• Civilians in World War II and DSM-IV mental disorders: results from the World Mental Health Survey Initiative

  Frounfelker, Rochelle; Gilman, Stephen E.; Betancourt, Theresa S.; Aguilar Gaxiola, Sergio; Alonso Caballero, Jordi; Bromet, Evelyn J.; Bruffaerts, Ronny; De Girolamo, Giovanni; Gluzman, Semyon; Gureje, Oye; Karam, Elie G.; Lee, Sing; Lépine, Jean-Pierre; Ono, Yutaka; Pennell, Beth-Ellen; Popovici, Daniela G.; ten Have, Margreet; Kessler, Ronald C.; WHO World Mental Health Survey Collaborators (Springer, 2018)

  PURPOSE: Understanding the effects of war on mental disorders is important for developing effective post-conflict recovery policies and programs. The current study uses cross-sectional, retrospectively reported data collected ...
• Prevalence of asthma-like symptoms with ageing

  Jarvis, Debbie; Antó i Boqué, Josep Maria; Zock, Jan-Paul; Burney, Peter (BMJ Publishing Group, 2016)

  BACKGROUND: Change in the prevalence of asthma-like symptoms in populations of ageing adults is likely to be influenced by smoking, asthma treatment and atopy. METHODS: The European Community Respiratory Health Survey ...
• Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

  Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)

  Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it ...
• How cells respond to environmental cues - insights from bio-functionalized substrates

  Ruprecht, Verena; Monzo, Pascale; Ravasio, Andrea; Yue, Zhang; Makhija, Ekta; Strale, Pierre Olivier; Gauthier, Nils; Shivashankar, G. V.; Studer, Vincent; Albiges-Rizo, Corinne; Viasnoff, Virgile (Company of Biologists, 2017)

  Biomimetic materials have long been the (he)art of bioengineering. They usually aim at mimicking in vivo conditions to allow in vitro culture, differentiation and expansion of cells. The past decade has witnessed a ...
• Prognostic impact of CD133 expression in Endometrial Cancer Patients

  Mancebo Moreno, Gemma; Sole-Sedeno, J.M.; Pino, O.; Miralpeix, E.; Mojal, Sergio; Garrigos, L.; Lloveras Rubio, Belen; Navarro Medrano, Pilar; Gibert, Joan; Lorenzo Perez, Marta; Aran, Iris; Carreras Collado, Ramón; Alameda Quitllet, Fransesc (Nature Publishing Group, 2017)

  To assess the impact of CD133 expression on the prognosis of endometrioid endometrial carcinoma (EEC). We retrospectively assessed CD133 expression in tissue microarray of 116 surgically treated FIGO I-III EEC. Tumors with ...
• Recent positive selection has acted on genes encoding proteins with more interactions within the whole human interactome

  Luisi, Pierre, 1985-; Alvarez-Ponce, David; Pybus Oliveras, Marc, 1985-; Fares, Mario A.; Bertranpetit, Jaume, 1952-; Laayouni, Hafid, 1968- (Oxford University Press, 2015)

  Genes vary in their likelihood to undergo adaptive evolution. The genomic factors that determine adaptability, however, remain poorly understood. Genes function in the context of molecular networks, with some occupying ...
• TRIM28 and Interacting KRAB-ZNFs control self-renewal of human pluripotent stem cells through epigenetic repression of pro-differentiation genes

  Oleksiewicz, Urszula; Gładych, Marta; Raman, Ayush T.; Heyn, Holger; Mereu, Elisabetta; Chlebanowska, Paula; Andrzejewska, Anastazja; Sozańska, Barbara; Samant, Neha; Fąk, Katarzyna; Auguścik, Paulina; Kosiński, Marcin; Wróblewska, Joanna P.; Tomczak, Katarzyna; Kulcenty, Katarzyna; Płoski, Rafał; Biecek, Przemysław; Esteller, Manel; Shah, Parantu K.; Rai, Kunal; Wiznerowicz, Maciej (Elsevier, 2017)

  Reprogramming to induced pluripotent stem cells (iPSCs) and differentiation of pluripotent stem cells (PSCs) are regulated by epigenetic machinery. Tripartite motif protein 28 (TRIM28), a universal mediator of Krüppel-associated ...
• Rational design of non-resistant targeted cancer therapies

  Martínez-Jiménez, Francisco, 1988-; Overington, John P.; Al-Lazikani, Bissan; Martí Renom, Marc A. (Nature Publishing Group, 2017)

  Drug resistance is one of the major problems in targeted cancer therapy. A major cause of resistance is changes in the amino acids that form the drug-target binding site. Despite of the numerous efforts made to individually ...
• Simple and complex retinal dystrophies are associated with profoundly different disease networks

  Kiel, Christina; Lastrucci, Claire; Luthert, Philip J.; Serrano Pubull, Luis, 1982- (Nature Publishing Group, 2017)

  Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such ...
• New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease

  Gómez Grau, Marta; Albaigès, Júlia; Casas, Josefina; Auladell, Carme; Dierssen, Mara; Vilageliu, Lluïsa; Grinberg, Daniel (Nature Publishing Group, 2017)

  Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol ...
• A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes

  Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)

  Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
• Serum cytokine profiles as predictors of asthma control in adults from the EGEA study

  Akiki, Zeina; Rava, Marta; Díaz Gil, Oscar; Pin, Isabelle; Moual, Nicole Le; Siroux, Valérie; Guerra, Stefano; Chamat, Soulaima; Matran, Regis; Fitó Colomer, Montserrat; Salameh, Pascale; Nadif, Rachel (Elsevier, 2017)

  BACKGROUND: To which extent serum cytokines may predict asthma control in adults remains understudied. OBJECTIVES: We investigated cross-sectional and longitudinal associations between cytokine profiles and asthma outcomes. ...
• Whole-exome sequencing of congenital glaucoma patients reveals hypermorphic variants in GPATCH3, a new gene involved in ocular and craniofacial development

  Ferré Fernández, Jesús José; Aroca Aguilar, José Daniel; Medina Trillo, Cristina; Bonet Fernández, Juan Manuel; Méndez Hernández, Carmen Dora; Morales Fernández, Laura; Cortón, Marta; Cabañero Valera, María José; Gut, Marta; Tonda, Raúl; Ayuso, Carmen; Coca Prados, Miguel; García Feijóo, Julián; Escribano, Julio (Nature Publishing Group, 2017)

  Congenital glaucoma (CG) is a heterogeneous, inherited and severe optical neuropathy that originates from maldevelopment of the anterior segment of the eye. To identify new disease genes, we performed whole-exome sequencing ...
• A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

  Li, Dong; Chang, Xiao; Connolly, John J.M.; Tian, Lifeng; Liu, Yichuan; Bhoj, Elizabeth J.; Robinson, Nora; Abrams, Debra J.; Li, Yun Rose; Bradfield, Jonathan P.; Kim, Cecilia E.; Li, Jin; Wang, Fengxiang; Snyder, James; Lemma, Maria; Hou, Cuiping; Wei, Zhi; Guo, Yiran; Qiu, Haijun; Mentch, Frank D.; Thomas, Kelly A.; Chiavacci, Rosetta M.; Cone, Roger D.; Li, Bingshan; Sleiman, Patrick M.A.; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Price Foundation Collaborative Group; Hakonarson, Hakon (Nature Publishing Group, 2017)

  We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that ...
• Promoter activity buffering reduces the fitness cost of misregulation

  Schikora Tamarit, Miquel Àngel; López-Grado i Salinas, Guillem; González Navasa, Carolina; Calderón, Irene; Marcos Fa, Xavi; Sas, Miquel; Carey, Lucas (Elsevier, 2018)

  Organisms regulate gene expression through changes in the activity of transcription factors (TFs). In yeast, the response of genes to changes in TF activity is generally assumed to be encoded in the promoter. To directly ...
• Recent radiation of R-M269 and high Y-STR haplotype resemblance confirmed

  Solé Morata, Neus, 1988-; Bertranpetit, Jaume, 1952-; Comas, David, 1969-; Calafell i Majó, Francesc (Wiley, 2014)
• Image formation by linear and nonlinear digital scanned light-sheet fluorescence microscopy with Gaussian and Bessel beam profiles

  Olarte, Omar E.; Licea-Rodriguez, Jacob; Palero, Jonathan A.; Gualda, Emilio J.; Artigas, David; Mayer, Jürgen, 1977-; Swoger, Jim; Sharpe, James; Rocha-Mendoza, Israel; Rangel-Rojo, Raul; Loza-Alvarez, Pablo (Optical Society of America (OSA), 2012)

  We present the implementation of a combined digital scanned light-sheet microscope (DSLM) able to work in the linear and nonlinear regimes under either Gaussian or Bessel beam excitation schemes. A complete characterization ...
• Quantitative measurements in 3-dimensional datasets of mouse lymph nodes resolve organ-wide functional dependencies

  Mayer, Jürgen, 1977-; Swoger, Jim; Ozga, Aleksandra J.; Stein, Jens V.; Sharpe, James (Hindawi, 2012)

  Deep tissue imaging has become state of the art in biology, but now the problem is to quantify spatial information in a global, organ-wide context. Although access to the raw data is no longer a limitation, the computational ...
• Coverage of cervical cancer screening in Catalonia for the period 2008-2011 among immigrants and Spanish-born women

  Rodríguez Salés, Vanesa, 1982-; Roura, Esther; Ibañez, Raquel; Peris, Mercè; Bosch José, Francesc Xavier, 1947-; Sanjosé Llongueras, Silvia de (Frontiers Media, 2013)

  BACKGROUND: Female immigration in Catalonia, Spain, increased dramatically in the last 10 years. The Public Health system in the Region, provides a free of charge opportunistic cervical cancer screening. AIM: This study ...
• Physical activity domains and risk of gastric adenocarcinoma in the MCC-Spain case-control study.

  Huerta, José María; Chirlaque, María Dolores; Molina, Antonio; Amiano, Pilar; Martín Sánchez, Vicente; Fernández-Villa, Tania; Pérez-Gómez, Beatriz; Moreno, Víctor; Burgui, Rosana; Gómez-Acebo, Inés; Ramos-Lora, Manuel; Fernández-Tardón, Guillermo; Peiró, Rosana; Olmedo-Requena, Rocío; Pollan, Marina; Kogevinas, Manolis; Castaño Vinyals, Gemma; Aragonés, Núria; Navarro, Carmen (Public Library of Science (PLoS), 2017)

  BACKGROUND:Evidence for a protective role of physical activity against development of stomach cancer is yet inconclusive. We studied the association of domain-specific physical activity and the risk of gastric adenocarcinoma ...

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