43569 research outputs found
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GENCODE 2025: reference gene annotation for human and mouse
No full textGENCODE produces comprehensive reference gene annotation for human and mouse. Entering its twentieth year, the project remains highly active as new technologies and methodologies allow us to catalog the genome at ever-increasing granularity. In particular, long-read transcriptome sequencing enables us to identify large numbers of missing transcripts and to substantially improve existing models, and our long non-coding RNA catalogs have undergone a dramatic expansion and reconfiguration as a result. Meanwhile, we are incorporating data from state-of-the-art proteomics and Ribo-seq experiments to fine-tune our annotation of translated sequences, while further insights into function can be gained from multi-genome alignments that grow richer as more species' genomes are sequenced. Such methodologies are combined into a fully integrated annotation workflow. However, the increasing complexity of our resources can present usability challenges, and we are resolving these with the creation of filtered genesets such as MANE Select and GENCODE Primary. The next challenge is to propagate annotations throughout multiple human and mouse genomes, as we enter the pangenome era. Our resources are freely available at our web portal www.gencodegenes.org, and via the Ensembl and UCSC genome browsers
TNF induces catabolism in human cartilaginous endplate cells in 3D agarose culture under dynamic compression
No full textIntervertebral disc (IVD) degeneration is the leading cause of low back pain in young adults, and the cartilaginous endplate (CEP) is likely to play a key role in early IVD degeneration. To elucidate the effects of pro-inflammatory cytokines on the mechanobiology of the CEP, human CEP cells were seeded into 2% agarose, dynamically compressed up to 7%, and stimulated with tumor necrosis factor (TNF). It was hypothesized that dynamic compression would be sufficient to induce anabolism, while stimulation with TNF would induce catabolism. TNF was sufficient to induce a catabolic, time-dependent response in human CEP cells through downregulation of anabolic gene expression and increased secretion of pro-inflammatory proteins associated with herniated discs, bacteria inhibition, and pain. However, 7% strain or scaffold material, agarose, may not lead to full activation of integrins and downregulation of pro-inflammatory pathways, demonstrated in part through the unchanged gene expression of integrin subunits α5 and β1
Lessons from Catalonia: advancing sexual and reproductive rights through feminist policymaking and governance
No full textAs sexual and reproductive rights (SRR) face mounting threats globally, Catalonia’s National Strategy for Sexual and Reproductive Rights showcases how democratic governments can expand SRR through feminist policymaking and governance. Building on the region’s robust public health infrastructure, systemic inequalities have been addressed and care standards improved with innovative policies. Grounded in intersectional feminism and a rights-based approach that prioritises bodily autonomy, universality, accessibility and participation, SRR have been embedded not only into health policies but also into education, workplaces and community frameworks. Key lessons from this experience highlight the importance of feminist expertise and leadership in driving impactful change. Framing SRR as human rights broadens their scope and facilitates collaboration across cabinet portfolios, while institutionalising policies within extant frameworks and services seeks to ensure their sustainability beyond political cycles. Furthermore, transformative SRR policies need not be cost-prohibitive; redesigning public services and training health professionals to deliver empathetic care can also yield significant results. Public engagement and participatory policymaking empower citizens and stakeholders, fostering accountability and a culture of advocacy. Catalonia’s bold and inclusive model, coupled with robust responses to the anti-gender movement, offers a blueprint for governments and advocacy organisations worldwide
Building a second home: how the pakistani community in Barcelona uses media to foster connection and belonging
No full textTreball de fi de màster Estudis Internacionals sobre Mitjans, Poder i DiversitatSupervisor: Carles Roca-CuberesThis study examines how Pakistani migrants in Barcelona create a sense of belonging through everyday media practices, addressing research gaps in Southern European migration. Drawing on theoretical frameworks from Brah, Georgiou, and Anderson, and supplemented by interviews from ten participants, the study reveals that Pakistani migrants participate in strategic selective engagement, preserving homeland ties via Urdu media and WhatsApp family groups and simultaneously integrating into Spanish digital environments. Results show that the length of settlement increases rather than decreases transnational citizenship. The study reveals mostly individualized rather than communal digital habits, thereby promoting local integration and personal identity negotiation. The study reveals a unique "Mediterranean model" of integration marked by pragmatic tolerance and extends theories of mediated transnationalism and imagined communities to digital diaspora contexts, therefore contributing to
communication studies and overall migration and diaspora studies
De la pista a Instagram : anàlisi de la construcció de la marca personal dels jugadors de bàsquet professional a Instagram: una corporativa entre l'ACB i la NBA
No full textTutor: Josep Fernández CaviaTreball de fi de grau en Publicitat i Relacions PúbliquesEl bàsquet professional ja no és només el que passa a la pista; Instagram i les xarxes socials juguen un paper cada vegada més important en la construcció de la marca personal dels jugadors en un entorn cada cop més competitiu i globalitzat. Aquest Treball de fi de grau explora, mitjançant una anàlisi de contingut, una enquesta i una entrevista, com els jugadors professionals de bàsquet gestionen la seva marca personal a Instagram, comparant les estratègies comunicatives dels jugadors de la Liga ACB i de l’NBA, així com les diferències culturals, esportives i en la percepció del públic.Professional basketball is no longer just about what happens on the court; Instagram and social media are playing an increasingly significant role in helping players build their personal brands in a world that is becoming more competitive and globalized. This final degree project investigates how professional basketball players manage their personal brand on Instagram through content analysis, a survey, and an interview, comparing the communication strategies of players in the Liga ACB and the NBA, as well as the cultural, athletic, and public perception differences
Exploring the gender paradox of chinese male beauty influencers and masculinity
No full textTreball de fi de màster Estudis Internacionals sobre Mitjans, Poder i DiversitatSupervisor: Pilar Medina-BravoThis theoretical dissertation analyzes the paradoxical and multidimensional position of Chinese male beauty influencers in the challenging of traditional masculinity. Against the background of converging forces of national ideology, traditional culture, cyberspace, market and capital, the study explores how such influencers both challenge and perpetuate masculine norms in the highly regulated Chinese media environments. Through theoretical analysis, the research finds that while male beauty influencers use makeup, language and aesthetics to perform masculinity outside its boundaries, their performances tend to be shaped by consumerist forces and political constraints
Genetic determinants orchestrating transcriptome regulation: nonsense-mediated mRNA decay and allele-specific expression variability in phenotypic diversity
No full textEsta tesis explora la variabilidad de la eficiencia de la degradación del ARN mensajero mediada por mutación terminadora (NMD) y el papel de la expresión específica de alelos (ASE) en la influencia de la variación fenotípica y la progresión de enfermedades, particularmente en el cáncer. A través de análisis exhaustivos de exomas y transcriptomas de tumores y tejidos sanos, cuantificamos la eficiencia de NMD a nivel individual, revelando una variabilidad intertisular e interindividual sustancial explicada parcialmente por alteraciones del número de copias somáticas y variantes de la línea germinal con pérdida de función. Estos hallazgos subrayan el potencial de la eficiencia de NMD como un biomarcador predictivo para las estrategias de tratamiento del cáncer que involucran inmunoterapia y/o inhibición de NMD. Además, investigamos ASE en la tumorigénesis, demostrando que los desequilibrios alélicos que favorecen las mutaciones patogénicas en los ARN mensajeros están sujetos a selección positiva, contribuyendo a la evolución del cáncer y afectando negativamente el pronóstico. Identificamos mecanismos no provocados por CNAs, como cambios epigenéticos y alteraciones de splicing, que promueven la expresión de alelos mutantes en genes drivers. Los estudios de NMD y ASE no solo aclaran aspectos de la evolución y el pronóstico del cáncer, sino que también destaca su potencial como objetivos terapéuticos dentro de la medicina personalizada, lo que sugiere nuevas vías para la intervención farmacológica en el cáncer.This thesis explores the variability of nonsense-mediated mRNA decay (NMD) efficiency and the role of allele-specific expression (ASE) in influencing phenotypic variation and disease progression, particularly in cancer. Through extensive analyses of exomes and transcriptomes from both tumors and healthy tissues, we quantified individual-level NMD efficiency, revealing substantial inter-tissue and inter-individual variability partially driven by somatic copy number alterations and loss-of-function germline variants. These findings underscore the potential of NMD efficiency as a predictive biomarker for cancer treatment strategies involving immunotherapy and/or NMD inhibition. Furthermore, we investigated ASE in tumorigenesis, demonstrating that allelic imbalances favoring pathogenic mutations in mRNAs are subject to positive selection, contributing to cancer evolution and adversely affecting prognosis. We identified non-CNA mechanisms, such as epigenetic changes and splicing alterations, that promote the expression of mutant alleles in driver genes. The study of NMD and ASE not only elucidates aspects of cancer evolution and prognosis but also highlights their potential as therapeutic targets within personalized medicine, suggesting new avenues for pharmacological intervention in cancer.Programa de Doctorat en Biomedicin
The UN's sustainable development goal 17(.2) in the United States of America: the future of foreign aid under and following the Trump administration
No full textBachelor's degree in Global Studies. Curs 2024-2025Tutor: Stephen JacobsenThis dissertation critically explores the complex dynamics of foreign aid, integrating theoretical frameworks such as dependency theory and globalisation studies to illuminate historical and contemporary issues. It addresses the inherent tensions between developmental objectives and geopolitical strategies, critiques of Western development models, and the emerging discourse on decolonising aid practices. A significant focus is placed on the role of key actors in the development landscape, particularly China, whose growing influence poses a challenge to traditional Western approaches through initiatives like the 'New Silk Road`.
The analysis is grounded in Sustainable Development Goal (SDG) 17, and target 17.2, assessing US performance on relevant indicators and the broader trend of declining multilateral commitments. The evolution of US foreign aid policies is traced across different administrations, highlighting the dismantling of USAID during Trump's second term and its implications for both international development and US global influence. The thesis presents five potential scenarios for the future of US foreign aid, ranging from a restoration of USAID to a complete withdrawal from international development efforts. Each scenario is evaluated for its strategic feasibility and implications for global development. Ultimately, it argues that for the US, the most beneficial scenario is one restoring leadership in global development
through reinstating and reforming aid frameworks to align with SDG 17.2 targets while countering China's influence, advocating for reforms that align aid frameworks with the realities of a multipolar world while prioritising equity, collaboration, and sustainability in global development efforts
Urban heat in global cities and the role of nature-based solutions in mitigating future climate risks
No full textApproximately eight billion people are living on Earth today with more than half (55%, ∼4.2 billion) living in cities—a proportion predicted to increase to 70% (∼6.6. billion) by 2050. As the human population grows, urban residents will face increasingly extreme temperatures under future climate change, which will affect human well-being, health, and mortality. However, nature-based solutions offer promising strategies to mitigate these impacts. Here, we analyst future projections of the maximum temperature of the warmest month, as a proxy for extreme heat exposure across 5646 cities in 218 countries. We show that by mid-century, this climate metric is projected to increase by an average of +1.7 °C (± 0.5 °C), with the largest increases (∼4 °C) projected to occur in mid-to-high latitude cities of Europe, North America, and Australia. We highlight the urgent need to adopt nature-based solutions to mitigate projected increases in urban heat and contribute to net-zero CO2 emissions goals
Filmar las palabras
No full textEl presente trabajo de investigación se propone analizar los modos en que el cine ha llevado a cabo el acto de filmar los textos literarios. En oposición a la tendencia convencional en los estudios filmoliterarios que entiende el paso de una obra literaria al cine como un proceso de adaptación, es decir, de traducción de unos ciertos sentidos producidos los materiales propios para ser reproducidos mediante los del otro, filmar un texto supone una restauración de la especificidad literaria de la palabra en pantalla al mismo tiempo que un cuestionamiento de las relaciones entre la palabra y la imagen.This thesis aims to analyze the ways in which cinema has carried out the act of filming literary texts. In opposition to the conventional trend in Film and Literature Studies that understands the passage from a literary work to the cinema as a process of adaptation – that is, of translation of certain meanings produced by one medium's own materials to be reproduced through those of the other – filming a text involves a restoration of the literary specificity of the word on the screen as well as a questioning of the relationship between word and image.Programa de doctorat en Comunicaci