Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Ana Latorre-Pellicer"'
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:
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:
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:
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
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:
Ana Latorre‐Pellicer, Ángela Ascaso, Cristina Lucia‐Campos, Marta Gil‐Salvador, María Arnedo, Rebeca Antoñanzas, Ariadna Ayerza‐Casas, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Feliciano J. Ramos, Juan Pié, Beatriz Puisac
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Externí odkaz:
https://doaj.org/article/d2544346b8a54870926ddcae5b29c011
Autor:
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pié, Beatriz Puisac
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9649 (2022)
The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry th
Externí odkaz:
https://doaj.org/article/28b58b60dd944fd2a3f585ad958f3f86
Autor:
Daniel Torralba, Francesc Baixauli, Carolina Villarroya-Beltri, Irene Fernández-Delgado, Ana Latorre-Pellicer, Rebeca Acín-Pérez, Noa B Martín-Cófreces, Ángel Luis Jaso-Tamame, Salvador Iborra, Inmaculada Jorge, Gloria González-Aseguinolaza, Johan Garaude, Miguel Vicente-Manzanares, José Antonio Enríquez, María Mittelbrunn, Francisco Sánchez-Madrid
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
T cells are activated by antigen-bearing dendritic cells (DC), but how DCs receive reciprocal activating signals from T cells is still unclear. Here the authors show that mitochondrial DNA-containing extracellular vesicles from activated T cells can
Externí odkaz:
https://doaj.org/article/0eb2c72dba52481d83ba1541aba39d30
Autor:
Ángel Matute-Llorente, Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan José Puente-Lanzarote, Ariadna Ayerza-Casas, María Arnedo, Luis A. Moreno, Feliciano Ramos, Juan Pié, José A. Casajus, Gloria Bueno-Lozano
Publikováno v:
Applied Sciences, Vol 11, Iss 2, p 710 (2021)
The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5–38 year
Externí odkaz:
https://doaj.org/article/c44e37c76150434abb8adb4dd102b100