FABarbeDon’t forget the fruit! Mango chunks for the win! #myFAlife #FanconiAnemia #whenlifegivesyoumangos #breakfast #rare
Another morning, another Dr. visit 🤪 #thisismyFAlife #professionalpatient #FanconiAnemia #FACancer #rare
Breakfast to fuel a Monday morning! Yep, complete with smattering of pills 🤪 #professionalpatient #FanconiAnemia #FACancer
Country Girl Gone CityBeing a caregiver is a challenging role, but when you’re balancing your own chronic illness while caring for a spouse with another rare disease, the challenges intensify. I live with Ehlers-Danlos Syndrome (EDS), a rare connective tissue disorder that leads to chronic pain and physical limitations, while my husband, Dexter, has Fanconi Anemia (FA), a genetic disorder that makes him susceptible to various cancers and
http://countrygirlgonecity.com/2024/09/25/rare-to-rare-caregiving-for-a-rare-as-a-rare/
#cancer #rare #FanconiAnemia #eds #ehlersdanlossyndrome
http://countrygirlgonecity.com/2024/09/25/rare-to-rare-caregiving-for-a-rare-as-a-rare/
#cancer #rare #FanconiAnemia #eds #ehlersdanlossyndrome
Shorty🐢デジタルかめランド実は私、「白血病の方がマシ」と主治医に言わしめた #ファンコニ貧血 患者です（指定難病285 https://www.nanbyou.or.jp/entry/4442%EF%BC%89
#FanconiAnemia
#FanconiAnemia
Eishi Noguchi#genetics #cancer #bonemarrow #DNArepair #Fanconianemia
Please check our review article, published in December Issue of Human Genetics.
Jasmine Peake and I wrote about Fanconi anemia, a genetic disorder with bone marrow failure and cancer predisposition. We discuss the genetics, phenotypic characteristics, epidemiology, and associated cancer risk of Fanconi anemia - also mechanisms of DNA repair via the Fanconi anemia DNA repair pathway.
https://link.springer.com/article/10.1007/s00439-022-02462-9
Please check our review article, published in December Issue of Human Genetics.
Jasmine Peake and I wrote about Fanconi anemia, a genetic disorder with bone marrow failure and cancer predisposition. We discuss the genetics, phenotypic characteristics, epidemiology, and associated cancer risk of Fanconi anemia - also mechanisms of DNA repair via the Fanconi anemia DNA repair pathway.
https://link.springer.com/article/10.1007/s00439-022-02462-9
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair - Human Genetics
Fanconi anemia is a genetic disorder that is characterized by bone marrow failure, as well as a predisposition to malignancies including leukemia and squamous cell carcinoma (SCC). At least 22 genes are associated with Fanconi anemia, constituting the Fanconi anemia DNA repair pathway. This pathway coordinates multiple processes and proteins to facilitate the repair of DNA adducts including interstrand crosslinks (ICLs) that are generated by environmental carcinogens, chemotherapeutic crosslinkers, and metabolic products of alcohol. ICLs can interfere with DNA transactions, including replication and transcription. If not properly removed and repaired, ICLs cause DNA breaks and lead to genomic instability, a hallmark of cancer. In this review, we will discuss the genetic and phenotypic characteristics of Fanconi anemia, the epidemiology of the disease, and associated cancer risk. The sources of ICLs and the role of ICL-inducing chemotherapeutic agents will also be discussed. Finally, we will review the detailed mechanisms of ICL repair via the Fanconi anemia DNA repair pathway, highlighting critical regulatory processes. Together, the information in this review will underscore important contributions to Fanconi anemia research in the past two decades.