Browsing Center for Genomic Regulation (CRG) by Title

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  • Validating a breast cancer score in Spanish women. The MCC-Spain study
    Dierssen Sotos, Trinidad; Bustamante Pineda, Mariona; Vinyals, G.C.; Kogevinas, Manolis; Llorca, Javier (Nature Research, 2018)
    A breast-risk score, published in 2016, was developed in white-American women using 92 genetic variants (GRS92), modifiable and non-modifiable risk factors. With the aim of validating the score in the Spanish population, ...
  • Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence
    Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva, Meritxell; Izquierdo, David; Giner Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander, 1978-; Capilla, Laia; Ruiz Herrera, Aurora; Estivill, Xavier, 1955-; Puig, Marta; Cáceres Aguilar, Mario (Public Library of Science (PLoS), 2014)
    In recent years different types of structural variants (SVs) have been discovered in the human genome and their functional impact has become increasingly clear. Inversions, however, are poorly characterized and more difficult ...
  • Validation of semaphorin 7A and ala-beta-his-dipeptidase as biomarkers associated with the conversion from clinically isolated syndrome to multiple sclerosis
    Cantó, Ester; Tintoré, Mar; Villar, Luisa Maria; Borrás, Eva; Álvarez Cermeño, Jose Carlos; Chiva, Cristina; Sabidó Aguadé, Eduard, 1981-; Rovira, Alex; Montalbán Gairín, Xavier; Comabella López, Manuel (BioMed Central, 2014)
    Background: In a previous proteomics study using pooled cerebrospinal fluid (CSF) samples, we proposed apolipoprotein AI, apolipoprotein AIV, vitronectin, plasminogen, semaphorin 7A, and ala-?-his-dipeptidase as candidate ...
  • VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
    Musacchia, Francesco; Karali, Marianthi; Torella, Annalaura; Laurie, Steven, 1973-; Policastro, Valeria; Pizzo, Mariateresa; Beltran, Sergi; Casari, Giorgio; Nigro, Vincenzo; Banfi, Sandro (MDPI, 2021)
    Homozygous deletions (HDs) may be the cause of rare diseases and cancer, and their discovery in targeted sequencing is a challenging task. Different tools have been developed to disentangle HD discovery but a sensitive ...
  • Variability in porcine microRNA genes and its association with mRNA expression and lipid phenotypes
    Mármol-Sánchez, Emilio; Luigi-Sierra, María Gracia; Castelló, Anna; Guan, Dailu; Quintanilla, Raquel; Tonda, Raúl; Amills, Marcel (BioMed Central, 2021)
    Background: Mature microRNAs (miRNAs) play an important role in repressing the expression of a wide range of mRNAs. The presence of polymorphic sites in miRNA genes and their corresponding 3'UTR binding sites can disrupt ...
  • Variability of multi-omics profiles in a population-based child cohort
    Gallego-Paüls, Marta; Hernández-Ferrer, Carles; Bustamante Pineda, Mariona; Basagaña Flores, Xavier; Barrera Gómez, Jose; Vives Usano, Marta, 1990-; Ruiz Arenas, Carlos, 1990-; Casas Sanahuja, Maribel; Borràs, Eva; Sabidó Aguadé, Eduard, 1981-; Estivill, Xavier, 1955-; Urquiza, José M.; González, Juan Ramón; Vrijheid, Martine; Maitre, Léa (BioMed Central, 2021)
    Background: Multiple omics technologies are increasingly applied to detect early, subtle molecular responses to environmental stressors for future disease risk prevention. However, there is an urgent need for further ...
  • Variation in predicted COVID-19 risk among lemurs and lorises
    Melin, Amanda D.; Orkin, Joseph D.; Valenzuela, Alejandro; Gut, Ivo Glynne; Gut, Marta; Lizano González, Esther, 1974-; Marquès i Bonet, Tomàs, 1975-; Navarro i Cuartiellas, Arcadi, 1969-; Juan, David; Higham, James P. (Wiley, 2021)
    The novel coronavirus SARS-CoV-2, which in humans leads to the disease COVID-19, has caused global disruption and more than 2 million fatalities since it first emerged in late 2019. As we write, infection rates are at their ...
  • VarQ: a tool for the structural and functional analysis of human protein variants
    Radusky, Leandro; Modenutti, Carlos; Delgado Blanco, Javier; Bustamante, Juan P.; Vishnopolska, Sebastian; Kiel, Christina; Serrano Pubull, Luis, 1982-; Marti, Marcelo; Turjanski, Adrián (Frontiers, 2018)
    Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. ...
  • VAV3 mediates resistance to breast cancer endocrine therapy
    Aguilar, Helena; Caizzi, Livia; Di Croce, Luciano; Pujana, Miguel Angel (BioMed Central, 2014)
    Introduction: Endocrine therapies targeting cell proliferation and survival mediated by estrogen receptor α (ERα) are among the most effective systemic treatments for ERα-positive breast cancer. However, most tumors initially ...
  • ViceCT and whiceCT for simultaneous high-resolution visualization of craniofacial, brain and ventricular anatomy from micro-computed tomography
    Llambrich, Sergi; Wouters, Jens; Himmelreich, Uwe; Dierssen, Mara; Sharpe, James; Gsell, Willy; Martínez Abadías, Neus; Velde, Greetje Vande (Nature Research, 2020)
    Up to 40% of congenital diseases present disturbances of brain and craniofacial development resulting in simultaneous alterations of both systems. Currently, the best available method to preclinically visualize the brain ...
  • Virtual meeting, real and sound science: report of the 17 th Meeting of the Spanish Society for Developmental Biology (SEBD-2020)
    Araújo, Sofia J.; Almudi, Isabel; Bozal-Basterra, Laura; Casares, Fernando; Casas-Tintó, Sergio; Escalante, Augusto; García-Moreno, Fernando; Losada-Pérez, María; Maeso, Ignacio; Marcon, Luciano, 1983-; Ocaña, Oscar; Pampliega, Olatz; Rada-Iglesias, Álvaro; Rayon, Teresa; Sharpe, James; Sutherland, James D.; Villa del Campo, Cristina; Barrio, Rosario (UPV/EHU Press, 2021)
    The Spanish Society for Developmental Biology (SEBD) organized its 17th meeting in November 2020 (herein referred to as SEBD2020). This meeting, originally programmed to take place in the city of Bilbao, was forced onto ...
  • Visualizing GO Annotations
    Supek, Fran; Škunca, Nieves (Springer, 2017)
    Contemporary techniques in biology produce readouts for large numbers of genes simultaneously, the typical example being differential gene expression measurements. Moreover, those genes are often richly annotated using GO ...
  • Visualizing the genome in high resolution challenges our textbook understanding
    Lakadamyali, Melike; Cosma, Maria Pia, 1970- (Nature Research, 2020)
    The relationship between the 4D folding of the genome and its function is an outstanding question in biology. A range of methods that probe the folding of the genome in space and time with unprecedented resolution have ...
  • Vitellogenins - yolk gene function and regulation in Caenorhabditis elegans
    Perez, Marcos Francisco, 1987-; Lehner, Ben, 1978- (Frontiers, 2019)
    Vitellogenins are a family of yolk proteins that are by far the most abundant among oviparous animals. In the model nematode Caenorhabditis elegans, the 6 vitellogenins are among the most highly expressed genes in the adult ...
  • VNTR-DAT1 and COMTVal158Met Genotypes Modulate Mental Flexibility and Adaptive Behavior Skills in Down Syndrome
    Del Hoyo Soriano, Laura; Xicota Vila, Laura, 1987-; Langohr, Klaus; Sánchez Benavides, Gonzalo; Sola Llopis, Susana de; Cuenca Royo, Aida Ma, 1981-; Rodríguez, Joan; Rodríguez-Morató, Jose, 1987-; Farré Albaladejo, Magí; Dierssen, Mara; Torre Fornell, Rafael de la; The TESDAD Study Group (Frontiers, 2016)
    Down syndrome (DS) is an aneuploidy syndrome that is caused by trisomy for human chromosome 21 resulting in a characteristic cognitive and behavioral phenotype, which includes executive functioning and adaptive behavior ...
  • Volumetric imaging of fast cellular dynamics with deep learning enhanced bioluminescence microscopy
    Morales-Curiel, Luis Felipe; Gonzalez, Adriana Carolina; Castro-Olvera, Gustavo; Lin, Li-Chun Lynn; El-Quessny, Malak; Porta-de-la-Riva, Montserrat; Severino, Jacqueline, 1990-; Batlle Masó, Laura, 1993-; Venturini, Valeria; Ruprecht, Verena; Ramallo, Diego; Loza-Alvarez, Pablo; Krieg, Michael (Nature Research, 2022)
    Bioluminescence microscopy is an appealing alternative to fluorescence microscopy, because it does not depend on external illumination, and consequently does neither produce spurious background autofluorescence, nor perturb ...
  • Walking along chromosomes with super-resolution imaging, contact maps, and integrative modeling
    Nir, Guy; Farabella, Irene; Soler-Vila, Paula; Martí Renom, Marc A.; Wu, Chun-Ting (Public Library of Science (PLoS), 2018)
    Chromosome organization is crucial for genome function. Here, we present a method for visualizing chromosomal DNA at super-resolution and then integrating Hi-C data to produce three-dimensional models of chromosome ...
  • WEScover: selection between clinical whole exome sequencing and gene panel testing
    Lee, In-Hee; Lin, Yufei; Jefferson Alvarez, William; Hernandez-Ferrer, Carles, 1987-; Mandl, Kenneth D.; Kong, Sek Won (BioMed Central, 2021)
    Background: Whole exome sequencing (WES) is widely adopted in clinical and research settings; however, one of the practical concerns is the potential false negatives due to incomplete breadth and depth of coverage for ...
  • What is targeted proteomics? A concise revision of targeted acquisition and targeted data analysis in mass spectrometry
    Borràs, Eva; Sabidó Aguadé, Eduard, 1981- (Wiley, 2017)
    Targeted proteomics has gained significant popularity in mass spectrometry-based protein quantification as a method to detect proteins of interest with high sensitivity, quantitative accuracy and reproducibility. However, ...
  • Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders
    De Toma, Ilario; Manubens-Gil, Linus, 1989-; Ossowski, Stephan; Dierssen, Mara (Hindawi, 2016)
    One of the most challenging questions in neuroscience is to dissect how learning and memory, the foundational pillars of cognition, are grounded in stable, yet plastic, gene expression states. All known epigenetic mechanisms ...

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