Published in Archives of Toxicology
Formaldehyde (FA), a major industrial chemical and ubiquitous environmental pollutant, has recently been classified by the International Agency for Research on Cancer as a human leukemogen. The major mode of action of FA is thought to be the formation of DNA–protein cross-links (DPCs). Repair of DPCs may be mediated by the Fanconi anemia pathway; h...
Published in BBA - Biomembranes
•Spectrin is a principal component of the membrane skeleton.•Spectrin is a platform for membrane channels, receptors and transporters.•Spectrin contains domains which function as interfaces for receiving signals.
Fanconi anemia (FA) is an inherited bone marrow failure syndrome due to defective DNA inter-strand cross-link repair. Hematopoietic stem cell transplantation (HSCT) is curative for pancytopenia, but may not prevent the development of non-hematological malignancies. We describe a 26-year-old male patient with FA and Marfan syndrome who in 1994 under...
Published in Brenner’s Encyclopedia of Genetics
Many human hereditary diseases, including those that predispose to cancer or premature aging, develop as a consequence of genomic instability. Deficiencies in DNA repair and the processing of damaged DNA during replication and transcription are largely responsible for the mutations that give rise to genomic instability, although not all DNA repair ...
Published in Vaccine
Patients with Fanconi anemia (FA) and other inherited bone marrow failure syndromes (IBMFS) have extremely high risks of squamous cell head and neck, and gynecologic carcinomas. In the general population, these sites are often associated with infection with human papillomaviruses (HPV), particularly HPV16 and HPV18. Our objectives were to measure t...
Published in Rare diseases (Austin, Tex.)
Fanconi anemia (FA) is a heterogeneous disease associated with a bone marrow failure, cancer predisposition and hypersensitivity to DNA crosslinking agents. To date, 15 different genes have been shown to cause FA, all of which have some role in repair of defective DNA interstrand crosslinks. On a biochemical level, many FA individuals display insuf...
Published in Human mutation
SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility. Three of the 15 FA genes are breast cancer susceptibility genes in heterozygous mutation carriers--BRCA2, PALB2, and BRIP1. To investigate if defects in SLX4 also pre...
Published in International Journal of Hematology
Inherited bone marrow failure syndromes (CBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignant disease. The representative diseases with trilineage involvement are Fanconi anemia and dyskeratosis congenita, while the disease with the single lineage cytope...
Published in Free Radical Biology and Medicine
Aldehyde dehydrogenase 3A1 (ALDH3A1), an ALDH superfamily member, catalyzes the oxidation of reactive aldehydes, highly toxic components of cigarette smoke (CS). Even so, the role of ALDH3A1 in CS-induced cytotoxicity and DNA damage has not been examined. Among all of the ALDH superfamily members, ALDH3A1 mRNA levels showed the greatest induction i...
Fanconi anemia (FA) is a recessive chromosomal instability syndrome that is clinically characterized by multiple symptoms. Chromosome breakage hypersensitivity to alkylating agents is the gold standard test for FA diagnosis. In this study, we provide a detailed laboratory protocol for accurate assessment of FA diagnosis based on mitomycin C (MMC) t...
