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6 p, 9.9 MB |
Comprehensive characterization of a novel, oncogenic and targetable SEPTIN6::ABL2 fusion in T-ALL
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Lahera, Antonio (Area of Genetics and Genomics. IIS Fundación Jiménez Díaz) ;
Vela Martín, Laura (Area of Genetics and Genomics. IIS Fundación Jiménez Díaz) ;
López Nieva, Pilar (Institute for Molecular Biology-IUBM. Universidad Autónoma de Madrid) ;
Salgado Sánchez, Rocío Nieves (Cytogenetics Service. Hospital Universitario Fundación Jiménez Díaz) ;
Rodriguez-Perales, Sandra (Molecular Cytogenetics & Genome Editing Unit. Human Cancer Genetics Program. Centro Nacional de Investigaciones Oncologicas) ;
Torres-Ruiz, Rocío (Advanced Therapy Unit. Instituto de Investigación Sanitaria Fundación Jiménez Díaz) ;
López Lorenzo, José L. (Hospital Universitario Fundación Jiménez Díaz) ;
Cornago, Javier (Division of Hematology and Hemotherapy. IIS Fundación Jiménez Díaz) ;
Llamas, Pilar (Division of Hematology and Hemotherapy. IIS Fundación Jiménez Díaz) ;
Fernández Navarro, Pablo (Networking Biomedical Research Centre of Epidemiology and Public Health) ;
Sánchez Domínguez, Rebeca (Networking Biomedical Research Centre of Rare Diseases) ;
Segovia, José C. (Networking Biomedical Research Centre of Rare Diseases) ;
Sastre, Isabel (Department of Genome Dynamics and Function. Centro de Biología Molecular Severo Ochoa. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid) ;
Cobos Fernández, María Á. (Medical Oncology Department. Hospital Universitario 12 de Octubre) ;
Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Santos Hernández, Javier (Institute for Molecular Biology-IUBM. Universidad Autónoma de Madrid) ;
Fernández Piqueras, José (Institute for Molecular Biology-IUBM. Universidad Autónoma de Madrid) ;
Villa Morales, María (Institute for Molecular Biology-IUBM. Universidad Autónoma de Madrid)
2023 -  10.1111/bjh.18901
British Journal of Haematology, Vol. 202 Núm. 3 (august 2023) , p. 693-698
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13 p, 2.5 MB |
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility
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Cerván-Martín, Miriam (Instituto de Investigación Sanitaria de Granada) ;
Tüttelmann, Frank (Institute of Reproductive Genetics. University of Münster) ;
Lopes, Alexandra M. (Center for Predictive and Preventive Genetics. Institute for Cell and Molecular Biology. University of Porto) ;
Bossini-Castillo, Lara (Instituto de Investigación Sanitaria de Granada) ;
Rivera-Egea, Rocío (Instituto de Investigación Sanitaria La Fe (València)) ;
Garrido, Nicolás (Instituto de Investigación Sanitaria La Fe (València)) ;
Lujan, Saturnino (Instituto de Investigación Sanitaria La Fe (València)) ;
Romeu, Gema (Instituto de Investigación Sanitaria La Fe (València)) ;
Santos-Ribeiro, Samuel (Department of Obstetrics and Gynecology. Faculty of Medicine. University of Lisbon) ;
Castilla, José Antonio (CEIFER Biobanco - GAMETIA) ;
Gonzalvo, M. Carmen (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Clavero, Ana (Unidad de Reproducción. UGC Obstetricia y Ginecología. HU Virgen de las Nieves) ;
Maldonado, Vicente (UGC de Obstetricia y Ginecología. Complejo Hospitalario de Jaén) ;
Vicente, F.Javier (UGC de Urología. HU Virgen de las Nieves) ;
González-Muñoz, Sara (Instituto de Investigación Sanitaria de Granada) ;
Guzmán-Jiménez, Andrea (Instituto de Investigación Sanitaria de Granada) ;
Burgos, Miguel (Universidad de Granada. Departamento de Genética) ;
Jiménez, Rafael (Universidad de Granada. Departamento de Genética) ;
Pacheco, Alberto (Universidad Alfonso X El Sabio. Facultad de Ciencias de la Salud) ;
González, Cristina (Instituto de Investigación Sanitaria La Fe) ;
Gómez, Susana (Instituto de Investigación Sanitaria La Fe) ;
Amorós, David (Instituto de Investigación Sanitaria La Fe) ;
Aguilar, Jesús (Instituto de Investigación Sanitaria La Fe) ;
Quintana, Fernando (Instituto de Investigación Sanitaria La Fe) ;
Calhaz-Jorge, Carlos (Centro Hospitalar Universitário de Lisboa Norte) ;
Aguiar, Ana (Centro Hospitalar Universitário de Lisboa Norte) ;
Nunes, Joaquim (Centro Hospitalar Universitário de Lisboa Norte) ;
Sousa, Sandra (Centro Hospitalar Universitário de Lisboa Norte) ;
Pereira, Isabel (Centro Hospitalar Universitário de Lisboa Norte) ;
Pinto, Maria Graça (Centro Hospitalar Universitário de Lisboa Central) ;
Correia, Sónia (Centro Hospitalar Universitário de Lisboa Central) ;
Sánchez-Curbelo, Josvany (Institut d'Investigació Biomèdica Sant Pau) ;
López-Rodrigo, Olga (Fundació Puigvert) ;
Martín, Javier (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Pereira-Caetano, Iris (Departamento de Genética Humana. Instituto Nacional de Saúde Dr. Ricardo Jorge) ;
Marques, Patricia I. (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Carvalho, Filipa (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ;
Barros, Alberto (Serviço de Genética. Departamento de Patologia. Faculdade de Medicina. Universidade do Porto) ;
Gromoll, Jörg (Institute of Reproductive and Regenerative Biology. Centre of Reproductive Medicine and Andrology. University of Münster. University Clinics) ;
Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ;
Seixas, Susana (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) ;
Gonçalves, João (ToxOmics - Centro de Toxicogenómica e Saúde Humana. Nova Medical School) ;
Larriba, Sara (Institut d'Investigació Biomèdica de Bellvitge) ;
Kliesch, Sabine (University Hospital Münster. Department of Clinical and Surgical Andrology. Centre of Reproductive Medicine and Andrology) ;
Palomino-Morales, Rogelio J. (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ;
Carmona, F. David (Instituto de Investigación Sanitaria de Granada) ;
Universitat Autònoma de Barcelona
We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. [...]
2022 - 10.1038/s42003-022-04192-0
Communications Biology, Vol. 5 Núm. 1 (december 2022) , p. 1220
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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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12 p, 1.7 MB |
Mechanistic basis of Nek7 activation through Nek9 binding and induced dimerization
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Haq, Tamanna (University of Leicester. Department of Biochemistry) ;
Richards, Mark W. (University of Leicester. Department of Biochemistry) ;
Burgess, Selena G. (University of Leicester. Department of Biochemistry) ;
Gallego Alonso, Pablo (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Yeoh, Sharon (University of Leicester. Department of Biochemistry) ;
O'Regan, Laura (University of Leicester. Department of Biochemistry) ;
Reverter i Cendrós, David (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Roig, Joan (Institut de Recerca Biomèdica de Lleida) ;
Fry, Andrew M. (University of Leicester. Department of Biochemistry) ;
Bayliss, Richard (Cancer Research UK Leicester Centre)
Mitotic spindle assembly requires the regulated activities of protein kinases such as Nek7 and Nek9. Nek7 is autoinhibited by the protrusion of Tyr97 into the active site and activated by the Nek9 non-catalytic C-terminal domain (CTD). [...]
2015 - 10.1038/ncomms9771
Nature communications, Vol. 6 (2015) , art. 8771
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10 p, 290.8 KB |
Alectinib versus crizotinib in untreated ALK-positive non-small-cell lung cancer
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Peters, S. (Lausanne University Hospital) ;
Camidge, David Ross (University of Colorado) ;
Shaw, A. T. (Massachusetts General Hospital (Boston)) ;
Gadgeel, S. (University of Michigan) ;
Ahn, Jin Seop (Samsung Medical Center. Sungkyunkwan University School of Medicine) ;
Kim, Dong-Wan (Seoul National University Hospital) ;
Ou, S. H. I. (School of Medicine) ;
Pérol, M. (Department of Medical Oncology. Léon Bérard Cancer Center) ;
Dziadziuszko, R. (Department of Oncology and Radiotherapy. Medical University of Gdansk) ;
Rosell, R. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Zeaiter, A. (F. Hoffmann-La Roche) ;
Mitry, E. (F. Hoffmann-La Roche) ;
Golding, S. (F. Hoffmann-La Roche) ;
Balas, B. (F. Hoffmann-La Roche) ;
Noe, J. (F. Hoffmann-La Roche) ;
Morcos, P. N. (Roche Innovation Center) ;
Mok, T. (State Key Laboratory of South China. Chinese University of Hong Kong)
BACKGROUND: Alectinib, a highly selective inhibitor of anaplastic lymphoma kinase (ALK), has shown systemic and central nervous system (CNS) efficacy in the treatment of ALK-positive non-small-cell lung cancer (NSCLC). [...]
2017 - 10.1056/NEJMoa1704795
The New England journal of medicine, Vol. 377 Núm. 9 (31 2017) , p. 829-838
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19 p, 9.0 MB |
Osmostress-Induced Apoptosis in Xenopus Oocytes : Role of Stress Protein Kinases, Calpains and Smac/DIABLO
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Ben Messaoud, Nabil (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Yue, Jicheng (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Valent, Daniel (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Katzarova, Ilina (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
López Blanco, José Manuel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Hyperosmotic shock induces cytochrome c release and capase-3 activation in Xenopus oocytes, but the regulators and signaling pathways involved are not well characterized. Here we show that hyperosmotic shock induces rapid calpain activation and high levels of Smac/DIABLO release from the mitochondria before significant amounts of cytochrome c are released to promote caspase-3 activation. [...]
2015 - 10.1371/journal.pone.0124482
PloS one, Vol. 10, Num. 4 (2015) , p. 1-19
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15 p, 2.0 MB |
Basic Properties of the p38 Signaling Pathway in Response to Hyperosmotic Shock
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Ben Messaoud, Nabil (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Katzarova, Ilina (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
López Blanco, José Manuel (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Some properties of signaling systems, like ultrasensitivity, hysteresis (a form of biochemical memory), and all-or-none responses at a single cell level, are important to understand the regulation of irreversible processes. [...]
2015 - 10.1371/journal.pone.0135249
PloS one, Vol. 10, Num. 9 (September 2015) , p. 1-15
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