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1.
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22 p, 2.7 MB |
Somatic hypomethylation of pericentromeric sst1 repeats and tetraploidization in human colorectal cancer cells
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González Fernández, Beatriz (Institut Germans Trias i Pujol) ;
Navarro Jiménez, Maria (Institut Germans Trias i Pujol) ;
Alonso De Gennaro, María José (Institut Germans Trias i Pujol) ;
Jansen, Sanne Marcia (Institut Germans Trias i Pujol) ;
Granada, Isabel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Perucho, Manuel (Sanford Burnham Prebys Medical Discovery Institute (SBP)) ;
Alonso, Sergio (Institut Germans Trias i Pujol)
Somatic DNA hypomethylation and aneuploidy are hallmarks of cancer, and there is evidence for a causal relationship between them in knockout mice but not in human cancer. The non-mobile pericentromeric repetitive elements SST1 are hypomethylated in about 17% of human colorectal cancers (CRC) with some 5-7% exhibiting strong age-independent demethylation. [...]
2021 -  10.3390/cancers13215353
Cancers, Vol. 13 Núm. 21 (11-1 2021) , p. 5353
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2.
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14 p, 2.4 MB |
Small molecule inhibitor of OGG1 blocks oxidative DNA damage repair at telomeres and potentiates methotrexate anticancer effects
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Baquero, Juan Miguel (Centro Nacional de Investigaciones Oncológicas) ;
Benítez-Buelga, Carlos (Karolinska Institutet (Estocolm, Suècia)) ;
Rajagopal, Varshni (Karolinska Institutet (Estocolm, Suècia)) ;
Zhenjun, Zhao (Karolinska Institutet (Estocolm, Suècia)) ;
Torres, Raul (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Müller, Sarah (Karolinska Institutet (Estocolm, Suècia)) ;
Hanna, Bishoy M. F. (Karolinska Institutet (Estocolm, Suècia)) ;
Loseva, Olga (Karolinska Institutet (Estocolm, Suècia)) ;
Wallner, Olov (Karolinska Institutet (Estocolm, Suècia)) ;
Michel, Maurice (Karolinska Institutet (Estocolm, Suècia)) ;
Rodriguez-Perales, Sandra (Grupo de Citogenética Molecular. Programa de Genética del Cáncer Humano. Centro Nacional de Investigaciones Oncológicas de España (Madrid)) ;
Gad, Helge (The University of Sheffield) ;
Visnes, Torkild (SINTEF Industry (Noruega)) ;
Helleday, Thomas (The University of Sheffield) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Universitat Autònoma de Barcelona
The most common oxidative DNA lesion is 8-oxoguanine which is mainly recognized and excised by the 8-oxoG DNA glycosylase 1 (OGG1), initiating the base excision repair (BER) pathway. Telomeres are particularly sensitive to oxidative stress (OS) which disrupts telomere homeostasis triggering genome instability. [...]
2021 - 10.1038/s41598-021-82917-7
Scientific reports, Vol. 11 Núm. 1 (december 2021) , p. 3490
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3.
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16 p, 1.6 MB |
Phase 2 Trial (POLA Study) of Lurbinectedin plus Olaparib in Patients with Advanced Solid Tumors : Results of Efficacy, Tolerability, and the Translational Study
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Poveda, Andres (Hospital Quironsalud (Valencia). Oncogynecologic Department) ;
Lopez-Reig, Raquel (Fundació Institut Valencià d'Oncologia) ;
Oaknin, Ana (Vall d'Hebron Institut d'Oncologia) ;
Redondo, Andres (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Rubio, Maria Jesus (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Guerra, Eva (Hospital Universitario Ramón y Cajal (Madrid)) ;
Fariñas-Madrid, Lorena (Vall d'Hebron Institut d'Oncologia) ;
Gallego, Alejandro (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Rodriguez-Freixinos, Victor (Vall d'Hebron Institut d'Oncologia) ;
Fernandez-Serra, Antonio (Fundació Institut Valencià d'Oncologia) ;
Juan, Óscar (Pivotal SLU (Madrid)) ;
Romero, Ignacio (Fundació Institut Valencià d'Oncologia) ;
López-Guerrero, J.A (Fundació Institut Valencià d'Oncologia)
Genomic instability (GI) is a transversal phenomenon in oncology, constituting a hallmark of cancer. In gynecological malignancies, the predictive value of GI has been described and is mainly caused by alterations in the homologous recombination repair (HRR) genes, such as BRCA1/2. [...]
2022 - 10.3390/cancers14040915
Cancers, Vol. 14 Núm. 4 (february 2022)
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4.
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15 p, 2.6 MB |
Interactions of graphene oxide and graphene nanoplatelets with the in vitro Caco-2/HT29 model of intestinal barrier
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Domenech, Josefa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Hernández Bonilla, Alba (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Demir, Esref (Antalya Bilim University. Department of Material Science and Nanotechnology Engineering) ;
Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cortes Crignola, Constanza (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Carbon-based nanomaterials are being increasingly used, demanding strong information to support their safety in terms of human health. As ingestion is one of the most important exposure routes in humans, we have determined their potential risk by using an in vitro model simulating the human intestinal barrier and evaluated the effects of both graphene oxide (GO) and graphene nanoplatelets (GNPs). [...]
2020 - 10.1038/s41598-020-59755-0
Scientific reports, Vol. 10 (February 2020) , art. 2793
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5.
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13 p, 4.7 MB |
Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis
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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
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6.
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11 p, 1.2 MB |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
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Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ;
Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ;
Allen, William (Fullerton Genetics Center, Asheville) ;
Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ;
Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ;
Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ;
Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ;
Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ;
Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ;
Jobling, Rebekah (The Hospital for Sick Children) ;
Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ;
Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ;
Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ;
Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ;
Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ;
Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ;
Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ;
Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ;
Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ;
Stevens, Paul (Cytogenetics Department, Viapath Analytics) ;
Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ;
Turner, Lesley (Memorial University of Newfoundland) ;
Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ;
Wilson, Carolyn (Fullerton Genetics Center) ;
Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ;
Zahavich, Laura (The Hospital for Sick Children) ;
Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ;
Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ;
Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ;
Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ;
Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ;
Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ;
Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ;
GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231
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7.
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11 p, 1.8 MB |
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
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Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Quiles, Paco (Institut Català d'Oncologia) ;
Ruiz de Garibay, G. (Institut Català d'Oncologia) ;
Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Prados-Carvajal, Rosario (Universidad de Sevilla. Departamento de Genética) ;
Fernández-Rodríguez, Juana (Institut d'Investigació Biomèdica de Bellvitge) ;
García, Nadia (Institut Català d'Oncologia) ;
López, Adrià (Institut Català d'Oncologia) ;
Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Salinas, Mónica (Institut Català d'Oncologia) ;
Teulé, Àlex (Institut Català d'Oncologia) ;
Brunet, Joan (Institut Català d'Oncologia) ;
Radice, Paolo (Istituto Nazionale dei Tumori (Milà)) ;
Peterlongo, Paolo (Istituto Nazionale dei Tumori (Milà)) ;
Schindler, Detlev (Universität Würzburg. Department of Human Genetics) ;
Huertas, Pablo (Universidad de Sevilla. Departamento de Genética) ;
Puente, Xose P. (Universidad de Oviedo. Departamento de Bioquímica y Biología Molecular) ;
Lázaro, Coxi (Institut Català d'Oncologia) ;
Pujana, Miguel Ángel (Institut Català d'Oncologia) ;
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. [...]
2018 - 10.1038/s41467-018-03433-3
Nature communications, Vol. 9 (2018) , art. 967
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8.
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6 p, 1.1 MB |
A role for the spindle assembly checkpoint in the DNA damage response
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Palou, Roger (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Palou Marin, Gloria (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Garcia Quintana, David (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Spontaneous DNA damage poses a continuous threat to genomic integrity. If unchecked, genotoxic insults result in genomic instability, a hallmark of cancer cells. In eukaryotic cells a DNA Damage Response (DDR) detects and responds to genotoxic stress, acting as an anti-cancer barrier in humans. [...]
2016 - 10.1007/s00294-016-0634-y
Current Genetics, Vol. 63, Num. 2 (August 2016) , p. 275-280
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