Publications by authors named "Barbara Ciastek"
Int J Mol Sci
October 2024
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder caused by mutations in any of the 22 known genes involved in maintaining genome integrity, leading to symptoms such as congenital anomalies, bone marrow failure, and increased cancer risk.
- The diagnostic process for FA is complex, requiring various methods including cytogenetic and molecular analyses, due to its diverse genetic background and clinical manifestations.
- Recent research suggests that factors like inflammation, oxidative stress, and disturbed metabolism contribute to FA's progression, with a focus on how these factors lead to bone marrow failure through a balance of cytokines and redox states.
