• RNA-binding proteins in human genetic disease

  Gebauer, Fátima; Schwarzl, Thomas; Valcárcel, J. (Juan); Hentze, Matthias W. (Nature Research, 2020)

  RNA-binding proteins (RBPs) are critical effectors of gene expression, and as such their malfunction underlies the origin of many diseases. RBPs can recognize hundreds of transcripts and form extensive regulatory networks ...
• Association between lung function decline and obstructive sleep apnoea: the ALEC study

  Emilsson, Össur Ingi; Sundbom, Fredrik; Ljunggren, Mirjam; Benediktsdottir, Bryndis; García Aymerich, Judith; Bui, Dinh Son; Jarvis, Deborah; Olin, Anna-Carin; Franklin, Karl; Demoly, Pascal; Lindberg, Eva; Janson, Christer; Aspelund, Thor; Gislason, Thorarinn (Springer, 2020)

  Purpose: To study changes in lung function among individuals with a risk of obstructive sleep apnoea (OSA), and if asthma affected this relationship. Methods: We used data from the European Community Respiratory Health ...
• Role of DNA methylation in the association of lung function with body mass index: a two-step epigenetic Mendelian randomisation study

  Amaral, André F.S.; Imboden, Medea; Wielscher, Matthias; Rezwan, Faisal I.; Minelli, Cosetta; García Aymerich, Judith; Peralta, Gabriela P.; Auvinen, Juha; Jeong, Ayoung; Schaffner, Emmanuel; Beckmeyer-Borowko, Anna B.; Holloway, John W.; Jarvelin, Marjo-Riitta; Probst-Hensch, Nicole; Jarvis, Deborah; ALEC consortium (BioMed Central, 2020)

  Background: Low lung function has been associated with increased body mass index (BMI). The aim of this study was to investigate whether the effect of BMI on lung function is mediated by DNA methylation. Methods: We used ...
• Parents' smoking onset before conception as related to body mass index and fat mass in adult offspring: Findings from the RHINESSA generation study

  Knudsen, Gerd Toril Mørkve; Dharmage, Shyamali C.; Janson, Christer; Abramson, Michael J.; Benediktsdóttir, Bryndís; Malinovschi, Andrei; Skulstad, Svein Magne; Bertelsen, Randi Jacobsen; Gómez Real, Francisco; Schlünssen, Vivi; Jõgi, Nils Oskar; Sánchez-Ramos, José Luis; Holm, Mathias; García Aymerich, Judith; Forsberg, Bertil; Svanes, Cecilie; Johannessen, Ane (Public Library of Science (PLoS), 2020)

  Emerging evidence suggests that parents' preconception exposures may influence offspring health. We aimed to investigate maternal and paternal smoking onset in specific time windows in relation to offspring body mass index ...
• Walking-related digital mobility outcomes as clinical trial endpoint measures: protocol for a scoping review

  Polhemus, Ashley Marie; Bosch de Basea i Gómez, Magda, 1982-; Delgado Ortiz, Laura; García Aymerich, Judith; Koch, Sarah; Frei, Anja (BMJ Publishing Group, 2020)

  Introduction: Advances in wearable sensor technology now enable frequent, objective monitoring of real-world walking. Walking-related digital mobility outcomes (DMOs), such as real-world walking speed, have the potential ...
• Physical activity and lung function-Cause or consequence?

  Bédard, Annabelle, 1986-; Carsin, Anne-Elie; Fuertes, Elaine; Accordini, Simone; Dharmage, Shyamali C.; Garcia Larsen, Vanessa; Heinrich, Joachim; Janson, Christer; Johannessen, Ane; Leynaert, Bénédicte; Sánchez-Ramos, José Luis; Peralta, Gabriela P.; Pin, Isabelle; Squillacioti, Giulia; Weyler, Joost; Jarvis, Deborah; García Aymerich, Judith (Public Library of Science (PLoS), 2020)

  Concerns exist that the positive association of physical activity with better lung function, which has been suggested in previous longitudinal studies in smokers, is due to reverse causation. To investigate this, we applied ...
• Toward a regulatory qualification of real-world mobility performance biomarkers in parkinson's patients using digital mobility outcomes

  Viceconti, Marco; Hernández Penna, Sabina; Dartee, Wilhelmus; Mazzà, Claudia; Caulfield, Brian; Becker, Clemens; Maetzler, Walter; García Aymerich, Judith; Davico, Giorgio; Rochester, Lynn (MDPI, 2020)

  Wearable inertial sensors can be used to monitor mobility in real-world settings over extended periods. Although these technologies are widely used in human movement research, they have not yet been qualified by drug ...
• Physical-activity trajectories during childhood and lung function at 15 years: findings from the ALSPAC cohort

  Roda, Célina; Mahmoud, Osama; Peralta, Gabriela P.; Fuertes, Elaine; Granell, Raquel; Serra, Ignasi; Henderson, John; Jarvis, Deborah; García Aymerich, Judith (Oxford University Press, 2020)

  Background: Although physical activity has many known health benefits, its association with lung function in childhood/adolescence remains unclear. We examined the association of physical-activity trajectories between 11 ...
• Causalidad y responsabilidad en salud laboral

  Benavides, Fernando G. (Fernando García) (Elsevier, 2020)

  El objetivo de este trabajo es revisar la relación imperfecta entre causalidad y responsabilidad, desde la mirada de la salud laboral. En este espacio académico y profesional se produce frecuentemente esta tensión al abordar ...
• Personality disorders in the ICD-11: spanish validation of the PiCD and the SASPD in a mixed community and clinical sample

  Gutiérrez, Fernando; Aluja, Antón; Ruiz, José; García, Luis F.; Gárriz, Miguel; Gutierrez-Zotes, Alfonso; Gallardo-Pujol, David; Navarro-Haro, Maria V.; Alabèrnia-Segura, Miquel; Mestre-Pintó, Juan Ignacio; Torrens, Marta; Peri, Josep M.; Sureda, Bárbara; Soler, Joaquim; Pascual, Juan C.; Vall, Gemma; Calvo, Natalia; Ferrer, Marc; Oltmanns, Joshua R.; Widiger, Thomas A. (SAGE Publications, 2020)

  The International Classification of Diseases-11th revision (ICD-11) classification of personality disorders is the official diagnostic system that is used all over the world, and it has recently been renewed. However, as ...
• Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)

  Kuebler, Bernd; Aran, Begoña; Flores Peirats, Raquel; Pérez Jurado, Luis Alberto; Veiga, Anna; Corominas, Roser; Cuscó Martí, Ivon, 1973- (Elsevier, 2020)

  Skin fibroblasts were obtained from four patients with Williams-Beuren syndrome (WBS) carrying the typical 1.5 Mb or 1.8 Mb deletion at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) were generated by ...
• Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome

  Kuebler, Bernd; Aran, Begoña; Flores Peirats, Raquel; Pérez Jurado, Luis Alberto; Veiga, Anna; Cuscó Martí, Ivon, 1973-; Corominas, Roser (Elsevier, 2020)

  Skin fibroblasts were obtained from four patients with 7q11.23 microduplication syndrome carrying the reciprocal rearrangement of Williams-Beuren syndrome at the 7q11.23 genomic region. Induced pluripotent stem cells (iPSCs) ...
• Adaptive selection drives TRPP3 loss-of-function in an Ethiopian population

  Walsh Capdevila, Sandra, 1991-; Izquierdo Serra, Mercè; Acosta, Sandra; Edo, Albert; Lloret, María; Moret, Roser; Bosch Fusté, Elena; Oliva Miguel, Baldomero; Bertranpetit, Jaume, 1952-; Fernández-Fernández, José Manuel, 1967- (Nature Research, 2020)

  TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. TRPP3 had been considered a candidate for sour sensor in humans, due to its high ...
• Missense variant contribution to USP9X-female syndrome

  Jolly, Lachlan A.; Pérez Jurado, Luis Alberto; Gecz, Jozef (Nature Research, 2020)

  USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial ...
• Smelling the dark proteome: functional characterization of PITH domain-containing protein 1 (C1orf128) in olfactory metabolism

  Lachén Montes, Mercedes; Mendizuri, Naroa; Ausín, Karina; Pérez Mediavilla, Alberto; Azkargorta, Mikel; Iloro, Ibon; Elortza, Félix; Kondo, Hiroyuki; Ohigashi, Izumi; Ferrer, Isidre; Torre Fornell, Rafael de la; Robledo, Patricia, 1958-; Fernández Irigoyen, Joaquín; Santamaría, Enrique (American Chemical Society (ACS), 2020)

  The Human Proteome Project (HPP) consortium aims to functionally characterize the dark proteome. On the basis of the relevance of olfaction in early neurodegeneration, we have analyzed the dark proteome using data mining ...
• Evaluating behavioral and linguistic changes during drug treatment for depression using tweets in spanish: pairwise comparison study

  Leis Machin, Angela; Ronzano, Francesco; Mayer Pujadas, Miguel Ángel; Furlong, Laura I., 1971-; Sanz, Ferran (JMIR Publications, 2020)

  Background: Depressive disorders are the most common mental illnesses, and they constitute the leading cause of disability worldwide. Selective serotonin reuptake inhibitors (SSRIs) are the most commonly prescribed drugs ...
• The Hsp40 Mas5 connects protein quality control and the general stress response through the thermo-sensitive Pyp1

  Boronat i Llop, Susanna, 1965-; Marte, Luis, 1990-; Vega, Montserrat; García Santamarina, Sarela, 1978-; Cabrera, Margarita; Ayté del Olmo, José; Hidalgo Hernando, Elena (Elsevier, 2020)

  Upon heat shock, the fission yeast Hsp40 chaperone Mas5 drives temperature-sensitive proteins toward protein aggregate centers (PACs) to avoid their degradation until lower temperatures favor their refolding. We show here ...
• Treatment of allergic rhinitis during and outside the pollen season using mobile technology. A MASK study

  Bédard, Annabelle, 1986-; Basagaña Flores, Xavier; Antó i Boqué, Josep Maria; García Aymerich, Judith; MASK study group (BioMed Central, 2020)

  Background: The analysis of mobile health (mHealth) data has generated innovative insights into improving allergic rhinitis control, but additive information is needed. A cross-sectional real-world observational study was ...
• COSMIN Risk of Bias tool to assess the quality of studies on reliability or measurement error of outcome measurement instruments: a Delphi study

  Mokkink, Lidwine B.; Boers, Maarten; van der Vleuten, C.P.M.; Bouter, Lex M.; Alonso Caballero, Jordi; Patrick, Donald L.; De Vet, Henrica C. W.; Terwee, Caroline B. (BioMed Central, 2020)

  Background: Scores on an outcome measurement instrument depend on the type and settings of the instrument used, how instructions are given to patients, how professionals administer and score the instrument, etc. The impact ...
• Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

  Souzeau, Emmanuelle; Siggs, Owen M.; Pasutto, Francesca; Knight, Lachlan S. W.; Pérez Jurado, Luis Alberto; McGregor, Lesley; Le Blanc, Shannon; Barnett, Christopher P.; Liebelt, Jan; Craig, Jamie E. (Wiley, 2020)

  Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences ...

View more