Browsing by Author "Martínez-Gil, Núria"

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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, ...
  • Functional analyses of four CYP1A1 missense mutations present in patients with atypical femoral fractures
    Ugartondo, Nerea; Martínez-Gil, Núria; Esteve, Mònica; Garcia Giralt, Natàlia; Roca Ayats, Neus; Ovejero Crespo, Diana; Nogués Solan, Francesc Xavier; Díez Pérez, Adolfo; Rabionet, Raquel; Grinberg, Daniel; Balcells, Susana (MDPI, 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 ...
  • 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 ...
  • Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment
    Garcia Giralt, Natàlia; Roca Ayats, Neus; Abril Ferrando, Josep Francesc; Martínez-Gil, Núria; Ovejero Crespo, Diana; Castañeda, Santos; Nogués Solan, Francesc Xavier; Grinberg, Daniel; Balcells, Susana; Rabionet, Raquel (MDPI, 2022)
    Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of AFF is still unclear even though a ...
  • 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, ...
  • 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, ...