• 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 ...
• Patterns of physical activity progression in patients with COPD

  Koreny, Maria; Benet, Marta; Balcells Vilarnau, Eva, 1967-; García Aymerich, Judith; Urban Training™Study Group; PROactive Consortium members (Elsevier, 2020)

  Introduction: Although mean physical activity in COPD patients declines by 400-500steps/day annually, it is unknown whether the natural progression is the same for all patients. We aimed to identify distinct physical ...
• La inteligencia artificial y sus aplicaciones en medicina II: importancia actual y aplicaciones prácticas

  Ávila-Tomás, Jose Francisco; Mayer, Miguel Ángel, 1960-; Quesada-Varela, Victor Julio (Elsevier, 2020)

  La tecnología y la medicina siguen un camino paralelo durante las últimas décadas. Los avances tecnológicos van modificando el concepto de salud y las necesidades sanitarias están influyendo en el desarrollo de la tecnología. ...
• Mutation bias within oncogene families is related to proliferation-specific codon usage

  Benisty, Hannah, 1986-; Weber, Marc; Hernandez-Alias, Xavier; Schaefer, Martin H.; Serrano Pubull, Luis, 1982- (National Academy of Sciences, 2020)

  It is well known that in cancer gene families some members are more frequently mutated in tumor samples than their family counterparts. A paradigmatic case of this phenomenon is KRAS from the RAS family. Different explanations ...
• The changing chromatome as a driver of disease: a panoramic view from different methodologies

  Espejo, Isabel; Di Croce, Luciano; Aranda Aragón, Sergio (Wiley-VCH Verlag, 2020)

  Chromatin-bound proteins underlie several fundamental cellular functions, such as control of gene expression and the faithful transmission of genetic and epigenetic information. Components of the chromatin proteome (the ...
• ARIA digital anamorphosis: Digital transformation of health and care in airway diseases from research to practice

  Bousquet, Jean; Antó i Boqué, Josep Maria; Basagaña Flores, Xavier; Zidarn, Mihaela (Wiley-Blackwell, 2020)

  Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the ...
• A compendium answering 150 questions on COVID-19 and SARS-CoV-2

  Riggioni, Carmen; Antó i Boqué, Josep Maria; Akdis, Cezmi A. (Wiley, 2020)

  In December 2019, China reported the first cases of the coronavirus disease 2019 (COVID-19). This disease, caused by the severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2), has developed into a pandemic. ...
• Influence of anti-osteoporosis treatments on the incidence of COVID-19 in patients with non-inflammatory rheumatic conditions

  Blanch-Rubió, Josep; Soldevila-Domenech, Natalia; Tío, Laura; Llorente Onaindia, Jone; Ciria Recasens, Manuel; Polino, Luciano; Gurt, Alba; Torre Fornell, Rafael de la; Maldonado, Rafael, 1961-; Monfort, Jordi; The Covidmar Study Group (Impact Journals, 2020)

  Coronavirus disease 19 (COVID-19) is currently a global pandemic that affects patients with other pathologies. Here, we investigated the influence of treatments for osteoporosis and other non-inflammatory rheumatic conditions, ...
• Los retos actuales de la salud mental desde la Salud Pública y la Administración Sanitaria. Informe SESPAS 2020

  Mar, Javier; García Calvente, María del Mar; Cabasés, Juan; Puig Barrachina, Vanessa; Alonso Caballero, Jordi (Elsevier, 2020)
• ViceCT and whiceCT for simultaneous high-resolution visualization of craniofacial, brain and ventricular anatomy from micro-computed tomography

  Llambrich, Sergi; Wouters, Jens; Himmelreich, Uwe; Dierssen, Mara; Sharpe, James; Gsell, Willy; Martínez Abadías, Neus; Velde, Greetje Vande (Nature Research, 2020)

  Up to 40% of congenital diseases present disturbances of brain and craniofacial development resulting in simultaneous alterations of both systems. Currently, the best available method to preclinically visualize the brain ...

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