Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Raquel Rabionet"'
Autor:
Natalia Garcia-Giralt, Diana Ovejero, Daniel Grinberg, Xavier Nogues, Santos Castañeda, Susanna Balcells, Raquel Rabionet
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-4 (2024)
Abstract Background Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencin
Externí odkaz:
https://doaj.org/article/61fb948c4fc94f8ca47a2b7e29955792
Autor:
Aina Medina-Dols, Guillem Cañellas, Toni Capó, Montse Solé, Marina Mola-Caminal, Natalia Cullell, Marina Jaume, Laura Nadal-Salas, Jaume Llinàs, Lluis Gómez, Silvia Tur, Carmen Jiménez, Rosa M. Díaz, Caty Carrera, Elena Muiño, Cristina Gallego-Fabrega, Carolina Soriano-Tárraga, Laura Ruiz-Guerra, Josep Pol-Fuster, Víctor Asensio, Josep Muncunill, Aarne Fleischer, Amanda Iglesias, Eva Giralt-Steinhauer, Uxue Lazcano, Isabel Fernández-Pérez, Joan Jiménez-Balado, Marina Gabriel-Salazar, Miguel Garcia-Gabilondo, Ting Lei, Nuria-Paz Torres-Aguila, Jara Cárcel-Márquez, Jerònia Lladó, Gabriel Olmos, Anna Rosell, Joan Montaner, Anna M. Planas, Raquel Rabionet, Mar Hernández-Guillamon, Jordi Jiménez-Conde, Israel Fernández-Cadenas, Cristòfol Vives-Bauzá
Publikováno v:
Cell Death Discovery, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract Through GWAS studies we identified PATJ associated with functional outcome after ischemic stroke (IS). The aim of this study was to determine PATJ role in brain endothelial cells (ECs) in the context of stroke outcome. PATJ expression analys
Externí odkaz:
https://doaj.org/article/a3a6afd055e1410284b6f07d9b5f4bf3
Autor:
María Isabel Álvarez-Mora, Aurora Sánchez, Laia Rodríguez-Revenga, Jordi Corominas, Raquel Rabionet, Susana Puig, Irene Madrigal
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These diseases are highly hetero
Externí odkaz:
https://doaj.org/article/da85f4182a5e448d8dc67d3b0efe81cc
Autor:
Laura Domènech, Jesse Willis, Maria Alemany-Navarro, Marta Morell, Eva Real, Geòrgia Escaramís, Sara Bertolín, Daniel Sánchez Chinchilla, Susanna Balcells, Cinto Segalàs, Xavier Estivill, Jose M. Menchón, Toni Gabaldón, Pino Alonso, Raquel Rabionet
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Although the etiology of obsessive–compulsive disorder (OCD) is largely unknown, it is accepted that OCD is a complex disorder. There is a known bi-directional interaction between the gut microbiome and brain activity. Several authors have
Externí odkaz:
https://doaj.org/article/a15dfc880161498f883cf184d945b8ca
Autor:
Núria Martínez-Gil, Leonardo Mellibovsky, Demián Manzano-López González, Juan David Patiño, Monica Cozar, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Publikováno v:
Bone Reports, Vol 16, Iss , Pp 101181- (2022)
Background: Chiari malformation type 1 (C1M) is a neurological disease characterized by herniation of the cerebellar tonsils below the foramen magnum. Cranial bone constriction is suspected to be its main cause. To date, genes related to bone develop
Externí odkaz:
https://doaj.org/article/a3d90186885742b3be89f11c395f9710
Autor:
Núria Martínez‐Gil, Diana Ovejero, Natalia Garcia‐Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogués, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Publikováno v:
JBMR Plus, Vol 6, Iss 4, Pp n/a-n/a (2022)
ABSTRACT Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture‐resistant, bones. Both osteopor
Externí odkaz:
https://doaj.org/article/db2157af1b33404997df7c4e6ba921f2
Autor:
Nerea Ugartondo, Monica Esteve, Natalia Garcia-Giralt, Nuria Martinez-Gil, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100935- (2021)
Externí odkaz:
https://doaj.org/article/914f24b1ce72468e88ef67e769b4bb6a
Autor:
Hana Susak, Laura Serra-Saurina, German Demidov, Raquel Rabionet, Laura Domènech, Mattia Bosio, Francesc Muyas, Xavier Estivill, Geòrgia Escaramís, Stephan Ossowski
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 2, p e1007784 (2021)
Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates the association of rare vari
Externí odkaz:
https://doaj.org/article/54394f1fe61b4efea767e89a29b01672
Autor:
Nerea Ugartondo, Núria Martínez-Gil, Mònica Esteve, Natàlia Garcia-Giralt, Neus Roca-Ayats, Diana Ovejero, Xavier Nogués, Adolfo Díez-Pérez, Raquel Rabionet, Daniel Grinberg, Susanna Balcells
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7395 (2021)
Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a rare adverse effect, may appear after prolonged BP administration. Given
Externí odkaz:
https://doaj.org/article/afc41b05c7534d538dfe5d6b024a6db9
Autor:
Laura Castilla-Vallmanya, Semra Gürsoy, Özlem Giray-Bozkaya, Aina Prat-Planas, Gemma Bullich, Leslie Matalonga, Mónica Centeno-Pla, Raquel Rabionet, Daniel Grinberg, Susanna Balcells, Roser Urreizti
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1549 (2021)
We present a Turkish family with two cousins (OC15 and OC15b) affected with syndromic developmental delay, microcephaly, and trigonocephaly but with some phenotypic traits distinct between them. OC15 showed asymmetrical skeletal defects and syndactyl
Externí odkaz:
https://doaj.org/article/585dd477d6b144c6952a22402ad3e02f