Loss of Cdkn1a protects against MASLD alone or with alcohol intake by preserving lipid homeostasis

Autor: Arantza Lamas-Paz, Alejandro Hionides-Gutiérrez, Feifei Guo, Gonzalo Jorquera, Laura Morán-Blanco, Raquel Benedé-Ubieto, Mariana Mesquita, Olga Estévez-Vázquez, Kang Zheng, Marina Mazariegos, Elena Vázquez-Ogando, Elena Blázquez-López, Iris Asensio, Beste Mutlu, Beatriz Gomez-Santos, María Isabel Peligros, Javier Vaquero, Rafael Bañares, Teresa C. Delgado, María Luz Martínez-Chantar, Eduardo Martínez-Naves, Carlos Sanz-García, Mohamed Ramadan Mohamed, Sofía Tesolato, Pilar Iniesta, Rocío Gallego-Durán, Douglas Maya-Miles, Javier Ampuero, Manuel Romero-Gómez, Ana Martínez-Alcocer, David Sanfeliu-Redondo, Anabel Fernández-Iglesias, Jordi Gracia-Sancho, Mar Coll, Isabel Graupera, Pere Ginès, Andrea Ciudin, Jesús Rivera-Esteban, Juan M. Pericàs, Matías A. Ávila, Maria Dolores Frutos, Carlos Manuel Martínez-Cáceres, Bruno Ramos-Molina, Patricia Aspichueta, Pere Puigserver, Yulia A. Nevzorova, Francisco Javier Cubero

Publikováno v: JHEP Reports, Vol 7, Iss 1, Pp 101230- (2025)

Background & Aims: Expression of P21, encoded by the CDKN1A gene, has been associated with fibrosis progression in steatotic liver disease (SLD); however, the underlying mechanisms remain unknown. In the present study, we investigated the function of

Externí odkaz: https://doaj.org/article/4e2f28ede80d4cfa8f3201c467cc1073

Liver injury in non-alcoholic fatty liver disease is associated with urea cycle enzyme dysregulation

Autor: Rocío Gallego-Durán, Javier Ampuero, Helena Pastor-Ramírez, Leticia Álvarez-Amor, Jose Antonio del Campo, Douglas Maya-Miles, Rocío Montero-Vallejo, Antonio Cárdenas-García, Mª Jesús Pareja, Sheila Gato-Zambrano, Raquel Millán, María del Carmen Rico, Amparo Luque-Sierra, Antonio Gil-Gómez, Ángela Rojas, Rocío Muñoz-Hernández, María García-Lozano, Rocío Aller, Raúl J. Andrade, Carmelo García-Monzón, Fausto Andreola, Francisco Martín, Rajiv Jalan, Manuel Romero-Gómez

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Abstract The main aim was to evaluate changes in urea cycle enzymes in NAFLD patients and in two preclinical animal models mimicking this entity. Seventeen liver specimens from NAFLD patients were included for immunohistochemistry and gene expression

Externí odkaz: https://doaj.org/article/6b0034b1492945a5bad81e9db024ea51

Analysis of Common Pathways and Markers From Non-Alcoholic Fatty Liver Disease to Immune-Mediated Diseases

Autor: Rocío Gallego-Durán, Rocío Montero-Vallejo, Douglas Maya-Miles, Ana Lucena, Franz Martin, Javier Ampuero, Manuel Romero-Gómez

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Metabolic associated fatty liver disease (MAFLD) is the most prevalent form of liver disease worldwide, accounting for a high liver-related mortality and morbidity with extensive multi-organ involvement. This entity has displaced viral hepatitis as t

Externí odkaz: https://doaj.org/article/8d9c6696eb054d378c7a6d45a6dbe999

Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients

Autor: Antonio Gil-Gómez, Ángela Rojas, María R. García-Lozano, Rocío Muñoz-Hernández, Rocío Gallego-Durán, Douglas Maya-Miles, Rocío Montero-Vallejo, Sheila Gato, Javier Gallego, Rubén Francés, Germán Soriano, Javier Ampuero, Manuel Romero-Gómez

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11840
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

A common splice variant in HSD17B13 (rs72613567:TA) was recently found to be associated with a reduced risk of developing chronic liver disease in NAFLD patients and a reduced risk of progression to advanced fibrosis and cirrhosis. In this study, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ef906ad4271d55b3545d4c17c990a8

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Autor: Michela Mazzocco, Giuseppe Lamorte, Leonardo Terranova, Cinzia Hu, Xavier Farré, Yascha Khodamoradi, Mauro D'Amato, Christian Herr, David Jiménez, Filippo Martinelli-Boneschi, Anna Latiano, Michael Dreher, Mariella D'Angiò, Rossana Carpani, Francesco Malvestiti, Enrique Navas, Antonio Voza, Anne Ma Dyrhol-Riise, Karina Banasik, Juan Delgado, Florian Kurth, Trinidad Gonzalez Cejudo, Lars Wienbrandt, Carmen de la Horrra, May Sissel Vadla, Aurora Solier, Koldo Garcia-Etxebarria, Karoline I. Gaede, Wolfgang Poller, Eloisa Urrechaga, Paolo Bonfanti, Philipp Schommers, Giuseppe Bellelli, Zehra Karadeniz, Jan Kristian Rybniker, Lisa Knopp, Alfredo Ramirez, Jesus M. Banales, Sibylle Wilfling, Elio Scarpini, Alberto Zanella, Anna Carreras Nolla, Joaquín Dopazo, Sara Pigazzini, Nicole Ludwig, Ingo Kurth, Sandra Ciesek, Dag Arne Lihaug Hoff, Ernesto Contro, Giacomo Grasselli, Maider Intxausti, Kari Risnes, Francisco Mesonero, Thorsten Brenner, Lena J Lippert, Adolfo de Salazar, Maria A. Gutierrez-Stampa, Aaron Blandino Ortiz, María Hernández-Tejero, Rosa Nieto, Jochen Schneider, Anke Hinney, Chiara Scollo, Ariadna Rando-Segura, Victor Moreno, Phillip Suwalski, Valeria Rimoldi, Ricard Ferrer, Jon Lerga-Jaso, Claudio Cappadona, Janine Altmueller, Mahnoosh Ostadreza, Verena Keitel, Lauro Sumoy, Eunate Arana, Annalisa Cavallero, Massimo Castoldi, Stephan Ripke, Antonio Muscatello, Maria J G T Vehreschild, Michael Wittig, Robert Bals, Verena Kopfnagel, David Haschka, Luis Téllez, Heinz Zoller, Isabel Hernández, Carla Bellinghausen, Agustín Ruiz, Manuel Romero-Gómez, Malte C. Ruehlemann, Nikolaus Marx, Luigi Santoro, Silvano Bosari, Carlos Ferrando, M.A. Rodríguez-Gandía, Ronny Myhre, Aleksander Rygh Holten, Marina Elena Cazzaniga, Andreas Lind, Pedro M. Rodrigues, Giacomo Bellani, Alice Braun, Clara Lehmann, Anna Ludovica Fracanzani, Soumya Raychaudhuri, Trine Folseraas, Kerstin U. Ludwig, Lindokuhle Nkambule, Gianni Pezzoli, Julia Kraft, Rocío Gallego-Durán, David Ellinghaus, Rosanna Asselta, Simonas Juzenas, Max Augustin, Mari Niemi, Manolis Kogevinas, Carlo Maj, Serena Pelusi, Stefano Aliberti, Rafael de Cid, Selina Rolker, Victor Andrade, Jonas Bergan, Federico García, Tobias L. Lenz, Andrea Gori, Maria Grazia Valsecchi, Elisa T Helbig, Oliver A. Cornely, Laura Izquierdo-Sanchez, Tom H. Karlsen, Adolfo Garrido Chercoles, Joan Ramon Badia, José Hernández Quero, Benedikt Schaefer, Jatin Arora, Mareike Wendorff, David Pestaña, Thomas Bahmer, Ana Teles, Antonella Ruello, Alessio Gerussi, Francisco J. Medrano, Xiaomin Wang, Joern Walter, Natale Imaz Ayo, Onur oezer, Almut Nebel, Ferruccio Ceriotti, Mercè Boada, Ulf Landmesser, Ana Lleo, Christoph D. Spinner, Sara Bombace, Giuseppe Foti, Antonio Julià, Alessandro Cherubini, Lucia Garbarino, Beatriz Nafria-Jimenez, Hesham ElAbd, Pietro Invernizzi, Paola Faverio, Jordi Barretina, David Toapanta, Iván Galván-Femenía, Sara Marsal, Stefano Duga, Ulrike Protzer, Luisa Roade, Philipp Koehler, Nilda Martinez, Clinton Azuure, Philip Rosenstiel, Daniela Galimberti, Per Hoffmann, Alessandra Bandera, Natalia Blay, Jan Cato Holter, Julia Fazaal, Eike Matthias Wacker, Torsten Feldt, Giovanni Albano, Andre Franke, Mario Cáceres, Roberta Gualtierotti, Sebastian J. Klein, Andreas Glueck, Salvatore Badalamenti, Siegfried Goerg, Isabell Pink, Stefan Schreiber, Leif E. Sander, Javier Fernández, M Seilmaier, Orazio Palmieri, Carsten Skurk, Jan Heyckendorf, Adriana Palom, Stefanie Heilmann-Heimbach, Francesco Blasi, Ilaria My, Mattia Cordioli, Sammra Haider, Giorgio Costantino, Giuseppe Citerio, Nicola Montano, Pedro Castro, Marit Mæhle Grimsrud, Alexander Popov, Ole Bernt Lenning, Holger Neb, Enric Reverter, Erik Solligård, Oliver Witzke, Itziar de Rojas, Flora Peyvandi, Susanne Gjeruldsen Dudman, Daniele Prati, Kristian Tonby, Luca Valenti, Christoph Lange, Alberto Mantovani, Florian Tran, Juan M. Guerrero, Luis Bujanda, Natalia Chueca, Michael Joannidis, Enrique J. Calderon, Elvezia Maria Paraboschi, Vegard Skogen, Bjoern Jensen, Paolo Tentorio, Raúl de Pablo, Cristiana Bianco, Antonio Pesenti, Vicente Friaza, Lars Heggelund, Eva C. Schulte, Markus M. Noethen, Andrea Ganna, Agustín Albillos, Laura Rachele Bettini, Florian Uellendahl-Werth, Covid Aachen Study, Josune Goikoetxea, Jan Kristian Damås, Andrea Biondi, Cristina Sancho, Alessandro Protti, Bettina Heidecker, Ute Hehr, Markus Cornberg, Lise Tuset Gustad, Ana Barreira, Emanuele Pontali, Felix Garcia Sanchez, Johannes R. Hov, Marta Marquié, Maria Buti, Sandra May, Melissa Tomasi, Javier Ampuero, Søren Brunak, Carmen Quereda, Pedro Pablo Espana, Beatriz Mateos, Jan Egil Afset, Mar Riveiro-Barciela, Beatriz Cortés, Thomas Eggermann, Frank Hanses, Julia Schroeder, Karl Erik Mueller, Maria Manunta, Anders Benjamin Kildal, Thomas Illig, Charlotte Thibeault, Maurizio Cecconi, Alena Mayer, Frauke Degenhardt, Douglas Maya-Miles, Alessio Aghemo, Petra Bacher, Marc M. Berger, Francisco Rodriguez-Frias, Fredrik Mueller, Elena Azzolini, Ruben Morilla

Publikováno v: Degenhardt, F, Ellinghaus, D, Juzenas, S, Lerga-Jaso, J, Wendorff, M, Maya-Miles, D, Uellendahl-Werth, F, ElAbd, H, Rühlemann, M C, Arora, J, Özer, O, Lenning, O B, Myhre, R, Vadla, M S, Wacker, E M, Wienbrandt, L, Ortiz, A B, Salazar, A, Chercoles, A G, Palom, A, Ruiz, A, Garcia-Fernandez, A-E, Blanco-Grau, A, Mantovani, A, Zanella, A, Holten, A R, Mayer, A, Bandera, A, Cherubini, A, Protti, A, Aghemo, A, Gerussi, A, Ramirez, A, Braun, A, Nebel, A, Barreira, A, Lleo, A, Teles, A, Kildal, A B, Biondi, A, Caballero-Garralda, A, Ganna, A, Gori, A, Glück, A, Lind, A, Hinney, A, Jensen, B, Banasik, K, Castro, P, Brunak, S & COVICAT study group, Aachen Study (COVAS) 2022, ' Detailed stratified GWAS analysis for severe COVID-19 in four European populations ', Human Molecular Genetics, vol. 31, no. 23, pp. 3945-3966 . https://doi.org/10.1093/hmg/ddac158
ddac158
Human Molecular Genetics
Human molecular genetics : HMG online 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158
Human molecular genetics, Oxford : Oxford University Press, 2022, vol. 31, no. 23, p. 3945-3966
Digital.CSIC. Repositorio Institucional del CSIC
instname
Human molecular genetics 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158

Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b101566ae8e5eb3222844e2756df42
https://curis.ku.dk/portal/da/publications/detailed-stratified-gwas-analysis-for-severe-covid19-in-four-european-populations(28d224ed-e846-4731-a527-508a45411ef5).html