- Entrez Gene: FANCC Fanconi anemia, complementation group C". PMC, Europe. (wikipedia.org)
- Fanconi Anemia complementation group C protein in metabolic disorders. (nih.gov)
- Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. (nih.gov)
- Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. (wikipedia.org)
- FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients. (wikipedia.org)
- Mutations in this gene result in Fanconi anemia, a human rare disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. (wikipedia.org)
- Molecular pathogenesis of Fanconi anemia: recent progress. (medlineplus.gov)
- The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. (medlineplus.gov)
- FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients. (wikipedia.org)
- This indicates that the genes for the other Fanconi anaemia complementation groups must map to one or more different chromosomal locations. (bmj.com)
- Fanconi anaemia genes and susceptibility to cancer. (medlineplus.gov)
- 6. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. (nih.gov)
- 15. Evidence for at least eight Fanconi anemia genes. (nih.gov)
- Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and cancer susceptibility. (nih.gov)
- Fanconi anemia (FA) is a rare autosomal recessive disease characterized by congenital abnormalities, progressive bone marrow failure, and cancer susceptibility. (ashpublications.org)
- Fanconi anaemia is an autosomal recessive disorder associated with increased chromosome breakage and progressive bone marrow failure. (bmj.com)
- This chapter describes the clinical presentation and molecular basis of two inherited bone marrow failure syndromes, Fanconi anemia (FA), and Diamond-Blackfan anemia (DBA). (ashpublications.org)
- The markers also allowed rapid exclusion of 56% of the families in our panel from complementation group C, thus substantially reducing the number of patients who need to be screened for FACC mutations. (bmj.com)
- Kitao H, Takata M. Fanconi anemia: a disorder defective in the DNA damage response. (medlineplus.gov)
- Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. (nih.gov)
- In Section III, Drs. Eva Guinan and Akiko Shimamura provide an algorithm for the diagnostic evaluation and treatment of children with inherited or acquired aplastic anemia. (ashpublications.org)
- Progressive megaloblastic anemia ensues, often accompanied by elevated expression of the i antigen on the red cells. (ashpublications.org)