Search Results - "Valdés Mas, Rafael"

Personalized microbiome-driven effects of non-nutritive sweeteners on human glucose tolerance by Suez, Jotham, Cohen, Yotam, Valdés-Mas, Rafael, Mor, Uria, Dori-Bachash, Mally, Federici, Sara, Zmora, Niv, Leshem, Avner, Heinemann, Melina, Linevsky, Raquel, Zur, Maya, Ben-Zeev Brik, Rotem, Bukimer, Aurelie, Eliyahu-Miller, Shimrit, Metz, Alona, Fischbein, Ruthy, Sharov, Olga, Malitsky, Sergey, Itkin, Maxim, Stettner, Noa, Harmelin, Alon, Shapiro, Hagit, Stein-Thoeringer, Christoph K, Segal, Eran, Elinav, Eran

“…Non-nutritive sweeteners (NNS) are commonly integrated into human diet and presumed to be inert; however, animal studies suggest that they may impact the…”
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Dimensionality reduction of longitudinal ’omics data using modern tensor factorizations by Mor, Uria, Cohen, Yotam, Valdés-Mas, Rafael, Kviatcovsky, Denise, Elinav, Eran, Avron, Haim

“…Longitudinal ’omics analytical methods are extensively used in the evolving field of precision medicine, by enabling ‘big data’ recording and high-resolution…”
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CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D1− mantle cell lymphoma by Martín-Garcia, David, Navarro, Alba, Valdés-Mas, Rafael, Clot, Guillem, Gutiérrez-Abril, Jesús, Prieto, Miriam, Ribera-Cortada, Inmaculada, Woroniecka, Renata, Rymkiewicz, Grzegorz, Bens, Susanne, de Leval, Laurence, Rosenwald, Andreas, Ferry, Judith A., Hsi, Eric D., Fu, Kai, Delabie, Jan, Weisenburger, Dennis, de Jong, Daphne, Climent, Fina, O'Connor, Sheila J., Swerdlow, Steven H., Torrents, David, Beltran, Sergi, Espinet, Blanca, González-Farré, Blanca, Veloza, Luis, Costa, Dolors, Matutes, Estella, Siebert, Reiner, Ott, German, Quintanilla-Martinez, Leticia, Jaffe, Elaine S., López-Otín, Carlos, Salaverria, Itziar, Puente, Xose S., Campo, Elias, Beà, Sílvia

“…Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation resulting in overexpression of cyclin D1. However, a small subset of cyclin…”
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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy by Valdés-Mas, Rafael, Gutiérrez-Fernández, Ana, Gómez, Juan, Coto, Eliecer, Astudillo, Aurora, Puente, Diana A., Reguero, Julián R., Álvarez, Victoria, Morís, César, León, Diego, Martín, María, Puente, Xose S, López-Otín, Carlos

“…Mutations in different genes encoding sarcomeric proteins are responsible for 50–60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the…”
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The microbial genotoxin colibactin exacerbates mismatch repair mutations in colorectal tumors by Dougherty, Michael W., Valdés-Mas, Rafael, Wernke, Kevin M., Gharaibeh, Raad Z., Yang, Ye, Brant, Jason O., Riva, Alberto, Muehlbauer, Marcus, Elinav, Eran, Puschhof, Jens, Herzon, Seth B., Jobin, Christian

“…Certain Enterobacteriaceae strains contain a 54-kb biosynthetic gene cluster referred to as “pks” encoding the biosynthesis of a secondary metabolite,…”
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Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair by Seguí, Nuria, Mina, Leonardo B, Lázaro, Conxi, Sanz-Pamplona, Rebeca, Pons, Tirso, Navarro, Matilde, Bellido, Fernando, López-Doriga, Adriana, Valdés-Mas, Rafael, Pineda, Marta, Guinó, Elisabet, Vidal, August, Soto, José Luís, Caldés, Trinidad, Durán, Mercedes, Urioste, Miguel, Rueda, Daniel, Brunet, Joan, Balbín, Milagros, Blay, Pilar, Iglesias, Silvia, Garré, Pilar, Lastra, Enrique, Sánchez-Heras, Ana Beatriz, Valencia, Alfonso, Moreno, Victor, Pujana, Miguel Ángel, Villanueva, Alberto, Blanco, Ignacio, Capellá, Gabriel, Surrallés, Jordi, Puente, Xose S, Valle, Laura

“…Identification of genes associated with hereditary cancers facilitates management of patients with family histories of cancer. We performed exome sequencing of…”
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis by Mur, Pilar, De Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J P L, Urioste, Miguel, Puente, Xose S, Capellá, Gabriel, Valle, Laura

“…Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated…”
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Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis by Mur, Pilar, Jemth, Ann‐Sofie, Bevc, Luka, Amaral, Nuno, Navarro, Matilde, Valdés‐Mas, Rafael, Pons, Tirso, Aiza, Gemma, Urioste, Miguel, Valencia, Alfonso, Lázaro, Conxi, Moreno, Victor, Puente, Xose S., Stenmark, Pål, Warpman‐Berglund, Ulrika, Capellá, Gabriel, Helleday, Thomas, Valle, Laura

“…The causal association of NUDT1 (=MTH1) and OGG1 with hereditary colorectal cancer (CRC) remains unclear. Here, we sought to provide additional evidence for or…”
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Enhanced hemato-endothelial specification during human embryonic differentiation through developmental cooperation between AF4-MLL and MLL-AF4 fusions by Bueno, Clara, Calero-Nieto, Fernando J, Wang, Xiaonan, Valdés-Mas, Rafael, Gutiérrez-Agüera, Francisco, Roca-Ho, Heleia, Ayllon, Veronica, Real, Pedro J, Arambilet, David, Espinosa, Lluis, Torres-Ruiz, Raul, Agraz-Doblas, Antonio, Varela, Ignacio, de Boer, Jasper, Bigas, Anna, Gottgens, Bertie, Marschalek, Rolf, Menendez, Pablo

“…The t(4;11)(q21;q23) translocation is associated with high-risk infant pro-B-cell acute lymphoblastic leukemia and arises prenatally during embryonic/fetal…”
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Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine by Castellsagué, Joan, Gel, Bernat, Fernández‐Rodríguez, Juana, Llatjós, Roger, Blanco, Ignacio, Benavente, Yolanda, Pérez‐Sidelnikova, Diana, García‐del Muro, Javier, Viñals, Joan Maria, Vidal, August, Valdés‐Mas, Rafael, Terribas, Ernest, López‐Doriga, Adriana, Pujana, Miguel Angel, Capellá, Gabriel, Puente, Xose S, Serra, Eduard, Villanueva, Alberto, Lázaro, Conxi

“…Malignant peripheral nerve sheath tumors (MPNSTs) are soft‐tissue sarcomas that can arise either sporadically or in association with neurofibromatosis type 1…”
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance by Gorka Ruiz de Garibay, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S, Villanueva, Alberto, Pujana, Miguel Angel

“…Understanding the mechanisms of cancer therapeutic resistance is fundamental to improving cancer care. There is clear benefit from chemotherapy in different…”
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Common and rare variants of microRNA genes in autism spectrum disorders by Toma, Claudio, Torrico, Bàrbara, Hervás, Amaia, Salgado, Marta, Rueda, Isabel, Valdés-Mas, Rafael, Buitelaar, Jan K., Rommelse, Nanda, Franke, Barbara, Freitag, Christine, Reif, Andreas, Pérez-Jurado, Luis Alberto, Battaglia, Agatino, Mazzone, Luigi, Bacchelli, Elena, Puente, Xose S., Cormand, Bru

“…Objectives. MicroRNAs (miRNAs) are post-transcriptional regulators that have been shown to be involved in disease susceptibility. Here we explore the possible…”
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Estimation of copy number alterations from exome sequencing data by Valdés-Mas, Rafael, Bea, Silvia, Puente, Diana A, López-Otín, Carlos, Puente, Xose S

“…Exome sequencing constitutes an important technology for the study of human hereditary diseases and cancer. However, the ability of this approach to identify…”
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Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia by Jiménez, Isabel, Tazón-Vega, Bárbara, Abrisqueta, Pau, Nieto, Juan C, Bobillo, Sabela, Palacio-García, Carles, Carabia, Júlia, Valdés-Mas, Rafael, Munuera, Magdalena, Puigdefàbregas, Lluís, Parra, Genís, Esteve-Codina, Anna, Franco-Jarava, Clara, Iacoboni, Gloria, Terol, María José, García-Marco, José Antonio, Crespo, Marta, Bosch, Francesc

“…Mechanisms driving the progression of chronic lymphocytic leukemia (CLL) from its early stages are not fully understood. The acquisition of molecular changes…”
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Targeted suppression of human IBD-associated gut microbiota commensals by phage consortia for treatment of intestinal inflammation by Federici, Sara, Kredo-Russo, Sharon, Valdés-Mas, Rafael, Kviatcovsky, Denise, Weinstock, Eyal, Matiuhin, Yulia, Silberberg, Yael, Atarashi, Koji, Furuichi, Munehiro, Oka, Akihiko, Liu, Bo, Fibelman, Morine, Weiner, Iddo Nadav, Khabra, Efrat, Cullin, Nyssa, Ben-Yishai, Noa, Inbar, Dana, Ben-David, Hava, Nicenboim, Julian, Kowalsman, Noga, Lieb, Wolfgang, Kario, Edith, Cohen, Tal, Geffen, Yael Friedman, Zelcbuch, Lior, Cohen, Ariel, Rappo, Urania, Gahali-Sass, Inbar, Golembo, Myriam, Lev, Vered, Dori-Bachash, Mally, Shapiro, Hagit, Moresi, Claudia, Cuevas-Sierra, Amanda, Mohapatra, Gayatree, Kern, Lara, Zheng, Danping, Nobs, Samuel Philip, Suez, Jotham, Stettner, Noa, Harmelin, Alon, Zak, Naomi, Puttagunta, Sailaja, Bassan, Merav, Honda, Kenya, Sokol, Harry, Bang, Corinna, Franke, Andre, Schramm, Christoph, Maharshak, Nitsan, Sartor, Ryan Balfour, Sorek, Rotem, Elinav, Eran

“…Human gut commensals are increasingly suggested to impact non-communicable diseases, such as inflammatory bowel diseases (IBD), yet their targeted suppression…”
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Healthspan and lifespan extension by fecal microbiota transplantation into progeroid mice by Bárcena, Clea, Valdés-Mas, Rafael, Mayoral, Pablo, Garabaya, Cecilia, Durand, Sylvère, Rodríguez, Francisco, Fernández-García, María Teresa, Salazar, Nuria, Nogacka, Alicja M., Garatachea, Nuria, Bossut, Noélie, Aprahamian, Fanny, Lucia, Alejandro, Kroemer, Guido, Freije, José M. P., Quirós, Pedro M., López-Otín, Carlos

“…The gut microbiome is emerging as a key regulator of several metabolic, immune and neuroendocrine pathways 1 , 2 . Gut microbiome deregulation has been…”
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Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes by Nadeu, Ferran, Martin-Garcia, David, Clot, Guillem, Díaz-Navarro, Ander, Duran-Ferrer, Martí, Navarro, Alba, Vilarrasa-Blasi, Roser, Kulis, Marta, Royo, Romina, Gutiérrez-Abril, Jesús, Valdés-Mas, Rafael, López, Cristina, Chapaprieta, Vicente, Puiggros, Montserrat, Castellano, Giancarlo, Costa, Dolors, Aymerich, Marta, Jares, Pedro, Espinet, Blanca, Muntañola, Ana, Ribera-Cortada, Inmaculada, Siebert, Reiner, Colomer, Dolors, Torrents, David, Gine, Eva, López-Guillermo, Armando, Küppers, Ralf, Martin-Subero, Jose I., Puente, Xose S., Beà, Sílvia, Campo, Elias

“…Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic…”
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Non-coding recurrent mutations in chronic lymphocytic leukaemia by Puente, Xose S., Beà, Silvia, Valdés-Mas, Rafael, Villamor, Neus, Gutiérrez-Abril, Jesús, Martín-Subero, José I., Munar, Marta, Rubio-Pérez, Carlota, Jares, Pedro, Aymerich, Marta, Baumann, Tycho, Beekman, Renée, Belver, Laura, Carrio, Anna, Castellano, Giancarlo, Clot, Guillem, Colado, Enrique, Colomer, Dolors, Costa, Dolors, Delgado, Julio, Enjuanes, Anna, Estivill, Xavier, Ferrando, Adolfo A., Gelpí, Josep L., González, Blanca, González, Santiago, González, Marcos, Gut, Marta, Hernández-Rivas, Jesús M., López-Guerra, Mónica, Martín-García, David, Navarro, Alba, Nicolás, Pilar, Orozco, Modesto, Payer, Ángel R., Pinyol, Magda, Pisano, David G., Puente, Diana A., Queirós, Ana C., Quesada, Víctor, Romeo-Casabona, Carlos M., Royo, Cristina, Royo, Romina, Rozman, María, Russiñol, Nuria, Salaverría, Itziar, Stamatopoulos, Kostas, Stunnenberg, Hendrik G., Tamborero, David, Terol, María J., Valencia, Alfonso, López-Bigas, Nuria, Torrents, David, Gut, Ivo, López-Guillermo, Armando, López-Otín, Carlos, Campo, Elías

“…Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully…”
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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance by Bellido, Fernando, Pineda, Marta, Aiza, Gemma, Valdés-Mas, Rafael, Navarro, Matilde, Puente, Diana A., Pons, Tirso, González, Sara, Iglesias, Silvia, Darder, Esther, Piñol, Virginia, Soto, José Luís, Valencia, Alfonso, Blanco, Ignacio, Urioste, Miguel, Brunet, Joan, Lázaro, Conxi, Capellá, Gabriel, Puente, Xose S., Valle, Laura

“…Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here,…”
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Signatures of mutational processes in human cancer by Alexandrov, Ludmil B., Nik-Zainal, Serena, Wedge, David C., Aparicio, Samuel A. J. R., Behjati, Sam, Biankin, Andrew V., Bignell, Graham R., Bolli, Niccolò, Borg, Ake, Børresen-Dale, Anne-Lise, Boyault, Sandrine, Burkhardt, Birgit, Butler, Adam P., Caldas, Carlos, Davies, Helen R., Desmedt, Christine, Eils, Roland, Eyfjörd, Jórunn Erla, Foekens, John A., Greaves, Mel, Hosoda, Fumie, Hutter, Barbara, Ilicic, Tomislav, Imbeaud, Sandrine, Imielinski, Marcin, Jäger, Natalie, Jones, David T. W., Jones, David, Knappskog, Stian, Kool, Marcel, Lakhani, Sunil R., López-Otín, Carlos, Martin, Sancha, Munshi, Nikhil C., Nakamura, Hiromi, Northcott, Paul A., Pajic, Marina, Papaemmanuil, Elli, Paradiso, Angelo, Pearson, John V., Puente, Xose S., Raine, Keiran, Ramakrishna, Manasa, Richardson, Andrea L., Richter, Julia, Rosenstiel, Philip, Schlesner, Matthias, Schumacher, Ton N., Span, Paul N., Teague, Jon W., Totoki, Yasushi, Tutt, Andrew N. J., Valdés-Mas, Rafael, van Buuren, Marit M., van ’t Veer, Laura, Vincent-Salomon, Anne, Waddell, Nicola, Yates, Lucy R., Zucman-Rossi, Jessica, Andrew Futreal, P., McDermott, Ultan, Lichter, Peter, Meyerson, Matthew, Grimmond, Sean M., Siebert, Reiner, Campo, Elías, Shibata, Tatsuhiro, Pfister, Stefan M., Campbell, Peter J., Stratton, Michael R.

“…All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic…”
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