Browsing by Author "Grinberg, Daniel"

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  • Urreizti, Roser; Cueto González, Anna María; Franco Valls, Héctor; Mort Farre, Sílvia; Roca Ayats, Neus; Ponomarenko, Julia; Cozzuto, Luca; Company, Carlos; Bosio, Mattia; Ossowski, Stephan; Montfort, Magda; Hecht, Jochen; Tizzano, Eduardo F.; Cormand, Bru; Vilageliu, Lluïsa; Opitz, John M.; Neri, Giovanni; Grinberg, Daniel; Balcells, Susana (Nature Publishing Group, 2017)
    Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability, and variable cardiac defects with a high mortality rate. Different ...
  • Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, Anna; García-Giralt, Natalia; Diez Pérez, Adolfo; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Grinberg, Daniel; Balcells, Susana (Nature Research, 2018)
    Numerous GWAS and candidate gene studies have highlighted the role of the Wnt pathway in bone biology. Our objective has been to study in detail the allelic architecture of three Wnt pathway genes: WNT16, DKK1 and SOST, ...
  • Garcia Giralt, Natàlia; Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Güerri Fernández, Roberto; Grinberg, Daniel; Nogués Solán, Xavier; Mellibovsky, Leonardo; Balcells, Susana; Díez Pérez, Adolfo (Sociedad Española de Investigación Ósea y del Metabolismo Mineral (SEIOMM), 2016)
    Objetivos: Identificar microRNAs (miRNAs) diferencialmente expresados en muestras óseas con fractura osteoporótica respecto a huesos sanos. Material y métodos: Se extrajo RNA total a partir de hueso trabecular fresco del ...
  • Ugarte Corbalán, Laura de, 1988-; Serra-Vinardell, Jenny; Nonell Mazelón, Lara; Balcells, Susana; Arnal, Magdalena; Nogués Solan, Francesc Xavier; Mellibovsky, Leonardo; Grinberg, Daniel; Díez Pérez, Adolfo; Garcia Giralt, Natàlia (Springer, 2018)
    Bone tissue is composed of several cell types, which express their own microRNAs (miRNAs) that will play a role in cell function. The set of total miRNAs expressed in all cell types configures the specific signature of the ...
  • Roca Ayats, Neus; Ng, Pei Ying; García-Giralt, Natalia; Falcó-Mascaró, Maite; Cozar, Mónica; Abril Ferrando, Josep Francesc; Quesada-Gómez, J.M.; Prieto-Alhambra, Daniel; Nogués Solan, Francesc Xavier; Dunford, James E.; Russell, R. Graham; Baron, Roland; Grinberg, Daniel; Balcells, Susana; Díez Pérez, Adolfo (Wiley, 2018)
    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 ...
  • Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Balcells, Susana; Güerri Fernández, Roberto; Martinez-Diaz, Santos; Mellibovsky, Leonardo; Urreizti, Roser; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Garcia Giralt, Natàlia; Díez Pérez, Adolfo (BioMed Central, 2015)
    BACKGROUND: MicroRNAs (miRNAs) are important regulators of gene expression, with documented roles in bone metabolism and osteoporosis, suggesting potential therapeutic targets. Our aim was to identify miRNAs differentially ...
  • Gómez Grau, Marta; Albaigès, Júlia; Casas, Josefina; Auladell, Carme; Dierssen, Mara; Vilageliu, Lluïsa; Grinberg, Daniel (Nature Publishing Group, 2017)
    Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is characterised by the defective lysosomal secretion of cholesterol ...
  • Ugarte Corbalán, Laura de, 1988-; Balcells, Susana; Nogués Solán, Francesc Xavier; Grinberg, Daniel; Díez Pérez, Adolfo; Garcia Giralt, Natàlia (Public Library of Science (PLoS), 2018)
    MicroRNAs (miRNAs) are important regulators of many cellular processes, including the differentiation and activity of osteoblasts, and therefore, of bone turnover. MiR-320a is overexpressed in osteoporotic bone tissue but ...
  • Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru (Wiley, 2013)
    Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have ...
  • Zheng, Hou-Feng; Calderari, Sophie; Grinberg, Daniel; Gauguier, Dominique; Richards, J. Brent (Nature Publishing Group, 2015)
    The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) ...