Resultados globales: 4 registros encontrados en 0.02 segundos.
Artículos, Encontrados 4 registros
Artículos Encontrados 4 registros  
1.
13 p, 768.1 KB Bcr/Abl Interferes With The Fanconi Anemia/Brca Pathway : Implications In The Chromosomal Instability Of Chronic Myeloid Leukemia Cells / Valeri, Antonio (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Alonso-Ferrero, Maria Eugenia (Centro de Investigación Biomédica en Red de Enfermedades Raras (Madrid)) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras (Madrid)) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Pérez, Laura (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Jacome, Ariana (Centro de Investigación Biomédica en Red de Enfermedades Raras (Madrid)) ; Agirre, Xabier (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Calasanz, Maria José (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Hanenberg, Helmut (Children's Hospital (Duesseldorf). Department of Pediatric Oncology, Hematology and Immunology) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Prosper, Felipe (Universidad de Navarra. Fundación para la Investigación Médica Aplicada) ; Albella, Beatriz (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Bueren, Juan A. (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT))
Chronic myeloid leukemia (CML) is a malignant clonal disorder of the hematopoietic system caused by the expression of the BCR/ABL fusion oncogene. Although it is well known that CML cells are genetically unstable, the mechanisms accounting for this genomic instability are still poorly understood. [...]
2010 - 10.1371/journal.pone.0015525
PLoS one, Vol. 5, Num. 12 (2010) , p. 15525  
2.
13 p, 2.1 MB Epigenetic Alterations in Fanconi Anaemia : Role in Pathophysiology and Therapeutic Potential / Belo, Hélio (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Silva, Gabriela (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Cardoso, Bruno A. (Universidade Nova de Lisboa. Faculdade de Ciências Médicas) ; Porto, Beatriz (Instituto de Ciências Biomédicas de Abel Salazar (Porto, Portugal)) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Barbot, José (Centro Hospitalar do Porto (Porto, Portugal)) ; Coutinho, Jorge (Centro Hospitalar do Porto (Porto, Portugal)) ; Casado, José A. (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Benedito, Manuela (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ; Saturnino, Hema (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ; Costa, Emília (Centro Hospitalar do Porto (Porto, Portugal)) ; Bueren, Juan A. (Centro Hospitalar do Porto (Porto, Portugal)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Almeida, Antonio (Universidade Nova de Lisboa. Faculdade de Ciências Médicas)
Fanconi anaemia (FA) is an inherited disorder characterized by chromosomal instability. The phenotype is variable, which raises the possibility that it may be affected by other factors, such as epigenetic modifications. [...]
2015 - 10.1371/journal.pone.0139740
PLoS one, Vol. 10, Num. 10 (October 2015) , p. 1-13  
3.
29 p, 2.6 MB Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia / Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Schuster, Beatrice (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Stoepker, Chantal (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Derkunt, Burak (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Su, Yan (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Raams, Anja (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Baños, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Knies, Kerstin (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))) ; Zúñiga, Sheila (Sistemas Genómicos. Departamento de Bioinformática) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bueren, Juan A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Jaspers, Nicolaas G.J. (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Schärer, Orlando D. (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia)
BFanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). [...]
2013 - 10.1016/j.ajhg.2013.04.002
American journal of human genetics, Vol. 92 (May 2013) , p. 800-806  
4.
59 p, 1.7 MB Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations / Kalba, Reinhard (University of Wurzburg. Department of Human Genetics) ; Neveling, Kornelia (University of Wurzburg. Department of Human Genetics) ; Hoehn, Holger (University of Wurzburg. Department of Human Genetics) ; Schneider, Hildegard (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Linka, Yvonne (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Batishb, Sat Dev (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hunt, Curtis (University of New Mexico. Division of Epidemiology) ; Berwick, Marianne (University of New Mexico. Division of Epidemiology) ; Callén, Elsa (Universitat Autónoma de Barcelona. Department of Genetics and Microbiology) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (CIEMAT. Hematopoietic Gene Therapy Program) ; Bueren, Juan (CIEMAT. Hematopoietic Gene Therapy Program) ; Dasí, Ángeles (Hospital la Fe (Valencia). Unit of Pediatric Hematology) ; Soulier, Jean (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Gluckman, Eliane (Hopital Saint-Louis (Paris). Institut Universitaire d'Hematologie) ; Zwaan, C. Michel (Erasmus MC Sophia Children's Hospital (Rotterdam). Department of Pediatric Hematology/Oncology) ; Van Spaendonk, Rosalina (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Pals, Gerard (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Joenje, Hans (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Grompe, Markus (Oregon Health and Science University, Department of Medical and Molecular Genetics) ; Auerbach, Arleen D. (The Rockefeller University. Laboratory of Human Genetics and Hematology) ; Hanenberg, Helmut (University of Dusseldorf. Department of Pediatric Oncology, Hematology and Immunology) ; Schindler, Detlev (University of Wurzburg. Department of Human Genetics)
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a central role in DNA double-strand type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 FA patients from 23 families and 4 additional unrelated patients to complementation group FA-D2. [...]
2007
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

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