Browsing by Author "Roca Ayats, Neus"

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  • A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes
    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 ...
  • 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 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, ...
  • 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 Pérez, 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 a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types
    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 ...
  • 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 ...