Zobrazeno 1 - 10 of 26 pro vyhledávání: '"Mónica, Cozar"'
1
Akademický článek
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans
Autor: Neus Roca-Ayats, Iago Maceda, Carlos David Bruque, Núria Martínez-Gil, Natàlia Garcia-Giralt, Mónica Cozar, Leonardo Mellibovsky, Wim Van Hul, Oscar Lao, Daniel Grinberg, Susanna Balcells
Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)
Abstract Background The human lineage has undergone a postcranial skeleton gracilization (i.e. lower bone mass and strength relative to body size) compared to other primates and archaic populations such as the Neanderthals. This gracilization has bee
Externí odkaz: https://doaj.org/article/2a5c385622cf4df6aa552691ff00a630
Zobrazit plný text záznamu
2
Akademický článek
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Autor: Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100614- (2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz: https://doaj.org/article/db1b2d148fd249fea79ee6f766ac274f
Zobrazit plný text záznamu
3
Akademický článek
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
Autor: Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu
Publikováno v: PLoS ONE, Vol 10, Iss 8, p e0135873 (2015)
Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of mutation. Geneticin (G418) and gentamicin were among the first to be described. Novel compounds
Externí odkaz: https://doaj.org/article/909ebe48748f44eea94e58b1a585b559
Zobrazit plný text záznamu
4
Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts
Autor: Neus Roca-Ayats, Núria Martínez-Gil, Xavier Nogués, Natalia Garcia-Giralt, Daniel Grinberg, Diana Ovejero, Susanna Balcells, Mónica Cozar
Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International Journal of Molecular Sciences, Vol 22, Iss 489, p 489 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 2
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
SOST encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal development and bone homeostasis. The objective of this work was to assess the functionality of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c7b0ef85f8736bcf9dd1bb81729406
http://hdl.handle.net/2445/174618
Zobrazit plný text záznamu
5
Genetics and Genomics of
Autor: Núria, Martínez-Gil, Neus, Roca-Ayats, Mónica, Cozar, Natàlia, Garcia-Giralt, Diana, Ovejero, Xavier, Nogués, Daniel, Grinberg, Susanna, Balcells
Publikováno v: International Journal of Molecular Sciences
SOST encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal development and bone homeostasis. The objective of this work was to assess the functionality of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c19fe2c96de5309e7fb6f26e60393ca9
https://pubmed.ncbi.nlm.nih.gov/33419004
Zobrazit plný text záznamu
6
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Autor: E. Dimitriou, Jenny Serra-Vinardell, Lluïsa Vilageliu, Irene Mavridou, Helen Michelakakis, Mónica Cozar, Daniel Grinberg, Marina Moraitou
Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100614-(2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa91b1d3e287b6d58d7692b7ff67419b
http://europepmc.org/articles/PMC7284128
Zobrazit plný text záznamu
8
Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types
Autor: Maite Falcó-Mascaró, Neus Roca-Ayats, James E. Dunford, Daniel Prieto-Alhambra, Roland Baron, Susana Balcells, Natalia Garcia-Giralt, Daniel Grinberg, Mónica Cozar, Josep F. Abril, Adolfo Diez-Perez, R. Graham G. Russell, José Manuel Quesada Gómez, Pei Ying Ng, Xavier Nogués
Publikováno v: Journal of Bone and Mineral Research. 33:2091-2098
Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not always linked to bisphosphonate (BP) therapy. The pathogenic mechanisms underlying AFFs remain obscure, and there are no tests available that might assist i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40594a51a0ae268baf1237a9c97c7ff9
https://doi.org/10.1002/jbmr.3580
Zobrazit plný text záznamu
9
Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample
Autor: Laura Pineda-Cirera, Noèlia Fernàndez-Castillo, Alfonso C. Abad, Nieves Martínez-Luna, María Robles-Martínez, Josep Antoni Ramos-Quiroga, Bru Cormand, Miquel Casas, Marta Ribasés, Judit Cabana-Domínguez, Carlos Roncero, Cristina Sánchez-Mora, Lara Grau-López, Mónica Cozar
Publikováno v: Drug and Alcohol Dependence
Background Substance dependence is a chronic and relapsing disorder explained by genetic and environmental risk factors. The aim of our study is to replicate previous genome-wide significant (GWS) hits identified in substance dependence in general or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576c5bfab318140855e1169ee8714481
https://doi.org/10.1016/j.drugalcdep.2018.03.013
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje