Articles (Center for Genomic Regulation (CRG))

 

Recent Submissions

  • Thomy, Julie; Sanchez, Frederic; Gut, Marta; Cruz, Fernando; Alioto, Tyler; Piganeau, Gwenael; Grimsley, Nigel; Yau, Sheree (MDPI, 2021)
    Ostreococcus tauri is a simple unicellular green alga representing an ecologically important group of phytoplankton in oceans worldwide. Modern molecular techniques must be developed in order to understand the mechanisms ...
  • Hernandez-Alias, Xavier; Benisty, Hannah, 1986-; Schaefer, Martin H.; Serrano Pubull, Luis, 1982- (Cell Press, 2021)
    Viruses need to hijack the translational machinery of the host cell for a productive infection to happen. However, given the dynamic landscape of tRNA pools among tissues, it is unclear whether different viruses infecting ...
  • Furlano, Mónica; Martínez, Víctor; Pybus Oliveras, Marc, 1985-; Arce, Yolanda; Crespi, Jaume; Del Prado Venegas, María; Bullich, Gemma; Domingo, Andrea; Ayasreh, Nadia; Benito, Sílvia; Lorente, Laura; Ruiz, Patricia; López Gonzalez, Vanesa; Arlandis, Rosa; Cabello, Elisa; Torres, Ferran; Guirado, Lluis; Ars, Elisabet; Torra, Roser (Elsevier, 2021)
    Rationale & objective: Alport syndrome (AS) is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in COL4A3, COL4A4 ...
  • Elorza, Ainara; Márquez, Yamile; Cabrera, Jorge; Sánchez-Trincado, José Luis; Santos-Galindo, María; Hernández, Ivó H.; Picó, Sara; Díaz-Hernández, Juan I.; García-Escudero, Ramón; Irimia, Manuel; Lucas, José J. (Oxford University Press, 2021)
    Correction of mis-splicing events is a growing therapeutic approach for neurological diseases such as spinal muscular atrophy or neuronal ceroid lipofuscinosis 7, which are caused by splicing-affecting mutations. Non-mutation ...
  • Hoijman, Esteban; Häkkinen, Hanna-Maria; Tolosa-Ramon, Queralt; Jiménez-Delgado, Senda; Wyatt, Christopher Douglas Robert, 1988-; Miret-Cuesta, Marta; Irimia, Manuel; Callan-Jones, Andrew; Wieser, Stefan; Ruprecht, Verena (Nature Research, 2021)
    Errors in early embryogenesis are a cause of sporadic cell death and developmental failure1,2. Phagocytic activity has a central role in scavenging apoptotic cells in differentiated tissues3-6. However, how apoptotic cells ...
  • Raote, Ishier; Malhotra, Vivek (Annual Reviews Inc, 2021)
    The functions of coat protein complex II (COPII) coats in cargo packaging and the creation of vesicles at the endoplasmic reticulum are conserved in eukaryotic protein secretion. Standard COPII vesicles, however, cannot ...
  • Serres Armero, Aitor; Davis, Brian W.; Povolotskaya, Inna, 1986-; Morcillo Suárez, Carlos, 1969-; Plassais, Jocelyn; Juan, David; Ostrander, Elaine A.; Marquès i Bonet, Tomàs, 1975- (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Extreme phenotypic diversity, a history of artificial selection, and socioeconomic value make domestic dog breeds a compelling subject for genomic research. Copy number variation (CNV) is known to account for a significant ...
  • Kalmykova, Svetlana; Kalinina, Marina; Denisov, Stepan; Mironov, Alexey; Skvortsov, Dmitry; Guigó Serra, Roderic; Pervouchine, Dmitri D. (Nature Research, 2021)
    The ability of nucleic acids to form double-stranded structures is essential for all living systems on Earth. Current knowledge on functional RNA structures is focused on locally-occurring base pairs. However, crosslinking ...
  • Wang, Yifan; Lobon, Irene; Juan, David; Lizano, Esther; Marquès i Bonet, Tomàs, 1975-; Abyzov, Alexej (BioMed Central, 2021)
    Background: Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. ...
  • Orkin, Joseph D.; Kuderna, Lukas F.K.; Marquès i Bonet, Tomàs, 1975- (Annual Reviews Inc, 2021)
    Until now, the field of primate genomics has focused on two major themes: understanding human evolution and advancing biomedical research. We propose that it is now time for a third theme to receive attention: conservation ...
  • 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 ...
  • Quesnel-Vallières, Mathieu; Dargaei, Zahra; Irimia, Manuel; Gonatopoulos-Pournatzis, Thomas; Ip, Joanna Y.; Wu, Mingkun; Sterne-Weiler, Thimothy; Nakagawa, Shinichi; Woodin, Melanie A.; Blencowe, Benjamin J.; Cordes, Sabine P. (Elsevier, 2016)
    A key challenge in understanding and ultimately treating autism is to identify common molecular mechanisms underlying this genetically heterogeneous disorder. Transcriptomic profiling of autistic brains has revealed ...
  • Hüls, Anke; Dierssen, Mara; Mayer, Miguel Ángel, 1960-; T21RS COVID-19 Initiative (Elsevier, 2021)
    Background: Health conditions, immune dysfunction, and premature aging associated with trisomy 21 (Down syndrome, DS) may impact the clinical course of COVID-19. Methods: The T21RS COVID-19 Initiative launched an international ...
  • Cáceres, Alejandro; Jene, Aina; Esko, Tõnu; Pérez Jurado, Luis Alberto; González, Juan Ramón (Oxford University Press, 2020)
    Background: Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized that the extreme downregulation of chromosome Y gene expression (EDY) is ...
  • Montaser, Hossam; Patel, Kashyap A.; Balboa, Diego; Ibrahim, Hazem; Lithovius, Väinö; Näätänen, Anna; Chandra, Vikash; Demir, Korcan; Acar, Sezer; Ben-Omran, Tawfeg; Colclough, Kevin; Locke, Jonathan M; Wakeling, Matthew; Lindahl, Maria; Hattersley, Andrew T.; Saarimäki-Vire, Jonna; Otonkoski, Timo (American Diabetes Association, 2021)
    Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and ...
  • Supek, Fran; Lehner, Ben, 1978-; Lindeboom, Rik G.H. (Elsevier, 2020)
    The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs bearing premature termination codons (PTCs). Decades of work have elucidated the molecular mechanisms of NMD. More recently, statistical analyses ...
  • Starbuck, John M.; Llambrich, Sergi; González, Rubén; Albaigès, Júlia; Sarlé, Anna; Wouters, Jens; González, Alejandro; Sevillano, Xavier; Sharpe, James; Torre Fornell, Rafael de la; Dierssen, Mara; Velde, Greetje Vande; Martínez Abadías, Neus (Nature Research, 2021)
    Trisomy of human chromosome 21 (Down syndrome, DS) alters development of multiple organ systems, including the face and underlying skeleton. Besides causing stigmata, these facial dysmorphologies can impair vital functions ...
  • De Toma, Ilario; Dierssen, Mara (Nature Research, 2021)
    SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk ...
  • Indacochea Cusirramos, Alberto; Guerrero Jijon, Santiago Xavier; Ureña, Macarena; Araujo, Ferrán; Coll, Olga; Lleonart, Matilde E.; Gebauer, Fátima (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Cold-inducible RNA binding protein (CIRBP) is a stress-responsive protein that promotes cancer development and inflammation. Critical to most CIRBP functions is its capacity to bind and posttranscriptionally modulate mRNA. ...
  • Delgado Blanco, Javier; Hernandez-Alias, Xavier; Cianferoni, Damiano; Serrano Pubull, Luis, 1982- (Public Library of Science (PLoS), 2020)
    The coronavirus disease COVID-19 constitutes the most severe pandemic of the last decades having caused more than 1 million deaths worldwide. The SARS-CoV-2 virus recognizes the angiotensin converting enzyme 2 (ACE2) on ...

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