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101. The IGLV3-21R110 Defines a Subset of Chronic Lymphocytic Leukemia with Intermediate Epigenetic Subtype and Poor Outcome

Author

Nadeu, Ferran, primary, Royo, Romina, additional, Clot, Guillem, additional, Duran-Ferrer, Martí, additional, Navarro, Alba, additional, Martín, Silvia, additional, Lu, Junyan, additional, Zenz, Thorsten, additional, Baumann, Tycho, additional, Jares, Pedro, additional, Puente, Xose S, additional, Martin-Subero, Jose Ignacio, additional, Delgado, Julio, additional, and Campo, Elias, additional

Published
2020
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103. TP53 mutation and tumoral PD-L1 expression are associated with depth of invasion in desmoplastic melanomas

Author

Alos, Llucia, primary, Fuster, Carla, additional, Castillo, Paola, additional, Jares, Pedro, additional, Garcia-Herrera, Adriana, additional, Marginet, Marta, additional, Agreda, Fernando, additional, Arance, Ana, additional, Gonzalvo, Elena, additional, Garcia, Mireia, additional, Puig, Susana, additional, and Teixido, Cristina, additional

Published
2020
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104. Usefulness of Two Independent DNA and RNA Tissue-Based Multiplex Assays for the Routine Care of Advanced NSCLC Patients

Author

Marin, Elba, primary, Teixido, Cristina, additional, Carmona-Rocha, Elena, additional, Reyes, Roxana, additional, Arcocha, Ainara, additional, Viñolas, Nuria, additional, Rodríguez-Mues, MªCarmen, additional, Cabrera, Carlos, additional, Sánchez, Marcelo, additional, Vollmer, Ivan, additional, Castillo, Sergi, additional, Muñoz, Silvia, additional, Sullivan, Ivana G., additional, Rodriguez, Adela, additional, Garcia, Mireia, additional, Alos, Silvia, additional, Jares, Pedro, additional, Martinez, Antonio, additional, Prat, Aleix, additional, Molina-Vila, Miguel Ángel, additional, and Reguart, Noemi, additional

Published
2020
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106. The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome

Author

Duran-Ferrer, Martí, primary, Clot, Guillem, additional, Nadeu, Ferran, additional, Beekman, Renée, additional, Baumann, Tycho, additional, Nordlund, Jessica, additional, Marincevic-Zuniga, Yanara, additional, Lönnerholm, Gudmar, additional, Rivas-Delgado, Alfredo, additional, Martin, Silvia, additional, Ordoñez, Raquel, additional, Castellano, Giancarlo, additional, Kulis, Marta, additional, Queirós, Ana, additional, Seung-Tae, Lee, additional, Wiemels, Joseph, additional, Royo, Romina, additional, Puiggrós, Montserrat, additional, Lu, Junyan, additional, Gine, Eva, additional, Beà, Sílvia, additional, Jares, Pedro, additional, Agirre, Xabier, additional, Prosper, Felipe, additional, López-Otín, Carlos, additional, Puente, Xosé S., additional, Oakes, Christopher C., additional, Zenz, Thorsten, additional, Delgado, Julio, additional, López-Guillermo, Armando, additional, Campo, Elías, additional, and Martin-Subero, José Ignacio, additional

Published
2020
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107. Xenopus CDC7 function is dependent on licensing but not on XORC, XCdc6, or CDK activity and is required for XCdc45 loading

Author

Jares, Pedro and Blow, J. Julian

Subjects
Cytochemistry -- Research, DNA, Xenopus -- Genetic aspects, Protein kinases -- Physiological aspects, Carrier proteins -- Physiological aspects, Chromosomes -- Research, Biological sciences
Abstract

Xenopus CDC7 function has been found to be dependent on licensing, but not on XCdc6, XORC, or CDK activity. It is required for XCdc45 loading. The role of XCdc7 in DNA replication is described. Sequential binding of the origin recognition complex (ORC), Cdc6, and the minichromosome maintenance (MCM/P1) proteins gives a licensed replication origin. Cell-free extracts of Xenopus eggs were used for the study. SCdc7 was seen to bind to chromatin in G1 and S phases. CDK activity is not required for association of XCdc7 with chromatin. A simple model has been found for the assembly of functional initiation complexes in the Xenopus system.

Published
2000

108. International network of cancer genome projects

Author

Hudson, Thomas J., Anderson, Warwick, Aretz, Axel, Bell, Cindy, Bernabé, Rosa R., Bhan, M. K., Calvo, Fabien, Eerola, Iiro, Gerhard, Daniela S., Guttmacher, Alan, Guyer, Mark, Hemsley, Fiona M., Jennings, Jennifer L., Kerr, David, Klatt, Peter, Kolar, Patrik, Lane, David P., Laplace, Frank, Nettekoven, Gerd, Ozenberger, Brad, Peterson, Jane, Rao, T. S., Remacle, Jacques, Schafer, Alan J., Shibata, Tatsuhiro, Stratton, Michael R., Watanabe, Koichi, Yuen, Matthew M. F., Cambon-Thomsen, Anne, Dressler, Lynn G., Joly, Yann, Kennedy, Karen L., Parker, Michael J., Romeo-Casabona, Carlos M., Wallace, Susan, Wiesner, Georgia L., Zeps, Nikolajs, Biankin, Andrew V., Chabannon, Christian, de Alava, Enrique, Ferguson, Martin L., Geary, Peter, Hayes, Neil D., Johns, Amber L., Kasprzyk, Arek, Nakagawa, Hidewaki, Piris, Miguel A., van de Vijver, Marc, Aburatani, Hiroyuki, Bayés, Mónica, Bowtell, David D.L., Campbell, Peter J., Hirst, Martin, López-Otín, Carlos, Marra, Marco, Ning, Zemin, Puente, Xose S., Ruan, Yijun, Stunnenberg, Hendrik G., Swerdlow, Harold, Velculescu, Victor E., Xue, Hong H., Yang, Liu, Spellman, Paul T., Bader, Gary D., Boutros, Paul C., Flicek, Paul, Getz, Gad, Guigó, Roderic, Guo, Guangwu, Haussler, David, Hubbard, Tim J., Jiang, Tao, Jones, Steven M., Li, Qibin, López-Bigas, Nuria, Luo, Ruibang, Muthuswamy, Lakshmi, Ouellette, Francis B. F., Pearson, John V., Quesada, Victor, Raphael, Benjamin J., Sander, Chris, Stein, Lincoln D., Stuart, Joshua M., Teague, Jon W., Totoki, Yasushi, Tsunoda, Tatsuhiko, Valencia, Alfonso, Wheeler, David A., Wu, Honglong, Zhao, Shancen, Zhou, Guangyu, Lathrop, Mark, Axton, Myles, Dyke, Stephanie O. M., Gunter, Chris, McPherson, John D., Miller, Linda J., Zhang, Junjun, Haider, Syed A., Wang, Jianxin, Yung, Christina K., Cross, Anthony, Liang, Yong, Gnaneshan, Saravanamuttu, Guberman, Jonathan, Hsu, Jack, Bobrow, Martin, Chalmers, Don R. C., Hasel, Karl W., Kaan, Terry S. H., Knoppers, Bartha M., Lowrance, William W., Masui, Tohru, Nicolás, Pilar, Rial-Sebbag, Emmanuelle, Rodriguez, Laura Lyman, Vergely, Catherine, Grimmond, Sean M., Bowtell, David D. L., Cloonan, Nicole, deFazio, Anna, Eshleman, James R., Etemadmoghadam, Dariush, Gardiner, Brooke A., Kench, James G., Scarpa, Aldo, Sutherland, Robert L., Tempero, Margaret A., Waddell, Nicola J., Wilson, Peter J., Gallinger, Steve, Tsao, Ming-Sound, Shaw, Patricia A., Petersen, Gloria M., Mukhopadhyay, Debabrata, Chin, Lynda, DePinho, Ronald A., Thayer, Sarah, Shazand, Kamran, Beck, Timothy, Sam, Michelle, Timms, Lee, Ballin, Vanessa, Ji, Jiafu, Zhang, Xiuqing, Chen, Feng, Hu, Xueda, Yang, Qi, Tian, Geng, Zhang, Lianhai, Xing, Xiaofang, Li, Xianghong, Zhu, Zhenggang, Yu, Yingyan, Yu, Jun, Yang, Huanming, Tost, Jörg, Brennan, Paul, Holcatova, Ivana, Zaridze, David, Brazma, Alvis, Egevad, Lars, Prokhortchouk, Egor, Banks, Rosamonde Elizabeth, Uhlén, Mathias, Viksna, Juris, Ponten, Fredrik, Skryabin, Konstantin, Futreal, Andrew P., Birney, Ewan, Caldas, Carlos, Reis-Filho, Jorge S., Richardson, Andrea L., Sotiriou, Christos, Birnbaum, Daniel, Blanche, Hélène, Boucher, Pascal, Boyault, Sandrine, Masson-Jacquemier, Jocelyne D., Pauporté, Iris, Pivot, Xavier, Vincent-Salomon, Anne, Tabone, Eric, Theillet, Charles, Treilleux, Isabelle, Bioulac-Sage, Paulette, Clément, Bruno, Decaens, Thomas, Degos, Françoise, Franco, Dominique, Gut, Ivo, Gut, Marta, Heath, Simon, Samuel, Didier, Thomas, Gilles, Zucman-Rossi, Jessica, Eils, Roland, Brors, Benedikt, Korbel, Jan O., Korshunov, Andrey, Landgraf, Pablo, Lehrach, Hans, Pfister, Stefan, Radlwimmer, Bernhard, Reifenberger, Guido, Taylor, Michael D., von Kalle, Christof, Majumder, Partha P., Sarin, Rajiv, Pederzoli, Paolo, Lawlor, Rita T., Delledonne, Massimo, Bardelli, Alberto, Gress, Thomas, Klimstra, David, Zamboni, Giuseppe, Nakamura, Yusuke, Kusuda, Jun, Miyano, Satoru, Kato, Kazuto, Fujimoto, Akihiro, Yoshida, Teruhiko, Campo, Elias, Estivill, Xavier, de Sanjosé, Silvia, Montserrat, Emili, González-Díaz, Marcos, Jares, Pedro, Himmelbaue, Heinz, Bea, Silvia, Aparicio, Samuel, Borg, Ake, Børresen-Dale, Anne-Lise, Foekens, John A., vanʼt Veer, Laura, Easton, Douglas F., Martin, Sancha, Compton, Carolyn C., Lander, Eric S., Penny, Robert, Shaw, Kenna M., Speed, Terence P., Vockley, Joseph G., Lichter, Peter, Barker, Anna D., Burke, Wylie, Collins, Francis S., Green, Anthony R., Hamilton, Stanley R., Kallioniemi, Olli P., Ley, Timothy J., Liu, Edison T., Lu, Youyong, Majumder, Partha, Wainwright, Brandon J., and Wilson, Richard K.

Published
2010
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109. Ghrelin Attenuates Hepatocellular Injury and Liver Fibrogenesis in Rodents and Influences Fibrosis Progression in Humans

Author

Moreno, Montserrat, Chaves, Javier F., Sancho-Bru, Pau, Ramalho, Fernando, Ramalho, Leandra N., Mansego, Maria L., Ivorra, Carmen, Dominguez, Marlene, Conde, Laura, Millán, Cristina, Marí, Montserrat, Colmenero, Jordi, Lozano, Juan J., Jares, Pedro, Vidal, Josep, Forns, Xavier, Arroyo, Vicente, Caballería, Juan, Ginès, Pere, and Bataller, Ramón

Published
2010
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110. Revised International Prognostic Index and genetic alterations are associated with early failure to R‐CHOP in patients with diffuse large B‐cell lymphoma.

Author

Dlouhy, Ivan, Karube, Kennosuke, Enjuanes, Anna, Salaverria, Itziar, Nadeu, Ferran, Ramis‐Zaldivar, Juan Enric, Valero, Juan G., Rivas‐Delgado, Alfredo, Magnano, Laura, Martin‐García, David, Pérez‐Galán, Patricia, Clot, Guillem, Rovira, Jordina, Jares, Pedro, Balagué, Olga, Giné, Eva, Mozas, Pablo, Briones, Javier, Sancho, Juan‐Manuel, and Salar, Antonio

Subjects
ANTINEOPLASTIC combined chemotherapy protocols, CELL cycle regulation, EXTRACELLULAR matrix, GENE expression profiling, DIFFUSE large B-cell lymphomas, TUMOR microenvironment
Abstract

Summary: Relapsed or refractory diffuse large B‐cell lymphoma (DLBCL) cases have a poor outcome. Here we analysed clinico‐biological features in 373 DLBCL patients homogeneously treated with rituximab, cyclophosphamide, doxorubicin, vincristine and prednisolone (R‐CHOP), in order to identify variables associated with early failure to treatment (EF), defined as primary refractoriness or relapse within 12 months from diagnosis. In addition to clinical features, mutational status of 106 genes was studied by targeted next‐generation sequencing in 111 cases, copy number alterations in 87, and gene expression profile (GEP) in 39. Ninety‐seven cases (26%) were identified as EF and showed significantly shorter overall survival (OS). Patients with B symptoms, advanced stage, high levels of serum lactate dehydrogenase (LDH) or β2‐microglobulin, low lymphocyte/monocyte ratio and higher Revised International Prognostic Index (R‐IPI) scores, as well as those with BCL2 rearrangements more frequently showed EF, with R‐IPI being the most important in logistic regression. Mutations in NOTCH2, gains in 5p15·33 (TERT), 12q13 (CDK2), 12q14·1 (CDK4) and 12q15 (MDM2) showed predictive importance for EF independently from R‐IPI. GEP studies showed that EF cases were significantly enriched in sets related to cell cycle regulation and inflammatory response, while cases in response showed over‐representation of gene sets related to extra‐cellular matrix and tumour microenvironment. [ABSTRACT FROM AUTHOR]

Published
2022
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115. Abstract 131: Concordance of mRNA expression (nCounter) and protein expression (IHC) for the detection of PD-L1 in patients with advanced non-small cell lung cancer (NSCLC)

Author

Teixido, Cristina, primary, Marin, Elba, additional, Aguado, Cristina, additional, Pare, Laia, additional, Gimenez-Capitan, Ana, additional, Lopez-Prades, Sandra, additional, Cardona, Andres Felipe, additional, Cabrera, Carlos, additional, Gonzalvo, Elena, additional, Lopez, Laura, additional, Roman, Ruth, additional, Martinez, Daniel, additional, Sullivan, Ivana, additional, Jares, Pedro, additional, Prat, Aleix, additional, Molina-Vila, Miguel Angel, additional, and Reguart, Noemi, additional

Published
2019
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117. A Pathology-Based Combined Model to Identify PAM50 Non-luminal Intrinsic Disease in Hormone Receptor-Positive HER2-Negative Breast Cancer

Author

Pascual, Tomás, primary, Martin, Miguel, additional, Fernández-Martínez, Aranzazu, additional, Paré, Laia, additional, Alba, Emilio, additional, Rodríguez-Lescure, Álvaro, additional, Perrone, Giuseppe, additional, Cortés, Javier, additional, Morales, Serafín, additional, Lluch, Ana, additional, Urruticoechea, Ander, additional, González-Farré, Blanca, additional, Galván, Patricia, additional, Jares, Pedro, additional, Rodriguez, Adela, additional, Chic, Nuria, additional, Righi, Daniela, additional, Cejalvo, Juan Miguel, additional, Tonini, Giuseppe, additional, Adamo, Barbara, additional, Vidal, Maria, additional, Villagrasa, Patricia, additional, Muñoz, Montserrat, additional, and Prat, Aleix, additional

Published
2019
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122. Prognostic significance of the loss of heterozygosity of Nm23-H1 and p53 genes in human colorectal carcinomas

Author

Campo, Elias, Miquel, Rosa, Jares, Pedro, Bosch, Francesc, Juan, Manel, Leone, Alvaro, Vives, Jordi, Cardesa, Antonio, and Yague, Jordi

Subjects
Colorectal cancer -- Prognosis, Cancer -- Genetic aspects, Health
Abstract

Background. Nm23 is a gene associated with low tumor metastatic potential and has been proposed to be a metastasis suppressor gene. Nm23 is localized on chromosome 17q21.3-22, whereas the p53 suppressor gene is on 17p13. Allelic deletions of chromosome 17 have been related to the progression of colorectal carcinomas. The purpose of this study was to analyze the allelic deletions of Nm23 and p53 in colorectal carcinomas and to assess their prognostic significance in the evolution of the patients. Methods. Allelic deletions of Nm23 and p53 genes were studied in 56 colorectal carcinomas using different restriction fragment length polymorphisms. DNA ploidy and proliferative activity of the tumors were studied by flow cytometry. Actuarial disease free and overall survival were analyzed by the Kaplan--Meier method, and the curves were compared with the log rank test. Results. Thirty-eight patients were heterozygous for Nm23 gene (68%), and 9 of them (24%) exhibited a loss of heterozygosity in the tumor sample. One of the homozygous patients showed a loss of both Nm23 alleles. Allelic deletions of 17p13 were found in 63% of the 41 informative patients. All patients' tumors that had loss of heterozygosity of the Nm23-H1 locus also had allelic losses on the short arm of chromosome 17 (17p13) and in other loci on 17q. No relationship was found between localization, invasion, lymph node metastasis, or proliferative index of the tumors and the allelic deletions of the Nm23-H1 or 17pl3 locus. Nm23-H1 deletions were relatively more frequent in poorly differentiated adenocarcinomas (P - 0.03). A significant association between 17pl3 deletions and DNA aneuploidy was found (P = 0.016). A similar tendency was observed with Nm23-H1 deletions (P = 0.051). Loss of Nm23-H1, but not of 17p13, was significantly associated with a shorter disease free (P 0.025) and overall (P = 0.04) patient survival. Conclusions. Allelic deletions of Nm23-H1 are significantly associated with a more aggressive behavior of colorectal carcinomas. The loss of this gene seems to be part of extensive deletions of chromosome 17, and it is also associated with DNA aneuploidy. More studies are needed to determine whether Nm23-H1 or a gene linked to this locus is the specific target of the progression of these tumors. Cancer 1994;73:2913-21. Key words: Nm23, p53, DNA ploidy, tumor suppressor genes, colorectal carcinoma.

Published
1994

123. Implementation of an improved Ion Ampliseq workflow in a routine dignostic setting for reliable detection of clinically variants in solid tumour samples

Author

Castellano, Giancarlo, EVA GONZALEZ, Roset, Alba, Fernandez, Eva, Isanta, Ricard, Jimenez, Wladimiro, and Jares, Pedro

Abstract

Next-generation sequencing is currently used in clinical settings for translational biomarker profiling and clinical research studies including inherited diseases and cancer. The Ion Ampliseq technology combined with the Ion Torrent PGM sequencer for somatic mutation identification is an easy to use, fast and cheap approach. We are routinely using the Oncomine Solid Tumour panel in our Service to study solid tumors using DNA fromformalin-fixed, paraffin embedded (FFPE) tissues. The Ion Ampliseq technology use a DNA barcodes system to provide flexibility and high-throughput capabilities in sequencing and to significantly increase scale while reducing costs by allowing to pool multiple library preparations in a single flow cell lane. Formalin fixation results in non-reproducible C>T/G>A sequencing artifacts that are observed after PCR amplification. We developed an optimized wet-bench workflow and a pipeline analysis to detect genomic variants based on the combination of two different barcodes for the same sample like in a duplicated assay. This design allows to increase the sensitivity and specificity of the sequencing test with the consequent reduction of false positive somatic variants due to artifacts. Moreover this new method allows to improve the detection of variant in regions with not optimal read coverage. Therefore we suggest an adjusted workflow for clinical diagnostic application that can help to detect genomic variants at low cost and with an improved performance with respect to the conventional procedure.

Published
2017
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124. Differential expression of long non-coding RNAs are related to proliferation and histological diversity in follicular lymphomas

Author

Roisman, Alejandro, primary, Castellano, Giancarlo, additional, Navarro, Alba, additional, Gonzalez-Farre, Blanca, additional, Pérez-Galan, Patricia, additional, Esteve-Codina, Anna, additional, Dabad, Marc, additional, Heath, Simon, additional, Gut, Marta, additional, Bosio, Mattia, additional, Bellot, Pau, additional, Salembier, Philippe, additional, Oliveras, Albert, additional, Slavutsky, Irma, additional, Magnano, Laura, additional, Horn, Heike, additional, Rosenwald, Andreas, additional, Ott, German, additional, Aymerich, Marta, additional, López-Guillermo, Armando, additional, Jares, Pedro, additional, Martín-Subero, José I., additional, Campo, Elías, additional, and Hernández, Luis, additional

Published
2018
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125. Association between genotypes, clinical scores and survival outcome in metastatic colorectal cancer.

Author

Reinaldo, Moreno, primary, Reig, Òscar, additional, Esposito, Francis, additional, Sanchez, Victoria, additional, Rodriguez, Patricia, additional, Albiol, Santiago, additional, Cuatrecasas, Miriam, additional, Hernández, Eva, additional, Vila-Cadasesús, Maria, additional, Jares, Pedro, additional, Pedrosa, Leire, additional, Pineda Losada, Estela, additional, Camps, Jordi, additional, Prat, Aleix, additional, and Maurel, Juan, additional

Published
2018
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126. Phase II trial of afatinib in patients with advanced/metastatic urothelial carcinoma (UC) with genetic alterations in ERBB receptors 1-3 who failed on platinum-based chemotherapy (CT).

Author

Font Pous, Albert, primary, Puente, Javier, additional, Castellano, Daniel E., additional, Real, Francisco X., additional, Climent, Miguel A., additional, Gonzalez del Alba, Aranzazu Aranzazu, additional, Oudard, Stephane, additional, Vazquez Mazon, Federico Jose, additional, Morales Barrera, Rafael, additional, Virizuela, Juan Virizuela, additional, Sala, Nuria, additional, Pérez-Valderrama, Begoña, additional, Garcia del Muro, Xavier, additional, Fernandez, Pedro L., additional, Jares, Pedro, additional, Aldecoa, Iban, additional, Gibson, Neil, additional, Serra, Josep, additional, Rodrigo Imedio, Esteban, additional, and Mellado, Begona, additional

Published
2018
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127. IGLV3-21R110identifies an aggressive biological subtype of chronic lymphocytic leukemia with intermediate epigenetics

Author

Nadeu, Ferran, Royo, Romina, Clot, Guillem, Duran-Ferrer, Martí, Navarro, Alba, Martín, Silvia, Lu, Junyan, Zenz, Thorsten, Baumann, Tycho, Jares, Pedro, Puente, Xose S., Martín-Subero, José I., Delgado, Julio, and Campo, Elías

Abstract

B-cell receptor (BCR) signaling is crucial for chronic lymphocytic leukemia (CLL) biology. IGLV3-21–expressing B cells may acquire a single point mutation (R110) that triggers autonomous BCR signaling, conferring aggressive behavior. Epigenetic studies have defined 3 CLL subtypes based on methylation signatures reminiscent of naïve-like (n-CLL), intermediate (i-CLL), and memory-like (m-CLL) B cells with different biological features. i-CLL carries a borderline IGHV mutational load and significantly higher use of IGHV3-21/IGLV3-21. To determine the clinical and biological features of IGLV3-21R110CLL and its relationship to these epigenetic subtypes, we characterized the immunoglobulin gene of 584 CLL cases using whole-genome/exome and RNA sequencing. IGLV3-21R110was detected in 6.5% of cases: 30 (38%) of 79 i-CLLs, 5 (1.7%) of 291 m-CLLs, and 1 (0.5%) of 189 n-CLLs. All stereotype subset 2 cases carried IGLV3-21R110, whereas 62% of IGLV3-21R110i-CLL cases had nonstereotyped BCR immunoglobulins. IGLV3-21R110i-CLL had a significantly higher number of SF3B1and ATMmutations and total number of driver alterations. However, the R110 mutation was the sole alteration in 1 i-CLL and was accompanied only by del(13q) in 3. Although IGHV mutational status varied, IGLV3-21R110i-CLL transcriptomically resembled n-CLL/unmutated IGHV CLL with a specific signature including WNT5A/Boverexpression. In contrast, i-CLL lacking IGLV3-21R110mirrored m-CLL/mutated IGHV. Patients with IGLV3-21R110i-CLL had a short time to first treatment and overall survival similar to those of n-CLL/unmutated IGHV patients, whereas patients with non-IGLV3-21R110i-CLL had a good prognosis similar to that of patients with m-CLL/mutated IGHV. IGLV3-21R110defines a CLL subgroup with specific biological features and an unfavorable prognosis independent of IGHV mutational status and epigenetic subtype.

Published
2021
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128. Diversity of Y-chromosomal and mtDNA Markers Included in Mediscope Chip within Two Albanian Subpopulations from Croatia and Kosovo: Preliminary Data

Author

Čoklo, Miran, Havaš Auguštin, Dubravka, Šarac, Jelena, Novokmet, Natalija, Sindik, Joško, Perinić Lewis, Ana, Zajc Petranović, Matea, Kovačević Mulahasanović, Lejla, Khusnutdinova, Elza, Litvinov, Serghey, Haydar, Sara, Lautier, Corinne, Normand, Christophe, Attaoua, Redha, Vintila, Madalina, Bosch-Comas, Anna, Suarez, Helena, Jares, Pedro, Gomis, Ramon, Missoni, Saša, Marjanović, Damir, and Grigorescu, Florin

Subjects
Genetic Markers, Male, Chromosomes, Human, Y, Croatia, Kosovo, Genetic Variation, Pilot Projects, DNA, Mitochondrial, White People, Genetics, Population, Y-chromosome, mtDNA, haplogroup, MEDISCOPE Chip, Albanian, Humans, Female, Oligonucleotide Array Sequence Analysis
Abstract

The aim of this preliminary study is to analyze genetic specificity of Kosovo Albanians comparing with neighboring populations using new genetic tool - MEDISCOPE gene chip, to investigate the feasibility of this approach. We collected 37 DNA samples (9 Croats, 17 Albanians from Croatia and 11 Albanians from Kosovo) from unrelated males born in Croatia and Kosovo. Additionally, samples were expanded with female individuals and mtDNA analysis included a total of 61 samples (15 Croats, 23 Albanians from Croatia and 23 Albanians from Kosovo). This pilot study suggests that the usage of the MEDISCOPE chip could be recognized as an efficient tool within recognition of the population genetic specificity even within extremely small sample size.

Published
2016

129. Nuclear IGF-1R predicts chemotherapy and targeted therapy resistance in metastatic colorectal cancer

Author

Codony-Servat, Jordi, primary, Cuatrecasas, Miriam, additional, Asensio, Elena, additional, Montironi, Carla, additional, Martínez-Cardús, Anna, additional, Marín-Aguilera, Mercedes, additional, Horndler, Carlos, additional, Martínez-Balibrea, Eva, additional, Rubini, Michele, additional, Jares, Pedro, additional, Reig, Oscar, additional, Victoria, Iván, additional, Gaba, Lydia, additional, Martín-Richard, Marta, additional, Alonso, Vicente, additional, Escudero, Pilar, additional, Fernández-Martos, Carlos, additional, Feliu, Jaime, additional, Méndez, Jose Carlos, additional, Méndez, Miguel, additional, Gallego, Javier, additional, Salud, Antonieta, additional, Rojo, Federico, additional, Castells, Antoni, additional, Prat, Aleix, additional, Rosell, Rafael, additional, García-Albéniz, Xabier, additional, Camps, Jordi, additional, and Maurel, Joan, additional

Published
2017
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130. The mutational landscape of small lymphocytic lymphoma compared to non-early stage chronic lymphocytic leukemia

Author

Martínez-Trillos, Alejandra, primary, Pinyol, Magda, additional, Delgado, Julio, additional, Aymerich, Marta, additional, Rozman, Maria, additional, Baumann, Tycho, additional, González-Díaz, Marcos, additional, Hernández, Jesus M, additional, Alcoceba, Miguel, additional, Muntañola, Anna, additional, Terol, Maria José, additional, Navarro, Blanca, additional, Giné, Eva, additional, Jares, Pedro, additional, Beà, Sílvia, additional, Navarro, Alba, additional, Colomer, Dolors, additional, Nadeu, Ferran, additional, Colado, Enrique, additional, Payer, Angel R., additional, García-Cerecedo, Tomás, additional, Puente, Xosé S., additional, López-Otin, Carlos, additional, Campo, Elias, additional, López-Guillermo, Armando, additional, and Villamor, Neus, additional

Published
2017
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131. Abstract 2169: Pharmacological modulation of CXCL12-CXCR4 intracellular trafficking potentiates thein vitroandin vivoactivity of the BET bromodomain inhibitor CPI203 in diffuse large B-cell lymphoma

Author

Recasens-Zorzo, Clara, primary, Cardesa-Salzmann, Teresa, additional, Ros-Blanco, Laia, additional, Esteve-Arenys, Anna, additional, Clot, Guillem, additional, Guerrero-Hernández, Martina, additional, Valera, Alejandra, additional, Moros, Alejandra, additional, Gutierrez, Gonzalo, additional, Casanova, Isolda, additional, Mangues, Ramón, additional, Sanjuan, Alejandra, additional, Menéndez, Pablo, additional, Rodriguez, Vanina, additional, Martínez, Antonio, additional, Jares, Pedro, additional, Colomer, Dolors, additional, Teixidó, Jordi, additional, Borrell, José Ignacio, additional, Campo, Elias, additional, López-Guillermo, Armando, additional, Colomo, Luís, additional, Pérez-Galán, Patricia, additional, and Roué, Gaël, additional

Published
2017
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132. Improved classification of leukemic B-cell lymphoproliferative disorders using a transcriptional and genetic classifier

Author

Navarro, Alba, primary, Clot, Guillem, additional, Martínez-Trillos, Alejandra, additional, Pinyol, Magda, additional, Jares, Pedro, additional, González-Farré, Blanca, additional, Martínez, Daniel, additional, Trim, Nicola, additional, Fernández, Verónica, additional, Villamor, Neus, additional, Colomer, Dolors, additional, Costa, Dolors, additional, Salaverria, Itziar, additional, Martín-Garcia, David, additional, Erber, Wendy, additional, López, Cristina, additional, Jayne, Sandrine, additional, Siebert, Reiner, additional, Dyer, Martin J. S., additional, Wiestner, Adrian, additional, Wilson, Wyndham H., additional, Aymerich, Marta, additional, López-Guillermo, Armando, additional, Sánchez, Àlex, additional, Campo, Elías, additional, Matutes, Estella, additional, and Beà, Sílvia, additional

Published
2017
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133. Clinical Impact of the Quantitative Subclonal Architecture in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, primary, Delgado, Julio, additional, Clot, Guillem, additional, Martín-García, David, additional, Baumann, Tycho, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Beà, Sílvia, additional, Salaverria, Itziar, additional, Navarro, Alba, additional, Suárez-Cisneros, Helena, additional, Aymerich, Marta, additional, Rozman, Maria, additional, Villamor, Neus, additional, Colomer, Dolors, additional, González, Marcos, additional, Alcoceba, Miguel, additional, Terol, María José, additional, Colado, Enrique, additional, López-Guillermo, Armando, additional, Puente, Xose S, additional, Lopez-Otin, Carlos, additional, Enjuanes, Anna, additional, and Campo, Elias, additional

Published
2016
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134. Integrating Genomic Alterations in Diffuse Large B-Cell Lymphoma Identifies New Relevant Pathways and Potential Therapeutic Targets

Author

Dlouhy, Ivan, primary, Karube, Kennosuke, additional, Enjuanes, Anna, additional, Martín-García, David, additional, Nadeu, Ferran, additional, Ordoñez, Gonzalo R, additional, Rovira, Jordina, additional, Royo, Cristina, additional, Navarro, Alba, additional, Gonzalez, Blanca, additional, Castellano, Giancarlo, additional, Rubio-Perez, Carlota, additional, Tamborero, David, additional, Briones, Javier, additional, Salar, Antonio, additional, Sancho, Juan-Manuel, additional, Mercadal, Santiago, additional, Gonzalez Barca, Eva, additional, Escoda, Lourdes, additional, Hiroaki, Miyoshi, additional, Ohshima, Koichi, additional, Kato, Koji, additional, Akashi, Koichi, additional, Mozos, Anna, additional, Colomo, Lluis, additional, Alcoceba, Miguel, additional, Valera, Alexandra, additional, Carrio, Anna, additional, Lopez-Bigas, Nuria, additional, Schmitz, Roland, additional, Staudt, Louis, additional, Jares, Pedro, additional, Salaverria, Itziar, additional, López-Guillermo, Armando, additional, and Campo, Elias, additional

Published
2016
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135. Non-coding recurrent mutations in chronic lymphocytic leukaemia

Author

Puente, Xose S., primary, Beà, Silvia, additional, Valdés-Mas, Rafael, additional, Villamor, Neus, additional, Gutiérrez-Abril, Jesús, additional, Martín-Subero, José I., additional, Munar, Marta, additional, Rubio-Pérez, Carlota, additional, Jares, Pedro, additional, Aymerich, Marta, additional, Baumann, Tycho, additional, Beekman, Renée, additional, Campo, Elías, additional, and López-Otín, Carlos, additional

Published
2016
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136. The mutational landscape of small lymphocytic lymphoma compared to non-early stage chronic lymphocytic leukemia.

Author

Martínez-Trillos, Alejandra, Pinyol, Magda, Delgado, Julio, Aymerich, Marta, Rozman, Maria, Baumann, Tycho, González-Díaz, Marcos, Hernández, Jesus M, Alcoceba, Miguel, Muntañola, Anna, Terol, Maria José, Navarro, Blanca, Giné, Eva, Jares, Pedro, Beà, Sílvia, Navarro, Alba, Colomer, Dolors, Nadeu, Ferran, Colado, Enrique, and Payer, Angel R.

Subjects
CHRONIC lymphocytic leukemia, LYMPHOMAS, GENETIC mutation, NOTCH genes, RNA metabolism, CELL cycle, NF-kappa B
Abstract

Small lymphocytic lymphoma (SLL) is considered as the non-leukemic form of presentation of chronic lymphocytic leukemia (CLL). We have compared the features, genomic alterations, and outcome of 890 patients with CLL and SLL. One hundred and thirteen patients presented as SLL and more frequently had unmutated-IGHV, CD38high, ZAP-70high, CD49dhigh, +12, alterations in genes of NOTCH1, cell cycle, RNA metabolism, and NFkB pathways than CLL. During the follow-up, 46% of SLL patients developed CLL. Time to first treatment (TTFT) was shorter in SLL (10-year: 75% vs 62%; p = .006). Binet stage, SLL, and IGHV were independent predictive factors for TTFT. Transformation to diffuse large B-cell lymphoma was higher (10-year: 12% vs 6%; p = .003), and overall survival was shorter in SLL (10-year: 55% vs 66%; p = .004). When A0 CLL patients were excluded, only CD38 and CD49d expression, +12, and 10-year TTFT remained different between the SLL and CLL patients. In summary, SLL showed only minor clinicobiological differences when compared with CLL in similar clinical stages. [ABSTRACT FROM AUTHOR]

Published
2018
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137. Gene Expression Profiling Signatures Allow the Identification of Unclassifiable Leukemic B-Cell Lymphoid Neoplasms

Author

Navarro, Alba, primary, Clot, Guillem, additional, Martinez-Trillos, Alejandra, additional, Salaverria, Itziar, additional, Martin-Garcia, David, additional, Trim, Nicola, additional, Fernandez, Veronica, additional, Villamor, Neus, additional, Colomer, Dolors, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Erber, Wendy N., additional, Wiestner, Adrian, additional, Wilson, Wyndham H., additional, Siebert, Reiner, additional, Aymerich, Marta, additional, Lopez-Guillermo, Armando, additional, Sánchez, Àlex, additional, Campo, Elias, additional, Matutes, Estella, additional, and Beà, Sílvia, additional

Published
2015
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138. Clinical Impact of Clonal and Subclonal TP53, SF3B1, BIRC3, and ATM Mutations in Chronic Lymphocytic Leukemia

Author

Nadeu, Ferran, primary, Delgado, Julio, additional, Royo, Cristina, additional, Bauman, Tycho, additional, Stankovic, Tatjana, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Navarro, Alba, additional, Martín-García, David, additional, Beà, Sílvia, additional, Salaverria, Itziar, additional, Oldreive, Ceri, additional, Aymerich, Marta, additional, Suárez-Cisneros, Helena, additional, Rozman, Maria, additional, Villamor, Neus, additional, Colomer, Dolors, additional, López-Guillermo, Armando, additional, González, Marcos, additional, Alcoceba, Miguel, additional, Terol, María José, additional, Colado, Enrique, additional, Puente, Xose S, additional, López-Otín, Carlos, additional, Enjuanes, Anna, additional, and Campo, Elías, additional

Published
2015
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139. Mutations in the Toll-like receptor/MYD88 pathway in young (≤50 years) CLL patients

Author

Martínez-Trillos, Alejandra, primary, Pinyol, Magda, additional, Navarro, Alba, additional, Aymerich, Marta, additional, Jares, Pedro, additional, Juan, Manel, additional, Rozman, María, additional, Colomer, Dolors, additional, Delgado, Julio, additional, Gine, Eva, additional, González-Díaz, Marcos, additional, Hernández-Rivas, Jesús M., additional, Colado, Enrique, additional, Rayón, Consolación, additional, Payer, Angel R., additional, Terol, Maria José, additional, Navarro, Blanca, additional, Quesada, Victor, additional, Puente, Xosé S., additional, Rozman, Ciril, additional, López-Otín, Carlos, additional, Campo, Elías, additional, López-Guillermo, Armando, additional, and Villamor, Neus, additional

Published
2015
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140. Contributors

Author

Arber, Daniel A., Bagg, Adam, Bain, Barbara J., Barry, Todd S., Bhagat, Govind, Borowitz, Michael J., Brousset, Pierre, Brynes, Russell K., Campo, Elias, Cerroni, Lorenzo, Chabot-Richards, Devon, Chan, Alexander C.L., Chan, John K.C., Chang, Karen L., Chen, Yi-Hua, Cherian, Sindhu, Connors, Joseph M., Cook, James R., Craig, Fiona E., Czader, Magdalena, de Leval, Laurence, Delsol, Georges, Duffield, Amy S., Elenitoba-Johnson, Kojo S.J., Facchetti, Fabio, Falini, Brunangelo, Feldman, Andrew L., Fend, Falko, Ferry, Judith A., Filie, Armando C., Fisogni, Simona, Foucar, Kathryn, Gascoyne, Randy D., Gaulard, Philippe, George, Tracy I., Gratzinger, Dita, Harris, Nancy Lee, Hasserjian, Robert P., Head, David R., Horny, Hans-Peter, Hsi, Eric D., Hutchison, Robert E., Hyjek, Elizabeth M., Isaacson, Peter G., Jaffe, Elaine S., Jaffe, Ronald, Jansen, Patty M., Jares, Pedro, Jones, Dan, Kadin, Marshall E., Kempf, Werner, Kluin, Philip M., Ko, Young Hyeh, Kroft, Steven H., Lamant-Rochaix, Laurence, LeBoit, Philip E., Lim, Megan S., Linden, Michael A., Louissaint, Abner, Jr., McKenna, Robert W., Mollejo, Manuela, Morice II, William G., Mrózek, Krzysztof, Natkunam, Yasodha, Nguyen, Phuong L., Ohgami, Robert S., Orazi, Attilio, Ott, German, Peterson, LoAnn C., Pincus, Laura B., Piris, Miguel A., Pittaluga, Stefania, Poppema, Sibrand, Porwit, Anna, Quintanilla-Martinez, Leticia, Racke, Frederick Karl, Raffeld, Mark, Rezk, Sherif A., Rodig, Scott J., Rosenthal, Nancy S., Said, Jonathan W., Salaverria, Itziar, Schnitzer, Bertram, Siebert, Reiner, Sohani, Aliyah R., Sotlar, Karl, Stetler-Stevenson, Maryalice, Swerdlow, Steven H., Usmani, Naheed, Valent, Peter, Vardiman, James W., Vergara-Lluri, Maria E., Vermeer, Maarten H., Weir, Edward G., Weiss, Lawrence M., Willemze, Rein, Wilson, Carla S., Woda, Bruce A., Yoshino, Tadashi, Yuan, Constance M., Zhang, Qian-Yun, and Zukerberg, Lawrence

Published
2017
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141. New Molecular Assay for the Proliferation Signature in Mantle Cell Lymphoma Applicable to Formalin-Fixed Paraffin-Embedded Biopsies.

Author

Scott, David W., Abrisqueta, Pau, Wright, George W., Slack, Graham W., Mottok, Anja, Villa, Diego, Jares, Pedro, Rauert-Wunderlich, Hilka, Royo, Cristina, Clot, Guillem, Pinyol, Magda, Boyle, Merrill, Fong Chun Chan, Braziel, Rita M., Chan, Wing C., Weisenburger, Dennis D., Cook, James R., Greiner, Timothy C., Fu, Kai, and Ott, German

Published
2017
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142. A Xenopus Dbf4 homolog is required for Cdc7 chromatin binding and DNA replication

Author

Jares Pedro, Luciani M Gloria, and Blow J Julian

Subjects
lcsh:Genetics, lcsh:QH426-470, lcsh:Cytology, lcsh:QH573-671
Abstract

Background Early in the cell cycle a pre-replicative complex (pre-RC) is assembled at each replication origin. This process involves the sequential assembly of the Origin Recognition Complex (ORC), Cdc6, Cdt1 and the MiniChromosome Maintenance (Mcm2-7) proteins onto chromatin to license the origin for use in the subsequent S phase. Licensed origins must then be activated by S phase-inducing cyclin-dependent kinases (S-CDKs) and the Dbf4/Cdc7 kinase. Results We have cloned a Xenopus homologue of Dbf4 (XDbf4), the sequence of which confirms the results of Furukhori et al. We have analysed the role of XDbf4 in DNA replication using cell-free extracts of Xenopus eggs. Our results indicate that XDbf4 is the regulatory subunit of XCdc7 required for DNA replication. We show that XDbf4 binds to chromatin during interphase, but unlike XCdc7, its chromatin association is independent of pre-RC formation, occurring in the absence of licensing, XCdc6 and XORC. Moreover, we show that the binding of XCdc7 to chromatin is dependent on the presence of XDbf4, whilst under certain circumstances XDbf4 can bind to chromatin in the absence of XCdc7. We provide evidence that the chromatin binding of XDbf4 that occurs in the absence of licensing depends on checkpoint activation. Conclusions We have identified XDbf4 as a functional activator of XCdc7, and show that it is required to recruit XCdc7 to chromatin. Our results also suggest that XCdc7 and XDbf4 are differentially regulated, potentially responding to different cell cycle signals.

Published
2004

143. Risk of Central Nervous System (CNS) Involvement in Patients with Mantle Cell Lymphoma (MCL): Analysis of Clinico-Biological Factors in a Series of 283 Cases

Author

Giné, Eva, primary, Beà, Sílvia, additional, Navarro, Alba, additional, Martínez-Cibrián, Nuria, additional, Salaverría, Itziar, additional, Martín-García, David, additional, Jares, Pedro, additional, Pinyol, Magda, additional, Royo, Cristina, additional, Clot, Guillem, additional, Aymerich, Marta, additional, Villamor, Neus, additional, Colomo, Lluis, additional, Martínez, Antonio, additional, Valera, Alexandra, additional, Rozman, María, additional, Enjuanes, Anna, additional, Forcada, Pilar, additional, Muntanola, Anna, additional, Hartmann, Elena, additional, Rosenwald, Andreas, additional, Ott, German, additional, González, Marcos, additional, Hernández-Rivas, Jesús M, additional, Klapper, Wolfram, additional, Siebert, Reiner, additional, Wiestner, Adrian, additional, Wilson, Wyndham H., additional, Calasanz, Maria José, additional, Magnano, Laura, additional, Rovira, Jordina, additional, Colomer, Dolors, additional, Campo, Elias, additional, and Lopez-Guillermo, Armando, additional

Published
2014
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144. Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome

Author

Martínez-Trillos, Alejandra, primary, Pinyol, Magda, additional, Navarro, Alba, additional, Aymerich, Marta, additional, Jares, Pedro, additional, Juan, Manel, additional, Rozman, María, additional, Colomer, Dolors, additional, Delgado, Julio, additional, Giné, Eva, additional, González-Díaz, Marcos, additional, Hernández-Rivas, Jesús M., additional, Colado, Enrique, additional, Rayón, Consolación, additional, Payer, Angel R., additional, Terol, Maria José, additional, Navarro, Blanca, additional, Quesada, Victor, additional, Puente, Xosé S., additional, Rozman, Ciril, additional, López-Otín, Carlos, additional, Campo, Elías, additional, López-Guillermo, Armando, additional, and Villamor, Neus, additional

Published
2014
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148. Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia

Author

Ferreira, Pedro G., primary, Jares, Pedro, additional, Rico, Daniel, additional, Gómez-López, Gonzalo, additional, Martínez-Trillos, Alejandra, additional, Villamor, Neus, additional, Ecker, Simone, additional, González-Pérez, Abel, additional, Knowles, David G., additional, Monlong, Jean, additional, Johnson, Rory, additional, Quesada, Victor, additional, Djebali, Sarah, additional, Papasaikas, Panagiotis, additional, López-Guerra, Mónica, additional, Colomer, Dolors, additional, Royo, Cristina, additional, Cazorla, Maite, additional, Pinyol, Magda, additional, Clot, Guillem, additional, Aymerich, Marta, additional, Rozman, Maria, additional, Kulis, Marta, additional, Tamborero, David, additional, Gouin, Anaïs, additional, Blanc, Julie, additional, Gut, Marta, additional, Gut, Ivo, additional, Puente, Xose S., additional, Pisano, David G., additional, Martin-Subero, José Ignacio, additional, López-Bigas, Nuria, additional, López-Guillermo, Armando, additional, Valencia, Alfonso, additional, López-Otín, Carlos, additional, Campo, Elías, additional, and Guigó, Roderic, additional

Published
2013
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149. Abstract 993: Upregulation of B-cell activation genes and negative regulators of apoptosis determines resistance to bendamustine in chronic lymphocytic leukemia cells.

Author

Lee-Verges, Eriong, primary, Montraveta, Arnau, additional, Pinyol, Magda, additional, Jares, Pedro, additional, Arimany-Nardi, Cristina, additional, Aymerich, Marta, additional, Villamor, Neus, additional, Pastor-Anglada, Marçal, additional, Lopez-Guillermo, Armando, additional, Perez-Galan, Patricia, additional, Roue, Gael, additional, Campo, Elias, additional, and Colomer, Dolors, additional

Published
2013
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