Resultats globals: 13 registres trobats en 0.02 segons.
Articles, 10 registres trobats
Documents de recerca, 3 registres trobats
Articles 10 registres trobats  
1.
10 p, 666.8 KB Clinical management and outcome of patients with advanced NSCLC carrying EGFR mutations in Spain / Arriola, Edurne (Hospital del Mar (Barcelona, Catalunya)) ; García Gómez, Ramón (Hospital General Universitario Gregorio Marañón) ; Diz Taín, Pilar (Hospital Universitario de León) ; Majem, Margarita (Institut d'Investigació Biomèdica Sant Pau) ; Martínez Aguillo, Maite (Complejo Hospitalario de Navarra) ; Valdivia, Javier (Hospital Universitario Virgen de las Nieves (Granada)) ; Paredes, Alfredo (Hospital de Donostia (Sant Sebastià, País Basc)) ; Sánchez-Torres, José Miguel (Hospital Universitario de la Princesa (Madrid)) ; Peralta Muñoz, Sergio (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Barneto Aranda, Isidoro (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Gutierrez, Vanesa (Hospital Regional Universitario Carlos Haya (Málaga)) ; Andrade Santiago, Jesús Manuel (Hospital Virgen de la Salud (Toledo)) ; Aparisi, Francisco (Hospital Virgen de los Lirios) ; Isla, Dolores (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Ponce, Santiago (Hospital 12 de Octubre (Madrid)) ; Vicente Baz, David (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ; Artal, Ángel (Hospital Universitario Miguel Servet (Saragossa)) ; Amador, Mariluz (AstraZeneca) ; Provencio, Mariano (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Universitat Autònoma de Barcelona
Although the benefit of first-line epidermal growth factor receptor (EGFR) tyrosine-kinase inhibitors (TKIs) over chemotherapy has been demonstrated in several clinical trials, data from clinical practice is lacking and the optimal EGFR TKI to be used remains unclear. [...]
2018 - 10.1186/s12885-018-4004-7
BMC Cancer, Vol. 18 Núm. 1 (30 2018) , p. 106  
2.
11 p, 5.0 MB Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses / Chacón-Solano, Esteban (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; León Canseco, Carlos (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; Díaz, F. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; García-García, Francisco (Bioinformatics and Biostatistics Unit. Centro de Investigación Príncipe Felipe (CIPF)) ; García, M. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ; Escámez Toledano, María José (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ; Guerrero-Aspizua, Sara (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ; Conti, C.J. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; Mencía, None (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; Martínez-Santamaría, L. (Regenerative Medicine and Tissue Engineering Group. Fundación Jiménez Díaz (IIS-FJD)) ; Llames, S. (Tissue Engineering Unit. Centro Comunitario Sangre y Tejidos (CCST)) ; Pévida, M. (Tissue Engineering Unit. Centro Comunitario Sangre y Tejidos (CCST)) ; Carbonell-Caballero, J. (Department of Computational Genomics. Centro de Investigación Príncipe Felipe (CIPF)) ; Puig-Butille, Joan Anton (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Maseda, R. (Department of Pediatric Dermatology. La Paz Hospital) ; Puig, Susana (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; de Lucas, R. (Department of Pediatric Dermatology. La Paz Hospital) ; Baselga Torres, Eulàlia (Institut d'Investigació Biomèdica Sant Pau) ; Larcher, F. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714)) ; Dopazo, J. (Bioinformatics in Rare Diseases (BiER-U715). CIBERER. FPS. Hospital Virgen del Rocío) ; del Río, M. (Epithelial Biomedicine Division. CIEMAT-CIBERER (U714))
Background: Recessive dystrophic epidermolysis bullosa (RDEB), Kindler syndrome (KS) and xeroderma pigmentosum complementation group C (XPC) are three cancer-prone genodermatoses whose causal genetic mutations cannot fully explain, on their own, the array of associated phenotypic manifestations. [...]
2019 - 10.1111/bjd.17698
British journal of dermatology, Vol. 181 Núm. 3 (january 2019) , p. 512-522  
3.
15 p, 9.2 MB Morphologically different hydroxyapatite nanoparticles exert differential genotoxic effects in Drosophila / Güneş, Merve (Akdeniz University. Department of Biology) ; Yalçın, Burçin (Akdeniz University. Department of Biology) ; Burgazlı, Ayşen Yağmur (Akdeniz University. Department of Biology) ; Tagorti, Ghada (Akdeniz University. Department of Biology) ; Yavuz, Emre (Akdeniz University. Department of Chemistry) ; Akarsu, Esin (Akdeniz University. Department of Chemistry) ; Kaya, Nuray (Akdeniz University. Department of Biology) ; Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Kaya, Bülent (Akdeniz University. Department of Biology)
Hydroxyapatite (HAP) occurs naturally in sedimentary and metamorphic rocks and constitutes the hard structures in many organisms. Since synthetic nano-sized HAP (HAP-NPs) are used in orthopedic applications and for heavy metal remediation in aquatic and terrestrial media, both environment and humans are exposed to them. [...]
2023 - 10.1016/j.scitotenv.2023.166556
Science of the total environment, Vol. 904 (December 2023) , art. 166556  
4.
12 p, 3.6 MB DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load / Jung, H. (Department of Bio and Brain Engineering. KAIST) ; Kim, H. S. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ; Kim, J. Y. (Department of Bio and Brain Engineering. KAIST) ; Sun, J. M. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ; Ahn, Jin Seop (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ; Ahn, M. J. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ; Park, K. (Division of Hematology/Oncology. Department of Medicine. Samsung Medical Center. Sungkyunkwan University School of Medicine) ; Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Lee, S. H. (Department of Health Sciences and Technology. Samsung Advanced Institute of Health Science and Technology. Sungkyunkwan University) ; Choi, J. K. (Penta Medix Co.. Ltd.) ; Universitat Autònoma de Barcelona
Mitotic cell division increases tumour mutation burden and copy number load, predictive markers of the clinical benefit of immunotherapy. Cell division correlates also with genomic demethylation involving methylation loss in late-replicating partial methylation domains. [...]
2019 - 10.1038/s41467-019-12159-9
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4278  
5.
13 p, 4.7 MB Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis / Agraz-Doblás, Antonio (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Rogers, R. B. (Department of Medicine. University of Cambridge. Cambridge Biomedical Campus) ; Roy, A. (Department of Paediatrics. University of Oxford) ; Schneider, P. (Princess Maxima Center for Pediatric Oncology) ; Bardini, Michela (Università degli Studi di Milano-Bicocca) ; Ballerini, Paola (Pediatric Hematology. A. Trousseau Hospital) ; Cazzaniga, Giovanni (Centro Ricerca Tettamanti. Department of Pediatrics. University of Milano Bicocca. Fondazione MBBM) ; Moreno, T. (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ; Revilla, C. (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ; Gut, Marta (Universitat Pompeu Fabra) ; Valsecchi, M. G. (Interfant Trial Data Center. University of Milano-Bicocca) ; Roberts, I. (MRC Molecular Haematology Unit. MRC Weatherall Institute of Molecular Medicine. University of Oxford) ; Pieters, R. (Princess Maxima Center for Pediatric Oncology) ; De Lorenzo, P. (Interfant Trial Data Center. University of Milano-Bicocca) ; Varela, Ignacio (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ; Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Stam, R. W. (Princess Maxima Center for Pediatric Oncology) ; Universitat Autònoma de Barcelona
Bcell acute lymphoblastic leukemia is the commonest childhood cancer. In infants, B-cell acute lymphoblastic leukemia remains fatal, especially in patients with t(4;11), present in ~80% of cases. The pathogenesis of t(4;11)/KMT2A-AFF1 (MLL-AF4) infant B-cell acute lymphoblastic leukemia remains difficult to model, and the pathogenic contribution in cancer of the reciprocal fusions resulting from derivative translocated-chromosomes remains obscure. [...]
2019 - 10.3324/haematol.2018.206375
Haematologica, Vol. 104 Núm. 6 (2019) , p. 1176-1188  
6.
13 p, 3.4 MB Overexpression of the vascular brassinosteroid receptor BRL3 confers drought resistance without penalizing plant growth / Fábregas, Norma (Centre de Recerca en Agrigenòmica) ; Lozano Elena, Fidel (Centre de Recerca en Agrigenòmica) ; Blasco Escámez, David (Centre de Recerca en Agrigenòmica) ; Tohge, Takayuki (NAIST Graduate school of Biological Sciences) ; Martínez Andújar, Cristina (CEBAS-CSIC) ; Albacete, Alfonso (CEBAS-CSIC) ; Osorio, Sonia (Universidad de Málaga) ; Bustamante Montoya, Mariana (Centre de Recerca en Agrigenòmica) ; Riechmann, José Luis (Centre de Recerca en Agrigenòmica) ; Nomura, Takahito (Utsunomiya University) ; Yokota, Takao (Teikyo University) ; Conesa, Ana (University of Florida) ; Pérez Alfocea, Francisco (CEBAS-CSIC) ; Fernie, Alisdair (Max Planck Institute of Molecular Plant Physiology) ; Caño Delgado, Ana I. (Centre de Recerca en Agrigenòmica)
Drought represents a major threat to food security. Mechanistic data describing plant responses to drought have been studied extensively and genes conferring drought resistance have been introduced into crop plants. [...]
2018 - 10.1038/s41467-018-06861-3
Nature communications, Vol. 9 (November 2018) , art. 4680  
7.
14 p, 652.3 KB Adaptive evolution is substantially impeded by Hill-Robertson interference in Drosophila / Castellano Esteve, David (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Coronado-Zamora, Marta (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Campos, Jose L. (University of Edinburgh. Institute of Evolutionary Biology, School of Biological Sciences) ; Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Eyre-Walker, Adam (University of Sussex. Centre for the Study of Evolution, School of Life Sciences) ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
Hill-Robertson interference (HRi) is expected to reduce the efficiency of natural selection when two or more linked selected sites do not segregate freely, but no attempt has been done so far to quantify the overall impact of HRi on the rate of adaptive evolution for any given genome. [...]
2015 - 10.1093/molbev/msv236
Molecular biology and evolution, Vol. 33, Núm. 2 (October 2015) , p. 442-455  
8.
14 p, 4.7 MB A novel sigma factor reveals a unique regulon controlling cell-specific recombination in Mycoplasma genitalium / Torres Puig, Sergi (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Broto, Alicia (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Querol Murillo, Enrique (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Piñol Ribas, Jaume (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Pich, Oscar Q. (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
The Mycoplasma genitalium MG428 protein shows homology to members of the sigma-70 family of sigma factors. Herein, we found that MG428 activates transcription of recA, ruvA and ruvB as well as several genes with unknown function. [...]
2015 - 10.1093/nar/gkv422
Nucleic acids research, Vol. 43 (april 2015) , p. 4923-4936  
9.
18 p, 638.8 KB Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution / Guillén, Yolanda (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ruiz, Alfredo, (Ruiz Panadero) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D. mojavensis, an ecological specialist adapted to a cactophilic niche under extreme desert conditions, is a chromosomally derived species with ten fixed inversions, five of them not present in any other species. [...]
2012 - 10.1186/1471-2164-13-53
BMC genomics, Vol. 13 (2012) , art. 53  
10.
9 p, 869.4 KB Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women / Sarrion, Patricia (Universitat de Barcelona. Departament de Genètica) ; Mellibovsky, Leonardo (Hospital del Mar (Barcelona, Catalunya)) ; Urreizti, Roser (Universitat de Barcelona. Departament de Genètica) ; Civit, Sergi (Universitat de Barcelona. Departament d'Estadística) ; Cols, Neus (Universitat de Barcelona. Departament de Genètica) ; Garcia-Giralt, Natalia (Hospital del Mar (Barcelona, Catalunya)) ; Yoskovitz, Guy (Hospital del Mar (Barcelona, Catalunya)) ; Aranguren, Álvaro (Universitat de Barcelona. Departament de Genètica) ; Malouf Sierra, Jorge 1971- (Institut d'Investigació Biomèdica Sant Pau) ; Di Gregorio, Silvana (Instituto de Salud Carlos III) ; Del Rio, Luis (Instituto de Salud Carlos III) ; Güerri-Fernández, Robert (Hospital del Mar (Barcelona, Catalunya)) ; Nogués Solán, Xavier (Hospital del Mar (Barcelona, Catalunya)) ; Díez Pérez, Adolfo (Hospital del Mar (Barcelona, Catalunya)) ; Grinberg, Daniel (Universitat de Barcelona. Departament de Genètica) ; Balcells, Susana (Universitat de Barcelona. Departament de Genètica) ; Universitat Autònoma de Barcelona
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 contribution of LRP5 and DKK1 mutations and of common bone mineral density (BMD) variants to a HBM phenotype. [...]
2014 - 10.1371/journal.pone.0094607
PloS one, Vol. 9 Issue 4 (April 2014) , p. e94607  

Documents de recerca 3 registres trobats  
1.
15 p, 2.0 MB Sistema d'integració, visualització i anàlisi de dades genètiques pel seguiment de malalties minoritàries / Pol Esteve, Laura ; Martí Godia, Enric, dir. (Universitat Autònoma de Barcelona. Departament de Ciències de la Computació) ; Universitat Autònoma de Barcelona. Escola d'Enginyeria
La identificació de canvis en la seqüència o l'estructura de l'ADN pot conduir a determinar la causa que hi ha darrera de l'aparició d'una malaltia genètica. Diferents tècniques d'anàlisis de l'ADN han esdevingut rutinàries en la majoria de centres hospitalaris i centres de recerca per a l'estudi simultani dels gens que conté el genoma humà. [...]
La identificación de cambios en la secuencia o estructura del ADN puede conducir a determinar la causa que hay detrás de la aparición de una enfermedad genética. Diferentes técnicas de análisis del ADN se han convertido en rutinarias en la mayoría de centros hospitalarios y centros de investigación para el estudio simultáneo de los genes que contiene el genoma humano. [...]
The identification of changes in the sequence or structure of DNA can lead to determining the cause behind the occurrence of a genetic disease. Different DNA analysis techniques have become routine in most hospitals and research centers for the simultaneous study of the genes contained in the human genome. [...]

2022
Enginyeria de Dades [1394]  
2.
2 p, 8.5 MB Permanent and reliable inactivation of Huntington's disease mutation via customized CRISPR/SaCas9 gene editing / Vinyes i Bassols, Gal·la ; Universitat Autònoma de Barcelona. Facultat de Biociències
Allele-specific CRISPR/SaCas9 gene editing therapy targeting the mutated HTT exon-1 would decrease the formation of mHTT aggregates reducing the neuronal dysfunction and striatum atrophy.
2021
Grau en Biotecnologia [815]  
3.
1 p, 4.8 MB Laminopathies : the nuclear lamina alteration / Mir Pérez, Cristina ; Benet i Català, Jordi, dir. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Universitat Autònoma de Barcelona. Facultat de Biociències
2015
Grau en Ciències Biomèdiques [832]  

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