Resultats globals: 5 registres trobats en 0.02 segons.
Articles, 4 registres trobats
Documents de recerca, 1 registres trobats
Articles 4 registres trobats  
1.
14 p, 104.2 KB Savior siblings and Fanconi anemia : analysis of success rates from the family's perspective. / Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia)
Purpose:The current curative treatment of Fanconi anemia is hematopoietic stem cell transplantation; this treatment has a higher rate of successful outcome when donors are compatible siblings. Therefore some families opt to have a healthy and compatible baby after selecting an embryo using preimplantation genetic diagnosis with human leukocyte antigen (HLA) typing. [...]
2015 - 10.1038/gim.2014.206
Genetics in Medicine, Vol. 17, issue 11 (Nov. 2015) , p. 935-938  
2.
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 (Centre de Medicina Regenerativa de Barcelona) ; Tarantino, Carolina (Centre 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 (Fundación Jiménez Díaz. Instituto de Investigación Sanitaria) ; Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma 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)  
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.
12 p, 1.1 MB Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients / Joksic, Ivana (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia)) ; Vujic, Dragana (University of Belgrade. School of Medicine (Belgrad, Sèrbia)) ; Guc-Scekic, Marija (Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic” (Belgrad, Sèrbia)) ; Leskovac, Andreja (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia)) ; Petrovic, Sandra (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia)) ; Ojani, Maryam (Brunel University (Londres, Regne Unit)) ; Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Zivkovic, Maja (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia)) ; Stankovic, Aleksandra (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia)) ; Slijepcevic, Pedrag (Brunel University (Londres, Regne Unit)) ; Joksic, Gordana (University of Belgrade. Vinca Institute of Nuclear Sciences (Belgrad, Sèrbia))
Background: Fanconi anemia (FA) is characterized by sensitivity to DNA cross-linking agents, mild cellular, and marked clinical radio sensitivity. In this study we investigated telomeric abnormalities of non-immortalized primary cells (lymphocytes and fibroblasts) derived from FA patients of the FA-D2 complementation group, which provides a more accurate physiological assessment than is possible with transformed cells or animal models. [...]
2012 - 10.1186/2041-9414-3-6
Genome integrity, Vol. 3, N. 6 (September 2012) , p. 1-12  

Documents de recerca 1 registres trobats  
1.
356 p, 7.3 MB Genética clínica de la anemia de Fanconi / Trujillo Quintero, Juan Pablo ; Surrallés i Calonge, Jordi, dir. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
La anemia de Fanconi (AF) es un síndrome hereditario raro, de patrón recesivo mayoritariamente autosómico. Clínicamente se caracteriza por presentar malformaciones congénitas, fallo de médula ósea progresivo, endocrinopatías, predisposición a cáncer e hipersensibilidad celular a agente inductores de enlaces cruzados en el DNA (ICL). [...]
Fanconi anemia (FA) is a rare genetic disorder, which is mainly inherited with autosomal recessive pattern. Clinically it is characterized by congenital and endocrine abnormalities, bone marrow failure, cancer predisposition and cellular hypersensitivity to DNA interstrand crosslinking agents (ICL). [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2013  

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