Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Ana Latorre"'
Autor:
Rosario Menéndez, Raúl Méndez, Paula González-Jiménez, Ana Latorre, Soledad Reyes, Rafael Zalacain, Luis A. Ruiz, Leyre Serrano, Pedro P. España, Ane Uranga, Catia Cillóniz, Andrea Gaetano-Gil, Borja M. Fernández-Félix, Luis Pérez-de-Llano, Rafael Golpe, Antoni Torres
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Improved phenotyping in pneumonia is necessary to strengthen risk assessment. Via a feasible and multidimensional approach with basic parameters, we aimed to evaluate the effect of host response at admission on severity stratification in COV
Externí odkaz:
https://doaj.org/article/51f1cc12246d42598373f3654d6b138a
Autor:
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 211-217 (2024)
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthr
Externí odkaz:
https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1
Autor:
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Lidia Larizza, María Arnedo, Ariadna Ayerza-Casas, Julia Del Rincón, Laura Trujillano, Beatriz Morte, Luis A. Pérez-Jurado, Pablo Lapunzina, Elsa Leitão, Jasmin Beygo, Christina Lich, Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J. Kaiser, Feliciano J. Ramos, Beatriz Puisac, Juan Pié
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Cornelia de Lange syndrome (CdLS, OMIM #122470, #300590, #300882, #610759, and #614701) is a rare congenital disorder that affects the development of multiple organs and is characterized by physical abnormalities and cognitive and behavioral disabili
Externí odkaz:
https://doaj.org/article/137ab398102e4248957d0e912630ea0c
Autor:
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
Publikováno v:
Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp 352-362 (2024)
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postna
Externí odkaz:
https://doaj.org/article/b32335af8e744f76992bc585fbcb8e14
Autor:
Paula González-Jiménez, Mónica Piqueras, Ana Latorre, Jordi Tortosa-Carreres, Noé Mengot, Ricardo Alonso, Soledad Reyes, Isabel Amara-Elori, Luis Martínez-Dolz, Antonio Moscardó, Rosario Menéndez, Raúl Méndez
Publikováno v:
Biomedicines, Vol 12, Iss 10, p 2413 (2024)
Background: Complications in community-acquired pneumonia (CAP), including cardiovascular events (CVE), can occur during an acute episode and in the long term. We aimed to analyse the role of endothelial damage biomarkers (C-terminal endothelin-1 pre
Externí odkaz:
https://doaj.org/article/2950ace0f0e34861895846464709ba94
Autor:
Raúl Méndez, Paula González-Jiménez, Ana Latorre, Noé Mengot, Rafael Zalacain, Luis A. Ruiz, Leyre Serrano, Pedro P. España, Ane Uranga, Catia Cillóniz, David Hervás, Antoni Torres, Rosario Menéndez, NEUMONAC, RECOVID
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionThere are no data on the association of type of pneumonia and long-term mortality by the type of pneumonia (COVID-19 or community-acquired pneumonia [CAP]) on long-term mortality after an adjustment for potential confounding variables. We
Externí odkaz:
https://doaj.org/article/10fd0cb4602642e8b39999344129a377
Autor:
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J. Ramos, Juan Pié
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow
Externí odkaz:
https://doaj.org/article/9d4e6302de974b37b68d6ed677076a23
Autor:
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of
Externí odkaz:
https://doaj.org/article/44bd90137bd44131872e1f1eb901a15b
Autor:
Patricia Garcia, Rita Fernandez-Hernandez, Ana Cuadrado, Ignacio Coca, Antonio Gomez, Maria Maqueda, Ana Latorre-Pellicer, Beatriz Puisac, Feliciano J. Ramos, Juan Sandoval, Manel Esteller, Jose Luis Mosquera, Jairo Rodriguez, J. Pié, Ana Losada, Ethel Queralt
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established. Here the authors reveal system skeletal organization genes are downr
Externí odkaz:
https://doaj.org/article/1fec41f2d0984161b192cd10bde5d61f
Autor:
Alba Gonzalez-Franquesa, Pau Gama-Perez, Marta Kulis, Karolina Szczepanowska, Norma Dahdah, Sonia Moreno-Gomez, Ana Latorre-Pellicer, Rebeca Fernández-Ruiz, Antoni Aguilar-Mogas, Anne Hoffman, Erika Monelli, Sara Samino, Joan Miró-Blanch, Gregor Oemer, Xavier Duran, Estrella Sanchez-Rebordelo, Marc Schneeberger, Merce Obach, Joel Montane, Giancarlo Castellano, Vicente Chapaprieta, Wenfei Sun, Lourdes Navarro, Ignacio Prieto, Carlos Castaño, Anna Novials, Ramon Gomis, Maria Monsalve, Marc Claret, Mariona Graupera, Guadalupe Soria, Christian Wolfrum, Joan Vendrell, Sonia Fernández-Veledo, Jose Antonio Enríquez, Angel Carracedo, José Carlos Perales, Rubén Nogueiras, Laura Herrero, Aleksandra Trifunovic, Markus A. Keller, Oscar Yanes, Marta Sales-Pardo, Roger Guimerà, Matthias Blüher, José Ignacio Martín-Subero, Pablo M. Garcia-Roves
Publikováno v:
Redox Biology, Vol 54, Iss , Pp 102353- (2022)
Metabolic plasticity is the ability of a biological system to adapt its metabolic phenotype to different environmental stressors. We used a whole-body and tissue-specific phenotypic, functional, proteomic, metabolomic and transcriptomic approach to s
Externí odkaz:
https://doaj.org/article/ad594c8df2c8447b85a354bfb7fa6b81