The emerging genetic and molecular basis of Fanconi anaemia

By H. Joenje, K. J. Patel. Nature reviews genetics, 2001

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Molecular views of recombination proteins and their control (2003, background): “Cell lines that are derived from individuals with FA are uniquely hypersensitive to crosslinking agents such as mitomycin C or cis -platinum, which indicates that they have a DNA-repair defec”
ATM and related protein kinases: safeguarding genome integrity (2003, background): “4 ) links the DSB-response network to the FA complex, known primarily for its involvement in the response to DNA interstrand crosslink”
Oxidative Stress Resistance in Deinococcus radiodurans (2011, background): “DNA interstrand cross-link repair defects underlie a cancer-progeroid condition called Fanconi anemia (274, 605).”
A novel ubiquitin ligase is deficient in Fanconi anemia (2003, background): “gif" NDATA ITEM> ]> Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibilit”
A 20-year perspective on the International Fanconi Anemia Registry (IFAR). (2003, background): “Hepatocellular carcinoma 6 Liver adenocarcinoma 1 Brain tumors 5 ( 2 )”
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins (2007, background): “It is a rare human genetic disease characterized by bone marrow failure, various developmental abnormalities and a high incidence of malignancie”