Resultats globals: 10 registres trobats en 0.02 segons.
Articles, 10 registres trobats
Articles 10 registres trobats  
1.
8 p, 885.9 KB Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias : Experience of the Spanish Network on Bone Marrow Failure Syndromes / Gálvez, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vallespín, Elena (Instituto de Investigación Hospital Universitario La Paz) ; Arias-Salgado, Elena G. (Instituto de Investigación Hospital Universitario La Paz) ; Sánchez-Valdepeñas, Carmen (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Giménez, Yari (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Madrid)) ; Navarro, Susana (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Madrid)) ; Río, Paula (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Madrid)) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol, Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Peiró, Montserrat (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Nevado, Julián (ITHACA, European Reference Network) ; Zubicaray, Josune (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Sebastián, Elena (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Catalá, Albert (Sociedad Española de Hematología y Oncología-SEHOP. Grupo insuficiencias medulares) ; Beléndez, Cristina (Hospital Gregorio Marañón (Madrid)) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Galera, Ana (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Badell Serra, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Madero, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Perona, Rosario (Instituto de Investigación Hospital Universitario La Paz) ; Sastre, Leandro (Instituto de Investigación Hospital Universitario La Paz) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Madrid)) ; Lapunzina, Pablo (ITHACA, European Reference Network) ; Sevilla, Julián (Sociedad Española de Hematología y Oncología-SEHOP. Grupo insuficiencias medulares)
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. [...]
2021 - 10.1097/HS9.0000000000000539
HemaSphere, Vol. 5 (march 2021)  
2.
12 p, 548.1 KB Mosaicism in Fanconi anemia : concise review and evaluation of published cases with focus on clinical course of blood count normalization / Nicoletti, Eileen (Rocket Pharmaceuticals, Inc., New York) ; Rao, Gayatri (Rocket Pharmaceuticals, Inc., New York, NY USA) ; Bueren, Juan A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Río, Paula (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Navarro Ordóñez, Susana (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Choi, Grace (Rocket Pharmaceuticals, Inc., New York) ; Schwartz, Jonathan D. (Rocket Pharmaceuticals, Inc., New York) ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
Fanconi anemia (FA) is a DNA repair disorder resulting from mutations in genes encoding for FA DNA repair complex components and is characterized by variable congenital abnormalities, bone marrow failure (BMF), and high incidences of malignancies. [...]
2020 - 10.1007/s00277-020-03954-2
Annals of Hematology, Vol. 99 (february 2020) , p. 913-924  
3.
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) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; 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) ; 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  
4.
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 Autònoma 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, António (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  
5.
15 p, 1.3 MB Targeted gene therapy and cell reprogramming in Fanconi anemia / Río, Paula (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Baños, Rocío (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Lombardo, Angelo (Ospedale San Raffaele (Segrate, Italy). Istituto scientifico) ; Quintana-Bustamante, Óscar (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Alvarez, Lara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Garate, Zita (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Genovese, Pietro (Ospedale San Raffaele (Segrate, Italy). Istituto scientifico) ; Almarza, Elena (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Valeri, Antonio (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Díez, Begoña (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Navarro Ordóñez, Susana (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Torres, Yaima (NIM Genetics) ; Trujillo, Juan P. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Murillas, Rodolfo (Division of Epithelial Biomedicine, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT)) ; Segovia, José C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Samper, Enrique (NIM Genetics) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Gregory, Philip D. (Sangamo BioSciences) ; Holmes, Michael C. (Sangamo BioSciences) ; Naldini, Luigi (Ospedale San Raffaele (Segrate, Italy). Istituto scientifico) ; Bueren, Juan A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Gene targeting is progressively becoming a realistic therapeutic alternative in clinics. It is unknown, however, whether this technology will be suitable for the treatment of DNA repair deficiency syndromes such as Fanconi anemia (FA), with defects in homology-directed DNA repair. [...]
2014 - 10.15252/emmm.201303374
EMBO molecular medicine, Vol. 6, Issue 6 (June 2014) , p. 835-848  
6.
35 p, 2.1 MB Modeling Fanconi anemia pathogenesis and therapeutics using integration-free patient iPSCs / Liu, Guang-Hui (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Suzuki (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Li, Mo (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Qu, Jing (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Montserrat, Núria (Centro de Medicina Regenerativa de Barcelona) ; Tarantino, Carolina (Centro de Medicina Regenerativa de Barcelona) ; Gu, Ying (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Yi, Fei (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Xu, Xiuling (Zhongguo ke xue yuan. National Laboratory of Biomacromolecules) ; Zhang, Weiqi (Zhongguo ke xue yuan. National Laboratory of Biomacromolecules) ; Ruiz, Sergio (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Plongthongkum, Nongluk (University of California. Department of Bioengineering) ; Zhang, Kun (University of California. Department of Bioengineering) ; Masuda, Shigeo (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Nivet, Emmanuel (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Tsunokawa, Yuji (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Soligalla, Rupa Devi (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Goebl, April (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Aizawa, Emi (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Kim, Na Young (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Kim, Jessica (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Dubova, Ilir (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Li, Ying (Zhongguo ke xue yuan. National Laboratory of Biomacromolecules) ; Ren, Ruotong (Zhongguo ke xue yuan. National Laboratory of Biomacromolecules) ; Benner, Chris (Integrative Genomics and Bioinformatics Core. Salk Institute for Biological Studies) ; Sol, Antonio del (Luxembourg Centre for Systems Biomedicine) ; Bueren, Juan (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Trujillo Quintero, Juan Pablo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cappelli, Enrico (Istituto "Giannina Gaslini" di Genova) ; Dufour, Carlo (Istituto "Giannina Gaslini" di Genova) ; Rodriguez Esteban, Concepción (Laboratory of Gene Expression, Salk Institute for Biological Studies) ; Izpisua Belmonte, Juan Carlos (Laboratory of Gene Expression, Salk Institute for Biological Studies)
Fanconi anaemia (FA) is a recessive disorder characterized by genomic instability, congenital abnormalities, cancer predisposition and bone marrow (BM) failure. However, the pathogenesis of FA is not fully understood partly due to the limitations of current disease models. [...]
Altres ajuts: Strategic Priority Research Program of the Chinese Academy of Sciences (XDA01020312), National Basic Research Program of China (973 Program,2014CB964600;2014CB910500), NSFC (81271266, 31222039, 81330008, 31201111, 81371342, 81300261, 81300677), Key Research Program of the Chinese Academy of Sciences (KJZD-EW-TZ-L05), Beijing Natural Science Foundation (7141005; 5142016), the Thousand Young Talents program of China, National Laboratory of Biomacromolecules (012kf02, 2013kf05;2013kf11;2014kf02), and State Key Laboratory of Drug Research (SIMM1302KF-17). [...]

2014 - 10.1038/ncomms5330
Nature communications, Vol. 5, article 4330 (July 2014)  
7.
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 Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (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) ; Pujol i Calvet, M. Roser (Universitat Autònoma 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 Autònoma 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  
8.
14 p, 2.9 MB Exploring the link between MORF4L1 and risk of breast cancer / Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge) ; Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge) ; Tominaga, Emiko (The University of Texas Health Science Center at San Antonio) ; Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge) ; Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge) ; Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ; Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ; Brunet, Joan (Hospital Universitari de Girona Doctor Josep Trueta) ; Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge) ; Fernandez-Rodriguez, Juana (Hospital Universitari de Girona Doctor Josep Trueta) ; Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit)) ; Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit)) ; Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit)) ; Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castellà, María (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care) ; Peock, Susan (University of Cambridge. Department of Public Health and Primary Care) ; Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care) ; Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care) ; Frost, Debra (University of Cambridge. Department of Public Health and Primary Care) ; Platte, Radka (University of Cambridge. Department of Oncology) ; Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit)) ; Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit)) ; Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit)) ; Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ; Ong, Kai-Ren (Birmingham Women's Hospital Healthcare NHS Trust (Birmingham, Regne Unit)) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) ; Hodgson, Shirley (University of London. St George's Hospital. Clinical Genetics Department) ; Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ; Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit)) ; Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit)) ; Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia)) ; Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia)) ; Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia)) ; Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia)) ; Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia)) ; Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia)) ; Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia)) ; Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine) ; Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia)) ; Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia)) ; Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia)) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Rookus, Matti A. (The Netherlands Cancer Institute. Department of Epidemiology (Amsterdam, Països Baixos)) ; Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos)) ; Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos)) ; Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos)) ; van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos)) ; Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica)) ; Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ; John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica)) ; Miron, Alexander (Dana-Farber Cancer Institute. Department of Cancer Biology (Boston, Estats Units d'Amèrica)) ; Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia)) ; Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica)) ; Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia)) ; Borg, Åke (Lund University. Department of Oncology (Lund, Suècia)) ; Rantala, Johanna (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Barbany-Bustinza, Gisela (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia)) ; Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia)) ; Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel)) ; Laitman, Yael (Chaim Sheba Medical Center (Israel)) ; Milgrom, Roni (Chaim Sheba Medical Center (Israel)) ; Friedman, Eitan (Chaim Sheba Medical Center (Israel)) ; Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Johannsson, Oskar Thor (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia)) ; Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica)) ; Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ; Moreno, Víctor (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit)) ; Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Caldés, Trinidad (Hospital Clínico San Carlos (Madrid)) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Benítez, Javier (Centro Nacional de Investigaciones Oncológicas) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales, y Tecnológicas (Madrid, Espanya)) ; Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ; Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio) ; Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge) ; Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care) ; Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França)) ; Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França)) ; Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França)) ; McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care) ; Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia)) ; Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio) ; Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya)) ; Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia)) ; Caligo, Maria Adelaide (University Hospital of Pisa. Section of Genetic Oncology (Pisa, Itàlia)) ; Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica)) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia)) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics. Hematology, Oncology and Transfusion Medicine Center (Vilnius, Lituània)) ; Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França)) ; Stoppa-Lyonnet, Dominique (Institut Curie) ; Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Castera, Laurent (Institut Curie) ; de Pauw, Antoine (Institut Curie) ; Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França)) ; Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França)) ; The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) ; The Netherlands Cancer Institute. Hereditary Breast and Ovarian Cancer Group (HEBON) ; University of Utah School of Medicine. Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica) ; Lund University. Swedish Breast Cancer Study (Lund, Suècia) ; Fédération Nationale des Centres de Lutte Contre le Cancer. Groupe Génétique et Cancer (Lyon, França)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. [...]
2011 - 10.1186/bcr2862
Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14  
9.
39 p, 2.8 MB Disease-corrected haematopoietic progenitors from Fanconi anemia induced pluripotent stem cells / Raya, Ángel (Institució Catalana de Recerca i Estudis Avançats (ICREA)) ; Rodríguez-Pizà, Ignasi (Centro de Medicina Regenerativa de Barcelona) ; Guenechea, Guillermo (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vassena, Rita (Centro de Medicina Regenerativa de Barcelona) ; Navarro Ordóñez, Susana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Barrero, María José (Centro de Medicina Regenerativa de Barcelona) ; Consiglio, Antonella (Centre de Medicina Regenerativa de Barcelona-CMRB) ; Castellà, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sleep, Eduard (Centro de Medicina Regenerativa de Barcelona) ; González, Federico (Centro de Medicina Regenerativa de Barcelona) ; Tiscornia, Gustavo (Centro de Medicina Regenerativa de Barcelona) ; Garreta, Elena (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Aasen, Trond (Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina) ; Veiga, Anna (Centro de Medicina Regenerativa de Barcelona) ; Verma, Inder M. (Salk Institute for Biological Studies) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Izpisúa Belmonte, Juan Carlos (Salk Institute for Biological Studies)
The generation of induced pluripotent stem (iPS) cells by ectopic expression of a defined set of factors1-5 has enabled the derivation of patient-specific pluripotent cells and provided valuable experimental platforms to model human disease6-8. [...]
2009 - 10.1038/nature08129
Nature, Núm. 460 (05 2009) , p. 53-59  
10.
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 Moréu, Elsa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; 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 Universitari i Politècnic La Fe de Valencia) ; 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 - 10.1086/517616
American journal of human genetics, Vol. 80, Núm. 5 (2007) , p. 895-910  

Vegeu també: autors amb noms similars
1 Bueren, J.
2 Bueren, J.A.
5 Bueren, Juan A.
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