Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Beatriz, Morte"'
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:
Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Background and PurposePrimary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or a syndrome encompassing different neurodegenerative di
Externí odkaz:
https://doaj.org/article/fe4c71d0a774413c9e22a650a5cb7776
Publikováno v:
Journal of Endocrinology. 255:R27-R36
Brain development is critically dependent on the timely supply of thyroid hormones. The thyroid hormone transporters are central to the action of thyroid hormones in the brain, facilitating their passage through the blood-brain b arrier. Mutations of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047b81bdfcf85a6535e15da7ec1525cd
https://doi.org/10.1530/joe-22-0189
https://doi.org/10.1530/joe-22-0189
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e91692 (2014)
The effects of thyroid hormone on brain development and function are largely mediated by the binding of 3,5,3'-triiodo-L-thyronine (T3) to its nuclear receptors (TR) to regulate positively or negatively gene expression. We have analyzed by quantitati
Externí odkaz:
https://doaj.org/article/41a275efc6284791a3750c0cb5da068a
Autor:
Bárbara Núñez, Raquel Martínez de Mena, Maria Jesus Obregon, Mariona Font-Llitjós, Virginia Nunes, Manuel Palacín, Alexandra M Dumitrescu, Beatriz Morte, Juan Bernal
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96915 (2014)
Thyroid hormone entry into cells is facilitated by transmembrane transporters. Mutations of the specific thyroid hormone transporter, MCT8 (Monocarboxylate Transporter 8, SLC16A2) cause an X-linked syndrome of profound neurological impairment and alt
Externí odkaz:
https://doaj.org/article/8901d4c3e61344998e5c47c39fc015dd
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 31(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd29b5925acb41933062ed72662eddc6
https://pubmed.ncbi.nlm.nih.gov/34114484
https://pubmed.ncbi.nlm.nih.gov/34114484
Autor:
Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
Publikováno v:
Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166a
https://www.mdpi.com/2073-4425/12/5/738
https://www.mdpi.com/2073-4425/12/5/738
Autor:
Jair, Tenorio-Castaño, Beatriz, Morte, Julián, Nevado, Víctor, Martinez-Glez, Fernando, Santos-Simarro, Sixto, García-Miñaúr, María, Palomares-Bralo, Marta, Pacio-Míguez, Beatriz, Gómez, Pedro, Arias, Alba, Alcochea, Juan, Carrión, Patricia, Arias, Berta, Almoguera, Fermina, López-Grondona, Isabel, Lorda-Sanchez, Enrique, Galán-Gómez, Irene, Valenzuela, María Pilar, Méndez Perez, Ivón, Cuscó, Francisco, Barros, Juan, Pié, Sergio, Ramos, Feliciano J, Ramos, Alma, Kuechler, Eduardo, Tizzano, Carmen, Ayuso, Frank J, Kaiser, Luis A, Pérez-Jurado, Ángel, Carracedo, The ENoD-Ciberer Consortium, The Side Consortium, Pablo, Lapunzina
Publikováno v:
Genes
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::388c52eacdb431e17081e64cb0bde6d6
https://pubmed.ncbi.nlm.nih.gov/34068396
https://pubmed.ncbi.nlm.nih.gov/34068396
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
© Diego Diez et al., 2021; Published by Mary Ann Liebert, Inc.
[Background]: Thyroid hormones are crucial for brain development, acting through the thyroid hormone nuclear receptors (TR)α1 and β to control gene expression. Triiodothyronine (T
[Background]: Thyroid hormones are crucial for brain development, acting through the thyroid hormone nuclear receptors (TR)α1 and β to control gene expression. Triiodothyronine (T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::239c6ec12c18eb8b76dbcca830626d21
http://hdl.handle.net/10261/265487
http://hdl.handle.net/10261/265487
Autor:
Tiago B Rodrigues, Ainhoa Ceballos, Carmen Grijota-Martínez, Barbara Nuñez, Samuel Refetoff, Sebastian Cerdán, Beatriz Morte, Juan Bernal
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e74621 (2013)
Mutations of the monocarboxylate transporter 8 (MCT8) cause a severe X-linked intellectual deficit and neurological impairment. MCT8 is a specific thyroid hormone (T4 and T3) transporter and the patients also present unusual abnormalities in the seru
Externí odkaz:
https://doaj.org/article/731bcf4cf7ca4c42ab7b10cb91daafb6