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Browsing Articles (Center for Genomic Regulation (CRG)) by Title

Browsing Articles (Center for Genomic Regulation (CRG)) by Title

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  • Garrido Martín, Diego, 1992-; Borsari, Beatrice, 1992-; Calvo, Miquel (Calvo Llorca); Reverter, Ferran; Guigó Serra, Roderic (Nature Research, 2021)
    Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it ...
  • Aguilera, Cinthia; Gabau, Elisabeth; Laurie, Steven, 1973-; Baena, Neus; Derdak, Sophia; Capdevila, Núria; Ramirez, Ariadna; Delgadillo, Veronica; García-Catalan, Maria Jesus; Brun i Gasca, Carme; Guitart, Miriam; Ruiz, Anna (Wiley, 2019)
    Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% ...
  • Bellmunt Molins, Joaquim, 1959-; Selvarajah, Shamini; Rodig, Scott; Salido Galeote, Marta; Muga, Silvia de; Costa, Irmgard; Bellosillo Paricio, Beatriz; Werner, Lillian; Mullane, Stephanie A.; Fay, André P.; O’Brien, Robert; Barretina, Jordi; Minoche, André E.; Signoretti, Sabina; Montagut Viladot, Clara; Himmelbauer, Heinz; Berman, David M.; Kantoff, Philip; Choueiri, Toni K.; Rosenberg, Jonathan E. (Public Library of Science (PLoS), 2014)
    Anaplastic lymphoma kinase (ALK) genomic alterations have emerged as a potent predictor of benefit from treatment with ALK inhibitors in several cancers. Currently, there is no information about ALK gene alterations in ...
  • Ruiz-Arenas, Carlos; Hernandez-Ferrer, Carles, 1987-; Vives Usano, Marta, 1990-; Marí, Sergi; Casas Sanahuja, Maribel; Vafeiadi, Marina, 1983-; Vrijheid, Martine; González Ruiz, Juan Ramón; Bustamante Pineda, Mariona (eLife Sciences Publications, 2022)
    Background: The identification of expression quantitative trait methylation (eQTMs), defined as associations between DNA methylation levels and gene expression, might help the biological interpretation of epigenome-wide ...
  • Defaus, Sira; Avilés, Manuel; Andreu Martínez, David; Gutiérrez Gallego, Ricardo, 1968- (Elsevier, 2016)
    Glycan-protein interactions play a key role in mammalian fertilization, but data on the composition and identities of protein complexes involved in fertilization events are scarce, with the added complication that the ...
  • Galan Martínez, Silvia, 1992-; Serra, François; Marti-Renom, Marc A. (Oxford University Press, 2022)
    Genome-wide profiling of long-range interactions has revealed that the CCCTC-Binding factor (CTCF) often anchors chromatin loops and is enriched at boundaries of the so-called Topologically Associating Domains, which ...
  • Kuderna, Lukas, 1989-; Valenzuela, Alejandro; Navarro i Cuartiellas, Arcadi, 1969-; Marquès i Bonet, Tomàs, 1975-; Kai-How Farh, Kyle (Nature Research, 2023)
    Noncoding DNA is central to our understanding of human gene regulation and complex diseases1,2, and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in ...
  • Tian, Tian V.; Vidal Ocabo, Enrique; Graf, T. (Thomas); Stik, Grégoire (MyJove Corporation, 2020)
    During mammalian development, cell fates are determined through the establishment of regulatory networks that define the specificity, timing, and spatial patterns of gene expression. Embryoid bodies (EBs) derived from ...
  • Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955- (Elsevier, 2016)
    Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being ...
  • Monlong, Jean; Calvo, Miquel (Calvo Llorca); Ferreira, Pedro G.; Guigó Serra, Roderic (Nature Publishing Group, 2014)
    Identification of genetic variants affecting splicing in RNA sequencing population studies is still in its infancy. Splicing phenotype is more complex than gene expression and ought to be treated as a multivariate phenotype ...
  • Velten, Lars; Story, Benjamin A.; Hernández-Malmierca, Pablo; Raffel, Simon; Leonce, Daniel R.; Milbank, Jennifer; Paulsen, Malte; Demir, Aykut; Szu-Tu, Chelsea; Frömel, Robert; Lutz, Christoph; Novak, Daniel; Jann, Johann-Christoph; Pabst, Caroline; Boch, Tobias; Hofmann, Wolf-Karsten; Müller-Tidow, Carsten; Trumpp, Andreas; Haas, Simon; Steinmetz, Lars M. (Nature Research, 2021)
    Cancer stem cells drive disease progression and relapse in many types of cancer. Despite this, a thorough characterization of these cells remains elusive and with it the ability to eradicate cancer at its source. In acute ...
  • Cava, Claudia; Armaos, Alexandros, 1989-; Lang, Benjamin; Tartaglia, Gian Gaetano; Castiglioni, Isabella (Nature Research, 2022)
    Breast cancer is a heterogeneous disease classified into four main subtypes with different clinical outcomes, such as patient survival, prognosis, and relapse. Current genetic tests for the differential diagnosis of BC ...
  • Clop, Alex; Sharaf, Abdoallah; Castelló, Anna; Ramos-Onsins, Sebastián; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltran, Sergi; Huisman, Abe; Fredholm, Merete; van As, Pieter; Sánchez, Armand (BioMed Central, 2016)
    Background: Taste receptors (TASRs) are essential for the body’s recognition of chemical compounds. In the tongue, TASRs sense the sweet and umami and the toxin-related bitter taste thus promoting a particular eating ...
  • Alonso Alonso, Ruth; Mondéjar, Rufino; Martínez, Nerea; García Diaz, Nuria; Pérez, Cristina; Merino, David; Rodríguez, Marta; Esteve-Codina, Anna; Fusté, Berta; Gut, Marta; Burrows, Francis; Scholz, Catherine; Vaqué, José Pedro; Gualberto, Antonio; Piris, Miguel A. (Nature Research, 2020)
    Patients diagnosed with T-cell leukemias and T-cell lymphomas (TCLs) still have a poor prognosis and an inadequate response to current therapies, highlighting the need for targeted treatments. We have analyzed the potential ...
  • Scherer, Michael; Gasparoni, Gilles; Rahmouni, Souad; Shashkova, Tatiana; Arnoux, Marion; Louis, Edouard; Nostaeva, Arina; Avalos, Diana; Dermitzakis, Emmanuouil T.; Aulchenko, Yurii S.; Lengauer, Thomas; Lyons, Paul A.; Georges, Michel; Walter, Jörn (BioMed Central, 2021)
    Background: Understanding the influence of genetic variants on DNA methylation is fundamental for the interpretation of epigenomic data in the context of disease. There is a need for systematic approaches not only for ...
  • Johnson, Sterling C.; Suárez-Calvet, Marc; Suridjan, Ivonne; Minguillón, Carolina; Gispert López, Juan Domingo; Jonaitis, Erin; Michna, Agatha; Carboni, Margherita; Bittner, Tobias; Rabe, Christina; Kollmorgen, Gwendlyn; Zetterberg, Henrik; Blennow, Kaj (BioMed Central, 2023)
    Background: Alzheimer's disease (AD) is a complex and heterogeneous disease, which requires reliable biomarkers for diagnosis and monitoring disease activity. Preanalytical protocol and technical variability associated ...
  • Manaig, Yron Joseph Yabut; Criado-Mesas, Lourdes; Esteve-Codina, Anna; Mármol-Sánchez, Emilio; Castelló, Anna; Sánchez, Armand; Folch, Josep M. (Public Library of Science (PLoS), 2023)
    Omega-3 (n-3) and omega-6 (n-6) polyunsaturated fatty acids (PUFAs) are essential fatty acids with antagonistic inflammatory functions that play vital roles in metabolic health and immune response. Current commercial swine ...
  • Senthivel, Vivek Raj, 1983-; Sturrock, Marc; Piedrafita, Gabriel; Isalan, Mark (Nature Publishing Group, 2016)
    Nonlinear responses to signals are widespread natural phenomena that affect various cellular processes. Nonlinearity can be a desirable characteristic for engineering living organisms because it can lead to more switch-like ...
  • Aznar Benitah, Salvador; Lafzi, Atefeh; Berenguer-Llergo, Antonio; Youssif, Catrin; Castellanos, Andrés; Solanas, Guiomar; Peixoto, Francisca Oliveira; Stephan-Otto Attolini, Camille; Prats, Neus; Aguilera, Mònica; Martín Caballero, Juan; Heyn, Holger; Aznar Benitah, Salvador (Elsevier, 2018)
    During aging, stromal functions are thought to be impaired, but little is known whether this stems from changes of fibroblasts. Using population- and single-cell transcriptomics, as well as long-term lineage tracing, we ...
  • Colomer Montañà, Carlota, 1990-; Margalef González, Pol, 1985-; Villanueva, Alberto; Vert, Anna; Pecharroman, Irene; Solé, Laura; González-Farré, Mónica; Alonso, Josune; Montagut Viladot, Clara; Martínez Iniesta, María; Bertran, Joan; Borràs, Eva; Iglesias, Mar; Sabidó Aguadé, Eduard, 1981-; Bigas Salvans, Anna; Boulton, Simon J.; Espinosa Blay, Lluís (Elsevier, 2019)
    Phosphorylated IKKalpha(p45) is a nuclear active form of the IKKalpha kinase that is induced by the MAP kinases BRAF and TAK1 and promotes tumor growth independent of canonical NF-¿B signaling. Insights into the sources ...

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