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Genomic modifiers of neurological resilience in a Niemann‐Pick C family
(Wiley, 2025-06-12)
Macarena Las Heras
;
Benjamín Szenfeld
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Valeria Olguín
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Juan Carlos Rubilar
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CALDERON GIADROSIC, JUAN FRANCISCO
Niemann-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
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Entrepreneurial identity construction among communitarians: unravelling the psychological mechanisms
(Emerald, 2025-02-07)
POBLETE CAZENAVE, CARLOS ABEL
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Cristina Acuña
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MAHN BORKOWSKY, DANIEL
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Felipe Rifo
<jats:sec><jats:title content-type="abstract-subheading">Purpose</jats:title><jats:p>Nurturing the social identity approach, encompassing social identity theory and self-categorisation theory, this study aims to unravel the process of entrepreneurial identity construction among communitarians. It seeks to uncover the psychological mechanisms through which entrepreneurs categorise themselves as communitarians, highlighting the importance of community salience, trust and engagement.</jats:p></jats:sec><jats:sec><jats:title content-type="abstract-subheading">Design/methodology/approach</jats:title><jats:p>This quantitative study comprises a sample consisting of 253 entrepreneurs. This research presents a sequential mediation model, drawing on salience, trust and engagement as antecedents of social entrepreneurial identity. By analysing the step-by-step mediation process, the research offers a nuanced understanding of how these community dynamics contribute to shaping entrepreneurial identity.</jats:p></jats:sec><jats:sec><jats:title content-type="abstract-subheading">Findings</jats:title><jats:p>Entrepreneurs deeply connected to their communities do not naturally identify as communitarians; rather, it is the trust they build and the engagement they foster that shape their entrepreneurial identity. Communal bonds are not merely a backdrop for entrepreneurship but a driving force that moulds identity and action. This study evidenced that the salience of community positively influences community trust and engagement, which, in turn, enhances the development of entrepreneurial identity as communitarians. This underscores the role of social dynamics in shaping entrepreneurial attitudes, beliefs and behaviours.</jats:p></jats:sec><jats:sec><jats:title content-type="abstract-subheading">Originality/value</jats:title><jats:p>This research confers a deeper understanding of how entrepreneurs construct and enact their identities, shedding light on the dynamic interplay between social context, shaping attitudes, cognition and behaviours. Exploring entrepreneurial identity among communitarians offers new insights into how social dynamics shape entrepreneurial actions. The study’s value extends to practical applications, offering guidance for policymakers and community leaders in fostering supportive environments that enhance entrepreneurship through greater community engagement and trust.</jats:p></jats:sec>
8Scopus© Citations 7
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Catheter-associated bloodstream infection caused by Leifsonia aquatica in a haemodialysis patient: a case report
(2012)
Lorena Porte
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Andrés Soto
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Daniela Andrighetti
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Jeannette Dabanch
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Stephanie Braun
Scopus© Citations 16 3
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Analysis of FGF-Dependent and FGF-Independent Pathways in Otic Placode Induction
(2013)
Lu Yang
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Paul O’Neill
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Kareen Martin
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Juan C. Maass
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Vassil Vassilev
Scopus© Citations 34 1
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Molecular typing of Giardia duodenalis isolates from German travellers
(2013)
A. Broglia
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WEITZEL, THOMAS
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G. Harms
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S. M. Cacció
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K. Nöckler
4Scopus© Citations 60
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Intergroup Relations in Latin America: Intergroup Contact, Common Ingroup Identity, and Activism among Indigenous Groups in Mexico and Chile
(2016)
Huseyin Çakal
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Anja Eller
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David Sirlopú
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Andrés Pérez
2Scopus© Citations 27
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Development of a New Genus-Specific Quantitative Real-Time PCR Assay for the Diagnosis of Scrub Typhus in South America
(2022)
Ju Jiang
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Constanza Martínez-Valdebenito
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WEITZEL, THOMAS
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Christina M. Farris
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Gerardo Acosta-Jamett
<jats:p>Scrub typhus is a potentially severe rickettsiosis, caused by <jats:italic>Orientia tsutsugamushi</jats:italic> in the Asia-Pacific region. Recently, however, two distinct pathogens, “<jats:italic>Candidatus</jats:italic> Orientia chuto” and “<jats:italic>Candidatus</jats:italic> Orientia chiloensis”, have been discovered in the Middle East and South America, respectively. Since the novel pathogens differ significantly from <jats:italic>O. tsutsugamushi</jats:italic>, many established diagnostic methods are unreliable. This work describes the development and validation of a new quantitative real-time PCR (qPCR) assay (Orien16S) for the detection of all known <jats:italic>Orientia</jats:italic> species. Based on a 94 bp sequence of the 16S rRNA gene (<jats:italic>rrs</jats:italic>), Orien16S recognized DNA samples from <jats:italic>O. tsutsugamushi</jats:italic> (<jats:italic>n</jats:italic> = 41), <jats:italic>Ca.</jats:italic> O. chiloensis (<jats:italic>n</jats:italic> = 5), and <jats:italic>Ca.</jats:italic> O. chuto (<jats:italic>n</jats:italic> = 1), but was negative for DNA preparations from closely related rickettsiae and other members of the order Rickettsiales (<jats:italic>n</jats:italic> = 22) as well as unrelated bacterial species (<jats:italic>n</jats:italic> = 11). After its implementation in Chile, the assay was verified, correctly identifying all tested eschar and buffy coat samples (<jats:italic>n</jats:italic> = 28) of clinical suspected cases. Furthermore, Orien16S detected <jats:italic>Orientia</jats:italic> DNA in trombiculid mites collected in endemic regions in southern Chile. The presented novel qPCR assay provides a useful tool for detecting <jats:italic>Orientia</jats:italic> and diagnosing scrub typhus from all geographical regions.</jats:p>
1Scopus© Citations 14 1
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Concordance Analysis of ALK Gene Fusion Detection Methods in Patients with Non–Small-Cell Lung Cancer from Chile, Brazil, and Peru
(2021)
Gonzalo Sepúlveda-Hermosilla
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Matías Freire
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Alejandro Blanco
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Javier Cáceres
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Rodrigo Lizana
1Scopus© Citations 6
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Transferable Vancomycin Resistance in a Community-Associated MRSA Lineage
(2014)
Flávia Rossi
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Lorena Diaz
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Aye Wollam
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Diana Panesso
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Yanjiao Zhou
11 1Scopus© Citations 153
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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa
(2018)
Raymond J. Cho
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Ludmil B. Alexandrov
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Nicoline Y. den Breems
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Velina S. Atanasova
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Mehdi Farshchian
<jats:p>Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.</jats:p>
5Scopus© Citations 100

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