Search Results - "Puente, Diana A"

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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Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome by Puente, Xose S., Quesada, Victor, Osorio, Fernando G., Cabanillas, Rubén, Cadiñanos, Juan, Fraile, Julia M., Ordóñez, Gonzalo R., Puente, Diana A., Gutiérrez-Fernández, Ana, Fanjul-Fernández, Miriam, Lévy, Nicolas, Freije, José M.P., López-Otín, Carlos

“…Accelerated aging syndromes represent a valuable source of information about the molecular mechanisms involved in normal aging. Here, we describe a progeroid…”
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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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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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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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Landscape of somatic mutations and clonal evolution in mantle cell lymphoma by Beà, Sílvia, Valdés-Mas, Rafael, Navarro, Alba, Salaverria, Itziar, Martín-Garcia, David, Jares, Pedro, Giné, Eva, Pinyol, Magda, Royo, Cristina, Nadeu, Ferran, Conde, Laura, Juan, Manel, Clot, Guillem, Vizán, Pedro, Di Croce, Luciano, Puente, Diana A., López-Guerra, Mónica, Moros, Alexandra, Roue, Gael, Aymerich, Marta, Villamor, Neus, Colomo, Lluís, Martínez, Antonio, Valera, Alexandra, Martín-Subero, José I., Amador, Virginia, Hernández, Luis, Rozman, Maria, Enjuanes, Anna, Forcada, Pilar, Muntañola, Ana, Hartmann, Elena M., Calasanz, María J., Rosenwald, Andreas, Ott, German, Hernández-Rivas, Jesús M., Klapper, Wolfram, Siebert, Reiner, Wiestner, Adrian, Wilson, Wyndham H., Colomer, Dolors, López-Guillermo, Armando, López-Otín, Carlos, Puente, Xose S., Campo, Elías

“…Mantle cell lymphoma (MCL) is an aggressive tumor, but a subset of patients may follow an indolent clinical course. To understand the mechanisms underlying…”
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Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemia by Bretones, Gabriel, Álvarez, Miguel G., Arango, Javier R., Rodríguez, David, Nadeu, Ferran, Prado, Miguel A., Valdés-Mas, Rafael, Puente, Diana A., Paulo, Joao A., Delgado, Julio, Villamor, Neus, López-Guillermo, Armando, Finley, Daniel J., Gygi, Steven P., Campo, Elías, Quesada, Víctor, López-Otín, Carlos

“…Genomic studies have recently identified RPS15 as a new driver gene in aggressive and chemorefractory cases of chronic lymphocytic leukemia (CLL). RPS15…”
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Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes by Marques, Patrícia Isabel, Fonseca, Filipa, Carvalho, Ana Sofia, Puente, Diana A, Damião, Isabel, Almeida, Vasco, Barros, Nuno, Barros, Alberto, Carvalho, Filipa, Azkargorta, Mikel, Elortza, Felix, Osório, Hugo, Matthiesen, Rune, Quesada, Victor, Seixas, Susana

“…Are kallikreins (KLKs), the whey-acidic-protein four-disulfide core domain (WFDCs) and their neighbors, semenogelins (SEMGs), known to play a role in the…”
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Transplacental transfer of essential thrombocythemia in monozygotic twins by Valdés-Mas, Rafael, Gutiérrez-Abril, Jesús, Pitiot, Ana S., Santamaría, Iñigo, Puente, Diana A., Muñiz Lobato, Sara, Balbín, Milagros, Puente, Xose S.

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Tumor xenograft modeling identifies TCF4/ITF2 loss associated with breast cancer chemoresistance by de Garibay, Gorka Ruiz, 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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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome by Bárcena, Clea, Quesada, Víctor, De Sandre-Giovannoli, Annachiara, Puente, Diana A, Fernández-Toral, Joaquín, Sigaudy, Sabine, Baban, Anwar, Lévy, Nicolas, Velasco, Gloria, López-Otín, Carlos

“…SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger…”
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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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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia by Puente, Xose S., Pinyol, Magda, Quesada, Víctor, Conde, Laura, Ordóñez, Gonzalo R., Villamor, Neus, Escaramis, Georgia, Jares, Pedro, Beà, Sílvia, González-Díaz, Marcos, Bassaganyas, Laia, Baumann, Tycho, Juan, Manel, López-Guerra, Mónica, Colomer, Dolors, Tubío, José M. C., López, Cristina, Navarro, Alba, Tornador, Cristian, Aymerich, Marta, Rozman, María, Hernández, Jesús M., Puente, Diana A., Freije, José M. P., Velasco, Gloria, Gutiérrez-Fernández, Ana, Costa, Dolors, Carrió, Anna, Guijarro, Sara, Enjuanes, Anna, Hernández, Lluís, Yagüe, Jordi, Nicolás, Pilar, Romeo-Casabona, Carlos M., Himmelbauer, Heinz, Castillo, Ester, Dohm, Juliane C., de Sanjosé, Silvia, Piris, Miguel A., de Alava, Enrique, Miguel, Jesús San, Royo, Romina, Gelpí, Josep L., Torrents, David, Orozco, Modesto, Pisano, David G., Valencia, Alfonso, Guigó, Roderic, Bayés, Mónica, Heath, Simon, Gut, Marta, Klatt, Peter, Marshall, John, Raine, Keiran, Stebbings, Lucy A., Futreal, P. Andrew, Stratton, Michael R., Campbell, Peter J., Gut, Ivo, López-Guillermo, Armando, Estivill, Xavier, Montserrat, Emili, López-Otín, Carlos, Campo, Elías

“…Leukaemia-linked gene mutations Analysis of the genomes of four patients with chronic lymphocytic leukaemia, and validation in more than 300 patients, has…”
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Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia by Quesada, Víctor, Conde, Laura, Villamor, Neus, Ordóñez, Gonzalo R, Jares, Pedro, Bassaganyas, Laia, Ramsay, Andrew J, Beà, Sílvia, Pinyol, Magda, Martínez-Trillos, Alejandra, López-Guerra, Mónica, Colomer, Dolors, Navarro, Alba, Baumann, Tycho, Aymerich, Marta, Rozman, María, Delgado, Julio, Giné, Eva, Hernández, Jesús M, González-Díaz, Marcos, Puente, Diana A, Velasco, Gloria, Freije, José M P, Tubío, José M C, Royo, Romina, Gelpí, Josep L, Orozco, Modesto, Pisano, David G, Zamora, Jorge, Vázquez, Miguel, Valencia, Alfonso, Himmelbauer, Heinz, Bayés, Mónica, Heath, Simon, Gut, Marta, Gut, Ivo, Estivill, Xavier, López-Guillermo, Armando, Puente, Xose S, Campo, Elías, López-Otín, Carlos

“…Carlos López-Otín, Elías Campo and colleagues report exome sequencing of tumor and normal samples from 105 individuals with chronic lymphocytic leukemia (CLL)…”
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance by Ruiz de Garibay, Gorka, Mateo, Francesca, Stradella, Agostina, Valdés Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas Parra, Gardenía María, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal-Bel, August, Petit, Anna, Soler, María Teresa, Lázaro García, Conxi, Puente, Xose S, Villanueva Garatachea, Alberto, Pujana Genestar, M. Ángel

“…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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Transplacental transfer of essential thrombocythemia in monozygotic twins by Valdés-Mas, Rafael, Gutiérrez-Abril, Jesús, Pitiot, Ana S, Santamaría, Iñigo, Puente, Diana A, Muñiz Lobato, Sara, Balbín, Milagros, Puente, Xose S

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