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  • Generation of Calpain-3 knock-out porcine embryos by CRISPR-Cas9 electroporation and intracytoplasmic microinjection of oocytes before insemination 
    Navarro-Serna, Sergio; Dehesa-Etxebeste, Martxel; Piñeiro-Silva, Celia; Romar, Raquel; Lopes, Jordana-Sena; López-de-Munain, Adolfo; Gadea, Joaquín (Elsevier Inc., 2022)
    Limb girdle muscular dystrophy type R1 (LGMDR1) is an autosomal recessive myopathy described in humans resulting from a deficiency of calpain-3 protein (CAPN3). This disease lacks effective treatment and an appropriate ...
  • Generation of RRMS and PPMS specific iPSCs as a platform for modeling Multiple Sclerosis 
    Mutukula, Naresh; Man, Zhiqiu; Takahashi, Yuta; Iniesta-Martínez, Francisca; Morales, Mariana; Carreón-Guarnizo, Ester; Hernández-Clares, Rocío; García-Bernal, David; Martínez-Martínez, Llanos; Lajara, Jerónimo; Núñez-Delicado, Estrella; Meca-Lallana, José-Eustasio; Izpisua-Belmonte, Juan-Carlos (ELSEVIER, 2021-05)
    The advent of cellular reprogramming technology converting somatic cells into induced pluripotent stem cells (iPSCs) has revolutionized our understandings of neurodegenerative diseases that are otherwise hard to access and ...
  • Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes 
    Arias-Salgado, Elena-G; Gálvez, Eva; Planas-Cerezales, Lurdes; Pintado-Berninches, Laura; Vallespin, Elena; Martínez, Pilar; Carrillo, Jaime; Iarriccio, Laura; Ruiz-Llobet, Anna; Catala, Albert; Badell-Serra, Isabel; González-Granado, Luis-I; Martín-Nalda, Andrea; Martínez-Gallo, Mónica; Galera-Miñarro, Ana-María; Rodríguez-Vigil, Carmen; Bastos-Oreiro, Mariana; Pérez-de-Nanclares, Guiomar; Leiro-Fernández, Virginia; Uria, María-Luz; Díaz-Heredia, Cristina; Valenzuela, Claudia; Martín, Sara; López-Muniz, Belén; Lapunzina, Pablo; Sevilla, Julian; Molina-Molina, María; Perona, Rosario; Sastre, Leandro (BMC, 2019-04-17)
    BACKGROUND: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as ...
  • Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts 
    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Latvala, Antti; Honda, Chika; Inui, Fujio; Tomizawa, Rie; Watanabe, Mikio; Sakai, Norio; Rebato, Esther; Busjahn, Andreas; Tyler, Jessica; Hopper, John-L; Ordoñana, Juan-Ramón; Sánchez-Romera, Juan-F; Colodro-Conde, Lucía; Calais-Ferreira, Lucas; Oliveira, Vinicius-C; Ferreira, Paulo-H; Medda, Emanuela; Nistico, Lorenza; Toccaceli, Virgilia; Derom, Catherine-A; Vlietinck, Robert-F; Loos, Ruth-JF; Siribaddana, Sisira-H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Duncan, Glen-E; Buchwald, Dedra; Tynelius, Per; Rasmussen, Finn; Tan, Qihua; Zhang, Dongfeng; Pang, Zengchang; Magnusson, Patrik-KE; Pedersen, Nancy-L; Aslan, Anna-KDahl; Hwang, Amie-E; Mack, Thomas-M; Krueger, Robert-F; McGue, Matt; Pahlen, Shandell; Brandt, Ingunn; Nilsen, Thomas-S; Harris, Jennifer-R; Martín, Nicholas-G; Medland, Sarah-E; Montgomery, Grant-W; Willemsen, Gonneke; Bartels, Meike; van-Beijsterveldt, Catharina-EM; Franz, Carol-E; Kremen, William-S; Lyons, Michael-J; Silberg, Judy-L; Maes, Hermine-H; Kandler, Christian; Nelson, Tracy-L; Whitfield, Keith-E; Corley, Robin-P; Huibregtse, Brooke-M; Gatz, Margaret; Butler, David-A; Tarnoki, Adam-D; Tarnoki, David-L; Park, Hang-A; Lee, Jooyeon; Lee, Soo-Ji; Sung, Joohon; Yokoyama, Yoshie; Sorensen, Thorkild-IA; Boomsma, Dorret; Kaprio, Jaakko (NATURE PORTFOLIO, 2020-07)
    We investigated the heritability of educational attainment and how it differed between birth cohorts and cultural-geographic regions. A classical twin design was applied to pooled data from 28 cohorts representing 16 ...
  • Genetic determinants of daytime napping and effects on cardiometabolic health 
    Dashti, Hassan-S; Daghlas, Iyas; Lane, Jacqueline-M; Huang, Yunru; Udler, Miriam-S; Wang, Heming; Ollila, Hanna-M; Jones, Samuel-E; Kim, Jaegil; Weedon, Michael-N; Wood, Andrew-R; Aslibekyan, Stella; Garaulet, Marta; Saxena, Richa (NATURE RESEARCH, 2021-02)
    Daytime napping is a common, heritable behavior, but its genetic basis and causal relationship with cardiometabolic health remain unclear. Here, we perform a genome-wide association study of self-reported daytime napping ...
  • Genetic Factors Involved in Cardiomyopathies and in Cancer 
    Sabater-Molina, María; Navarro-Peñalver, Marina; Muñoz-Esparza, Carmen; Esteban-Gil, Ángel; Santos-Mateo, Juan-José; Gimeno-Blanes, Juan-Ramón (MDPI, 2020-06)
    Cancer therapy-induced cardiomyopathy (CCM) manifests as left ventricular (LV) dysfunction and heart failure (HF). It is associated withparticular pharmacological agents and it is typically dose dependent, but significant ...
  • Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications 
    Perea-Romero, Irene; Gordo, Gema; Iancu, Ionut-F; del-Pozo-Valero, Marta; Almoguera, Berta; Blanco-Kelly, Fiona; Carreño, Ester; Jiménez-Rolando, Belén; López-Rodríguez, Rosario; Lorda-Sánchez, Isabel; Martín-Merida, Inmaculada; Pérez-de-Ayala, Lucía; Riveiro-Álvarez, Rosa; Rodríguez-Pinilla, Elvira; Tahsin-Swafiri, Saoud; Trujillo-Tiebas, María-José; Bustamante-Aragonés, Ana; Cardero-Merlo, Rocío; Fernández-Sánchez, Ruth; Gallego-Merlo, Jesús; García-Vara, Inés; Giménez-Pardo, Ascensión; Horcajada-Burgos, Laura; Infantes-Barbero, Fernando; Lantero, Esther; López-Martínez, Miguel-A; Martínez-Ramas, Andrea; Ondo, Lorena; Rodríguez-de-Alba, Marta; Sánchez-Jimeno, Carolina; Vélez-Monsalve, Camilo; Villaverde, Cristina; Zurita, Olga; Aguilera-García, Domingo; Aguirre-Lamban, Jana; Arteche, Ana; Cantalapiedra, Diego; Fernández-San-Jose, Patricia; Galbis-Martínez, Liliana; García-Hoyos, María; Lombardia, Carlos; López-Molina, María-I; Pérez-Carro, Raquel; Da-Silva, Luciana-R-J; Ramos, Carmen; Sánchez-Alcudia, Rocío; Sánchez-Navarro, Iker; Tatu, Sorina-D; Vallespín, Elena; Aller, Elena; Bernal, Sara; Gamundi, María-J; García-García, Gema; Hernan, Inmaculada; Jaijo, Teresa; Antiñolo, Guillermo; Baiget, Montserrat; Carballo, Miguel; Millán, José-M; Valverde, Diana; Allikmets, Rando; Banfi, Sandro; Cremers, Frans-P-M; Collin, Rob-W-J; de-Baere, Elfride; Hakonarson, Hakon; Kohl, Susanne; Rivolta, Carlo; Sharon, Dror; Alonso-Cerezo, María-C; Ballesta-Martínez, María-Juliana; Beltrán, Sergi; Benito-López, Carmen; Català-Mora, Jaume; Catalli, Claudio; Cotarelo-Pérez, Carmen; Fernández-Burriel, Miguel; Fontalba-Romero, Ana; Galán-Gómez, Enrique; García-Barcina, María; García-Cruz, Loida-María; Gener, Blanca; Gil-Fournier, Belén; Govea, Nancy; Guillén-Navarro, Encarna; Hernando-Acero, Inés; Irigoyen, Cristina; Izquierdo-Álvarez, Silvia; Llano-Rivas, Isabel; López-Ariztegui, María-A; López-González, Vanesa; López-Grondona, Fermina; Martorell, Loreto; Méndez-Pérez, Pilar; Moreno-Igoa, María; Oancea-Ionescu, Raluca; Palau-Martínez, Francesc; Pérez-de-Nanclares-Leal, Guiomar; Ramos-Fuentes, Feliciano-J; Rodríguez-López, Raquel; Rodríguez-Pedreira, Montserrat; Rodríguez-Peña, Lydia; Rodríguez-Sánchez, Berta; Rosell, Jordi; Rosello, Noemi; Sáez-Villaverde, Raquel; Santana, Alfredo; Valenzuela-Palafoll, Irene; Villota-Deleu, Eva; García-Sandoval, Blanca; Mínguez, Pablo; Ávila-Fernández, Almudena; Corton, Marta; Ayuso, Carmen (Nature Research, 2021)
    Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address ...
  • Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms 
    Giaccherini, Matteo; Macauda, Angélica; Sgherza, Nicola; Sainz, Juan; Gemignani, Federica; Sánchez-Maldonado, José-Manuel; Jurado, Manuel; Tavano, Francesca; Mazur, Grzegorz; Jerez-Cayuela, Andrés; Gora-Tybor, Joanna; Golos, Aleksandra; Mohedo, Francisca-Hernández; López, Joaquín; Varkonyi, Judit; Spadano, Raffaele; Butrym, Aleksandra; Canzian, Federico; Campa, Daniele (NATURE PUBLISHING GROUP, 2020-09)
    Telomere length measured in leukocyte (LTL) has been found to be associated with the risk of developing several cancer types, including myeloproliferative neoplasms (MPNs). LTL is genetically determined by, at least, 11 ...
  • Genetics and Gene-Environment Interactions in Childhood and Adult Onset Asthma 
    Morales, Eva; Duffy, David (FRONTIERS MEDIA SA, 2019-12-11)
    Asthma is a heterogeneous disease that results from the complex interaction between genetic factors and environmental exposures that occur at critical periods throughout life. It seems plausible to regard childhood-onset ...
  • Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis 
    López-Soto, Álvaro (Federacion Colombiana de Asociaciones de Obstetricia y Ginecologia, 2020)
    OBJECTIVE: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. METHODS: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison ...
  • Genoarchitectural Definition of the Adult Mouse Mesocortical Ring: A Contribution to Cortical Ring Theory 
    Puelles, Luis; Alonso, Antonia; García-Calero, Elena (Wiley, 2024-07)
    Data mining was performed at the databases of the Allen Institute for Brain Science (RRID:SCR_017001) searching for genes expressed selectively throughout the adult mouse mesocortex (transitional cortex ring predicted ...
  • Genoarchitecture of the Early Postmitotic Pretectum and the Role of Wnt Signaling in Shaping Pretectal Neurochemical Anatomy in Zebrafish 
    Brozko, Nikola; Baggio, Suelen; Lipiec, Marcin-A; Jankowska, Marta; Szewczyk, Lukasz-M; Gabriel, Michael-O; Chakraborty, Chaitali; Ferrán, José-Luis; Wisniewska, Marta-B (FRONTIERS MEDIA SA, 2022-03)
    The pretectum has a distinct nuclear arrangement and complex neurochemical anatomy. While previous genoarchitectural studies have described rostrocaudal and dorsoventral progenitor domains and subdomains in different ...
  • Genome Profiling of H3k4me3 Histone Modification in Human Adipose Tissue during Obesity and Insulin Resistance 
    Castellano-Castillo, Daniel; Ramos-Molina, Bruno; Oliva-Olivera, Wilfredo; Ocana-Wilhelmi, Luis; Queipo-Ortuño, María-Isabel; Cardona, Fernando (MDPI, 2021-10)
    BACKGROUND: Adipose tissue (AT) dysfunction is involved in obesity-related comorbidities. Epigenetic alterations have been recently associated with AT deterioration in obesity conditions. In this work, we profiled the ...
  • Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length 
    Li, Chen; Stoma, Svetlana; Lotta, Luca-A; Warner, Sophie; Albrecht, Eva; Allione, Alessandra; Arp, Pascal-P; Broer, Linda; Buxton, Jessica-L; Alves, Alexessander-Da-Silva-Couto; Deelen, Joris; Fedko, Iryna-O; Gordon, Scott-D; Jiang, Tao; Karlsson, Robert; Kerrison, Nicola; Loe, Taylor-K; Mangino, Massimo; Milaneschi, Yuri; Miraglio, Benjamin; Pervjakova, Natalia; Russo, Alessia; Surakka, Ida; van-der-Spek, Ashley; Verhoeven, Josine-E; Amin, Najaf; Beekman, Marian; Blakemore, Alexandra; Canzian, Federico; Hamby, Stephen-E; Hottenga, Jouke-Jan; Jones, Peter-D; Jousilahti, Pekka; Magi, Reedik; Medland, Sarah-E; Montgomery, Grant-W; Nyholt, Dale-R; Perola, Markus; Pietilainen, Kirsi-H; Salomaa, Veikko; Sillanpaa, Elina; Suchiman, H-Eka; van-Heemst, Diana; Willemsen, Gonneke; Agudo, Antonio; Boeing, Heiner; Boomsma, Dorret; Chirlaque-López, María-Dolores; Fagherazzi, Guy; Ferrari, Pietro; Franks, Paul; Gieger, Christian; Eriksson, Johan-Gunnar; Gunter, Marc-J; Hagg, Sara; Hovatta, Iiris; Imaz, Liher; Kaprio, Jaakko; Kaaks, Rudolf; Key, Timothy-J; Krogh, Vittorio; Martín, Nicholas-G; Melander, Olle; Metspalu, Andrés; Moreno, Concha; Onland-Moret, N-Charlotte; Nilsson, Peter-M; Ong, Ken-K; Overvad, Kim; Palli, Domenico; Panico, Salvatore; Pedersen, Nancy-L; Penninx, Brenda-W-J-H; Ramón-Quiros, J; Riitta-Jarvelin, Marjo; Rodríguez-Barranco, Miguel; Scott, Robert-A; Severi, Gianluca; Slagboom, P-Eline; Spector, Tim-D; Tjonneland, Anne; Trichopoulou, Antonia; Tumino, Rosario; Uitterlinden, Andre-G; van-der-Schouw, Yvonne-T; van-Duijn, Cornelia-M; Weiderpass, Elisabete; Denchi, Eros-Lazzerini; Matullo, Giuseppe; Butterworth, Adam-S; Danesh, John; Samani, Nilesh-J; Wareham, Nicholas-J; Nelson, Christopher-P; Langenberg, Claudia; Codd, Veryan (CELL PRESS, 2020-03-05)
    Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale ...
  • Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study 
    Cai, Lina; Wheeler, Eleanor; Kerrison, Nicola-D; Luan, Jian'an; Deloukas, Panos; Franks, Paul-W; Amiano, Pilar; Ardanaz, Eva; Bonet, Catalina; Fagherazzi, Guy; Groop, Leif-C; Kaaks, Rudolf; Huerta-Castaño, José-María; Masala, Giovanna; Nilsson, Peter-M; Overvad, Kim; Pala, Valeria; Panico, Salvatore; Rodríguez-Barranco, Miguel; Rolandsson, Olov; Sacerdote, Carlotta; Schulze, Matthias-B; Spijkerman, Annemieke-MW; Tjonneland, Anne; Tumino, Rosario; van-der-Schouw, Yvonne-T; Sharp, Stephen-J; Forouhi, Nita-G; Riboli, Elio; McCarthy, Mark-I; Barroso, Inés; Langenberg, Claudia; Wareham, Nicholas-J (NATURE PORTFOLIO, 2020-11)
    Type 2 diabetes (T2D) is a global public health challenge. Whilst the advent of genome-wide association studies has identified >400 genetic variants associated with T2D, our understanding of its biological mechanisms and ...
  • Genome-wide DNA methylation dynamics during epigenetic reprogramming in the porcine germline 
    Gómez-Redondo, Isabel; Planells, Benjamin; Canovas, Sebastian; Ivanova, Elena; Kelsey, Gavin; Gutiérrez-Adan, Alfonso (BMC, 2021-02)
    BACKGROUND: Prior work in mice has shown that some retrotransposed elements remain substantially methylated during DNA methylation reprogramming of germ cells. In the pig, however, information about this process is scarce. ...
  • Genome-wide plasma DNA methylation features of metastatic prostate cancer 
    Wu, Anjui; Cremaschi, Paolo; Wetterskog, Daniel; Conteduca, Vincenza; Franceschini, Gian-Marco; Kleftogiannis, Dimitrios; Jayaram, Anuradha; Sandhu, Shahneen; Wong, Stephen-Q; Benelli, Matteo; Salvi, Samanta; Gurioli, Giorgia; Feber, Andrew; Pereira, Mariana-Buongermino; Wingate, Anna-María; González-Billalabeitia, Enrique; de-Giorgi, Ugo; Demichelis, Francesca; Lise, Stefano; Attard, Gerhardt (AMER SOC CLINICAL INVESTIGATION INC, 2020-04-01)
    Tumor DNA circulates in the plasma of cancer patients admixed with DNA from noncancerous cells. The genomic landscape of plasma DNA has been characterized in metastatic castration-resistant prostate cancer (mCRPC) but the ...
  • Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology 
    Garrote, Marta; López-Guerra, Mónica; García-Pagan, Juan-Carlos; Arellano-Rodrigo, Eduardo; Ferrer-Marín, Francisca; Hernández-Boluda, Juan-Carlos; Bellosillo, Beatriz; Nomdedeu, Meritxell; Hernández-Gea, Virginia; Triguero, Ana; Guijarro, Francesca; Álamo, José; Baiges, Anna; Turon, Fanny; Colomer, Dolors; Cervantes, Francisco; Álvarez-Larrán, Alberto (Springer, 2024-03)
    To elucidate the role of splanchnic vein thrombosis (SVT) and genomic characteristics in prognosis and survival, we compared patients with polycythemia vera (PV) or essential thrombocythemia (ET) presenting SVT at diagnosis ...
  • Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM) 
    González-Rincon, Julia; García-Vela, José-A; Gómez, Sagrario; Fernández-Cuevas, Belén; Nova-Gurumeta, Sara; Pérez-Sanz, Nuria; Alcoceba, Miguel; González, Marcos; Anguita, Eduardo; López-Jiménez, Javier; González-Barca, Eva; Yañez, Lucrecia; Pérez-Persona, Ernesto; de-la-Serna, Javier; Fernández-Zarzoso, Miguel; Deben, Guillermo; Peñalver, Francisco-J; Fernández, María-C; Pérez-de-Oteyza, Jaime; Andreu, María-Ángeles; Ruiz-Guinaldo, María-Ángeles; Paz-Arias, Raquel; García-Malo, María-Dolores; Recasens, Valle; Collado, Rosa; Córdoba, Raúl; Navarro-Matilla, Belén; Sánchez-Beato, Margarita; García-Marco, José-Antonio (PUBLIC LIBRARY SCIENCE, 2021)
    Chronic Lymphocytic Leukemia (CLL) is the most prevalent leukemia in Western countries and is notable for its variable clinical course. This variability is partly reflected by the mutational status of IGHV genes. Many CLL ...
  • Genomics and transcriptomics yields a system-level view of the biology of the pathogen Naegleria fowleri 
    Herman, Emily-K; Greninger, Alex; van-der-Giezen, Mark; Ginger, Michael-L; Ramírez-Macías, Inmaculada; Miller, Haylea-C; Morgan, Matthew-J; Tsaousis, Anastasios-D; Velle, Katrina; Vargova, Romana; Zahonova, Kristina; Najle, Sebastian-Rodrigo; MacIntyre, Georgina; Muller, Norbert; Wittwer, Mattias; Zysset-Burri, Denise-C; Elias, Marek; Slamovits, Claudio-H; Weirauch, Matthew-T; Fritz-Laylin, Lillian; Marciano-Cabral, Francine; Puzon, Geoffrey-J; Walsh, Tom; Chiu, Charles; Dacks, Joel-B (BMC, 2021-07)
    BACKGROUND: The opportunistic pathogen Naegleria fowleri establishes infection in the human brain, killing almost invariably within 2 weeks. The amoeba performs piece-meal ingestion, or trogocytosis, of brain material ...