finally, we found a decrease in sociosexual behavior (i.e., number of partners in the last year) between pre-pandemic samples and the pandemic itself, regardless of their relationship status and samples inside of each period. In addition, we carry out analyses with a reduced sample to re-test our predictions based on the perception of contagion risk (measured by a survey from OMS). We find changes are maintained at the level of sociosexual desire and sexual behavior but mainly in those individuals with a greater perception of the risk of contagion. The hypotheses derived from the behavioral immune system regarding the decrease in sociosexuality in a context of risk of contagion by pathogens, as was the case in the initial period of COVID-19, are corroborated only in terms of desire and behavior, which suggests a certain stability in attitudes i.e., the menace of contagion modifies proximal aspects of sociosexuality, such as fantasies and behavior, but has no apparent effect on the calibration of the predisposition of individuals to varying levels of commitment in sexual relationships. These findings will allow us to understand better how the dimensions of sociosexuality (i.e., fantasies, attitudes and behavior) are affected when there are contexts of high risk of contagion, such as COVID-19. These findings will allow us to understand better how sociosexuality is affected when there are contexts of high risk of contagion, such as COVID-19.1Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Validación de un modelo de enseñanza musical para la educación en general(2024) ;Felipe Porflitt Becerra ;Rolando Andrés Jeldres ZamoranoAlfonso Norero Saavedra<jats:p>Introducción: El presente artículo revisa el estado del arte en base a la visión actual y antigua de la enseñanza de la música, mostrando concordancias y discordancias, con el objetivo de construir y validar un modelo de enseñanza de la música. Metodología: Se realizó una revisión de literatura para determinar las categorías de construcción y posterior diseño del modelo, el cual fue validado por docentes de distintos rangos etarios de la educación. Resultados: Se muestra una valoración alta al modelo en sí mismo, así como también, por el lado contrario, algunas discrepancias para docentes de enseñanza formal y no formal. Asimismo, existió una tensión entre si el uso de la teoría de la música es estrictamente necesaria en la educación, así como el orden jerárquico en interpretación musical respecto al ritmo, melodía y armonía, respectivamente. Discusión: Según lo relevado en este estudio, el modelo se valida para todo nivel educativo, y, además, los paradigmas antiguos y modernos pueden convivir en vez de ser excluyentes. Conclusiones: Un modelo para la enseñanza de la música en general en el siglo XXI debe tener la suficiente flexibilidad para que cada docente lo utilice confiando en su experticia.</jats:p>4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Sitios Pro-ana y Pro-mia: Una aproximación reflexiva ante este fenómeno(2012) ;Cruzat Mandich, Claudia ;Haemmerli Delucchi, Constance ;Díaz Bugmann, Macarena ;Cristhian Pérez-villalobosGoffard Lackington, Jean Paul1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The Underlying Social Dynamics of Paradigm Shifts(2015); ;Diego Cosmelli ;Francisco Claro ;Miguel Angel FuentesFrederic AmblardScopus© Citations 4 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Complexity, selectivity and asymmetry in the conformation of the power phenomenon. Analysis of Chilean society(2015) ;Cárdenas, Juan Pablo ;Vidal, GerardoOlivares, Gastón1Scopus© Citations 5 - Some of the metrics are blocked by yourconsent settings
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Item type:Publication, EPISODIC NON-LINEARITIES AND MARKET EFFICIENCY IN THE MEXICAN STOCK MARKET(2011) ;CLAUDIO A. BONILLA ;Jose Rafael Romero, Md RomeroELIZABETH GUTIERREZ2Scopus© Citations 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Machine learning techniques for estimating seismic site amplification in the Santiago basin, Chile(2022) ;J.P. Díaz ;E. Sáez ;M. Monsalve; F. Aron2Scopus© Citations 16 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, In Pursuit of Impact: From Research Questions to Problem Formulation in Entrepreneurship Research(2022) ;Suwen Chen ;Garima Sharma<jats:p> In this paper, we address recent calls to increase the societal relevance of entrepreneurship research. We explore how entrepreneurship researchers and practitioners work together in the formulation of a research problem for impact. Leveraging process-tracing, we analyzed six entrepreneurship research projects, from early conceptualization to publication, all part of the Journal of Business Venturing Insights’ Entrepreneurship Rapid Response Research Initiative. We made two discoveries, as it pertains to the formulation of problems in entrepreneurship research. First, we found four critical change dimensions, along which a problem evolves throughout the research process: worthiness, divisibility, centrality, and specificity. Second, we found two equifinal problem formulation pathways in impact-oriented entrepreneurship research: inward-looking iterative and outward-looking joint problem formulation. These are marked by drivers of the research project, timing of involvement of the practitioner, and interactions between researchers and practitioners, which influence the sequence of the four change dimensions in problem formulation. Our study contributes by theorizing problem formulation as a process, not a point in time, and hence intertwined with solutions, making the process consequential. We also offer concrete implications for entrepreneurship scholars wanting to engage in research that impacts practice. </jats:p>Scopus© Citations 38 2
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