Now showing items 4179-4198 of 10191

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      Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function 

      Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, François Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Martí Carrera, María Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie Christine; Oppermann, Ilena; Pérez Dueñas, Belén; Popp, Bernt; Rodero, Mathieu P.; Rodríguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Tomás Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. (Wiley, 2020-01)
      IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining ...
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      Genetic characterization and biofilm formation of potentially pathogenic foodborne Arcobacter isolates 

      Martínez Malax-Echevarría, Irati ORCID; Girbau, Cecilia; Baztarrika, Itsaso; Martínez Ballesteros, Ilargi ORCID; Laorden Muñoz, Lorena ORCID; Alonso Monsalve, Rodrigo; Fernández Astorga, Aurora ORCID; Salazar Sánchez, Adrián ORCID (Elsevier, 2022-07-16)
      Various species of the genus Arcobacter are regarded as emerging food pathogens and can be cause of human gastroenteric illness, among others. In order to gain knowledge on the risk associated with the presence of arcobacters ...
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      Genetic Characterization of the Local Pirenaica Cattle for Parentage and Traceability Purposes 

      Gamarra, David; Taniguchi, Masaaki; Aldai Elkoro-Iribe, Noelia; Arakawa, Aisaku; López Oceja, Andrés; Martínez de Pancorbo Gómez, María de los Angeles ORCID (MDPI, 2020-09-05)
      Pirenaica is the most important autochthonous cattle breed within the Protected Geographic Indication (PGI) beef quality label in the Basque region, in northern Spain. The short tandem repeats (STRs) are powerful markers ...
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      Genetic Contribution of Endometriosis to the Risk of Developing Hormone-Related Cancers 

      Rueda Martínez, Aintzane; Garitazelaia González, Aiara; Cilleros Portet, Ariadna ORCID; Marí Alemany, Sergi; Arauzo, Rebeca; De Miguel, Jokin; González García, Bárbara P.; Fernández Jiménez, Nora ORCID; Bilbao Catalá, José Ramón ORCID; García Santisteban, Iraia ORCID (MDPI, 2021-06-04)
      Endometriosis is a common gynecological disorder that has been associated with endometrial, breast and epithelial ovarian cancers in epidemiological studies. Since complex diseases are a result of multiple environmental ...
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      Genetic regulation of body size and morphology in children: a twin study of 22 anthropometric traits 

      Silventoinen, Karri; Maia, José Antonio; Li, Weilong; Sund, Reijo; Gouveia, Elvio; Antunes, Antonio; Marques, Gonçalo; Thomis, Martine; Jelenkovic Moreno, Aline; Kaprio, Jaakko; Freitas, Duarte L. (Nature, 2023-03)
      Background Anthropometric measures show high heritability, and genetic correlations have been found between obesity-related traits. However, we lack a comprehensive analysis of the genetic background of human body morphology ...
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      Genetic Variants and Hamstring Injury in Soccer: An Association and Validation Study 

      Larruskain Zabala, Jon; Celorrio Herrera, David; Barrio Beraza, Irantzu; Odriozola Martínez, Adrián;; Gil Orozko, Susana María ORCID; Fernandez-Lopez, Juan R; Nozal, Raul; Ortuzar Pérez, Isusko; Lekue Gallano, José Antonio ORCID; Aznar, José M. (American College of Sports Medicine, 2018-02)
      Purpose: This study aimed to investigate the association of candidate single nucleotide polymorphisms (SNP) with noncontact hamstring muscle injuries in elite soccer players and to create and validate a model to assess the ...
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      Genetic Variants as Predictors of the Success of Colorectal Cancer Treatments 

      García Etxebarria, Koldo; Etxart, Ane; Barrero, Maialen; Nafria, Beatriz; Segues Merino, Nerea Miren; Romero Garmendia, Irati; Goel, Ajay; Franke, Andre; D’Amato, Mauro; Bujanda Fernández de Pierola, Luis ORCID (MDPI, 2023-09-22)
      Some colorectal cancer (CRC) outcomes are partially associated with genetics, and different studies have proposed several genetic variants as predictors. However, analysis of their performance in other populations is ...
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      Genetic Variants Associated with Colorectal Adenoma Susceptibility 

      Abulí, Anna; Castells, Antoni; Bujanda Fernández de Pierola, Luis ORCID; Lozano, Juan José; Bessa, Xavier; Hernández, Cristina; Álvarez-Urturi, Cristina; Pellisé, María; Esteban-Jurado, Clara; Hijona Muruamendiaraz, Elizabeth; Burón, Andrea; Macià, Francesc; Grau, Jaume; Guayta, Rafael; Castellví-Bel, Sergi; Andreu, Montserrat; PROCOLON research group (PUBLIC LIBRARY SCIENCE, 2016-04-14)
      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 ...
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      Genetic Variants in MiRNA Processing Genes and Pre-MiRNAs Are Associated with the Risk of Chronic Lymphocytic Leukemia 

      Martín Guerrero, Idoia; Gutiérrez Camino, Ángela ORCID; López López, Elixabet ORCID; Bilbao Aldaiturriaga, Nerea; Pombar Gómez, María; Ardanaz, Maite; García-Orad Carles, África ORCID (Public Library Science, 2015-03-20)
      Genome wide association studies (GWAS) have identified several low-penetrance susceptibility alleles in chronic lymphocytic leukemia (CLL). Nevertheless, these studies scarcely study regions that are implicated in non-coding ...
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      Genetically modified macrophages accelerate myelin repair 

      Aigrot, Marie Stephane; Barthelemy, Clara; Moyon, Sarah; Dufayet-Chaffaud, Gaelle; Izagirre Urizar, Leire; Gillet-Legrand, Beatrix; Tada, Satoru; Bayón Cordero, Laura; Chara Ventura, Juan Carlos; Matute Almau, Carlos José; Cartier, Nathalie; Lubetzki, Catherine; Tepavcevic, Vanja (Wiley, 2022-08-08)
      [EN] Preventing neurodegeneration-associated disability progression in patients with multiple sclerosis (MS) remains an unmet therapeutic need. As remyelination prevents axonal degeneration, promoting this process in ...
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      Genetics and Epigenetics in Complex Diseases 

      López López, Elixabet ORCID (MDPI, 2023-05-03)
      ...
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      Genetics of adult attachment: An updated review of the literature 

      Erkoreka González, Leire ORCID; Zumarraga Ortiz, Mercedes; Arrue, Aurora; Zamalloa, María Isabel; Arnaiz Muñoz, Ainara; Olivas Gallego, Olga; Moreno Calle, Teresa; Sáez, Estela; García Ormaza, Jon; Marín Díaz-Guardaminio, Elena; Varela Gómez, Noemí; González Pinto Arrillaga, Ana María ORCID (Baishideng Publishing Group, 2021-09-19)
      Attachment style, which has been theorized to be rooted in childhood bonding experiences, influences adult cognitive, emotional and interpersonal functioning. Despite its relationship with early experiences, research ...
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      Genetics of Somatotype and Physical Fitness in Children and Adolescents 

      Silventoinen, Karri; Maia, José Antonio; Jelenkovic Moreno, Aline; Pereira, Sara; Gouveia, Elvio; Antunes, Antonio; Thomis, Martine; Lefevre, Johan; Kaprio, Jaakko; Freitas, Duarte L. (Wiley, 2021-05)
      Objectives To analyze the influence of genetic and environmental factors on the variation in somatotype, physical fitness, and their mutual associations. Methods Twins from 214 pairs (87 monozygotic) of the Autonomous ...
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      Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm 

      García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga Domínguez, Leire ORCID; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño González, Luis Antonio ORCID; Ariceta, Gema; RenalTube Group (Public Library of Science, 2013-09-18)
      The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
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      Gene–Diet Interactions in Colorectal Cancer: Survey Design, Instruments, Participants and Descriptive Data of a Case–Control Study in the Basque Country 

      Alegría Lertxundi, Iker; Aguirre Gómez, Carmelo; Bujanda Fernández de Pierola, Luis ORCID; Fernández Pablos, Francisco Javier; Polo, Francisco; Ordovás, José María; Etxezarraga Zuluaga, María Carmen; Zabalza Estévez, Ignacio; Larzabal, Mikel; Portillo Villares, María Isabel; Martínez de Pancorbo Gómez, María de los Angeles ORCID; Palencia Madrid, Leire ORCID; García Etxebarria, Koldo; Rocandio Pablo, Ana María ORCID; Arroyo Izaga, Marta (MDPI, 2020)
      Epidemiologic studies have revealed inconsistent evidence of gene-diet interaction in relation to colorectal cancer (CRC). The aim of this study was to analyze them in a sample of cases and controls from the population-based ...
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      El genio de un solo ojo, I: en la mitología griega, Polifemo 

      Redondo Moyano, Elena ORCID (Levante Editori, 1997)
      En este trabajo se estudia la figura de Polifemo, el hijo de Poseidón y la ninfa Toosa, como ejemplo de las sucesivas reinterpretaciones que la mitología griega hacía de temas populares que resultaban de su interés: se ...
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      El genio de un solo ojo, II: en la mitología vasca, Tártaro 

      Redondo Moyano, Elena ORCID (Levante Editori, 2002)
      En la mitología vasca existen numerosas narraciones cuyo protagonista presenta rasgos de similitud con el Polifemo de la mitología griega. En este trabajo se recopilan y analizan las diferentes populares o legendarias en ...
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      Genome of Pesxtera Muierii skull shows high diversity and low mutational load in pre-glacial Europe 

      Svensson, Emma; Günther, Torsten; Hoischen, Alexander; Hervella Afonso, Montserrat ORCID; Munters, Arielle R.; Ioana, Mihai; Ridiche, Florin; Edlund, Hanna; Van Deuren, Rosanne C.; Soficaru, Andrei; De la Rúa Vaca, Concepción ORCID; Netea, Mihai G.; Jakobsson, Mattias (Elsevier, 2021-07-26)
      Few complete human genomes from the European Early Upper Palaeolithic (EUP) have been sequenced. Using novel sampling and DNA extraction approaches, we sequenced the genome of a woman from "Pesxtera Muierii,"Romania who ...
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      Genome of Peștera Muierii skull shows high diversity and low mutational load in pre-glacial Europe 

      Svensson, Emma; Günther, Torsten; Hoischen, Alexander; Hervella Afonso, Montserrat ORCID; Munters, Arielle R.; Ioana, Mihai; Ridiche, Florin; Edlund, Hanna; Van Deuren, Rosanne C.; Soficaru, Andrei Dorian; De la Rúa Vaca, Concepción ORCID; Netea, Mihai G.; Jakobsson, Mattias (Elsevier, 2021-07-26)
      [EN] Few complete human genomes from the European Early Upper Palaeolithic (EUP) have been sequenced. Using novel sampling and DNA extraction approaches, we sequenced the genome of a woman from ‘‘Pesxtera Muierii,’’ ...
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      Genome sequence and characterization of the bcs clusters for the production of nanocellulose from the low pH resistant strain Komagataeibacter medellinensis ID13488 

      Hernández‐Arriaga, Ana M.; Del Cerro, Carlos; Urbina Moreno, Leire; Eceiza Mendiguren, María Aranzazu; Corcuera Maeso, María Ángeles; Retegui Miner, Aloña; Prieto, M. Auxiliadora (Wiley, 2019-02-22)
      Komagataeibacter medellinensis ID13488 (formerly Gluconacetobacter medellinensis ID13488) is able to produce crystalline bacterial cellulose (BC) under high acidic growth conditions. These abilities make this strain desirable ...