LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome

por Bozal-Basterra, Laura, Gonzalez-Santamarta, María, Muratore, Veronica, Bermejo-Arteagabeitia, Aitor, Da Fonseca, Carolina, Barroso-Gomila, Orhi, Azkargorta, Mikel, Iloro, Ibon, Pampliega, Olatz, Andrade, Ricardo, Martín-Martín, Natalia, Branon, Tess C, Ting, Alice Y, Rodríguez, Jose A, Carracedo, Arkaitz, Elortza, Felix, Sutherland, James D, Barrio, Rosa
Publicado 2020

Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention

por Billings, Liana K., Jablonski, Kathleen A., Warner, A. Sofia, Cheng, Yu-Chien, McAteer, Jarred B., Tipton, Laura, Shuldiner, Alan R., Ehrmann, David A., Manning, Alisa K., Dabelea, Dana, Franks, Paul W., Kahn, Steven E., Pollin, Toni I., Knowler, William C., Altshuler, David, Florez, Jose C.
Publicado 2017

Curing Cats with Feline Infectious Peritonitis with an Oral Multi-Component Drug Containing GS-441524

por Krentz, Daniela, Zenger, Katharina, Alberer, Martin, Felten, Sandra, Bergmann, Michèle, Dorsch, Roswitha, Matiasek, Kaspar, Kolberg, Laura, Hofmann-Lehmann, Regina, Meli, Marina L., Spiri, Andrea M., Horak, Jeannie, Weber, Saskia, Holicki, Cora M., Groschup, Martin H., Zablotski, Yury, Lescrinier, Eveline, Koletzko, Berthold, von Both, Ulrich, Hartmann, Katrin
Publicado 2021

Differentiation but not ALS mutations in FUS rewires motor neuron metabolism

por Vandoorne, Tijs, Veys, Koen, Guo, Wenting, Sicart, Adria, Vints, Katlijn, Swijsen, Ann, Moisse, Matthieu, Eelen, Guy, Gounko, Natalia V., Fumagalli, Laura, Fazal, Raheem, Germeys, Christine, Quaegebeur, Annelies, Fendt, Sarah-Maria, Carmeliet, Peter, Verfaillie, Catherine, Van Damme, Philip, Ghesquière, Bart, De Bock, Katrien, Van Den Bosch, Ludo
Publicado 2019

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

por Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna
Publicado 2020

Serum Trace Elements Concentrations in Patients with Restless Legs Syndrome

por Jiménez-Jiménez, Félix Javier, Ayuso, Pedro, Alonso-Navarro, Hortensia, Calleja, Marisol, Díez-Fairén, Mónica, Álvarez, Ignacio, Pastor, Pau, Plaza-Nieto, José Francisco, Navarro-Muñoz, Santiago, Turpín-Fenoll, Laura, Millán-Pascual, Jorge, Recio-Bermejo, Marta, García-Ruiz, Rafael, García-Albea, Esteban, Agúndez, José A. G., García-Martín, Elena
Publicado 2022

Did a 3800-year-old M(w) ~9.5 earthquake trigger major social disruption in the Atacama Desert?

por Salazar, Diego, Easton, Gabriel, Goff, James, Guendon, Jean L., González-Alfaro, José, Andrade, Pedro, Villagrán, Ximena, Fuentes, Mauricio, León, Tomás, Abad, Manuel, Izquierdo, Tatiana, Power, Ximena, Sitzia, Luca, Álvarez, Gabriel, Villalobos, Angelo, Olguín, Laura, Yrarrázaval, Sebastián, González, Gabriel, Flores, Carola, Borie, César, Castro, Victoria, Campos, Jaime
Publicado 2022

Zinc Oxide Nanoparticles Induce Toxicity in H9c2 Rat Cardiomyoblasts

por Mendoza-Milla, Criselda, Macías Macías, Fernanda Isabel, Velázquez Delgado, Kimberly Abigail, Herrera Rodríguez, Manuel Alejandro, Colín-Val, Zaira, Ramos-Godinez, María del Pilar, Cano-Martínez, Agustina, Vega-Miranda, Anita, Robledo-Cadena, Diana Xochiquetzal, Delgado-Buenrostro, Norma Laura, Chirino, Yolanda Irasema, Flores-Flores, José Ocotlán, López-Marure, Rebeca
Publicado 2022

Investigating palygorskite’s role in the development of mesothelioma in southern Nevada: Insights into fiber-induced carcinogenicity

por Larson, David, Powers, Amy, Ambrosi, Jean-Paul, Tanji, Mika, Napolitano, Andrea, Flores, Erin G., Baumann, Francine, Pellegrini, Laura, Jennings, Cormac J., Buck, Brenda J., McLaurin, Brett T., Merkler, Doug, Robinson, Cleo, Morris, Paul, Dogan, Meral, Dogan, A. Umran, Pass, Harvey I., Pastorino, Sandra, Carbone, Michele, Yang, Haining
Publicado 2016

Making Implementation Science Work for Children and Adolescents Living With HIV

por Mark, Daniella, Geng, Elvin, Vorkoper, Susan, Essajee, Shaffiq, Bloch, Kim, Willis, Nicola, Stewart, Bethany, Bakeera-Kitaka, Sabrina, Sugandhi, Nandita, Sturke, Rachel, Achebe, Kechi, Ferguson, B. Jane, Vicari, Marissa, Luo, Chewe, Putta, Nande, John-Stewart, Grace, Guay, Laura, Mushavi, Angela, Muhammad, Imran, Ross, David A.
Publicado 2018

Genomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progression

por Batista, Mariana de Paiva, Roffé, Martín, Romero, Ignacio, López-Guerrero, José Antonio, Illueca, Carmen, Lopez, Raquel, Balieiro Anastácio da Costa, Alexandre André, De Brot, Louise, Molina, Juan Pablo, Barboza, Laura, Peria, Fernanda Maris, Chaud, Fernando, Gouvêa Yamada, Ana Silvia, Poveda, Andres, Rego, Eduardo Magalhães
Publicado 2023

Aspirin for Venous Ulcers: Randomised Trial (AVURT): study protocol for a randomised controlled trial

por Tilbrook, Helen, Forsythe, Rachael O., Rolfe, Debbie, Clark, Laura, Bland, Martin, Buckley, Hannah, Chetter, Ian, Cook, Liz, Dumville, Jo, Gabe, Rhian, Harding, Keith, Layton, Alison, Lindsay, Ellie, McDaid, Catriona, Moffatt, Christine, Phillips, Ceri, Stansby, Gerard, Vowden, Peter, Williams, Laurie, Torgerson, David, Hinchliffe, Robert J.
Publicado 2015

SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis

por Castelli, Lydia M., Cutillo, Luisa, Souza, Cleide Dos Santos, Sanchez-Martinez, Alvaro, Granata, Ilaria, Lin, Ya-Hui, Myszczynska, Monika A., Heath, Paul R., Livesey, Matthew R., Ning, Ke, Azzouz, Mimoun, Shaw, Pamela J., Guarracino, Mario R., Whitworth, Alexander J., Ferraiuolo, Laura, Milo, Marta, Hautbergue, Guillaume M.
Publicado 2021

Chest radiography is a poor predictor of respiratory symptoms and functional impairment in survivors of severe COVID-19 pneumonia

por D'Cruz, Rebecca F., Waller, Michael D., Perrin, Felicity, Periselneris, Jimstan, Norton, Sam, Smith, Laura-Jane, Patrick, Tanya, Walder, David, Heitmann, Amadea, Lee, Kai, Madula, Rajiv, McNulty, William, Macedo, Patricia, Lyall, Rebecca, Warwick, Geoffrey, Galloway, James B., Birring, Surinder S., Patel, Amit, Patel, Irem, Jolley, Caroline J.
Publicado 2021

Medical student support for vulnerable patients during COVID-19 – a convergent mixed-methods study

por Hughes, Tirion, Beard, Eleanor, Bowman, Amelia, Chan, Joyce, Gadsby, Katrina, Hughes, Martha, Humphries, Maya, Johnston, Aaron, King, Georgina, Knock, Megan, Malhi, Kaveeta, Mickute, Gerda, Okpalugo, Ebubechi, Oliver, Madeleine, Perera, Vimukthi, Pickles, Florence, Pollock, Lily, Pullen, Lucienne, Samuels, Ffion, Sexton, Harriet, Shutler, Laura, Smith, Rebecca, Tanner, Pippa, Ladds, Emma
Publicado 2020

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

por Sharma, Neeraj, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Aksit, Melis A., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhu, Han, Sangwoo T., Anzmann, Arianna F., Lam, Anh-Thu N., Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B., Raraigh, Karen S., Sosnay, Patrick R., Cotton, Calvin U., Cutting, Garry R.
Publicado 2018

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

por Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison, Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, Liu, Pengfei
Publicado 2018

Congenital Stationary Night Blindness: Clinical and Genetic Features

por Kim, Angela H., Liu, Pei-Kang, Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Wang, Hung-Hsuan, Chen, Nelson, Tseng, Yun-Ju, Seo, Go Hun, Lee, Hane, Liu, Laura, Chao, An-Ning, Chen, Kuan-Jen, Hwang, Yih-Shiou, Wu, Wei-Chi, Lai, Chi-Chun, Tsang, Stephen H., Hsiao, Meng-Chang, Wang, Nan-Kai
Publicado 2022

Zearalenone Does Not Show Genotoxic Effects in the Drosophila melanogaster Wing Spot Test, but It Induces Oxidative Imbalance, Development, and Fecundity Alterations

por Santos-Cruz, Luis Felipe, Ponciano-Gómez, Alberto, Torres-Gregorio, Juan Tomás, Ramírez-Cruz, Bertha Guadalupe, Vázquez-Gómez, Gerardo, Hernández-Portilla, Luis Barbo, Flores-Ortiz, Cesar Mateo, Dueñas-García, Irma Elena, Heres-Pulido, María Eugenia, Castañeda-Partida, Laura, Durán-Díaz, Ángel, Campos-Aguilar, Myriam, Sigrist-Flores, Santiago Cristobal, Piedra-Ibarra, Elías
Publicado 2023

Nanobodies as allosteric modulators of Parkinson’s disease–associated LRRK2

por Singh, Ranjan K., Soliman, Ahmed, Guaitoli, Giambattista, Störmer, Eliza, von Zweydorf, Felix, Dal Maso, Thomas, Oun, Asmaa, Van Rillaer, Laura, Schmidt, Sven H., Chatterjee, Deep, David, Joshua A., Pardon, Els, Schwartz, Thomas U., Knapp, Stefan, Kennedy, Eileen J., Steyaert, Jan, Herberg, Friedrich W., Kortholt, Arjan, Gloeckner, Christian Johannes, Versées, Wim
Publicado 2022