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Fanconi anemia (FA) is an autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to neoplasia. Patient cells manifest an extreme chromosomal instability and hypersensitivity to polyfunctional alkylating agents. It is assumed that the basic defect is related to the repair of DNA damage, in particular that of so-called DNA crosslinks. Currently there are eight complementation groups in FA (FA-A-FA-H) which indicates that at least eight independent genes can lead to FA. Three of these genes have been identified: FANCA, FANCC and FANCG. (from PMID 10472548)
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Authors: Angel Raya, Ignasi Rodríguez-Pizà, Guillermo Guenechea, Rita Vassena, Susana Navarro, María José Barrero, Antonella Consiglio, Maria Castellà, Paula Río, Eduard Sleep,…
Nature 2009 Jul 2Authors: Bing Xia, Josephine C Dorsman, Najim Ameziane, Yne de Vries, Martin A Rooimans, Qing Sheng, Gerard Pals, Abdellatif Errami, Eliane Gluckman, Julian Llera,…
Nature genetics 2007 FebThought leaders and organizations working on research involving Fanconi's anemia.
conditions: Fanconi's Anemia
interventions: cyclophosphamide ; Allogeneic Bone Marrow Transplantation
conditions: Fanconi's Anemia
interventions: filgrastim ; Autologous stem cells transduced with FACC retroviral vector ; Autologous Stem Cell Transplantation
Praticien Hospitalier
University Hospital
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