Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Polimorfisme genètic"'
Publikováno v:
Scientia
Introduction Identifying polymorphisms in the dihydropyrimidine dehydrogenase (DPYD) gene is gaining importance to be able to predict fluoropyrimidine-associated toxicity. The aim of this project was to describe the frequency of the DPYD variants DPY
Autor:
Yolanda Gonzalez-Montes, Rocío Rodriguez-Romanos, Alicia Villavicencio, Gemma Osca-Gelis, Marta González-Bártulos, Francesca Llopis, Victòria Clapes, Albert Oriol, Anna Sureda, Lourdes Escoda, Josep Sarrà, Ana Garzó, Natàlia Lloveras, Isabel Díez, Isabel Granada, David Gallardo
Immune dysfunction in patients with multiple myeloma (MM) affects both the innate and adaptive immune system. Molecules involved in the immune checkpoint pathways are essential to determine the ability of cancer cells to escape from the immune system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3948a843c8c0efaafd73f4a053084489
http://hdl.handle.net/2445/198590
http://hdl.handle.net/2445/198590
Autor:
Gil Rodas, Alejandro Cáceres, Eva Ferrer, Laura Balagué-Dobón, Lourdes Osaba, Alejandro Lucia, Juan R. González
Publikováno v:
Genes; Volume 14; Issue 1; Pages: 33
Background: Single-nucleotide polymorphisms (SNPs) in collagen genes are predisposing factors for anterior cruciate ligament (ACL) rupture. Although these events are more frequent in females, the sex-specific risk of reported SNPs has not been evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84655e52163cdd3b0c9c41ae1148ae2f
https://hdl.handle.net/2117/388721
https://hdl.handle.net/2117/388721
Autor:
Guzmán Jiménez, Andrea, González Muñoz, Sara, Cerván Martín, Miriam, Rivera Egea, Rocío, Garrido, Nicolás, Luján, Saturnino, Santos Ribeiro, Samuel, Castilla, José A., Gonzalvo, M. Carmen, Clavero, Ana, Vicente, F. Javier, Maldonado, Vicente, Villegas Salmerón, Javier, Burgos, Miguel, Jiménez, Rafael, Pinto, Maria Graça, Pereira, Isabel, Nunes, Joaquim, Sánchez Curbelo, Josvany, López Rodrigo, Olga, Pereira Caetano, Iris, Marques, Patricia Isabel, Carvalho, Filipa, Barros, Alberto, Bassas, Lluís, Seixas, Susana, Gonçalves, João, Lopes, Alexandra M., Larriba, Sara, Palomino Morales, Rogelio J., Carmona, F. David, Bossini Castillo, Lara, Ivirma Group, Lisbon Clinical Group
Publikováno v:
Frontiers in Cell and Developmental Biology. 10
Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstr
Autor:
Richard Barfield, Conghui Qu, Robert S. Steinfelder, Chenjie Zeng, Tabitha A. Harrison, Stefanie Brezina, Daniel D. Buchanan, Peter T. Campbell, Graham Casey, Steven Gallinger, Marios Giannakis, Stephen B. Gruber, Andrea Gsur, Li Hsu, Jeroen R. Huyghe, Victor Moreno, Polly A. Newcomb, Shuji Ogino, Amanda I. Phipps, Martha L. Slattery, Stephen N. Thibodeau, Quang M. Trinh, Amanda E. Toland, Thomas J. Hudson, Wei Sun, Syed H. Zaidi, Ulrike Peters
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
Colorectal cancer (CRC) is a heterogeneous disease with evidence of distinct tumor types that develop through different somatically altered pathways. To better understand the impact of the host genome on somatically mutated genes and pathways, we ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d23f3be4eead368ca6d490b5ca0107cd
http://hdl.handle.net/2445/187816
http://hdl.handle.net/2445/187816
Autor:
Herrera Luis, Esther, Ortega, Victor E., Ampleford, Elizabeth J., Sio, Yang Yie, Granell, Raquel, de Roos, Emmely, Terzikhan, Natalie, Elorduy Vergara, Ernesto, Hernández Pacheco, Natalia, Pérez García, Javier, Martín González, Elena, Lorenzo Díaz, Fabián, Hashimoto, Simone, Brinkman, Paul, U-BIOPRED Study Group, Jorgensen, Andrea L., Yan, Qi, Forno, Erick, Vijverberg, Susanne J., Lethem, Ryan, Espuela Ortiz, Antonio, Gorenjak, Mario, Eng, Celeste, González Pérez, Ruperto, Hernández Pérez, José M., Poza Guedes, Paloma, Sardón Prado, Olaia, Corcuera Elosegui, Paula, Hawkins, Greg A., Marsico, Annalisa, Bahmer, Thomas, Rabe, Klaus F., Hansen, Gesine, Kopp, Matthias Volkmar, Rios, Raimon, Cruz Carmona, María Jesús, González Barcala, Francisco Javier, Olaguibel, José María, Plaza, Vicente, Quirce, Santiago, Canino, Glorisa, Cloutier, Michelle, Del Pozo, Victoria, Rodríguez Santana, José R., Korta Murua, José Javier, Villar, Jesús, Potočnik, Uroš, Figueiredo, Camila, Kabesch, Michael, Mukhopadhyay, Somnath, Pirmohamed, Munir, Hawcutt, Daniel B., Melén, Erik, Palmer, Colin N., Turner, Steven, Maitland-van der Zee, Anke H., von Mutius, Erika, Celedón, Juan C., Brusselle, Guy, Chew, Fook Tim, Bleecker, Eugene, Meyers, Deborah, Burchard, Esteban G., Pino Yanes, María
Publikováno v:
Herrera-Luis, E, Ortega, V, Ampleford, E, Sio, Y Y, Granell, R, Lethem, R, Pino-Yanes, M & et, A 2022, ' Multi-ancestry genome-wide association study of asthma exacerbations ', Pediatric Allergy and Immunology, vol. 33, no. 6, e13802 . https://doi.org/10.1111/pai.13802
Addi. Archivo Digital para la Docencia y la Investigación
instname
Pediatric Allergy and Immunology, 33(6):e13802. Blackwell Publishing
Pediatr. Allergy Immunol. 33:e13802 (2022)
PEDIATRIC ALLERGY AND IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Scientia
Herrera-Luis, Esther; Ortega, Victor E; Ampleford, Elizabeth J; Sio, Yang Yie; Granell, Raquel; de Roos, Emmely; Terzikhan, Natalie; Vergara, Ernesto Elorduy; Hernandez-Pacheco, Natalia; Perez-Garcia, Javier; Martin-Gonzalez, Elena; Lorenzo-Diaz, Fabian; Hashimoto, Simone; Brinkman, Paul; Jorgensen, Andrea L; Yan, Qi; Forno, Erick; Vijverberg, Susanne J; Lethem, Ryan; Espuela-Ortiz, Antonio; ... (2022). Multi-ancestry genome-wide association study of asthma exacerbations. Pediatric allergy and immunology, 33(6), e13802. Wiley-Blackwell 10.1111/pai.13802
Pediatr Allergy Immunol
Pediatric allergy and immunology, 33(6):e13802. Blackwell Munksgaard
Addi. Archivo Digital para la Docencia y la Investigación
instname
Pediatric Allergy and Immunology, 33(6):e13802. Blackwell Publishing
Pediatr. Allergy Immunol. 33:e13802 (2022)
PEDIATRIC ALLERGY AND IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Scientia
Herrera-Luis, Esther; Ortega, Victor E; Ampleford, Elizabeth J; Sio, Yang Yie; Granell, Raquel; de Roos, Emmely; Terzikhan, Natalie; Vergara, Ernesto Elorduy; Hernandez-Pacheco, Natalia; Perez-Garcia, Javier; Martin-Gonzalez, Elena; Lorenzo-Diaz, Fabian; Hashimoto, Simone; Brinkman, Paul; Jorgensen, Andrea L; Yan, Qi; Forno, Erick; Vijverberg, Susanne J; Lethem, Ryan; Espuela-Ortiz, Antonio; ... (2022). Multi-ancestry genome-wide association study of asthma exacerbations. Pediatric allergy and immunology, 33(6), e13802. Wiley-Blackwell 10.1111/pai.13802
Pediatr Allergy Immunol
Pediatric allergy and immunology, 33(6):e13802. Blackwell Munksgaard
Background: Asthma exacerbations are a serious public health concern due to high healthcare resource utilization, work/school productivity loss, impact on quality of life, and risk of mortality. The genetic basis of asthma exacerbations has been stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a36b2940a1b9606b47e851a2c57a5c
https://hdl.handle.net/1983/3527f915-59cc-4a55-aae9-17f281e40243
https://hdl.handle.net/1983/3527f915-59cc-4a55-aae9-17f281e40243
Autor:
Elena Crespo, Anna Vidal-Alabró, Thomas Jouve, Pere Fontova, Maik Stein, Sonila Mocka, Maria Meneghini, Anett Sefrin, Petra Hruba, Montserrat Gomà, Alba Torija, Laura Donadeu, Alex Favà, Josep M. Cruzado, Edoardo Melilli, Francesc Moreso, Ondrej Viklicky, Frederike Bemelman, Petra Reinke, Josep Grinyó, Nuria Lloberas, Oriol Bestard
Publikováno v:
Scientia
Frontiers in immunology, 13:869554. Frontiers Media S.A.
Dipòsit Digital de la UB
Universidad de Barcelona
Frontiers in immunology, 13:869554. Frontiers Media S.A.
Dipòsit Digital de la UB
Universidad de Barcelona
Rechazo agudo; Genética; Inmunobiología Rebuig agut; Genètica; Immunobiologia Acute rejection; Genetics; Immunobiology Achieving fast immunosuppression blood exposure after kidney transplantation is key to abrogating both preformed and de novo ant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab02808ce18fe996d70b73ee8f1fea1
https://hdl.handle.net/11351/8204
https://hdl.handle.net/11351/8204
Autor:
Pablo Gabriel-Medina, Roser Ferrer-Costa, Francisco Rodriguez-Frias, Andreea Ciudin, Salvador Augustin, Jesus Rivera-Esteban, Juan M. Pericàs, David Martinez Selva
Publikováno v:
Biomedicines; Volume 10; Issue 5; Pages: 1015
Scientia
Scientia
Advanced fibrosis; Nonalcoholic steatohepatitis; Type 2 diabetes Fibrosis avanzada; Esteatohepatitis no alcohólica; Diabetes tipo 2 Fibrosi avançada; Esteatohepatitis no alcohòlica; Diabetis tipus 2 Nonalcoholic steatohepatitis (NASH) is a leading
Autor:
Julián, Nevado, Sixto, García-Miñaúr, María, Palomares-Bralo, Elena, Vallespín, Encarna, Guillén-Navarro, Jordi, Rosell, Cristina, Bel-Fenellós, María Ángeles, Mori, Montserrat, Milá, Miguel, Del Campo, Pilar, Barrúz, Fernando, Santos-Simarro, Gabriela, Obregón, Carmen, Orellana, Harry, Pachajoa, Jair Antonio, Tenorio, Enrique, Galán, Juan C, Cigudosa, Angélica, Moresco, César, Saleme, Silvia, Castillo, Elisabeth, Gabau, Luis, Pérez-Jurado, Ana, Barcia, Maria Soledad, Martín, Elena, Mansilla, Isabel, Vallcorba, Pedro, García-Murillo, Franco, Cammarata-Scalisi, Natálya, Gonçalves Pereira, Raquel, Blanco-Lago, Mercedes, Serrano, Juan Dario, Ortigoza-Escobar, Blanca, Gener, Verónica Adriana, Seidel, Pilar, Tirado, Pablo, Lapunzina, Rodríguez-Revenga, Laia
Publikováno v:
Scientia
Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Frontiers in Genetics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Phelan-McDermid syndrome; Intellectual disabilities; Subtelomeric deletion syndrome Síndrome de Phelan-McDermid; Discapacidades intelectuales; Síndrome de deleción subtelomérica Síndrome de Phelan-McDermid; Discapacitats intel·lectuals; Síndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0060498848b2f7b4c4e187fa0c8a878d
https://hdl.handle.net/11351/8829
https://hdl.handle.net/11351/8829
Autor:
Sergi Casadó-Llombart, Hoda Gheitasi, Silvia Ariño, Marta Consuegra-Fernández, Noelia Armiger-Borràs, Belchin Kostov, Manuel Ramos-Casals, Pilar Brito-Zerón, Francisco Lozano
Publikováno v:
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Politècnica de Catalunya (UPC)
Primary Sjögren's syndrome (pSS) is an autoimmune disease triggered by a combination of environmental and host genetic factors, which results in the focal lymphocytic infiltration of exocrine glands causing eye and mouth dryness. Glandular infiltrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6998e5aa0d5085f73ff3e2ffff03f74
https://hdl.handle.net/2117/371513
https://hdl.handle.net/2117/371513