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10.1016/j.blre.2016.10.002

http://scihub22266oqcxt.onion/10.1016/j.blre.2016.10.002
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suck abstract from ncbi


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pmid27760710
      Blood+Rev 2017 ; 31 (3 ): 93-99
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  • Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia #MMPMID27760710
  • Mamrak NE ; Shimamura A ; Howlett NG
  • Blood Rev 2017[May]; 31 (3 ): 93-99 PMID27760710 show ga
  • Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21. This review summarizes the discovery of these new FA genes and describes how these proteins integrate into the FA-BRCA pathway to maintain genome stability and critically prevent early-onset BMF and cancer.
  • |BRCA1 Protein/genetics/metabolism [MESH]
  • |Bone Marrow/*metabolism/*pathology [MESH]
  • |DNA Damage [MESH]
  • |DNA-Binding Proteins/genetics/metabolism [MESH]
  • |Fanconi Anemia Complementation Group Proteins/genetics/metabolism [MESH]
  • |Fanconi Anemia/*etiology/*metabolism/pathology [MESH]
  • |Genomic Instability [MESH]
  • |Homologous Recombination [MESH]
  • |Humans [MESH]
  • |Mad2 Proteins/genetics/metabolism [MESH]
  • |Mutation [MESH]
  • |Rad51 Recombinase/genetics/metabolism [MESH]
  • |Signal Transduction [MESH]
  • |Ubiquitin-Conjugating Enzymes/genetics/metabolism [MESH]


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