Search Results - "Balcells Susana"

Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress by De-Ugarte, Laura, Balcells, Susana, Nogues, Xavier, Grinberg, Daniel, Diez-Perez, Adolfo, Garcia-Giralt, Natalia

“…MicroRNAs (miRNAs) are important regulators of many cellular processes, including the differentiation and activity of osteoblasts, and therefore, of bone…”
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Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study by Garcia-Giralt, Natalia, Rodríguez-Sanz, María, Prieto-Alhambra, Daniel, Servitja, Sonia, Torres-del Pliego, Elisa, Balcells, Susana, Albanell, Joan, Grinberg, Daniel, Diez-Perez, Adolfo, Tusquets, Ignasi, Nogués, Xavier

“…A major side effect of aromatase inhibitor (AI) therapy is AI-related arthralgia (AIA), which often leads to therapy discontinuation. We aimed to identify…”
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Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women by Sarrión, Patricia, Mellibovsky, Leonardo, Urreizti, Roser, Civit, Sergi, Cols, Neus, García-Giralt, Natàlia, Yoskovitz, Guy, Aranguren, Alvaro, Malouf, Jorge, Di Gregorio, Silvana, Río, Luís Del, Güerri, Roberto, Nogués, Xavier, Díez-Pérez, Adolfo, Grinberg, Daniel, Balcells, Susana

“…The aims of the study were to establish the prevalence of high bone mass (HBM) in a cohort of Spanish postmenopausal women (BARCOS) and to assess the…”
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Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures by Ruiz-Gaspa, Silvia, Nogues, Xavier, Enjuanes, Anna, Monllau, Joan C., Blanch, Josep, Carreras, Ramon, Mellibovsky, Leonardo, Grinberg, Daniel, Balcells, Susana, Díez-Perez, Adolfo, Pedro-Botet, Juan

“…To clarify the mechanism of the stimulatory effect of statins on bone formation, we have assessed the effect of simvastatin and atorvastatin on osteoblast…”
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Expression profiling of microRNAs in human bone tissue from postmenopausal women by De-Ugarte, Laura, Serra-Vinardell, Jenny, Nonell, Lara, Balcells, Susana, Arnal, Magdalena, Nogues, Xavier, Mellibovsky, Leonardo, Grinberg, Daniel, Diez-Perez, Adolfo, Garcia-Giralt, Natalia

“…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…”
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MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones by De-Ugarte, Laura, Yoskovitz, Guy, Balcells, Susana, Güerri-Fernández, Robert, Martinez-Diaz, Santos, Mellibovsky, Leonardo, Urreizti, Roser, Nogués, Xavier, Grinberg, Daniel, García-Giralt, Natalia, Díez-Pérez, Adolfo

“…MicroRNAs (miRNAs) are important regulators of gene expression, with documented roles in bone metabolism and osteoporosis, suggesting potential therapeutic…”
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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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Case report of a child bearing a novel deleterious splicing variant in PIGT by Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P, Urreizti, Roser

“…Trio family-based whole exome sequencing (WES) is a powerful tool in the diagnosis of rare neurodevelopmental diseases, even in patients with the unclear…”
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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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Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones by De-Ugarte, Laura, Yoskovitz, Guy, Balcells, Susana, Güerri-Fernández, Robert, Martinez-Diaz, Santos, Mellibovsky, Leonardo, Urreizti, Roser, Nogués, Xavier, Grinberg, Daniel, García-Giralt, Natalia, Díez-Pérez, Adolfo

“…Funding for the work carried out in this article [1] was supported by grant FIS PI10/01537 and the Red Tematica de Investigacion Cooperativa en Envejecimiento…”
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A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome by Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

“…De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C…”
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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR by Dean, Michael, Ayuso, Carmen, Allikmets, Rando, Balcells, Susana, Paloma, Eva, Río, Teresa del, Gonzàlez-Duarte, Roser, Vilageliu, Lluísa, Martínez-Mir, Amalia

“…Retinitis pigmentosa (RP) denotes a group of inherited eye disorders characterized by loss of rod photoreceptor function, leading to a progressive degeneration…”
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Haplotypes Defined by Promoter and Intron 1 Polymorphisms of the COLIA1 Gene Regulate Bone Mineral Density in Women by Stewart, Tracy L., Jin, Huilin, McGuigan, Fiona E. A., Albagha, Omar M. E., Garcia-Giralt, Natalia, Bassiti, Amelia, Grinberg, Daniel, Balcells, Susana, Reid, David M., Ralston, Stuart H.

“…Context: The COLIA1 gene is a strong candidate for susceptibility to osteoporosis. The causal genetic variants are currently unclear, but the most likely are…”
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A Haplotype‐Based Analysis of the LRP5 Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women by Agueda, Lídia, Bustamante, Mariona, Jurado, Susana, Garcia‐Giralt, Natalia, Ciria, Manel, Saló, Guillem, Carreras, Ramon, Nogués, Xavier, Mellibovsky, Leonardo, Díez‐Pérez, Adolfo, Grinberg, Daniel, Balcells, Susana

“…LRP5 encodes the low‐density lipoprotein receptor‐related protein 5, a transmembrane protein involved in Wnt signaling. LRP5 is an important regulator of…”
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Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain by Soriano, Joan B, Fernández Vázquez, Sara, Carretero, Silvia, Puga González, María Dolores, Soriano, Cecilia, Romaguera, Dora, Alonso-Fernández, Alberto, Busquets, Xavier, Balcells, Susana, Grinberg, Daniel, Poulain, Michel

“…Aim We aimed to determine whether there was a Blue Zone, an area characterized by extreme longevity, in Menorca, Spain. Methods We explored official statistics…”
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Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients by Cozar, Mónica, Urreizti, Roser, Vilarinho, Laura, Grosso, Carola, Dodelson de Kremer, Raquel, Asteggiano, Carla G., Dalmau, Jaime, García, Ana María, Vilaseca, María Antonia, Grinberg, Daniel, Balcells, Susana

“…Homocystinuria due to CBS deficiency is a rare autosomal recessive disorder characterized by elevated plasma levels of homocysteine (Hcy) and methionine (Met)…”
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ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins by Hjelmqvist, Lars, Tuson, Miquel, Marfany, Gemma, Herrero, Enric, Balcells, Susana, Gonzàlez-Duarte, Roser

“…Annotations of completely sequenced genomes reveal that nearly half of the genes identified are of unknown function, and that some belong to uncharacterized…”
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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America by Urreizti, Roser, Asteggiano, Carla, Bermudez, Marta, Córdoba, Alfonso, Szlago, Mariana, Grosso, Carola, de Kremer, Raquel Dodelson, Vilarinho, Laura, D'Almeida, Vania, Martínez-Pardo, Mercedes, Peña-Quintana, Luís, Dalmau, Jaime, Bernal, Jaime, Briceño, Ignacio, Couce, María Luz, Rodés, Marga, Vilaseca, Maria Antonia, Balcells, Susana, Grinberg, Daniel

“…Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been…”
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Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America by Urreizti, Roser, Asteggiano, Carla, Bermudez, Marta, Córdoba, Alfonso, Szlago, Marina, Grosso, Carola, de Kremer, Raquel Dodelson, Vilarinho, Laura, D'Almeida, Vania, Martínez-Pardo, Mercedes, Peña-Quintana, Luís, Dalmau, Jaime, Bernal, Jaime, Briceño, Ignacio, Couce, María Luz, Rodés, Marga, Vilaseca, Maria Antonia, Balcells, Susana, Grinberg, Daniel

“…In this article, one of the novel mutations, c.208_209+ 8del10, was incorrectly given as c.69_70+8del10. It corresponds to patient 64 in Table 4…”
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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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