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Institution

Pompeu Fabra University

EducationBarcelona, Spain
About: Pompeu Fabra University is a education organization based out in Barcelona, Spain. It is known for research contribution in the topics: Population & Gene. The organization has 8093 authors who have published 23570 publications receiving 858431 citations. The organization is also known as: Universitat Pompeu Fabra & UPF.


Papers
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Journal ArticleDOI
TL;DR: It is found that the response to death is largely tissue-specific and a model to predict time since death based on RNA data is developed, which is developed from the analysis of the transcriptome of a few readily accessible tissues.
Abstract: Post-mortem tissues samples are a key resource for investigating patterns of gene expression. However, the processes triggered by death and the post-mortem interval (PMI) can significantly alter physiologically normal RNA levels. We investigate the impact of PMI on gene expression using data from multiple tissues of post-mortem donors obtained from the GTEx project. We find that many genes change expression over relatively short PMIs in a tissue-specific manner, but this potentially confounding effect in a biological analysis can be minimized by taking into account appropriate covariates. By comparing ante- and post-mortem blood samples, we identify the cascade of transcriptional events triggered by death of the organism. These events do not appear to simply reflect stochastic variation resulting from mRNA degradation, but active and ongoing regulation of transcription. Finally, we develop a model to predict the time since death from the analysis of the transcriptome of a few readily accessible tissues.

185 citations

Journal ArticleDOI
TL;DR: Zinc finger repression was tested at several levels, resulting in protein aggregate reduction, reduced decline in rotarod performance, and alleviation of clasping in R6/2 mice, establishing a proof-of-principle for synthetic transcription factor repressors in the brain.
Abstract: Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by expanded CAG repeats in the huntingtin (HTT) gene. Although several palliative treatments are available, there is currently no cure and patients generally die 10–15 y after diagnosis. Several promising approaches for HD therapy are currently in development, including RNAi and antisense analogs. We developed a complementary strategy to test repression of mutant HTT with zinc finger proteins (ZFPs) in an HD model. We tested a “molecular tape measure” approach, using long artificial ZFP chains, designed to bind longer CAG repeats more strongly than shorter repeats. After optimization, stable ZFP expression in a model HD cell line reduced chromosomal expression of the mutant gene at both the protein and mRNA levels (95% and 78% reduction, respectively). This was achieved chromosomally in the context of endogenous mouse HTT genes, with variable CAG-repeat lengths. Shorter wild-type alleles, other genomic CAG-repeat genes, and neighboring genes were unaffected. In vivo, striatal adeno-associated virus viral delivery in R6/2 mice was efficient and revealed dose-dependent repression of mutant HTT in the brain (up to 60%). Furthermore, zinc finger repression was tested at several levels, resulting in protein aggregate reduction, reduced decline in rotarod performance, and alleviation of clasping in R6/2 mice, establishing a proof-of-principle for synthetic transcription factor repressors in the brain.

185 citations

Journal ArticleDOI
TL;DR: This work links CTC to the concept of metastability, which refers to a rich exploration of the functional repertoire made possible by the underlying structural whole-brain connectivity, which is a fundamental brain mechanism for large-scale, distant communication.

185 citations

Journal ArticleDOI
TL;DR: Future research should develop methods to evaluate the effects of the DBP mixture and the interaction with personal characteristics, clarify the association between swimming pools and respiratory health, evaluate the occurrence of DBPs in low- and middle-income countries, and evaluate outcomes suggested by animal studies that have not been considered in epidemiological investigations.
Abstract: The presence of chemical compounds formed as disinfection by-products (DBPs) is widespread in developed countries, and virtually whole populations are exposed to these chemicals through ingestion, inhalation, or dermal absorption from drinking water and swimming pools. Epidemiological evidence has shown a consistent association between long-term exposure to trihalomethanes and the risk of bladder cancer, although the causal nature of the association is not conclusive. Evidence concerning other cancer sites is insufficient or mixed. Numerous studies have evaluated reproductive implications, including sperm quality, time to pregnancy, menstrual cycle, and pregnancy outcomes such as fetal loss, fetal growth, preterm delivery, and congenital malformation. The body of evidence suggests only minor effects from high exposure during pregnancy on fetal growth indices such as small for gestational age (SGA) at birth. Populations highly exposed to swimming pools such as pool workers and professional swimmers show a higher prevalence of respiratory symptoms and asthma, respectively, although the direction of the association, and thus causality, is not clear among professional swimmers. The risk of asthma, wheezing, eczema, and other respiratory outcomes among children attending swimming pools has been the object of extensive research. Early studies suggested a positive association, while subsequent larger studies found no correlations or showed a protective association. Future research should develop methods to evaluate the effects of the DBP mixture and the interaction with personal characteristics (e.g., genetics, lifestyle), clarify the association between swimming pools and respiratory health, evaluate the occurrence of DBPs in low- and middle-income countries, and evaluate outcomes suggested by animal studies that have not been considered in epidemiological investigations.

185 citations

Journal ArticleDOI
Miia Kivipelto, Francesca Mangialasche1, Francesca Mangialasche2, Heather M. Snyder3, Ricardo F. Allegri, Sandrine Andrieu4, Hidenori Arai, Laura D. Baker5, Sylvie Belleville6, Henry Brodaty7, Sonia Maria Dozzi Brucki8, Ismael Calandri, Paulo Caramelli9, Christopher C. Chen10, Howard Chertkow11, Effie Chew, Seong Hye Choi12, Neerja Chowdhary13, Lucia Crivelli, Rafael de la Torre14, Yifeng Du15, Tarun Dua13, Mark A. Espeland5, Howard Feldman16, Howard Feldman17, Maris Hartmanis2, Tobias Hartmann18, Megan Heffernan7, Christiani Jeyakumar Henry10, Chang H. Hong19, Krister Håkansson2, Takeshi Iwatsubo20, Jee H. Jeong21, Gustavo Jimenez-Maggiora22, Edward H. Koo10, Lenore J. Launer23, Jenni Lehtisalo24, Jenni Lehtisalo25, Francisco Lopera26, Pablo Martinez-Lage, Ralph N. Martins27, Ralph N. Martins28, Lefkos T. Middleton29, Jose Luis Molinuevo, Manuel Montero-Odasso30, So Y. Moon19, Kristal Morales-Perez2, Ricardo Nitrini8, Haakon B. Nygaard16, Yoo K. Park31, Markku Peltonen24, Markku Peltonen2, Chengxuan Qiu1, Chengxuan Qiu15, Yakeel T. Quiroz32, Yakeel T. Quiroz26, Rema Raman22, Naren P. Rao33, Vijayalakshmi Ravindranath34, Anna Rosenberg25, Takashi Sakurai, Rosa M. Salinas, Philip Scheltens35, Gustavo Sevlever, Hilkka Soininen25, Ana Luisa Sosa, Claudia K. Suemoto8, Mikel Tainta-Cuezva, Lina Velilla26, Yongxiang Wang15, Rachel A. Whitmer36, Xin Xu10, Lisa J. Bain, Alina Solomon2, Alina Solomon25, Tiia Ngandu24, Tiia Ngandu2, Maria C. Carrillo3 
TL;DR: The WW‐FINGERS aims to harmonize and adapt multidomain interventions across various countries and settings, to facilitate data sharing and analysis across studies, and to promote international joint initiatives to identify globally implementable and effective preventive strategies.
Abstract: Reducing the risk of dementia can halt the worldwide increase of affected people. The multifactorial and heterogeneous nature of late-onset dementia, including Alzheimer's disease (AD), indicates a potential impact of multidomain lifestyle interventions on risk reduction. The positive results of the landmark multidomain Finnish Geriatric Intervention Study to Prevent Cognitive Impairment and Disability (FINGER) support such an approach. The World-Wide FINGERS (WW-FINGERS), launched in 2017 and including over 25 countries, is the first global network of multidomain lifestyle intervention trials for dementia risk reduction and prevention. WW-FINGERS aims to adapt, test, and optimize the FINGER model to reduce risk across the spectrum of cognitive decline-from at-risk asymptomatic states to early symptomatic stages-in different geographical, cultural, and economic settings. WW-FINGERS aims to harmonize and adapt multidomain interventions across various countries and settings, to facilitate data sharing and analysis across studies, and to promote international joint initiatives to identify globally implementable and effective preventive strategies.

185 citations


Authors

Showing all 8248 results

NameH-indexPapersCitations
Andrei Shleifer171514271880
Paul Elliott153773103839
Bert Brunekreef12480681938
Philippe Aghion12250773438
Anjana Rao11833761395
Jordi Sunyer11579857211
Kenneth J. Arrow113411111221
Xavier Estivill11067359568
Roderic Guigó108304106914
Mark J. Nieuwenhuijsen10764749080
Jordi Alonso10752364058
Alfonso Valencia10654255192
Luis Serrano10545242515
Vadim N. Gladyshev10249034148
Josep M. Antó10049338663
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
202349
2022248
20211,903
20201,930
20191,763
20181,660