Search Results - "Grinberg Vaisman, Daniel Raúl"

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture by Grinberg Vaisman, Daniel Raúl, Garcia Giralt, Natàlia

“…The extent to which low‐frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the…”
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Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress by Ugarte, Laura de, Balcells Comas, Susana, Nogués, Xavier, Grinberg Vaisman, Daniel Raúl, Díez Pérez, Adolf, García 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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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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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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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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New murine Niemann-Pick type C models bearing a pseudoexongenerating mutation recapitulate the main neurobehavioural and molecular features of the disease by Gómez Grau, Marta, Albaigès, Júlia, Casas, Josefina, Auladell i Costa, M. Carme, Dierssen, Mara, Vilageliu i Arqués, Lluïsa, Grinberg Vaisman, Daniel Raúl

“…Niemann-Pick disease type C (NPC) is a rare neurovisceral disease caused mainly by mutations in the NPC1 gene. This autosomal recessive lysosomal disorder is…”
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EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome by Canals, Isaac, Benetó, Noelia, Cozar, Mónica, Vilageliu, Lluïsa, Grinberg, Daniel

“…Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents severe and progressive…”
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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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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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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases by Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A, Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa

“…Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of…”
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Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations by Matos, Liliana, Canals, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R, Pérez, Belén, Pshezhetsky, Alexey V, Grinberg, Daniel, Alves, Sandra, Vilageliu, Lluïsa

“…Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes…”
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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.

“…Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have…”
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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 broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG by Delgado, M. A., Martinez-Domenech, G., Sarrión, P., Urreizti, R., Zecchini, L., Robledo, H. H., Segura, F., de Kremer, R. Dodelson, Balcells, S., Grinberg, D., Asteggiano, C. G.

“…Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O -linked glycosylation disorder characterized by the formation of multiple…”
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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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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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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión Pérez-Caballero, Patricia, Sangorrin, A, Urreizti Frexedas, Roser, Delgado, A, Artuch Iriberri, Rafael, Martorell, L, Armstrong i Morón, Judith, Antón López, Jordi, Torner Rubies, Ferran, Vilaseca, M.A, Nevado, J, Lapunzina, P, Asteggiano, Carla, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl

“…Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have…”
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Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas by Sarrión Pérez-Caballero, Patricia, Sangorrin, A, Urreizti Frexedas, Roser, Delgado, A, Artuch Iriberri, Rafael, Martorell, L, Armstrong i Morón, Judith, Antón López, Jordi, Torner Rubies, Ferran, Vilaseca, M.A, Nevado, J, Lapunzina, P, Asteggiano, Carla, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl

“…Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have…”
Get full text