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DNA interstrand crosslinks (ICLs) are repaired by the Fanconi anemia (FA) pathway. The FA pathway is activated by phosphorylation of FANCI in FANCD2-FANCI complex. To investigate how phosphorylation regulates FA pathway activation and function, recombinant FANCD2-FANCI complexes prepared using eithe...
ORGANISM(S): Cellular Organisms 
Fanconi anemia (FA) is a genetic disorder characterized by congenital abnormalities, bone marrow failure and increased susceptibility to cancer. Of the fifteen FA proteins, Fanconi anemia group C (FANCC) is one of eight FA core complex components of the FA pathway. Unlike other FA core complex prote...
ORGANISM(S): Homo sapiens 
Seeking to challenge the current dogma that the nuclear core-complex proteins function in an entirely epistatic manner, Dr. Clapp's group developed a new double-knockout mouse nullizygous for Fancc and Fancg. Because the hematopoietic phenotype was more severe than single knockout mice, we reasone...
ORGANISM(S): Mus musculus 
We performed whole-exome sequencing of two Fanconi anemia patients without mutation of known FA genes, and identified a novel FA gene FANCT.
Fanconi Anemia (FA) is a rare genetic disorder characterized by an increased susceptibility to squamous cell cancers. Fifteen FA genes are known, and the encoded proteins cooperate in a common DNA repair pathway. A critical step is the monoubiquitination of the FANCD2 protein, and cells from most...
ORGANISM(S): Homo sapiens 
We used Fancd2-/- mice to understand its mechanism of action. Transcriptome analysis of cKit+ Sca1+ Lin- (KSL) cells discovered that only four genes changed their expression levels significantly after chronic OXM administration in both Fancd2−/− and wild-type mice: mKi67 and Cenpf were up-regualted ...
ORGANISM(S): Mus musculus 
Hyperinsulinemia affects 72% of Fanconi anemia (FA) patients and an additional 25% experience lowered glucose tolerance or frank diabetes. The underlying molecular mechanisms contributing to the dysfunction of FA pancreas β cells is unknown. These experiments were performed in 293FT HEK cells as a p...
ORGANISM(S): Homo sapiens (Human) 
2019-07-25 | PXD010570 | Pride
Non-invasive assessment of early embryonic somatic mosaicism and hypermutation phenomenon in patients with Fanconi anemia
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