Articles (Center for Genomic Regulation (CRG))

 

Enviaments recents

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Vidal, Silvia; Brandi, Núria; Pacheco, Paola; Gerotina, Edgar; Blasco, Laura; Trotta, Jean-Remi; Derdak, Sophia; del Mar O'Callaghan, María; García Cazorla, Àngels; Pineda, Mercè; Armstrong, Judith; Rett Working Group (Nature Publishing Group, 2017)
    Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology ...
  • Imperlini, Esther; Gnecchi, Massimiliano; Rognoni, Paola; Sabido Aguade, Eduard; Ciuffreda, Maria Chiara; Palladini, Giovanni; Espadas, Guadalupe; Mancuso, Francesco M.; Bozzola, Margherita; Malpasso, Giuseppe; Valentini, Veronica; Palladini, Giuseppina; Orrù, Stefania; Ferraro, Giovanni; Milani, Paolo; Perlini, Stefano; Salvatore, Francesco; Merlini, Giampaolo; Lavatelli, Francesca (Nature Publishing Group, 2017)
    AL amyloidosis is characterized by widespread deposition of immunoglobulin light chains (LCs) as amyloid fibrils. Cardiac involvement is frequent and leads to life-threatening cardiomyopathy. Besides the tissue alteration ...
  • Zapata Ortiz, Luis, 1985-; Susak, Hana; Drechsel, Oliver; Friedländer, Marc R.; Estivill, Xavier, 1955-; Ossowski, Stephan (Nature Publishing Group, 2017)
    Tumors are composed of an evolving population of cells subjected to tissue-specific selection, which fuels tumor heterogeneity and ultimately complicates cancer driver gene identification. Here, we integrate cancer cell ...
  • Carballar, Reyes; Canyelles, Maria de Lluc; Fernández, Claudia; Martí, Yasmina; Bonnin, Sarah; Castaño, Esther; Montanya, Eduard; Téllez, Noèlia (Nature Publishing Group, 2017)
    β-cell proliferation is a rare event in adult pancreatic islets. To study the replication-related β-cell biology we designed a replicating β-cells sorting system for gene expression experiments. Replicating β-cells were ...
  • Chinnaswamy, Sreedhar; Wardzynska, Aleksandra; Pawelczyk, Malgorzata; Makowska, Joanna; Skaaby, Tea; Mercader Bigas, Josep Maria; Ahluwalia, Tarunveer Singh; Grarup, Niels; Guindo Martínez, Marta; Bisgaard, Hans; Torrents, David; Linneberg, Allan; Bønnelykke, Klaus; Kowalski, Marek L. (Nature Publishing Group, 2017)
    Lambda interferons (IFNLs) have immunomodulatory functions at epithelial barrier surfaces. IFN-λ4, a recent member of this family is expressed only in a subset of the population due to a frameshift-causing DNA polymorphism ...
  • Bauër, Pierre; Tavacoli, Joseph; Pujol, Thomas; Planade, Jessica; Heuvingh, Julien; du Roure, Olivia (Nature Publishing Group, 2017)
    We measured mechanical properties and dynamic assembly of actin networks with a new method based on magnetic microscopic cylinders. Dense actin networks are grown from the cylinders' surfaces using the biochemical ...
  • Cillingová, Andrea; Zeman, Igor; Tóth, Renáta; Neboháčová, Martina; Dunčková, Ivana; Hölcová, Mária; Jakúbková, Michaela; Gérecová, Gabriela; Pryszcz, Leszek Piotr, 1985-; Tomáška, L'ubomír; Gabaldón Estevan, Juan Antonio, 1973-; Gácser, Attila; Nosek, Jozef (Nature Publishing Group, 2017)
    Several yeast species catabolize hydroxyderivatives of benzoic acid. However, the nature of carriers responsible for transport of these compounds across the plasma membrane is currently unknown. In this study, we analyzed ...
  • Chaves Pozo, Elena; Valero, Yulema; Esteve-Codina, Anna; Gómez Garrido, Jèssica; Dabad, Marc; Alioto, Tyler; Meseguer, José; Esteban, María Ángeles; Cuesta, Alberto (Nature Publishing Group, 2017)
    Nervous necrosis virus (NNV) causes high mortalities in several marine species. We aimed to evaluate the innate cell-mediated cytotoxic (CMC) activity of head-kidney leucocytes (HKLs) isolated from naïve European sea bass ...
  • López Escardó, David, 1988-; Grau Bové, Xavier; Guillaumet-Adkins, Amy; Gut, Marta; Sieracki, Michael E.; Ruiz-Trillo, Iñaki (Nature Publishing Group, 2017)
    Single-cell genomics (SCG) appeared as a powerful technique to get genomic information from uncultured organisms. However, SCG techniques suffer from biases at the whole genome amplification step that can lead to extremely ...
  • MacNicol, Melanie C.; Cragle, Chad E.; McDaniel, F. Kennedy; Hardy, Linda L.; Wang, Yan; Arumugam, Karthik; Rahmatallah, Yasir A.; Glazko, Galina V.; Wilczynska, Ania; Childs, Gwen V.; Zhou, Daohong; MacNicol, Angus M. (Nature Publishing Group, 2017)
    The Musashi family of RNA binding proteins act to promote stem cell self-renewal and oppose cell differentiation predominantly through translational repression of mRNAs encoding pro-differentiation factors and inhibitors ...
  • Batlle, Cristina; Sanchez de Groot, Natalia; Iglesias, Valentin; Navarro, Susanna; Ventura, Salvador (Nature Publishing Group, 2017)
    Prion-like behaviour is attracting much attention due to the growing evidences that amyloid-like self-assembly may reach beyond neurodegeneration and be a conserved functional mechanism. The best characterized functional ...
  • Theka, Ilda, 1984-; Sottile, Francesco, 1988-; Aulicino, Francesco, 1987-; García, Álvaro Castells; Cosma, Maria Pia, 1970- (Nature Publishing Group, 2017)
    Imprinted genes control several cellular and metabolic processes in embryonic and adult tissues. In particular, paternally expressed gene-3 (Peg3) is active in the adult stem cell population and during muscle and neuronal ...
  • Carija, Anita; Navarro, Susanna; Sanchez de Groot, Natalia; Ventura, Salvador (Elsevier, 2017)
    Protein misfolding and aggregation have been associated with the onset of neurodegenerative disorders. Recent studies demonstrate that the aggregation process can result in a high diversity of protein conformational states, ...
  • Matsuo, Yuzy; Maurer, Sebastian; Surrey, Thomas; Toda, Takashi (Elsevier, 2017)
    The Ndc80 complex is a conserved outer kinetochore protein complex consisting of Ndc80 (Hec1), Nuf2, Spc24 and Spc25. This complex comprises a major, if not the sole, platform with which the plus ends of the spindle ...
  • García Pardo, Javier; Tanco, Sebastián Martín; Díaz, Lucía; Dasgupta, Sayani; Fernández Recio, Juan; Lorenzo, Júlia; Avilés, Francesc Xavier; Fricker, Lloyd D. (Public Library of Science (PLoS), 2017)
    Metallocarboxypeptidase D (CPD) is a membrane-bound component of the trans-Golgi network that cycles to the cell surface through exocytic and endocytic pathways. Unlike other members of the metallocarboxypeptidase family, ...
  • Savol, Andrej J.; Wang, Peggy I.; Jeon, Yesu; Colognori, David; Yildirim, Eda; Pinter, Stefan F.; Payer, Bernhard, 1975-; Lee, Jeannie T.; Sadreyev, Ruslan Ilyasovich (Public Library of Science (PLoS), 2017)
    In mammals, monoallelic gene expression can result from X-chromosome inactivation, genomic imprinting, and random monoallelic expression (RMAE). Epigenetic regulation of RMAE is not fully understood. Here we analyze allelic ...

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