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Visualitzant Articles (Departament de Medicina i Ciències de la Vida) per títol

Visualitzant Articles (Departament de Medicina i Ciències de la Vida) per títol

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  • Vilor Tejedor, Natàlia, 1988-; Genius, Patricia; Rodríguez-Fernández, Blanca; Minguillón, Carolina; Sadeghi, Iman; González-Escalante, Armand; Crous-Bou, Marta; Suárez-Calvet, Marc; Grau-Rivera, Oriol; Brugulat Serrat, Anna, 1986-; Sánchez Benavides, Gonzalo; Esteller, Manel; Fauria, Karine; Molinuevo, José Luis; Navarro i Cuartiellas, Arcadi, 1969-; Gispert López, Juan Domingo; Alzheimer’s Disease Neuroimaging Initiative; ALFA Study (Wiley, 2023)
    Introduction: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive ...
  • Renom, Pere; Dios Martínez, Toni de, 1994-; Civit, Sergi; Llovera Nadal, Laia; Sánchez-Gracia, Alejandro; Lizano González, Esther, 1974-; Rando, Juan Carlos; Marquès i Bonet, Tomàs, 1975-; Kergoat, Gael J.; Casanovas-Vilar, Isaac; Lalueza Fox, Carles, 1965- (Royal Society, 2021)
    Evolution of vertebrate endemics in oceanic islands follows a predictable pattern, known as the island rule, according to which gigantism arises in originally small-sized species and dwarfism in large ones. Species of ...
  • Batlle Masó, Laura, 1993-; Mensa Vilaró, Anna; Solís Moruno, Manuel, 1993-; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Elsevier, 2020)
    Autoinflammatory diseases comprise a wide range of syndromes caused by dysregulation of the innate immune response. They are difficult to diagnose due to their phenotypic heterogeneity and variable expressivity. Thus, the ...
  • Chen, Lu; Garrido Martín, Diego, 1992-; Guigó Serra, Roderic; Soranzo, Nicole (Elsevier, 2016)
    Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic ...
  • Aguet, François; Guigó Serra, Roderic; Montgomery, Stephen B.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue ...
  • Haber, Marc, 1980-; Mezzavilla, Massimo; Xue, Yali; Comas, David, 1969-; Gasparini, Paolo; Zalloua, Pierre A.; Tyler-Smith, Chris (Nature Publishing Group, 2015)
    The Armenians are a culturally isolated population who historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus, but remain under-represented in genetic studies and have ...
  • Mandage, Rajendra, 1984-; Telford, Marco, 1984-; Rodríguez, Juan Antonio; Farré, Xavier; Layouni, Hafid; Marigorta, Urko M.; Cundiff, Caitlin; Heredia Genestar, José María, 1985-; Navarro i Cuartiellas, Arcadi, 1969-; Santpere Baró, Gabriel, 1981- (Public Library of Science (PLoS), 2017)
    Epstein-Barr virus (EBV), human herpes virus 4, has been classically associated with infectious mononucleosis, multiple sclerosis and several types of cancers. Many of these diseases show marked geographical differences ...
  • Kushniarevich, Alena; Genographic Consortium; Bertranpetit, Jaume, 1952-; Balanovsky, Oleg (Public Library of Science (PLoS), 2015)
    The Slavic branch of the Balto-Slavic sub-family of Indo-European languages underwent rapid divergence as a result of the spatial expansion of its speakers from Central-East Europe, in early medieval times. This expansion–mainly ...
  • Bekada, Asmahan; Arauna, Lara R; Deba, Tahria; Calafell i Majó, Francesc; Benhamamouch, Soraya; Comas, David, 1969- (Public Library of Science (PLoS), 2015)
    The demographic history of human populations in North Africa has been characterized by complex processes of admixture and isolation that have modeled its current gene pool. Diverse genetic ancestral components with different ...
  • Reich, David; Marquès i Bonet, Tomàs, 1975-; Pääbo, Svante (Nature Publishing Group, 2010)
    Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a common origin ...
  • Vilor Tejedor, Natàlia, 1988-; Evans, Tavia E.; Adams, Hieab H.; González de Echávarri, José Maria; Molinuevo, José Luis; Guigó Serra, Roderic; Gispert López, Juan Domingo; Operto, Grégory (Wolters Kluwer (LWW), 2021)
    There is clear evidence that hippocampal subfield volumes have partly distinct genetic determinants associated with specific biological processes. The identification of genetic correlates of hippocampal subfield volumes ...
  • Aguadé Gorgorió, Guim, 1991-; Solé Vicente, Ricard, 1962- (BioMed Central, 2019)
    Background: Genetic instability is known to relate with carcinogenesis by providing tumors with a mechanism for fast adaptation. However, mounting evidence also indicates causal relation between genetic instability and ...
  • García Reyero, Júlia; Martínez Magunacelaya, Nerea; González de Villambrosía, Sonia; Loghavi, Sanam; Gómez Mediavilla, Ángela; Tonda, Raúl; Beltran, Sergi; Gut, Marta; Pereña González, Ainara; d'Ámore, Emanuele; Visco, Carlo; Khoury, Joseph D.; Montes-Moreno, Santiago (Ferrata Storti Foundation, 2020)
    Plasmablastic lymphoma mutational profile is undescribed. Here we performed a targeted exonic NGS analysis of 30 plasmablastic lymphoma cases with a B cell lymphoma dedicated panel and FISH for the detection of MYC ...
  • de Valles-Ibáñez, Guillem; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Luisi, Pierre, 1985-; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran (Oxford University Press, 2016)
    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species ...
  • Mendizábal Eceizabarrena, Isabel, 1981-; Sandoval Mendoza, Karla; Berniell Lee, Gemma; Calafell i Majó, Francesc; Salas, Antonio; Martínez Fuentes, Antonio; Comas, David, 1969- (BioMed Central, 2008)
    Background: Before the arrival of Europeans to Cuba, the island was inhabited by two Native American groups, the Tainos and the Ciboneys. Most of the present archaeological, linguistic and ancient DNA evidence indicates a ...
  • Flores Bello, André, 1992-; Bauduer, Frédéric; Salaberria, Jasone; Oyharçabal, Bernard; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952-; Quintana Murci, Lluis; Comas, David, 1969- (Elsevier, 2021)
    Basques have historically lived along the Western Pyrenees, in the Franco-Cantabrian region, straddling the current Spanish and French territories. Over the last decades, they have been the focus of intense research due ...
  • Ciampa, Iacopo; Operto, Grégory; Falcón, Carles; Minguillón, Carolina; Castro de Moura, Manuel; Piñeyro, David; Esteller, Manel; Molinuevo, José Luis; Guigó Serra, Roderic; Navarro i Cuartiellas, Arcadi, 1969-; Gispert López, Juan Domingo; Vilor Tejedor, Natàlia, 1988-; ALFA Study (MDPI, 2021)
    This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and ...
  • Wang, Congrong; Alfano, Rossella; Reimann, Brigitte; Hogervorst, Janneke; Bustamante Pineda, Mariona; De Vivo, Immaculata; Plusquin, Michelle; Nawrot, Tim S.; Martens, Dries S. (Frontiers, 2022)
    Telomere length at birth determines later life telomere length and potentially predicts ageing-related diseases. However, the genetic and epigenetic settings of telomere length in newborns have not been analyzed. In addition, ...
  • Kalaydjieva, Luba; Gresham, David; Calafell i Majó, Francesc (BioMed Central, 2001)
    Background: Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder ...
  • Abulí, Anna; Castells, Antoni; Bujanda, Luis; Lozano, Juan José; Bessa Caserras, Xavier; Hernández Rodríguez, Cristina; Alvarez Urturi, Cristina; Pellisé, Maria; Esteban Jurado, Clara; Hijona, Elizabeth; Buron Pust, Andrea; Macià Guilà, Francesc Assís; Grau, Jaume; Guayta, Rafael; Castellví Bel, Sergi; Andreu García, Montserrat; PROCOLON research group (Public Library of Science, 2016)
    BACKGROUND: Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk. AIM: To determine if these genetic variants are associated also with adenoma susceptibility and may improve ...

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