Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Juan Pié"'
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:
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:
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:
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F.J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt
Publikováno v:
Cell Reports, Vol 31, Iss 7, Pp - (2020)
Summary: The NIPBL/MAU2 heterodimer loads cohesin onto chromatin. Mutations in NIPBL account for most cases of the rare developmental disorder Cornelia de Lange syndrome (CdLS). Here we report a MAU2 variant causing CdLS, a deletion of seven amino ac
Externí odkaz:
https://doaj.org/article/919e3b69e9754004a2694650463d7df7
Autor:
Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0227411 (2020)
Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylgluta
Externí odkaz:
https://doaj.org/article/1d69a154859b4aa693da7b441971531f
Autor:
Íñigo Marcos-Alcalde, Jesús I. Mendieta-Moreno, Beatriz Puisac, María Concepción Gil-Rodríguez, María Hernández-Marcos, Diego Soler-Polo, Feliciano J. Ramos, José Ortega, Juan Pié, Jesús Mendieta, Paulino Gómez-Puertas
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract The cohesin ring is a protein complex composed of four core subunits: Smc1A, Smc3, Rad21 and Stag1/2. It is involved in chromosome segregation, DNA repair, chromatin organization and transcription regulation. Opening of the ring occurs at th
Externí odkaz:
https://doaj.org/article/9d8b866162dc4999b46b4c8eaf6a54fb