Search Results - "Roca‐Ayats, Neus"

Bone development and remodeling in metabolic disorders by Serra‐Vinardell, Jenny, Roca‐Ayats, Neus, De‐Ugarte, Laura, Vilageliu, Lluïsa, Balcells, Susanna, Grinberg, Daniel

“…There are many metabolic disorders that present with bone phenotypes. In some cases, the pathological bone symptoms are the main features of the disease…”
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Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone‐Relevant Cell Types by Roca‐Ayats, Neus, Ng, Pei Ying, Garcia‐Giralt, Natàlia, Falcó‐Mascaró, Maite, Cozar, Mónica, Abril, Josep Francesc, Quesada Gómez, José Manuel, Prieto‐Alhambra, Daniel, Nogués, Xavier, Dunford, James E, Russell, R Graham, Baron, Roland, Grinberg, Daniel, Balcells, Susana, Díez‐Pérez, Adolfo

“…ABSTRACT Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not always linked to bisphosphonate (BP) therapy. The…”
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Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus by Martínez‐Gil, Núria, Roca‐Ayats, Neus, Atalay, Nurgül, Pineda‐Moncusí, Marta, Garcia‐Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna

“…ABSTRACT The DKK1 gene encodes an extracellular inhibitor of the Wnt pathway with an important role in bone tissue development, bone homeostasis, and different…”
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Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3 by Roca-Ayats, Neus, Martínez-Gil, Núria, Cozar, Mónica, Gerousi, Marina, Garcia-Giralt, Natàlia, Ovejero, Diana, Mellibovsky, Leonardo, Nogués, Xavier, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna

“…Genome-wide association studies (GWAS) have repeatedly identified genetic variants associated with bone mineral density (BMD) and osteoporotic fracture in…”
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Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures by Ugartondo, Nerea, Martínez-Gil, Núria, Esteve, Mònica, Garcia-Giralt, Natàlia, Roca-Ayats, Neus, Ovejero, Diana, Nogués, Xavier, Díez-Pérez, Adolfo, Rabionet, Raquel, Grinberg, Daniel, Balcells, Susanna

“…Osteoporosis is the most common metabolic bone disorder and nitrogen-containing bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral…”
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Genetics and Genomics of SOST : Functional Analysis of Variants and Genomic Regulation in Osteoblasts by Martínez-Gil, Núria, Roca-Ayats, Neus, Cozar, Mónica, Garcia-Giralt, Natàlia, Ovejero, Diana, Nogués, Xavier, Grinberg, Daniel, Balcells, Susanna

“…encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal…”
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Evolutionary and functional analyses of LRP5 in archaic and extant modern humans by Roca-Ayats, Neus, Maceda, Iago, Bruque, Carlos David, Martínez-Gil, Núria, Garcia-Giralt, Natàlia, Cozar, Mónica, Mellibovsky, Leonardo, Van Hul, Wim, Lao, Oscar, Grinberg, Daniel, Balcells, Susanna

“…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…”
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Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density by Martínez-Gil, Núria, Roca-Ayats, Neus, Monistrol-Mula, Anna, García-Giralt, Natàlia, Díez-Pérez, Adolfo, Nogués, Xavier, Mellibovsky, Leonardo, Grinberg, Daniel, Balcells, Susana

“…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…”
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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 by Urreizti, Roser, Cueto-Gonzalez, Anna Maria, 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

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes by Urreizti, Roser, Roca-Ayats, Neus, Trepat, Judith, Garcia-Garcia, Francisco, Aleman, Alejandro, Orteschi, Daniela, Marangi, Giuseppe, Neri, Giovanni, Opitz, John M., Dopazo, Joaquin, Cormand, Bru, Vilageliu, Lluïsa, Balcells, Susana, Grinberg, Daniel

“…Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring‐Opitz syndrome (BOS or C‐like syndrome) are two rare genetic disorders with phenotypic overlap…”
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Functional assessment of coding and regulatory variants from the DKK1 locus by Martínez-Gil, Núria, Roca-Ayats, Neus, Atalay, Nurgül, Pineda-Moncusí, Marta, Garcia-Giralt, Natàlia, Van Hul, Wim, Boudin, Eveline, Vives, Sergi, Vinardell, Mireia, Mellibovsky, Leonardo, Nogués, Xavier, Ovejero, Diana, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susanna

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GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates by Roca-Ayats, Neus, Balcells, Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró, Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti, Roser, Dopazo, Joaquín, Quesada-Gómez, José M, Nogués, Xavier, Mellibovsky, Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Russell, R. Graham, Grinberg, Daniel, Díez-Pérez, Adolfo

“…This letter describes the detection of GGPS1 and other mutations in three sisters who had atypical femoral fractures associated with long-term bisphosphonate…”
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Gene Network of Susceptibility to Atypical Femoral Fractures Related to Bisphosphonate Treatment by Garcia-Giralt, Natalia, Roca-Ayats, Neus, Abril, Josep F, Martinez-Gil, Nuria, Ovejero, Diana, Castañeda, Santos, Nogues, Xavier, Grinberg, Daniel, Balcells, Susanna, Rabionet, Raquel

“…Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis femoral region associated with long-term bisphosphonate (BP)…”
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GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates: Letter by Roca-Ayats Neus, Balcells Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti Roser, Dopazo Joaquín, Quesada-Gómez, José M, Nogués Xavier, Mellibovsky Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Graham, Russell R, Grinberg, Daniel, Díez-Pérez Adolfo

“…This letter describes the detection of GGPS1 and other mutations in three sisters who had atypical femoral fractures associated with long-term bisphosphonate…”
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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 by Urreizti Frexedas, Roser, Cueto Gonzalez, Anna Maria, 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 Rifà, Bru, Vilageliu i Arqués, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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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 by 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

“…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates by Roca-Ayats, Neus, Balcells, Susana, Garcia-Giralt, Natàlia, Falcó-Mascaró, Maite, Martínez-Gil, Núria, Abril, Josep F, Urreizti, Roser, Dopazo, Joaquín, Quesada-Gómez, José M, Nogués, Xavier, Mellibovsky, Leonardo, Prieto-Alhambra, Daniel, Dunford, James E, Javaid, Muhammad K, Russell, R Graham, Grinberg, Daniel, Díez-Pérez, Adolfo

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