Search Results - "Sáez, M. E."

Genome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer’s disease by Sáez, M. E., González-Pérez, A., Hernández-Olasagarre, B., Beà, A., Moreno-Grau, S., de Rojas, I., Monté-Rubio, G., Orellana, A., Valero, S., Comella, J. X., Sanchís, D., Ruiz, A.

“…Echocardiography has become an indispensable tool for the study of heart performance, improving the monitoring of individuals with cardiac diseases. Diverse…”
Get full text

Evaluation of the Feasibility, Safety and Efficacy of the Use of Intravenous Infusions of Adenosine Triphosphate (ATP) in People Affected by Moderate to Severe Alzheimer’s Disease: A Double-Blind Masked Clinical Trial for Dose Finding by Ruiz, Agustín, Sánchez, D., Lafuente, A., Ortega, G., Buendía, M., Papasey, J., Jimeno, S. Y., Badia, F. P., Palacio, M. E., Abdelnour, C., Ramírez-Toraño, F., Maestú, F., Sáez, M. E., Tárraga, L., Dagnelie, P. C., Boada, M.

“…Background There are currently no drug therapies modifying the natural history of patients suffering Alzheimer’s disease (AD). Most recent clinical trials in…”
Get full text

DI-034 Drug usage evaluation of abiraterone in metastasic castration resistant prostate cancer: 4 Years of experience by Palomares, MV Villacañas, Fernández, EM Sáez, García, G Martín, Domínguez, E Fernández, Hernández, MV Calvo

“…BackgroundAbiraterione is an expensive drug indicated for the treatment of metastasic castration resistant prostate cancer. In order to optimise its use,…”
Get full text

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk by Boada, M, Antúnez, C, Ramírez-Lorca, R, DeStefano, A L, González-Pérez, A, Gayán, J, López-Arrieta, J, Ikram, M A, Hernández, I, Marín, J, Galán, J J, Bis, J C, Mauleón, A, Rosende-Roca, M, Moreno-Rey, C, Gudnasson, V, Morón, F J, Velasco, J, Carrasco, J M, Alegret, M, Espinosa, A, Vinyes, G, Lafuente, A, Vargas, L, Fitzpatrick, A L, Launer, L J, Sáez, M E, Vázquez, E, Becker, J T, López, O L, Serrano-Ríos, M, Tárraga, L, van Duijn, C M, Real, L M, Seshadri, S, Ruiz, A

“…To identify loci associated with Alzheimer disease, we conducted a three-stage analysis using existing genome-wide association studies (GWAS) and genotyping in…”
Get full text

Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease by BORREGO, S, ENG, C, SANCHEZ, B, SAEZ, M.-E, NAVARRO, E, ANTINOLO, G

“…The clinical association between multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease (HSCR) is infrequent. Germline mutations of the ret…”
Get full text

Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores by de Rojas, Itziar, Tesi, Niccolo, Zettergren, Anna, Montrreal, Laura, Antonell, Anna, Bis, Joshua C., González-Perez, Antonio, Calero, Miguel, Blesa, Rafael, Sotolongo-Grau, Oscar, Benaque, Alba, Benussi, Alberto, de Mendonça, Alexandre, Arias Pastor, Alfonso, Espinosa, Ana, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Arosio, Beatrice, Nacmias, Benedetta, Kunkle, Brian W., Charbonnier, Camille, Martínez Rodríguez, Carmen, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Buiza-Rueda, Dolores, Alcolea, Daniel, Grünblatt, Edna, Dardiotis, Efthimios, Conti, Elisa, Boerwinkle, Eric, Ferri, Evelyn, Pasquier, Florence, Mangialasche, Francesca, Hadjigeorgiou, Georgios, Spalletta, Gianfranco, Soininen, Hilkka, Rainero, Innocenzo, Hort, Jakub, Kornhuber, Johannes, Pineda, Juan A., Fortea, Juan, Popp, Julius, Buerger, Katharina, Molina-Porcel, Laura, Wang, Li-San, Farotti, Lucia, Tsolaki, Magda, Rosende-Roca, Maitée, Hulsman, Marc, Spallazzi, Marco, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Fernández-Fuertes, Marta, Herrmann, Martin J., Vyhnalek, Martin, Yannakoulia, Mary, Schmid, Matthias, Armstrong, Nicola J., Skrobot, Olivia Anna, Quenez, Olivier, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Riederer, Peter, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Kern, Silke, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Ciccone, Simona, Djurovic, Srdjan, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Ngandu, Tiia, García-Alberca, Jose María, Lleó, Alberto, Real, Luis M., Mir, Pablo, Scheltens, Philip, Holstege, Henne, Amouyel, Philippe, Blennow, Kaj, Andreassen, Ole A., Posthuma, Danielle

Get full text

EDIL3 promotes epithelial–mesenchymal transition and paclitaxel resistance through its interaction with integrin αVβ3 in cancer cells by Gasca, J., Flores, M. L., Jiménez-Guerrero, R., Sáez, M. E., Barragán, I., Ruíz-Borrego, M., Tortolero, M., Romero, F., Sáez, C., Japón, M. A.

“…Epithelial–mesenchymal transition (EMT) has recently been associated with tumor progression, metastasis, and chemotherapy resistance in several tumor types. We…”
Get full text

4CPS-157 Vedolizumab: early experience and medium-term outcomes in inflammatory bowel disease by Nieto, L Pedraza, Caballero, R Fernández, Sánchez-Hernández, JG, Rebollo, N, Pérez, MC Piñero, González, D García, Fernández, EM Sáez, López, MJ Otero

“…BackgroundVedolizumab is a monoclonal antibody approved for the treatment of moderate to severe inflammatory bowel disease (IBD) for those patients who have…”
Get full text

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression by BORREGO, S, SAEZ, M. E, RUIZ, A, GIMM, O, LOPEZ-ALONSO, M, ANTINOLO, G, ENG, C

“…Hirschsprung disease (HSCR) is a common genetic disorder presenting with functional intestinal obstruction secondary to enteric aganglionosis. HSCR can be…”
Get full text

Whole-genome conditional two-locus analysis identifies novel candidate genes for late-onset Parkinson’s disease by González-Pérez, A., Gayán, J., Marín, J., Galán, J. J., Sáez, M. E., Real, L. M., Antúnez, C., Ruiz, A.

“…Whole-genome epistasis analysis may add a new layer of knowledge to whole-genome association studies, permitting the identification of new candidate genes…”
Get full text

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease by Borrego, Salud, Ruiz, Agustín, Saez, María Eugenia, Gimm, Oliver, Gao, Xin, López-Alonso, Manuel, Hernández, Antonio, Wright, Fred A, Antiñolo, Guillermo, Eng, Charis

“…BACKGROUND Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction…”
Get full text

GAB2 gene does not modify the risk of Alzheimer’s disease in Spanish APOE 4 carriers by Ramírez-Lorca, Reposo, Boada, M., Saez, M. E., Hernandez, I., Mauleon, A., Rosende-Roca, M., Martinez-Lage, P., Gutierrez, M., Real, L. M., Lopez-Arrieta, J., Gayan, J., Antunez, C., Gonzalez-Perez, A., Tarraga, L., Ruiz, A.

“…Objectives The genetic basis of Alzheimer’s disease (AD) is being analyzed in multiple whole genome association studies (WGAS). The GAB2 gene has been proposed…”
Get full text

Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome by González, A., Sáez, M.E., Aragón, M.J., Galán, J.J., Vettori, P., Molina, L., Rubio, C., Real, L.M., Ruiz, Agustín, Ramírez-Lorca, R.

“…BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim of the present study was to investigate the…”
Get full text

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores by Moreno-Grau, Sonia, Grenier-Boley, Benjamin, Andrade, Victor, Duron, Emmanuelle, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Nicolas, Gaël, Selbæk, Geir, Chêne, Geneviève, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Alvarez, Ignacio, Appollonio, Ildebrando, Rainero, Innocenzo, Rosas Allende, Irene, Diehl-Schmid, Janine, Van Dongen, Jasper, Bis, Joshua C., Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Fließbach, Klaus, Kilander, Lena, Weinhold, Leonie, Tremolizzo, Lucio, Bellenguez, Céline, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Quintela, Inés, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Yannakoulia, Mary, Wagner, Michael, Scamosci, Michela, Calero, Miguel, Banaj, Nerisa, Scarmeas, Nikolaos, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Dionigi Rossi, Paolo, Holmans, Peter A., Fischer, Peter, Yang, Qiong, Vandenberghe, Rik, Ghidoni, Roberta, Sorbi, Sandro, Helisalmi, Seppo, Cervera-Carles, Laura, Fostinelli, Silvia, Djurovic, Srdjan, Menéndez-González, Manuel, Deramecourt, Vincent, Frank-García, Ana, Kehoe, Patrick Gavin, Sánchez-Juan, Pascual, García-Alberca, Jose María, Real, Luis M., Marquié, Marta, Moreno, Fermin, Amouyel, Philippe, Schellenberg, Gerard D., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Andreassen, Ole A, Posthuma, Danielle, Lambert, Jean-Charles, Baquero, Miquel, García-Madrona, Sebastián, García-González, Pablo, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Meggy, Alun, Schneider, Anja, Corbatón-Anchuelo, Arturo, Borroni, Barbara, Nordestgaard, Børge G., Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Van Broeckhoven, Christine, Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Galimberti, Daniela, Scarpini, Elio, Rodriguez-Rodriguez, Eloy

“…© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing,…”
Get full text

A new germline mutation, R600Q, within the coding region of RET proto-oncogene: A rare polymorphism or a MEN 2 causing mutation? by Sáez, M.E., Ruiz, A., Cebrián, A., Morales, F., Robledo, M., Antiñolo, G., Borrego, S.

Get full text

Cardiovascular and renal outcomes among patients with type 2 diabetes using SGLT2 inhibitors added to metformin: a population-based cohort study from the UK by Gonzalez Perez, Antonio, Vizcaya, David, Sáez, Maria E, Lind, Marcus, Garcia Rodriguez, Luis A

“…Large numbers of patients with type 2 diabetes receive treatment with a sodium-glucose co-transporter-2 inhibitor (SGLT2i). We investigated whether the…”
Get full text

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain by Sánchez, Beatriz, Robledo, Mercedes, Biarnes, Josefina, Sáez, María-Eugenia, Volpini, Victor, Benítez, Javier, Navarro, Elena, Ruiz, Agustín, Antiñolo, Guillermo, Borrego, Salud

“…The RET proto-oncogene encodes a receptor tyrosine kinase expressed in neural crest derived tissues. Germline mutations in the RET proto-oncogene are…”
Get full text

Long runs of homozygosity are associated with Alzheimer’s disease by Moreno-Grau, Sonia, Fernández, Maria Victoria, de Rojas, Itziar, Garcia-González, Pablo, Hernández, Isabel, Farias, Fabiana, Budde, John P., Quintela, Inés, Madrid, Laura, González-Pérez, Antonio, Montrreal, Laura, Alarcón-Martín, Emilio, Alegret, Montserrat, Maroñas, Olalla, Pineda, Juan Antonio, Macías, Juan, Marquié, Marta, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose María, Royo, José Luis, Franco-Macías, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, Cruchaga, Carlos, Ruiz, Agustín

“…Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence…”
Get full text

Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma by Hidalgo, M., Saez, M. E., Martinez-Tello, F. J., Moron, F. J., Ferrero-Herrero, E., Labalde-Martinez, M., Rigopoulou, D., Ballestin-Carcavilla, C., Ruiz, A., Royo, J. L., Ramirez-Lorca, R.

“…Papillary thyroid cancer (PTC) accounts for 80% of all thyroid malignancies, and genetic alterations associated to its etiology remain largely unknown…”
Get full text

Renal decline in patients with atrial fibrillation treated with rivaroxaban or warfarin: a population-based cohort study in the United Kingdom by Garcia Rodriguez, L A, Balabanova, Y, Saez, M E, Brobert, G, Gonzalez-Perez, A

“…Abstract Background A recent observational study (1) has suggested that renal decline among patients with non-valvular atrial fibrillation (NVAF) could be…”
Get full text