publication . Article . Other literature type . 2003

Genetic basis of Fanconi anemia

Bagby, Grover C.;
Restricted
  • Published: 01 Jan 2003 Journal: Current Opinion in Hematology, volume 10, pages 68-76 (issn: 1065-6251, Copyright policy)
  • Publisher: Ovid Technologies (Wolters Kluwer Health)
Abstract
Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia and acute nonlymphocytic leukemia, and cellular hypersensitivity to cross linking agents. Five of the seven known Fanconi anemia proteins bind together in a complex and influence the function of a sixth, FANCD2, which colocalizes with BRCA1 in nuclear foci after genotoxic stress. Carboxy-terminal truncating mutations of the seventh Fanconi anemia gene, BRCA2, are hypomorphic and lead to FA-D1 and possibly FA-B. Because the Fanconi anemia alleles of BRCA2 fail to bind to Rad51 in response to genotoxic stress and Ra...
Subjects
Medical Subject Headings: hemic and lymphatic diseasescongenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
free text keywords: Hematology, FANCD2, Fanconi anemia, medicine.disease, medicine, Cancer research, RAD51, Fanconi anemia, complementation group C, Leukemia, Immunology, Mutation, medicine.disease_cause, Biology, Somatic cell, Bone marrow failure
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