Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function

por Hu, Ming, Kim, Innah, Morán, Ignasi, Peng, Weicong, Sun, Orien, Bonnefond, Amélie, Khamis, Amna, Bonas-Guarch, Silvia, Froguel, Philippe, Rutter, Guy A.
Publicado 2023

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis

por Udler, Miriam S., Kim, Jaegil, von Grotthuss, Marcin, Bonàs-Guarch, Sílvia, Cole, Joanne B., Chiou, Joshua, Boehnke, Michael, Laakso, Markku, Atzmon, Gil, Glaser, Benjamin, Mercader, Josep M., Gaulton, Kyle, Flannick, Jason, Getz, Gad, Florez, Jose C.
Publicado 2018

Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems

por Mercader, Josep M., Puiggros, Montserrat, Segrè, Ayellet V., Planet, Evarist, Sorianello, Eleonora, Sebastian, David, Rodriguez-Cuenca, Sergio, Ribas, Vicent, Bonàs-Guarch, Sílvia, Draghici, Sorin, Yang, Chenjing, Mora, Sílvia, Vidal-Puig, Antoni, Dupuis, Josée, Florez, Jose C., Zorzano, Antonio, Torrents, David
Publicado 2012

CRISPR-based genome editing in primary human pancreatic islet cells

por Bevacqua, Romina J., Dai, Xiaoqing, Lam, Jonathan Y., Gu, Xueying, Friedlander, Mollie S. H., Tellez, Krissie, Miguel-Escalada, Irene, Bonàs-Guarch, Silvia, Atla, Goutham, Zhao, Weichen, Kim, Seung Hyun, Dominguez, Antonia A., Qi, Lei S., Ferrer, Jorge, MacDonald, Patrick E., Kim, Seung K.
Publicado 2021

The impact of non-additive genetic associations on age-related complex diseases

por Guindo-Martínez, Marta, Amela, Ramon, Bonàs-Guarch, Silvia, Puiggròs, Montserrat, Salvoro, Cecilia, Miguel-Escalada, Irene, Carey, Caitlin E., Cole, Joanne B., Rüeger, Sina, Atkinson, Elizabeth, Leong, Aaron, Sanchez, Friman, Ramon-Cortes, Cristian, Ejarque, Jorge, Palmer, Duncan S., Kurki, Mitja, Aragam, Krishna, Florez, Jose C., Badia, Rosa M., Mercader, Josep M., Torrents, David
Publicado 2021

Genetic regulation of RNA splicing in human pancreatic islets

por Atla, Goutham, Bonàs-Guarch, Silvia, Cuenca-Ardura, Mirabai, Beucher, Anthony, Crouch, Daniel J. M., Garcia-Hurtado, Javier, Moran, Ignasi, Irimia, Manuel, Prasad, Rashmi B., Gloyn, Anna L., Marselli, Lorella, Suleiman, Mara, Berney, Thierry, de Koning, Eelco J. P., Kerr-Conte, Julie, Pattou, Francois, Todd, John A., Piemonti, Lorenzo, Ferrer, Jorge
Publicado 2022

Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus

por Julià, Antonio, López-Longo, Francisco Javier, Pérez Venegas, José J., Bonàs-Guarch, Silvia, Olivé, Àlex, Andreu, José Luís, Aguirre-Zamorano, Mª. Ángeles, Vela, Paloma, Nolla, Joan M., de la Fuente, José Luís Marenco, Zea, Antonio, Pego-Reigosa, José María, Freire, Mercedes, Díez, Elvira, Rodríguez-Almaraz, Esther, Carreira, Patricia, Blanco, Ricardo, Taboada, Víctor Martínez, López-Lasanta, María, Corbeto, Mireia López, Mercader, Josep M., Torrents, David, Absher, Devin, Marsal, Sara, Fernández-Nebro, Antonio
Publicado 2018

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

por Alonso, Lorena, Piron, Anthony, Morán, Ignasi, Guindo-Martínez, Marta, Bonàs-Guarch, Sílvia, Atla, Goutham, Miguel-Escalada, Irene, Royo, Romina, Puiggròs, Montserrat, Garcia-Hurtado, Xavier, Suleiman, Mara, Marselli, Lorella, Esguerra, Jonathan L.S., Turatsinze, Jean-Valéry, Torres, Jason M., Nylander, Vibe, Chen, Ji, Eliasson, Lena, Defrance, Matthieu, Amela, Ramon, Mulder, Hindrik, Gloyn, Anna L., Groop, Leif, Marchetti, Piero, Eizirik, Decio L., Ferrer, Jorge, Mercader, Josep M., Cnop, Miriam, Torrents, David
Publicado 2021

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

por Bonàs-Guarch, Sílvia, Guindo-Martínez, Marta, Miguel-Escalada, Irene, Grarup, Niels, Sebastian, David, Rodriguez-Fos, Elias, Sánchez, Friman, Planas-Fèlix, Mercè, Cortes-Sánchez, Paula, González, Santi, Timshel, Pascal, Pers, Tune H., Morgan, Claire C., Moran, Ignasi, Atla, Goutham, González, Juan R., Puiggros, Montserrat, Martí, Jonathan, Andersson, Ehm A., Díaz, Carlos, Badia, Rosa M., Udler, Miriam, Leong, Aaron, Kaur, Varindepal, Flannick, Jason, Jørgensen, Torben, Linneberg, Allan, Jørgensen, Marit E., Witte, Daniel R., Christensen, Cramer, Brandslund, Ivan, Appel, Emil V., Scott, Robert A., Luan, Jian’an, Langenberg, Claudia, Wareham, Nicholas J., Pedersen, Oluf, Zorzano, Antonio, Florez, Jose C, Hansen, Torben, Ferrer, Jorge, Mercader, Josep Maria, Torrents, David
Publicado 2018

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

por Bonàs-Guarch, Sílvia, Guindo-Martínez, Marta, Miguel-Escalada, Irene, Grarup, Niels, Sebastian, David, Rodriguez-Fos, Elias, Sánchez, Friman, Planas-Fèlix, Mercè, Cortes-Sánchez, Paula, González, Santi, Timshel, Pascal, Pers, Tune H., Morgan, Claire C., Moran, Ignasi, Atla, Goutham, González, Juan R., Puiggros, Montserrat, Martí, Jonathan, Andersson, Ehm A., Díaz, Carlos, Badia, Rosa M., Udler, Miriam, Leong, Aaron, Kaur, Varindepal, Flannick, Jason, Jørgensen, Torben, Linneberg, Allan, Jørgensen, Marit E., Witte, Daniel R., Christensen, Cramer, Brandslund, Ivan, Appel, Emil V., Scott, Robert A., Luan, Jian’an, Langenberg, Claudia, Wareham, Nicholas J., Pedersen, Oluf, Zorzano, Antonio, Florez, Jose C, Hansen, Torben, Ferrer, Jorge, Mercader, Josep Maria, Torrents, David
Publicado 2018

A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes

por Mercader, Josep M., Liao, Rachel G., Bell, Avery D., Dymek, Zachary, Estrada, Karol, Tukiainen, Taru, Huerta-Chagoya, Alicia, Moreno-Macías, Hortensia, Jablonski, Kathleen A., Hanson, Robert L., Walford, Geoffrey A., Moran, Ignasi, Chen, Ling, Agarwala, Vineeta, Ordoñez-Sánchez, María Luisa, Rodríguez-Guillen, Rosario, Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, García-Ortiz, Humberto, Centeno-Cruz, Federico, Barajas-Olmos, Francisco, Caulkins, Lizz, Puppala, Sobha, Fontanillas, Pierre, Williams, Amy L., Bonàs-Guarch, Sílvia, Hartl, Chris, Ripke, Stephan, Tooley, Katherine, Lane, Jacqueline, Zerrweck, Carlos, Martínez-Hernández, Angélica, Córdova, Emilio J., Mendoza-Caamal, Elvia, Contreras-Cubas, Cecilia, González-Villalpando, María E., Cruz-Bautista, Ivette, Muñoz-Hernández, Liliana, Gómez-Velasco, Donaji, Alvirde, Ulises, Henderson, Brian E., Wilkens, Lynne R., Le Marchand, Loic, Arellano-Campos, Olimpia, Riba, Laura, Harden, Maegan, Gabriel, Stacey, Abboud, Hanna E., Cortes, Maria L., Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Soberon, Xavier, Curran, Joanne E., Jenkinson, Christopher P., DeFronzo, Ralph A., Lehman, Donna M., Hanis, Craig L., Bell, Graeme I., Boehnke, Michael, Blangero, John, Duggirala, Ravindranath, Saxena, Richa, MacArthur, Daniel, Ferrer, Jorge, McCarroll, Steven A., Torrents, David, Knowler, William C., Baier, Leslie J., Burtt, Noel, González-Villalpando, Clicerio, Haiman, Christopher A., Aguilar-Salinas, Carlos A., Tusié-Luna, Teresa, Flannick, Jason, Jacobs, Suzanne B.R., Orozco, Lorena, Altshuler, David, Florez, Jose C.
Publicado 2017