Browsing by Author "Mellibovsky, Leonardo"

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  • Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
    Martínez-Gil, Núria; Roca Ayats, Neus; Monistrol-Mula, Anna; García-Giralt, Natalia; Diez-Perez, 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, ...
  • Estudio del patrón de expresión de microRNAs en el hueso osteoporótico
    Garcia Giralt, Natàlia; Ugarte Corbalán, Laura de, 1988-; Yoskovitz, Guy; Güerri Fernández, Roberto; Grinberg, Daniel; Nogués Solan, Francesc 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 ...
  • Expression profiling of microRNAs in human bone tissue from postmenopausal women
    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 ...
  • Functional assessment of coding and regulatory variants from the DKK1 locus
    Martínez-Gil, Núria; Roca Ayats, Neus; Atalay, Nurgül; Pineda-Moncusí, Marta; Garcia Giralt, Natàlia; Van Hul, Wim; Boudin, Eveline; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Diez-Perez, Adolfo; Grinberg, Daniel; Balcells, Susana (Wiley, 2020)
    The DKK1 gene encodes an extracellular inhibitor of the Wnt pathway with an important role in bone tissue development, bone homeostasis, and different critical aspects of bone biology. Several BMD genome-wide association ...
  • Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3
    Roca Ayats, Neus; Martínez-Gil, Núria; Cozar, Mónica; Gerousi, Marina; Garcia Giralt, Natàlia; Ovejero Crespo, Diana; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Grinberg, Daniel; Balcells, Susana (Elsevier, 2019)
    Genome-wide association studies (GWAS) have repeatedly identified genetic variants associated with bone mineral density (BMD) and osteoporotic fracture in non-coding regions of C7ORF76, a poorly studied gene of unknown ...
  • Genetic analysis in a familial case with high bone mineral density suggests additive effects at two loci
    Martínez-Gil, Núria; Ovejero Crespo, Diana; Garcia Giralt, Natàlia; Bruque, Carlos David; Mellibovsky, Leonardo; Nogués Solan, Francesc Xavier; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (Wiley, 2022)
    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, ...
  • MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.
    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 ...
  • On the association between Chiari malformation type 1, bone mineral density and bone related genes
    Martínez-Gil, Núria; Mellibovsky, Leonardo; Manzano-López González, Demián; Patiño, Juan David; Cozar, Mónica; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (Elsevier, 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, ...

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