Browsing by Author "Ponomarenko, Julia"

Sort by: Order: Results:

  • 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 ...
  • A set point in the selection of the αβTCR T cell repertoire imposed by pre-TCR signaling strength
    Bovolenta, Elena R.; García-Cuesta, Eva M.; Horndler, Lydia; Ponomarenko, Julia; Schamel, Wolfgang W.; Mellado, Mario; Castro, Mario; Abia, David; van Santen, Hisse M. (National Academy of Sciences, 2022)
    Signaling via the T cell receptor (TCR) is critical during the development, maintenance, and activation of T cells. Quantitative aspects of TCR signaling have an important role during positive and negative selection, lineage ...
  • An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms
    Tapial Rodríguez, Javier, 1990-; Ha, Kevin C. H.; Sterne-Weiler, Thimothy; Gohr, André; Braunschweig, Ulrich; Hermoso Pulido, Antonio; Quesnel-Vallières, Mathieu; Permanyer, Jon; Sodaei, Reza, 1988-; Marquez, Yamile; Cozzuto, Luca; Wang, Xinchen; Gómez-Velázquez, Melisa; Rayon, Teresa; Manzanares, Miguel; Ponomarenko, Julia; Blencowe, Benjamin J.; Irimia, Manuel (Cold Spring Harbor Laboratory Press (CSHL Press), 2017)
    Alternative splicing (AS) generates remarkable regulatory and proteomic complexity in metazoans. However, the functions of most AS events are not known, and programs of regulated splicing remain to be identified. To address ...
  • Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition
    Willis, Jesse R.; González-Torres, Pedro; Pittis, Alexandros, 1982-; Bejarano, Luis A.; Cozzuto, Luca; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Valentín, Antònia; Ksiezopolska, Ewa; Company, Carlos; Onywera, Harris; Montfort, Magda; Hermoso Pulido, Antonio; Iraola Guzman, Susana; Saus Martínez, Ester; Labeeuw, Annick; Carolis, Carlo; Hecht, Jochen; Ponomarenko, Julia; Gabaldón Estevan, Juan Antonio, 1973- (BioMed Central, 2018)
    Background: The oral cavity comprises a rich and diverse microbiome, which plays important roles in health and disease. Previous studies have mostly focused on adult populations or in very young children, whereas the ...
  • Citizen-science based study of the oral microbiome in Cystic fibrosis and matched controls reveals major differences in diversity and abundance of bacterial and fungal species
    Willis, Jesse R.; Saus Martínez, Ester; Iraola Guzman, Susana; Cabello-Yeves, Elena; Ksiezopolska, Ewa; Cozzuto, Luca; Bejarano, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Blanco, Andrea; Puig-Sola, Anna; Broglio, Elisabetta; Carolis, Carlo; Ponomarenko, Julia; Hecht, Jochen; Gabaldón Estevan, Juan Antonio, 1973- (Taylor & Francis, 2021)
    Introduction: Cystic fibrosis (CF) is an autosomal genetic disease, associated with the production of excessively thick mucosa and with life-threatening chronic lung infections. The microbiota of the oral cavity can act ...
  • Citizen-science reveals changes in the oral microbiome in Spain through age and lifestyle factors
    Willis, Jesse R.; Saus Martínez, Ester; Iraola-Guzmán, Susana; Księżopolska, Ewa, 1987-; Cozzuto, Luca; Bejanaro, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Blanco, Andrea; Puig-Sola, Anna; Broglio, Elisabetta; Carolis, Carlo; Ponomarenko, Julia; Hecht, Jochen; Gabaldón Estevan, Juan Antonio, 1973- (Nature Research, 2022)
    The relevance of the human oral microbiome to our understanding of human health has grown in recent years as microbiome studies continue to develop. Given the links of the oral cavity with the digestive, respiratory and ...
  • Determination of primary microRNA processing in clinical samples by targeted pri-miR-sequencing
    Conrad, Thomas; Ntini, Evgenia; Lang, Benjamin; Cozzuto, Luca; Andersen, Jesper B.; Marquardt, Jens U.; Ponomarenko, Julia; Tartaglia, Gian Gaetano; Vang Ørom, Ulf A. (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    MicroRNA expression is important for gene regulation and deregulated microRNA expression is often observed in diseases such as cancer. The processing of primary microRNA transcripts is an important regulatory step in ...
  • EV-associated miRNAs from peritoneal lavage are a source of biomarkers in endometrial cancer
    Roman-Canal, Berta; Pablo-Moiola, Cristian; Gatius, Sònia; Bonnin, Sarah; Ruiz-Miró, Maria; González, Esperanza; González-Tallada, Xavier; Llordella, Ivanna; Hernández, Isabel; Porcel, José M.; Gil-Moreno, Antonio; Falcón-Pérez, Juan M.; Ponomarenko, Julia; Matias-Guiu, Xavier; Colas, Eva (MDPI, 2019)
    Endometrial cancer (EC) is the sixth most common cancer in women worldwide and is responsible for more than 89,000 deaths every year. Mortality is associated with presence of poor prognostic factors at diagnosis, i.e., ...
  • EV-associated miRNAs from peritoneal lavage as potential diagnostic biomarkers in colorectal cancer
    Roman-Canal, Berta; Tarragona, Jordi; Moiola, Cristian Pablo; Gatius, Sònia; Bonnin, Sarah; Ruiz-Miró, Maria; Sierra, José Enrique; Rufas, Maria; González, Esperanza; Porcel, José M.; Gil-Moreno, Antonio; Falcón-Pérez, Juan M.; Ponomarenko, Julia; Matias-Guiu, Xavier; Colas, Eva (BioMed Central, 2019)
    Background: Colorectal cancer (CRC) is the third leading cause of cancer-related mortality worldwide. Current systematic methods for diagnosing have inherent limitations so development of a minimally-invasive diagnosis, ...
  • EV-associated miRNAs from pleural lavage as potential diagnostic biomarkers in lung cancer
    Roman-Canal, Berta; Moiola, Cristian Pablo; Gatius, Sònia; Bonnin, Sarah; Ruiz-Miró, Maria; González, Esperanza; Ojanguren, Amaia; Recuero, José Luis; Gil-Moreno, Antonio; Falcón-Pérez, Juan M.; Ponomarenko, Julia; Porcel, José M.; Matias-Guiu, Xavier; Colas, Eva (Nature Research, 2019)
    Lung cancer is the leading cause of cancer-related deaths among men and women in the world, accounting for the 25% of cancer mortality. Early diagnosis is an unmet clinical issue. In this work, we focused to develop a novel ...
  • ExOrthist: a tool to infer exon orthologies at any evolutionary distance
    Márquez, Yamile; Mantica, Federica; Cozzuto, Luca; Burguera, Demián; Hermoso Pulido, Antonio; Ponomarenko, Julia; Roy, Scott W.; Irimia, Manuel (BioMed Central, 2021)
    Several bioinformatic tools have been developed for genome-wide identification of orthologous and paralogous genes. However, no corresponding tool allows the detection of exon homology relationships. Here, we present ...
  • FA-nf: a functional annotation pipeline for proteins from non-model organisms implemented in nextflow
    Vlasova, Anna; Hermoso Pulido, Antonio; Camara, Francisco; Ponomarenko, Julia; Guigó Serra, Roderic (MDPI, 2021)
    Functional annotation allows adding biologically relevant information to predicted features in genomic sequences, and it is, therefore, an important procedure of any de novo genome sequencing project. It is also useful for ...
  • Fiber-like action of d-fagomine on the gut microbiota and body weight of healthy rats
    Ramos-Romero, Sara; Ponomarenko, Julia; Amézqueta, Susana; Hereu, Mercè; Miralles-Pérez, Bernat; Romeu, Marta; Méndez, Lucía; Medina, Isabel; Torres, Josep Lluís (MDPI, 2022)
    The goal of this work is to explore if the changes induced by d-fagomine in the gut microbiota are compatible with its effect on body weight and inflammation markers in rats. Methods: Sprague Dawley rats were fed a standard ...
  • From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation
    Ghose, Ritobrata; Aranguren-Ibáñez, Álvaro; Arecco, Niccolò; Balboa, Diego; Bataller, Marc; Beltran, Sergi; Benisty, Hannah, 1986-; Bénard, Angèle; Bernardo, Edgar; Carbonell Sala, Silvia; Casals, Eloi; Ciampi, Ludovica; Condemi, Livia; Corvò, Alberto; Cosín-Tomás, Marta; Cuenca-Ardura, Mirabai; Duran Serrano, Juan Manuel; Espejo Díaz, María Isabel; Fernández Callejo, Marcos; Gañez-Zapater, Antoni; Garcia-Castellanos, Raquel; Garrido, Romina; Henkin, Gil; Hermoso Pulido, Antonio; Hernandez-Alias, Xavier; Herrero Vicente, Jorge; Ingham, Matthew; Lim, Wei Ming; Llonch, Sílvia; Marmesat Bertoli, Elena; Miguel Escalada, Irene; Montero-Blay, Ariadna; Navarrete Hernández, Cristina; Neguembor, Maria Victoria; Ní Chárthaigh, Róisín-Ana; Pardo-Lorente, Natalia; Pascual-Reguant, Laura, 1990-; Pérez-Lluch, Sílvia; Perza, Reyes; Pesaresi, Martina, 1991-; Picó Amado, Daniel; Pifarré, Paula; Piscia, Davide; Plana-Carmona, Marcos; Ponomarenko, Julia; Radusky, Leandro; Rivero, Ezequiel; Rogalska, Malgorzata; Torcal Garcia, Guillem, 1991-; Wojnacki, José (F1000Research, 2020)
    The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a vaccine, as well as to ...
  • Impact of COVID-19 lockdown on the nasopharyngeal microbiota of children and adults self-confined at home
    Rocafort, Muntsa; Henares, Desiree; Brotons, Pedro; Launes, Cristian; Fernandez de Sevilla, Mariona; Fumadó, Victoria; Barrabeig, Irene; Arias, Sara; Redin, Alba; Ponomarenko, Julia; Mele, Maria; Millat-Martínez, Pere; Claverol, Joana; Balanza, Núria; Mira, Alex; Garcia-Garcia, Juan Jose; Bassat, Quique; Jordan, Iolanda; Muñoz-Almagro, Carmen (MDPI, 2022)
    The increased incidence of COVID-19 cases and deaths in Spain in March 2020 led to the declaration by the Spanish government of a state of emergency imposing strict confinement measures on the population. The objective of ...
  • Influence of dietary inulin on fecal microbiota, cardiometabolic risk factors, eicosanoids, and oxidative stress in rats fed a high-fat diet
    Miralles-Pérez, Bernat; Nogués, Maria Rosa; Sánchez-Martos, Vanessa; Fortuño-Mar, Àngels; Ramos-Romero, Sara; Torres, Josep Lluís; Ponomarenko, Julia; Amézqueta, Susana; Zhang, Xiang; Romeu, Marta (MDPI, 2022)
    The present study examined the influence of inulin on fecal microbiota, cardiometabolic risk factors, eicosanoids, and oxidative stress in rats on a high-fat (HF) diet. Thirty-six male Wistar-Kyoto rats were divided into ...
  • LCOR mediates interferon-independent tumor immunogenicity and responsiveness to immune-checkpoint blockade in triple-negative breast cancer
    Pérez-Núñez, Iván; Rozalén, Catalina; Palomeque, José Ángel; Sangrador, Irene; Dalmau, Mariona; Comerma Blesa, Laura, 1983-; Hernández Prat, Anna, 1984-; Casadevall Aguilar, David; Menendez Romero, Silvia; Liu, Daniel Dan; Berenguer De Felipe, Jordi; Peña Arranz, Raúl, 1976; Montañés, José Carlos; Albà Soler, Mar; Bonnin, Sarah; Ponomarenko, Julia; Servitja Tormo, Sonia; Arribas, Joaquín; Albanell Mestres, Joan; Celià-Terrassa, Toni (Nature Research, 2022)
    Ligand-dependent corepressor (LCOR) mediates normal and malignant breast stem cell differentiation. Cancer stem cells (CSCs) generate phenotypic heterogeneity and drive therapy resistance, yet their role in immunotherapy ...
  • MasterOfPores: A workflow for the analysis of Oxford nanopore direct RNA sequencing datasets
    Cozzuto, Luca; Liu, Huanle; Pryszcz, Leszek Piotr, 1985-; Hermoso Pulido, Antonio; Delgado-Tejedor, Anna; Ponomarenko, Julia; Novoa, Eva Maria (Frontiers Media, 2020)
    The direct RNA sequencing platform offered by Oxford Nanopore Technologies allows for direct measurement of RNA molecules without the need of conversion to complementary DNA, fragmentation or amplification. As such, it is ...
  • Oral microbiome in down syndrome and its implications on oral health
    Willis, Jesse R.; Iraola Guzman, Susana; Saus Martínez, Ester; Ksiezopolska, Ewa; Cozzuto, Luca; Bejarano, Luis A.; Andreu Somavilla, Núria; Alloza-Trabado, Miriam; Puig, Anna; Blanco, Andrea; Broglio, Elisabetta; Carolis, Carlo; Hecht, Jochen; Ponomarenko, Julia; Gabaldón Estevan, Juan Antonio, 1973- (Taylor & Francis Open Access, 2020)
    Introduction: The oral cavity harbors an abundant and diverse microbial community (i.e. the microbiome), whose composition and roles in health and disease have been the focus of intense research. Down syndrome (DS) is ...
  • Pergola-web: a web server for the visualization and analysis of longitudinal behavioral data using repurposed genomics tools and standards
    Espinosa-Carrasco, José; Hermoso Pulido, Antonio; Erb, Ionas; Dierssen, Mara; Ponomarenko, Julia; Notredame, Cedric (Oxford University Press, 2019)
    We present a new web application to query and visualize time-series behavioral data: the Pergola web-server. This server provides a user-friendly interface for exploring longitudinal behavioral data taking advantage of the ...