Depósito Digital de Documentos de la UAB Encontrados 25 registros  1 - 10siguientefinal  ir al registro: La búsqueda tardó 0.01 segundos. 
1.
25 p, 24.0 MB AAV9-mediated telomerase activation does not accelerate tumorigenesis in the context of oncogenic K-Ras-induced lung cancer / Muñoz-Lorente, Miguel A. (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Martínez, Paula (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Tejera, Águeda (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Whittemore, Kurt (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Moisés-Silva, Ana Carolina (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO)) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Blasco, María A. (Telomeres and Telomerase Group, Molecular Oncology Program, Spanish National Cancer Centre (CNIO))
Short and dysfunctional telomeres are sufficient to induce a persistent DNA damage response at chromosome ends, which leads to the induction of senescence and/or apoptosis and to various age-related conditions, including a group of diseases known as "telomere syndromes", which are provoked by extremely short telomeres owing to germline mutations in telomere genes. [...]
2018 - 10.1371/journal.pgen.1007562
PLoS Genetics, Vol. 14 (august 2018)  
2.
35 p, 2.6 MB Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta) / Brasó-Vives, Marina (Laboratoire de Biométrie et Biologie Évolutive UMR 5558, Université de Lyon, Université Lyon 1, CNRS, Villeurbanne, France) ; Povolotskaya, Inna S. (Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Moscow, Russia) ; Hartasánchez, Diego A. (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain) ; Farré, Xavier (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain) ; Fernández Callejo, Marcos (National Centre for Genomic Analysis-Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain) ; Raveendran, Muthuswamy (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Harris, R. Alan (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Rosene, Douglas L. (Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, Massachusetts, United States of America) ; Lorente-Galdos, Belen (Department of Neuroscience, Yale School of Medicine, New Haven, Connecticut, United States of America) ; Navarro, A, 1969- (Institució Catalana de Recerca i Estudis Avançats, Barcelona, Catalonia, Spain) ; Marques-Bonet, Tomas, 1975- (Institut Català de Paleontologia Miquel Crusafont) ; Rogers, Jeffrey (Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America) ; Juan, David (Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Parc de Recerca Biomèdica de Barcelona, Barcelona, Catalonia, Spain)
The rhesus macaque is an abundant species of Old World monkeys and a valuable model organism for biomedical research due to its close phylogenetic relationship to humans. Copy number variation is one of the main sources of genomic diversity within and between species and a widely recognized cause of inter-individual differences in disease risk. [...]
2020 - 10.1371/journal.pgen.1008742
PLoS Genetics, Vol. 16 (may 2020)  
3.
24 p, 25.7 MB p53 and TAp63 participate in the recombination-dependent pachytene arrest in mouse spermatocytes / Marcet-Ortega, Marina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Martínez Marchal, Ana (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Castillo, Helena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Flores, Elsa (The University of Texas M. D. Anderson Cancer Center) ; Jasin, Maria (Memorial Sloan Kettering Cancer Center) ; Keeney, Scott (Memorial Sloan Kettering Cancer Center) ; Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
To protect germ cells from genomic instability, surveillance mechanisms ensure meiosis occurs properly. In mammals, spermatocytes that display recombination defects experience a so-called recombination-dependent arrest at the pachytene stage, which relies on the MRE11 complex-ATM-CHK2 pathway responding to unrepaired DNA double-strand breaks (DSBs). [...]
2017 - 10.1371/journal.pgen.1006845
PLoS Genetics, Vol. 13, issue 6 (2017) , art. e1006845  
4.
28 p, 2.6 MB Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript / Puig Font, Marta (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Castellano Esteve, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Pantano, Lorena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Giner Delgado, Carla (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Izquierdo, David (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Gayà Vidal, Magdalena (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lucas Lledó, Jose Ignacio (Universitat de València. Institut Cavanilles de Biologia Evolutiva i Biodiversitat) ; Esko, Tõnu (Estonian Genome Center) ; Terao, Chikashi (Kyoto University Graduate School of Medicine) ; Matsuda, Fumihiko (Center for Genomic Medicine. Kyoto University Graduate School of Medicine) ; Cáceres Aguilar, Mario (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. [...]
2015 - 10.1371/journal.pgen.1005495
PLoS Genetics, Vol. 11, issue 10 (2015) , art. e1005495  
5.
27 p, 21.8 MB The ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes / Pacheco, Sarai (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Marcet-Ortega, Marina (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Lange, Julian (Memorial Sloan Kettering Cancer Center) ; Jasin, Maria (Memorial Sloan Kettering Cancer Center) ; Keeney, Scott (Memorial Sloan Kettering Cancer Center) ; Roig, I. (Ignasi) (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Most mutations that compromise meiotic recombination or synapsis in mouse spermatocytes result in arrest and apoptosis at the pachytene stage of the first meiotic prophase. Two main mechanisms are thought to trigger arrest: one independent of the double-strand breaks (DSBs) that initiate meiotic recombination, and another activated by persistent recombination intermediates. [...]
2015 - 10.1371/journal.pgen.1005017
PLoS Genetics, Vol. 11, issue 3 (2015) , art. e1005017  
6.
31 p, 4.4 MB The PSMA8 subunit of the spermatoproteasome is essential for proper meiotic exit and mouse fertility / Gomez Hernández, Laura (Centro de Investigación del Cáncer) ; Felipe Medina, Natalia (Centro de Investigación del Cáncer) ; Bejarano Condezo, Yazmine (Centro de Investigación del Cáncer) ; Garcia Valiente, Rodrigo (Centro de Investigación del Cáncer) ; Ramos, Isabel (Centro de Investigación del Cáncer) ; Suja, José Ángel (Universidad Autónoma de Madrid. Unidad de Biologia Celular) ; Barbero, José Luis (Centro de Investigaciones Biológicas (Madrid)) ; Roig, I. (Ignasi) (Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Sanchez Martin, Manuel. (Universidad de Salamanca. Departamento de Medicina) ; De Rooij, Dirk G. (Utrecht University. Departent of Biology) ; Llano, Elena (Departamento de Fisiologia y Farmacologia. Universidad de Salamanca) ; Martín Pendas, Alberto (Centro de Investigación del Cáncer)
The ubiquitin proteasome system regulates meiotic recombination in yeast through its association with the synaptonemal complex, a 'zipper'-like structure that holds homologous chromosome pairs in synapsis during meiotic prophase I. [...]
2019 - 10.1371/journal.pgen.1008316
PLoS Genetics, Vol. 15, issue 8 (August 2019) , e1008316  
7.
26 p, 3.5 MB A functional regulatory variant of MYH3 influences muscle fiber-type composition and intramuscular fat content in pigs / Cho, In-Cheol (Rural Development Administration. National Institute of Animal Science) ; Park, Hee-Bok (Kongju National University. College of Industrial Sciences. Department of Animal Resources Science) ; Ahn, Jin Seop (Korea Research Institute of Bioscience and Biotechnology. Biotherapeutics Translational Research Center) ; Han, Sang-Hyun (Jeju National University. Educational Science Research Institute) ; Lee, JaeBong (Chonbuk National University. Korea Zoonosis Research Institute) ; Lim, Hyun-Tae (Gyeongsang National University. College of Agriculture and Life Sciences) ; Yoo, Chae-Kyoung (Gyeongsang National University. Institute of Agriculture and Life Science.) ; Jung, Eun-Ji (Bio-Medical Science Co., Ltd) ; Kim, Dong-Hwan (Korea Research Institute of Bioscience and Biotechnology. Biotherapeutics Translational Research Center) ; Sun, Wu-Sheng (Korea Research Institute of Bioscience and Biotechnology. Biotherapeutics Translational Research Center) ; Ramayo-Caldas, Yuliaxis (Institut de Recerca i Tecnologia Agroalimentàries) ; Kim, Sang-Geum (Rural Development Administration. National Institute of Animal Science) ; Kang, Yong-Jun (Rural Development Administration. National Institute of Animal Science) ; Kim, YooKyung (Jeju National University. Educational Science Research Institute) ; Shin, Hyun-Sook (Rural Development Administration. National Institute of Animal Science) ; Seong, Pil-Nam (Rural Development Administration. National Institute of Animal Science) ; Hwang, In-Sul (Rural Development Administration. National Institute of Animal Science) ; Park, Beom-Young (Rural Development Administration. National Institute of Animal Science) ; Hwang, Seongsoo (Rural Development Administration. National Institute of Animal Science) ; Lee, Sung-Soo (Rural Development Administration. National Institute of Animal Science) ; Ryu, Youn-Chul (Jeju National University. Division of Biotechnology. SARI) ; Lee, Jun-Heon (Chungnam National University. Division of Animal and Dairy Science) ; Ko, MoonSuck (Rural Development Administration. National Institute of Animal Science) ; Lee, Kichoon (Ohio State University. College of Food Agricultural and Environmental Sciences) ; Andersson, Göran (Swedish University of Agricultural Sciences. Department of Animal Breeding and Genetics) ; Pérez-Enciso, Miguel (Centre de Recerca en Agrigenòmica) ; Lee, JeongWoong (Korea Research Institute of Bioscience and Biotechnology. Biotherapeutics Translational Research Center)
Muscle development and lipid accumulation in muscle critically affect meat quality of livestock. However, the genetic factors underlying myofiber-type specification and intramuscular fat (IMF) accumulation remain to be elucidated. [...]
2019 - 10.1371/journal.pgen.1008279
PLoS Genetics, Vol. 15, Núm. 10 (October 2019) , art. e1008279  
8.
23 p, 2.2 MB Discovery of a new family of relaxases in Firmicutes bacteria / Gayetri Ramachandran, Andrés (Centro de Biología Molecular Severo Ochoa) ; Miguel Arribas, Andrés (Centro de Biología Molecular Severo Ochoa) ; Abia, David (Centro de Biología Molecular Severo Ochoa) ; Singh, Praveen K. (Centro de Biología Molecular Severo Ochoa) ; Crespo, Isidro (ALBA Laboratori de Llum de Sincrotró) ; Gago-Córdoba, César (Centro de Biología Molecular Severo Ochoa) ; Hao, Jian An (Centro de Biología Molecular Severo Ochoa) ; Luque-Ortega, Juan Roman (Centro de Investigaciones Biológicas (Madrid)) ; Alfonso, Carlos (Centro de Investigaciones Biológicas (Madrid)) ; Wu, Ling J. (Newcastle University. Institute for Cell and Molecular Biosciences. Centre for Bacterial Cell Biology) ; Boer, Dirk Roeland (ALBA Laboratori de Llum de Sincrotró) ; Meijer, Wilfried J. J. (Centro de Biología Molecular Severo Ochoa)
Antibiotic resistance is a serious global problem. Antibiotic resistance genes (ARG), which are widespread in environmental bacteria, can be transferred to pathogenic bacteria via horizontal gene transfer (HGT). [...]
2017 - 10.1371/journal.pgen.1006586
PLoS Genetics, Vol. 13, issue 2 (Feb. 2017) , e1006586  
9.
23 p, 4.0 MB MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria / Dalla Rosa, Ilaria (MRC Mill Hill Laboratory, London, United Kingdom) ; Cámara, Yolanda (Vall d'Hebron Institut de Recerca. Laboratori de Trastorns Mitocondrials) ; Durigon, Romina (MRC Mill Hill Laboratory) ; Moss, Chloe F. (MRC Mill Hill Laboratory) ; Vidoni, Sara (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Akman, Gokhan (MRC Mill Hill Laboratory) ; Hunt, Lilian (MRC Mill Hill Laboratory) ; Johnson, Mark A. (MRC Mitochondrial Biology Unit, Wellcome Trust-MRC Building) ; Grocott, Sarah (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital, Oxford, United Kingdom) ; Wang, Liya (Department of Anatomy, Physiology and Biochemistry, The Swedish University of Agricultural Sciences, Biomedical Center) ; Thorburn, David R. (Murdoch Childrens Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital) ; Hirano, Michio (Department of Neurology, Columbia University Medical Center, New York, New York, United States of America) ; Poulton, Joanna (Mitochondrial Genetics Group, Nuffield Department of Obstetrics and Gynaecology, Women's Centre, The John Radcliffe Hospital) ; Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, The Medical School, Newcastle upon Tyne) ; Elgar, Greg (MRC Mill Hill Laboratory) ; Martí Seves, Ramon (Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III) ; Voshol, Peter (Institute of Metabolic Science, University of Cambridge) ; Holt, Ian J. (MRC Mill Hill Laboratory, London) ; Spinazzola, Antonella (MRC Mill Hill Laboratory) ; Universitat Autònoma de Barcelona
MPV17 is a mitochondrial inner membrane protein whose dysfunction causes mitochondrial DNA abnormalities and disease by an unknown mechanism. Perturbations of deoxynucleoside triphosphate (dNTP) pools are a recognized cause of mitochondrial genomic instability; therefore, we determined DNA copy number and dNTP levels in mitochondria of two models of MPV17 deficiency. [...]
2016 - 10.1371/journal.pgen.1005779
PLoS Genetics, Vol. 12 (january 2016)  
10.
12 p, 371.6 KB DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers / Osorio, Ana (Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain) ; Milne, Roger L. (Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia) ; Kuchenbaecker, Karoline (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Vaclová, Tereza (Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Pita, Guillermo (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Alonso, Rosario (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; de la Hoya, Miguel (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain) ; Duran, Mercedes (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ramón y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Konstantopoulou, Irene (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Martínez-Bouzas, Cristina (Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain) ; Andrés Conejero, Raquel (Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain) ; Soucy, Penny (Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ; McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Barrowdale, Daniel (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Lee, Andrew (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; SWE-BRCA, None (Department of Oncology, Lund University, Lund, Sweden) ; Arver, Brita (Department of Oncology, Karolinska University Hospital, Stockholm, Sweden) ; Rantala, Johanna (Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden) ; Loman, Niklas (Department of Oncology, Lund University Hospital, Lund, Sweden) ; Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital, Lund, Sweden) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America) ; Beattie, Mary S. (Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America) ; Domchek, Susan M. (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Nathanson, Katherine (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Rebbeck, Timothy R. (Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Arun, Banu K. (University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America) ; Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America) ; Whittemore, Alice S. (Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America) ; Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America) ; Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ; Hopper, John (Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia) ; Terry, Mary B. (Department of Epidemiology, Columbia University, New York, New York, United States of America) ; Buys, Saundra S. (Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania) ; Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Hansen, Thomas v. O. (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Jønson, Lars (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Ejlertsen, Bent (Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Gerdes, Anne-Marie (Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Infante, Mar (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Herráez, Belén (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Moreno, Leticia Thais (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Weeman, Kisa (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Zaffaroni, Daniela (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Scuvera, Giulietta (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy) ; Mariette, Frederique (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Volorio, Sara (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Viel, Alessandra (Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy) ; Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy) ; Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ; Ottini, Laura (Department of Molecular Medicine, "Sapienza" University, Rome, Italy) ; Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy) ; Radice, Paolo (Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Garber, Judy (Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America) ; Ellis, Steve (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Platte, Radka (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Fineberg, Elena (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Lalloo, Fiona (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Izatt, Louise (South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom) ; Eeles, Ros (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom) ; Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, United Kingdom) ; Davidson, Rosemarie (Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom) ; Cole, Trevor (West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom) ; Eccles, Diana (Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom) ; Cook, Jackie (Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom) ; Hodgson, Shirley (Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom) ; Brewer, Carole (Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom) ; Tischkowitz, Marc (Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom) ; Douglas, Fiona (Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom) ; Porteous, Mary (South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom) ; Side, Lucy (North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom) ; Walker, Lisa (Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom) ; Morrison, Patrick (Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom) ; Donaldson, Alan (South West Regional Genetics Service, Bristol, United Kingdom) ; Kennedy, John (Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire) ; Foo, Claire (Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America) ; Schmutzler, Rita Katharina (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Wappenschmidt, Barbara (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Rhiem, Kerstin (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Ditsch, Nina (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Plendl, Hans Jörg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Niederacher, Dieter (Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany) ; Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ; Wang-Gohrke, Shan (Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany) ; Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany) ; Preisler-Adams, Sabine (Institute of Human Genetics, University of Münster, Münster, Germany) ; Kast, Karin (Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany) ; Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Sinilnikova, Olga M. (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Mazoyer, Sylvie (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Damiola, Francesca (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America) ; Tucker, Kathy (Prince of Wales Hospital. Sydney, Australia) ; Backes, Floor (Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America) ; Rodríguez, Gustavo (Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America) ; Brewster, Wendy (Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America) ; Wakeley, Katie (For Tufts Medical Center, Boston, Massachusetts, United States of America) ; Rutherford, Thomas (Yale University School of Medicine, New Haven, Connecticut, United States of America) ; Caldés, Trinidad (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain) ; Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Aittomäki, Kristiina (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Rookus, Matti A. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; van Os, Theo A. M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands) ; van der Kolk, Lizet (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; de Lange, J. L. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands) ; van der Hout, A. H. (University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands) ; van Asperen, Christi J. (Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands) ; Gómez Garcia, Encarna B. (Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands) ; Hoogerbrugge, Nicoline (Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands) ; Collée, J. Margriet (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ; Devilee, Peter (Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands) ; HEBON, None (The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Lázaro, Conxi (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Teulé, Alex (Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Menéndez, Mireia (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Durda, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Jaworska-Bieniek, Katarzyna (Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland) ; Johannsson, Oskar Th. (Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland) ; Maugard, Christine (Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France) ; Montagna, Marco (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy) ; Tognazzo, Silvia (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy) ; Teixeira, Manuel R. (Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal) ; Healey, Sue (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Investigators, kConFab (Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia) ; Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Guidugli, Lucia (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Lindor, Noralane (Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America) ; Slager, Susan (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Szabo, Csilla I. (Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America) ; Vijai, Joseph (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Robson, Mark (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Kauff, Noah (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Zhang, Liying (Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Rau-Murthy, Rohini (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Fink-Retter, Anneliese (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Singer, Christian F. (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Rappaport, Christine (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Geschwantler Kaulich, Daphne (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Pfeiler, Georg (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Tea, Muy-Kheng (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Berger, Andreas (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America) ; Lejbkowicz, Flavio (Clalit National Israeli Cancer Control Center, Haifa, Israel) ; Andrulis, Irene (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ; Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada) ; Glendon, Gord (Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada) ; Toland, Amanda Ewart (Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ; Pedersen, Inge Sokilde (Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark) ; Sunde, Lone (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Thomassen, Mads (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Kruse, Torben A. (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Jensen, Uffe Birk (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Friedman, Eitan (Sheba Medical Center, Tel Aviv, Israel) ; Laitman, Yael (Sheba Medical Center, Tel Aviv, Israel) ; Shimon, Shani Paluch (Sheba Medical Center, Tel Aviv, Israel) ; Simard, Jacques (Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ; Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Offit, Kenneth (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Benitez, Javier (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Universitat Autònoma de Barcelona
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. [...]
2014 - 10.1371/journal.pgen.1004256
PLoS Genetics, Vol. 10 (april 2014)  

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